Incidental Mutation 'R1785:Aspm'
ID 196328
Institutional Source Beutler Lab
Gene Symbol Aspm
Ensembl Gene ENSMUSG00000033952
Gene Name abnormal spindle microtubule assembly
Synonyms Sha1, D330028K02Rik, Calmbp1, MCPH5, Aspm
MMRRC Submission 039816-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1785 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 139382510-139421829 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139401312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1111 (I1111V)
Ref Sequence ENSEMBL: ENSMUSP00000142880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053364] [ENSMUST00000200083]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000053364
AA Change: I1111V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000059159
Gene: ENSMUSG00000033952
AA Change: I1111V

DomainStartEndE-ValueType
Pfam:ASH 29 126 8.9e-35 PFAM
low complexity region 855 861 N/A INTRINSIC
CH 890 1022 2.04e0 SMART
CH 1080 1224 5.56e-9 SMART
IQ 1233 1255 7.57e0 SMART
IQ 1259 1281 1.12e1 SMART
IQ 1282 1304 3.73e-1 SMART
IQ 1314 1336 2.41e-4 SMART
IQ 1360 1382 2.12e1 SMART
IQ 1387 1408 7.61e1 SMART
IQ 1409 1431 6.97e0 SMART
IQ 1432 1452 1.44e1 SMART
IQ 1453 1475 1.15e-1 SMART
IQ 1476 1495 1.66e2 SMART
IQ 1503 1525 1.65e-2 SMART
IQ 1526 1548 1.32e1 SMART
IQ 1549 1571 1.48e1 SMART
IQ 1572 1594 2.5e1 SMART
IQ 1599 1621 2.58e-4 SMART
IQ 1622 1644 6.7e-3 SMART
IQ 1645 1667 4.25e1 SMART
IQ 1668 1694 1.03e2 SMART
IQ 1695 1717 2.33e-2 SMART
IQ 1718 1740 7.79e0 SMART
IQ 1741 1763 1.57e2 SMART
IQ 1768 1790 2.68e-2 SMART
IQ 1791 1813 5.83e-3 SMART
IQ 1814 1836 5.93e1 SMART
IQ 1841 1863 1.92e-3 SMART
IQ 1864 1886 3.79e-2 SMART
IQ 1914 1936 4.11e0 SMART
IQ 1937 1959 1.87e-1 SMART
IQ 1960 1982 6.27e1 SMART
IQ 1987 2009 8.25e-3 SMART
IQ 2010 2032 5.73e0 SMART
IQ 2060 2082 1.39e0 SMART
IQ 2083 2105 4.62e1 SMART
IQ 2133 2155 5.58e0 SMART
IQ 2156 2178 7.07e-2 SMART
IQ 2206 2228 1.18e-3 SMART
IQ 2229 2251 4.59e0 SMART
IQ 2278 2300 1.85e-5 SMART
IQ 2301 2323 8.13e-2 SMART
IQ 2342 2364 9.62e-4 SMART
IQ 2365 2387 4.12e-3 SMART
IQ 2415 2437 7.58e-2 SMART
IQ 2438 2460 2.6e0 SMART
IQ 2490 2512 1.68e-3 SMART
IQ 2513 2535 8.51e1 SMART
IQ 2560 2582 2.14e-1 SMART
IQ 2601 2623 8.46e0 SMART
IQ 2647 2669 1.15e1 SMART
IQ 2673 2695 1.95e-4 SMART
IQ 2696 2718 4.13e1 SMART
IQ 2723 2745 1.02e-2 SMART
IQ 2761 2783 3.14e2 SMART
IQ 2784 2806 1e1 SMART
IQ 2825 2847 2.43e0 SMART
IQ 2848 2870 4.6e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199998
Predicted Effect probably benign
Transcript: ENSMUST00000200083
AA Change: I1111V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142880
Gene: ENSMUSG00000033952
AA Change: I1111V

DomainStartEndE-ValueType
low complexity region 855 861 N/A INTRINSIC
CH 890 1022 2.04e0 SMART
CH 1080 1224 5.56e-9 SMART
IQ 1233 1255 7.57e0 SMART
IQ 1259 1281 1.12e1 SMART
IQ 1282 1304 3.73e-1 SMART
IQ 1314 1336 1.25e1 SMART
IQ 1337 1358 2.96e1 SMART
IQ 1382 1404 1.15e1 SMART
IQ 1408 1430 1.95e-4 SMART
IQ 1431 1453 4.13e1 SMART
IQ 1458 1480 1.02e-2 SMART
IQ 1496 1518 3.14e2 SMART
IQ 1519 1541 1e1 SMART
IQ 1560 1582 2.43e0 SMART
IQ 1583 1605 4.6e-1 SMART
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for protein-truncating gene trap mutations of this gene exhibit decreased body weight, microcephaly, a severe reduction in brain, testis and ovary weight, oligozoospermia and asthenospermia, and reduced fertility in both sexes. [provided by MGI curators]
Allele List at MGI

All alleles(9) : Targeted, other(2) Gene trapped(7)

Other mutations in this stock
Total: 243 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 G A 14: 118,790,761 (GRCm39) R749C probably damaging Het
Acot11 T C 4: 106,619,232 (GRCm39) E201G probably damaging Het
Adgrf4 C T 17: 42,977,789 (GRCm39) R518Q possibly damaging Het
Akap13 G T 7: 75,261,182 (GRCm39) A1269S probably benign Het
Aldh4a1 T C 4: 139,371,439 (GRCm39) V451A probably benign Het
Aox3 A G 1: 58,209,002 (GRCm39) H845R probably damaging Het
Arhgap23 A G 11: 97,342,387 (GRCm39) D223G possibly damaging Het
Asb6 G A 2: 30,717,088 (GRCm39) R46W probably damaging Het
C4bp C G 1: 130,570,725 (GRCm39) V284L probably benign Het
Cacna1s T C 1: 136,046,454 (GRCm39) F1761S probably benign Het
Cad T A 5: 31,215,416 (GRCm39) F76I probably damaging Het
Camsap2 C T 1: 136,209,053 (GRCm39) R802Q probably benign Het
Capn11 A G 17: 45,949,623 (GRCm39) S448P probably benign Het
Capn9 G A 8: 125,332,450 (GRCm39) G430R possibly damaging Het
Cbx5 G A 15: 103,121,551 (GRCm39) R29C probably null Het
Ccdc93 C T 1: 121,383,855 (GRCm39) P192L probably benign Het
Ccdc93 T C 1: 121,389,668 (GRCm39) V237A probably benign Het
Ccn4 G A 15: 66,778,338 (GRCm39) C53Y probably damaging Het
Cd55 C T 1: 130,377,160 (GRCm39) V333I probably benign Het
Cd55 C A 1: 130,387,370 (GRCm39) A143S probably benign Het
Cdh19 C A 1: 110,821,114 (GRCm39) E541D probably damaging Het
Cdh20 C G 1: 109,993,465 (GRCm39) L307V possibly damaging Het
Cfh T C 1: 140,064,526 (GRCm39) K374R probably benign Het
Cfh C T 1: 140,075,435 (GRCm39) V268I possibly damaging Het
Cfhr2 A G 1: 139,741,180 (GRCm39) M265T probably benign Het
Cfhr2 A C 1: 139,741,197 (GRCm39) N259K probably benign Het
Chi3l1 C T 1: 134,116,267 (GRCm39) A250V probably damaging Het
Cntnap5a C T 1: 116,382,873 (GRCm39) T1047I probably benign Het
Cntnap5a C A 1: 116,382,734 (GRCm39) L1001I probably benign Het
Cntnap5a T C 1: 116,382,831 (GRCm39) L1033S probably benign Het
Cntnap5c A G 17: 58,469,286 (GRCm39) I623V probably benign Het
Cntrl CAGAG CAG 2: 35,012,818 (GRCm39) probably null Het
Crb1 G A 1: 139,168,876 (GRCm39) P881S probably damaging Het
Crb1 C T 1: 139,170,733 (GRCm39) G825R probably damaging Het
Crb1 C T 1: 139,171,155 (GRCm39) R684H probably benign Het
Crb1 T C 1: 139,162,517 (GRCm39) M1214V probably benign Het
Crb1 A T 1: 139,165,360 (GRCm39) H921Q probably benign Het
Crocc T C 4: 140,749,113 (GRCm39) D1564G probably damaging Het
Csf1r A T 18: 61,262,149 (GRCm39) M802L probably damaging Het
Cxcr4 C T 1: 128,517,014 (GRCm39) V216I probably benign Het
Cyb5r1 C T 1: 134,335,405 (GRCm39) R147W probably damaging Het
Daxx T C 17: 34,130,816 (GRCm39) I277T probably damaging Het
Dctn4 T C 18: 60,679,407 (GRCm39) probably null Het
Ddx59 T C 1: 136,344,791 (GRCm39) V154A probably benign Het
Dnah5 A G 15: 28,313,932 (GRCm39) Q1916R probably damaging Het
Dnah8 T C 17: 30,941,911 (GRCm39) V1719A probably damaging Het
Dsel T C 1: 111,787,187 (GRCm39) N1116S probably benign Het
Dsel G C 1: 111,787,724 (GRCm39) T937S probably benign Het
Dstyk C T 1: 132,384,722 (GRCm39) L739F probably damaging Het
En1 A G 1: 120,531,350 (GRCm39) S197G unknown Het
Enah A T 1: 181,783,994 (GRCm39) M105K unknown Het
Epm2a A G 10: 11,219,426 (GRCm39) E71G probably benign Het
Etnk2 C A 1: 133,293,325 (GRCm39) D89E probably benign Het
Etnk2 G T 1: 133,293,503 (GRCm39) G149W probably damaging Het
Etnk2 C T 1: 133,293,554 (GRCm39) R166* probably null Het
Etnk2 G A 1: 133,293,555 (GRCm39) R166Q probably benign Het
Etnk2 T A 1: 133,304,653 (GRCm39) V292E probably benign Het
Etnk2 A G 1: 133,291,661 (GRCm39) S54G probably benign Het
Eya1 A G 1: 14,241,198 (GRCm39) V573A probably benign Het
Faim2 A G 15: 99,410,423 (GRCm39) L235P probably damaging Het
Fam221b T A 4: 43,665,537 (GRCm39) H307L probably damaging Het
Fam72a C T 1: 131,466,633 (GRCm39) T139M probably benign Het
Fam72a T C 1: 131,458,406 (GRCm39) I56T probably benign Het
Fbxw10 T A 11: 62,750,683 (GRCm39) I422N probably damaging Het
Fcamr A C 1: 130,732,364 (GRCm39) N117T probably benign Het
Fcamr A G 1: 130,739,317 (GRCm39) I206V probably benign Het
Fcamr G A 1: 130,740,366 (GRCm39) G262S probably benign Het
Fcamr A G 1: 130,740,429 (GRCm39) I283V probably benign Het
Fcamr T C 1: 130,740,475 (GRCm39) V298A probably benign Het
Fcamr A G 1: 130,740,546 (GRCm39) M322V probably benign Het
Fcamr C T 1: 130,740,553 (GRCm39) P324L probably benign Het
Fcamr A G 1: 130,742,334 (GRCm39) N574D probably benign Het
Fcamr A G 1: 130,732,306 (GRCm39) R98G probably benign Het
Fcmr T C 1: 130,806,006 (GRCm39) S321P probably benign Het
Fcmr A G 1: 130,803,711 (GRCm39) T172A probably benign Het
Foxn4 C T 5: 114,401,193 (GRCm39) D37N probably damaging Het
Gabarap C T 11: 69,882,515 (GRCm39) probably benign Het
Gemin4 G C 11: 76,101,876 (GRCm39) P962A probably damaging Het
Gli2 G T 1: 118,929,774 (GRCm39) H44Q probably benign Het
Gli2 C T 1: 118,795,817 (GRCm39) A113T possibly damaging Het
Glrx2 C T 1: 143,615,478 (GRCm39) A27V possibly damaging Het
Gm10563 C T 4: 155,720,337 (GRCm39) probably benign Het
Gm28040 AGTG AGTGGCACCTTTGGTG 1: 133,255,059 (GRCm39) probably benign Het
Gm8374 T C 14: 18,537,078 (GRCm39) T49A probably damaging Het
Golim4 A T 3: 75,815,456 (GRCm39) V116D probably damaging Het
Gper1 C T 5: 139,412,477 (GRCm39) P274L probably damaging Het
Gpr132 A G 12: 112,816,023 (GRCm39) S268P probably damaging Het
Gpr25 G A 1: 136,188,448 (GRCm39) P55L probably benign Het
Grm7 G C 6: 111,335,256 (GRCm39) D556H probably damaging Het
H2-K2 C A 17: 34,216,322 (GRCm39) E275* probably null Het
Ift20 G A 11: 78,430,860 (GRCm39) E68K probably damaging Het
Igfn1 T C 1: 135,926,421 (GRCm39) I10V unknown Het
Igfn1 C T 1: 135,899,865 (GRCm39) R482Q probably benign Het
Igfn1 T C 1: 135,898,149 (GRCm39) S806G probably benign Het
Igfn1 G A 1: 135,895,937 (GRCm39) A1543V probably benign Het
Igfn1 G A 1: 135,887,666 (GRCm39) P2466L probably damaging Het
Igfn1 C T 1: 135,907,653 (GRCm39) A231T probably benign Het
Igfn1 G A 1: 135,910,213 (GRCm39) R124W probably benign Het
Igfn1 T C 1: 135,926,363 (GRCm39) E29G probably benign Het
Ikbke C A 1: 131,193,674 (GRCm39) A459S probably benign Het
Ikbke T C 1: 131,197,560 (GRCm39) S447G probably benign Het
Insrr G A 3: 87,717,879 (GRCm39) probably null Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Ipo9 A G 1: 135,329,988 (GRCm39) V484A probably benign Het
Ipo9 TCC TCCGCC 1: 135,314,019 (GRCm39) probably benign Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Kcnt2 G A 1: 140,282,285 (GRCm39) S90N probably benign Het
Kif14 T C 1: 136,453,521 (GRCm39) V1433A probably benign Het
Kif14 T C 1: 136,443,699 (GRCm39) F1291L probably benign Het
Kif14 C T 1: 136,431,169 (GRCm39) L1189F probably benign Het
Kif14 A G 1: 136,418,070 (GRCm39) S868G probably benign Het
Kif14 G A 1: 136,406,103 (GRCm39) A556T probably benign Het
Kif14 A G 1: 136,396,713 (GRCm39) K340E probably damaging Het
Kif14 A G 1: 136,396,017 (GRCm39) N108D probably benign Het
Kmt2a G A 9: 44,730,972 (GRCm39) probably benign Het
Krtap16-1 A T 11: 99,876,602 (GRCm39) C267* probably null Het
Lad1 C T 1: 135,755,761 (GRCm39) R346C probably damaging Het
Lad1 C T 1: 135,755,119 (GRCm39) P132S possibly damaging Het
Lax1 T C 1: 133,608,307 (GRCm39) N145D probably benign Het
Lax1 G A 1: 133,611,372 (GRCm39) P67S probably damaging Het
Lax1 T C 1: 133,607,716 (GRCm39) R342G probably benign Het
Lgr6 A T 1: 134,915,747 (GRCm39) S334T probably benign Het
Lgr6 G T 1: 134,918,373 (GRCm39) H263N probably benign Het
Lgr6 C T 1: 134,931,214 (GRCm39) S3N probably benign Het
Lgr6 C T 1: 134,914,826 (GRCm39) V641I probably benign Het
Lhx6 G T 2: 35,977,470 (GRCm39) C327* probably null Het
Lifr A G 15: 7,211,337 (GRCm39) D625G possibly damaging Het
Lman1 A T 18: 66,124,653 (GRCm39) M362K probably damaging Het
Lmod1 C T 1: 135,291,811 (GRCm39) T222I probably benign Het
Lmtk2 C T 5: 144,111,806 (GRCm39) T842I possibly damaging Het
Lpin3 T A 2: 160,738,729 (GRCm39) L227* probably null Het
Magel2 A T 7: 62,027,486 (GRCm39) H130L unknown Het
Mki67 T A 7: 135,305,970 (GRCm39) probably null Het
Mnx1 T A 5: 29,679,187 (GRCm39) S299C unknown Het
Mov10 A T 3: 104,725,432 (GRCm39) I59N possibly damaging Het
Mpo A G 11: 87,688,187 (GRCm39) D282G possibly damaging Het
Mroh3 G C 1: 136,119,882 (GRCm39) Q440E possibly damaging Het
Mybph C T 1: 134,125,218 (GRCm39) R249C probably benign Het
Myo7b T C 18: 32,127,950 (GRCm39) I581V probably benign Het
Nav1 A T 1: 135,512,465 (GRCm39) D198E possibly damaging Het
Ncdn T A 4: 126,639,066 (GRCm39) probably null Het
Ndufa4 A T 6: 11,900,574 (GRCm39) V37E probably benign Het
Nop9 T C 14: 55,988,599 (GRCm39) L347P probably damaging Het
Nr5a2 C A 1: 136,879,863 (GRCm39) R35L probably benign Het
Nrp1 A T 8: 129,224,997 (GRCm39) E782D probably damaging Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Optc A T 1: 133,831,534 (GRCm39) probably null Het
Optc C G 1: 133,832,908 (GRCm39) S64T probably benign Het
Or11m3 A T 15: 98,395,716 (GRCm39) D121V probably damaging Het
Or1j13 A G 2: 36,370,059 (GRCm39) S28P possibly damaging Het
Or2z8 A G 8: 72,812,280 (GRCm39) Y252C probably damaging Het
Or4a68 C T 2: 89,269,927 (GRCm39) R232H probably benign Het
Or5k3 A G 16: 58,969,660 (GRCm39) Y149C probably damaging Het
Pard6g T C 18: 80,160,523 (GRCm39) V212A probably damaging Het
Pbx1 T G 1: 168,258,947 (GRCm39) I43L probably benign Het
Phf2 T C 13: 48,971,043 (GRCm39) D543G unknown Het
Pigr C T 1: 130,772,259 (GRCm39) A159V possibly damaging Het
Pik3c2b C T 1: 132,994,365 (GRCm39) P110S probably benign Het
Pkd1 T C 17: 24,810,073 (GRCm39) V3558A probably benign Het
Pla2g6 T C 15: 79,190,545 (GRCm39) Y339C probably benign Het
Plcb1 T A 2: 135,167,587 (GRCm39) Y460* probably null Het
Plekha6 C G 1: 133,215,584 (GRCm39) T792S probably benign Het
Ppard T G 17: 28,517,455 (GRCm39) probably null Het
Ppfia4 G A 1: 134,227,059 (GRCm39) P1159S probably benign Het
Ppm1f A G 16: 16,728,834 (GRCm39) T79A probably benign Het
Prelp C T 1: 133,842,869 (GRCm39) R92K probably benign Het
Ptgdr A T 14: 45,096,036 (GRCm39) Y225* probably null Het
Ptpn22 A G 3: 103,781,368 (GRCm39) I90V probably damaging Het
Ptpn7 A G 1: 135,062,213 (GRCm39) Q53R probably benign Het
Ptprc T G 1: 138,027,414 (GRCm39) N478T probably benign Het
Ptprc T C 1: 138,039,992 (GRCm39) K212E possibly damaging Het
Ptprc A G 1: 138,035,575 (GRCm39) V400A probably benign Het
Ptprc C A 1: 138,035,562 (GRCm39) E402D probably benign Het
Ptprc A G 1: 138,035,561 (GRCm39) S405P probably benign Het
Pus7l T C 15: 94,438,518 (GRCm39) N109S probably benign Het
Rab29 A G 1: 131,799,848 (GRCm39) Q141R probably benign Het
Ren1 T A 1: 133,281,944 (GRCm39) W22R probably damaging Het
Ren1 C G 1: 133,278,516 (GRCm39) probably null Het
Ren1 C G 1: 133,287,745 (GRCm39) L360V probably benign Het
Ren1 A T 1: 133,287,721 (GRCm39) N352Y probably benign Het
Ren1 A T 1: 133,286,817 (GRCm39) E315D probably benign Het
Ren1 C T 1: 133,281,975 (GRCm39) T32I probably benign Het
Rfwd3 A T 8: 112,024,034 (GRCm39) V96E probably benign Het
Ripk4 A C 16: 97,551,331 (GRCm39) V149G probably damaging Het
Rnpep C T 1: 135,190,834 (GRCm39) A571T possibly damaging Het
Rnpep G C 1: 135,211,715 (GRCm39) A11G probably benign Het
Ro60 T C 1: 143,635,772 (GRCm39) D458G probably benign Het
Ro60 C T 1: 143,635,752 (GRCm39) V465I probably benign Het
Rora G A 9: 69,284,119 (GRCm39) A396T probably benign Het
Scap C T 9: 110,203,123 (GRCm39) L266F probably damaging Het
Scn5a A T 9: 119,350,195 (GRCm39) I893N probably damaging Het
Sctr T C 1: 119,959,386 (GRCm39) F110L probably benign Het
Sctr G A 1: 119,990,987 (GRCm39) S440N possibly damaging Het
Sctr G T 1: 119,990,976 (GRCm39) E453D probably benign Het
Septin4 A T 11: 87,474,262 (GRCm39) Q60L probably benign Het
Serpinb10 C T 1: 107,466,203 (GRCm39) S63F probably damaging Het
Serpinb2 C A 1: 107,451,564 (GRCm39) A239E probably benign Het
Serpinb2 C T 1: 107,451,620 (GRCm39) H258Y probably benign Het
Serpinb2 C T 1: 107,451,624 (GRCm39) T259I probably benign Het
Serpinb2 A C 1: 107,452,273 (GRCm39) S284R probably benign Het
Serpinb2 G A 1: 107,443,365 (GRCm39) A55T probably damaging Het
Serpinb8 A C 1: 107,534,734 (GRCm39) L268F probably benign Het
Serpinb8 A G 1: 107,525,257 (GRCm39) S20G probably benign Het
Serpinb8 G A 1: 107,526,684 (GRCm39) A75T probably benign Het
Slc26a9 C T 1: 131,691,608 (GRCm39) A617V probably benign Het
Slc26a9 C A 1: 131,693,750 (GRCm39) R747S probably benign Het
Slc9a4 T G 1: 40,646,901 (GRCm39) probably null Het
Slc9a9 A T 9: 94,901,246 (GRCm39) N393I possibly damaging Het
Stard13 T C 5: 150,968,633 (GRCm39) Y879C probably damaging Het
Steap3 G A 1: 120,162,108 (GRCm39) A350V probably benign Het
Steap3 T C 1: 120,155,480 (GRCm39) N493S probably benign Het
Synj1 G T 16: 90,761,405 (GRCm39) A687D probably damaging Het
Tacc1 A T 8: 25,654,509 (GRCm39) N271K probably damaging Het
Tbx1 A C 16: 18,403,879 (GRCm39) F138V probably damaging Het
Tecpr1 T A 5: 144,145,463 (GRCm39) T595S probably benign Het
Thsd7b T A 1: 129,595,674 (GRCm39) F498Y probably benign Het
Thsd7b C T 1: 129,556,628 (GRCm39) T328I probably damaging Het
Thsd7b A C 1: 130,044,368 (GRCm39) Q1116P probably benign Het
Thsd7b G C 1: 129,605,920 (GRCm39) A554P probably benign Het
Tnnt2 C T 1: 135,773,244 (GRCm39) probably benign Het
Trappc8 A G 18: 20,967,997 (GRCm39) probably null Het
Trim33 AGACTG A 3: 103,236,536 (GRCm39) probably null Het
Trim41 C A 11: 48,698,419 (GRCm39) G516W probably damaging Het
Ttn C T 2: 76,643,683 (GRCm39) G11436R probably damaging Het
Ttn A C 2: 76,716,270 (GRCm39) probably null Het
Txk T A 5: 72,853,922 (GRCm39) T472S probably damaging Het
Ube2t C T 1: 134,899,905 (GRCm39) A149V probably benign Het
Ubr4 T A 4: 139,151,256 (GRCm39) M1897K probably damaging Het
Uggt2 A G 14: 119,298,788 (GRCm39) L391P probably damaging Het
Vmn2r55 A T 7: 12,402,111 (GRCm39) D392E probably damaging Het
Vps13b A G 15: 35,879,937 (GRCm39) Y3004C probably damaging Het
Vps26a A T 10: 62,304,176 (GRCm39) D180E probably benign Het
Vps35l T C 7: 118,393,798 (GRCm39) Y516H probably damaging Het
Xirp1 T G 9: 120,016,907 (GRCm38) Q970P probably benign Het
Zbtb46 C T 2: 181,033,224 (GRCm39) C479Y probably damaging Het
Zc3h11a G A 1: 133,549,892 (GRCm39) P695S probably benign Het
Zc3h11a C T 1: 133,552,359 (GRCm39) V583I probably benign Het
Zdhhc13 T A 7: 48,474,392 (GRCm39) L548Q possibly damaging Het
Zfp236 T C 18: 82,639,429 (GRCm39) M1225V probably benign Het
Zfp281 GCGGCAGCTCCGGCAGC GCGGCAGCTCCGGCAGCTCCGGCAGC 1: 136,553,091 (GRCm39) probably benign Het
Zfyve26 T A 12: 79,315,208 (GRCm39) I1423F possibly damaging Het
Zp3r C A 1: 130,547,151 (GRCm39) E8D possibly damaging Het
Zp3r A G 1: 130,524,551 (GRCm39) L164P probably benign Het
Other mutations in Aspm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Aspm APN 1 139,406,429 (GRCm39) missense probably damaging 1.00
IGL00594:Aspm APN 1 139,415,160 (GRCm39) splice site probably benign
IGL00808:Aspm APN 1 139,389,214 (GRCm39) missense probably benign 0.03
IGL00897:Aspm APN 1 139,405,145 (GRCm39) missense probably damaging 0.98
IGL01024:Aspm APN 1 139,405,862 (GRCm39) missense possibly damaging 0.66
IGL01410:Aspm APN 1 139,410,182 (GRCm39) missense probably benign 0.25
IGL01588:Aspm APN 1 139,405,900 (GRCm39) missense probably benign 0.11
IGL01610:Aspm APN 1 139,417,408 (GRCm39) nonsense probably null
IGL01633:Aspm APN 1 139,408,574 (GRCm39) missense possibly damaging 0.93
IGL01982:Aspm APN 1 139,419,326 (GRCm39) missense probably benign 0.12
IGL02429:Aspm APN 1 139,407,548 (GRCm39) missense probably benign 0.27
IGL02468:Aspm APN 1 139,408,688 (GRCm39) missense probably damaging 1.00
IGL02519:Aspm APN 1 139,389,665 (GRCm39) splice site probably benign
IGL02526:Aspm APN 1 139,417,457 (GRCm39) missense probably benign 0.03
IGL02716:Aspm APN 1 139,407,425 (GRCm39) missense probably damaging 1.00
IGL02876:Aspm APN 1 139,401,391 (GRCm39) missense probably damaging 1.00
IGL02953:Aspm APN 1 139,385,157 (GRCm39) missense probably benign 0.01
IGL03275:Aspm APN 1 139,415,033 (GRCm39) missense probably damaging 1.00
Stemware UTSW 1 139,405,197 (GRCm39) nonsense probably null
3-1:Aspm UTSW 1 139,385,279 (GRCm39) missense probably benign
R0016:Aspm UTSW 1 139,407,282 (GRCm39) missense probably benign 0.01
R0016:Aspm UTSW 1 139,407,282 (GRCm39) missense probably benign 0.01
R0106:Aspm UTSW 1 139,404,614 (GRCm39) missense probably benign 0.02
R0106:Aspm UTSW 1 139,404,614 (GRCm39) missense probably benign 0.02
R0140:Aspm UTSW 1 139,408,379 (GRCm39) missense probably benign 0.00
R0195:Aspm UTSW 1 139,406,873 (GRCm39) missense probably damaging 1.00
R0217:Aspm UTSW 1 139,385,618 (GRCm39) missense possibly damaging 0.46
R0276:Aspm UTSW 1 139,406,209 (GRCm39) missense possibly damaging 0.95
R0309:Aspm UTSW 1 139,410,249 (GRCm39) splice site probably benign
R0466:Aspm UTSW 1 139,405,639 (GRCm39) missense probably damaging 1.00
R0520:Aspm UTSW 1 139,406,558 (GRCm39) missense possibly damaging 0.51
R0615:Aspm UTSW 1 139,415,027 (GRCm39) missense probably damaging 1.00
R0626:Aspm UTSW 1 139,419,339 (GRCm39) missense probably damaging 1.00
R0660:Aspm UTSW 1 139,385,502 (GRCm39) missense probably benign 0.03
R0751:Aspm UTSW 1 139,384,636 (GRCm39) splice site probably benign
R0830:Aspm UTSW 1 139,401,992 (GRCm39) missense probably damaging 0.99
R1109:Aspm UTSW 1 139,384,496 (GRCm39) missense probably damaging 0.99
R1114:Aspm UTSW 1 139,389,662 (GRCm39) splice site probably benign
R1130:Aspm UTSW 1 139,405,572 (GRCm39) missense possibly damaging 0.90
R1298:Aspm UTSW 1 139,385,157 (GRCm39) missense probably benign 0.01
R1386:Aspm UTSW 1 139,385,361 (GRCm39) missense probably benign 0.03
R1386:Aspm UTSW 1 139,406,710 (GRCm39) missense possibly damaging 0.80
R1557:Aspm UTSW 1 139,396,406 (GRCm39) missense probably benign 0.01
R1625:Aspm UTSW 1 139,408,777 (GRCm39) missense probably benign 0.01
R1728:Aspm UTSW 1 139,401,312 (GRCm39) missense probably benign
R1729:Aspm UTSW 1 139,401,312 (GRCm39) missense probably benign
R1730:Aspm UTSW 1 139,401,312 (GRCm39) missense probably benign
R1733:Aspm UTSW 1 139,384,855 (GRCm39) missense probably benign 0.27
R1739:Aspm UTSW 1 139,401,312 (GRCm39) missense probably benign
R1762:Aspm UTSW 1 139,401,312 (GRCm39) missense probably benign
R1783:Aspm UTSW 1 139,401,312 (GRCm39) missense probably benign
R1784:Aspm UTSW 1 139,401,312 (GRCm39) missense probably benign
R1793:Aspm UTSW 1 139,385,079 (GRCm39) missense probably benign 0.00
R1893:Aspm UTSW 1 139,407,605 (GRCm39) missense probably damaging 1.00
R1911:Aspm UTSW 1 139,405,832 (GRCm39) missense probably benign 0.06
R2103:Aspm UTSW 1 139,419,403 (GRCm39) missense probably damaging 0.99
R2128:Aspm UTSW 1 139,385,373 (GRCm39) missense probably benign 0.14
R2129:Aspm UTSW 1 139,385,373 (GRCm39) missense probably benign 0.14
R2239:Aspm UTSW 1 139,384,584 (GRCm39) missense possibly damaging 0.67
R2352:Aspm UTSW 1 139,385,300 (GRCm39) missense probably benign 0.02
R2353:Aspm UTSW 1 139,405,435 (GRCm39) missense probably damaging 1.00
R2380:Aspm UTSW 1 139,407,086 (GRCm39) missense probably damaging 1.00
R2413:Aspm UTSW 1 139,405,495 (GRCm39) missense probably damaging 1.00
R2421:Aspm UTSW 1 139,416,225 (GRCm39) missense possibly damaging 0.49
R3607:Aspm UTSW 1 139,408,406 (GRCm39) missense probably benign 0.13
R3711:Aspm UTSW 1 139,385,838 (GRCm39) missense probably benign 0.17
R3718:Aspm UTSW 1 139,418,165 (GRCm39) missense probably benign 0.31
R3718:Aspm UTSW 1 139,408,627 (GRCm39) missense probably benign 0.09
R3741:Aspm UTSW 1 139,406,357 (GRCm39) missense possibly damaging 0.47
R3788:Aspm UTSW 1 139,390,941 (GRCm39) missense probably damaging 1.00
R3838:Aspm UTSW 1 139,405,792 (GRCm39) missense probably benign 0.24
R3839:Aspm UTSW 1 139,405,792 (GRCm39) missense probably benign 0.24
R3849:Aspm UTSW 1 139,386,024 (GRCm39) missense probably benign 0.21
R4075:Aspm UTSW 1 139,402,023 (GRCm39) missense probably damaging 1.00
R4080:Aspm UTSW 1 139,398,493 (GRCm39) missense probably damaging 1.00
R4463:Aspm UTSW 1 139,382,748 (GRCm39) missense possibly damaging 0.95
R4537:Aspm UTSW 1 139,402,041 (GRCm39) missense probably benign 0.01
R4547:Aspm UTSW 1 139,405,925 (GRCm39) missense possibly damaging 0.75
R4573:Aspm UTSW 1 139,407,245 (GRCm39) missense probably damaging 0.98
R4680:Aspm UTSW 1 139,408,409 (GRCm39) missense probably benign 0.05
R4807:Aspm UTSW 1 139,405,657 (GRCm39) missense probably damaging 1.00
R4840:Aspm UTSW 1 139,398,269 (GRCm39) missense possibly damaging 0.83
R4854:Aspm UTSW 1 139,405,810 (GRCm39) nonsense probably null
R4859:Aspm UTSW 1 139,397,131 (GRCm39) missense probably damaging 1.00
R4893:Aspm UTSW 1 139,417,577 (GRCm39) critical splice donor site probably null
R4910:Aspm UTSW 1 139,419,281 (GRCm39) missense probably damaging 1.00
R4953:Aspm UTSW 1 139,399,472 (GRCm39) missense probably benign 0.00
R4974:Aspm UTSW 1 139,405,748 (GRCm39) missense probably benign 0.03
R4981:Aspm UTSW 1 139,398,498 (GRCm39) splice site probably null
R5082:Aspm UTSW 1 139,406,414 (GRCm39) nonsense probably null
R5223:Aspm UTSW 1 139,406,072 (GRCm39) missense probably damaging 1.00
R5268:Aspm UTSW 1 139,392,033 (GRCm39) missense probably damaging 1.00
R5371:Aspm UTSW 1 139,398,279 (GRCm39) nonsense probably null
R5377:Aspm UTSW 1 139,398,133 (GRCm39) splice site probably null
R5377:Aspm UTSW 1 139,385,221 (GRCm39) missense probably damaging 0.96
R5481:Aspm UTSW 1 139,384,799 (GRCm39) missense possibly damaging 0.85
R5513:Aspm UTSW 1 139,410,136 (GRCm39) missense probably damaging 1.00
R5578:Aspm UTSW 1 139,398,455 (GRCm39) missense probably damaging 1.00
R5649:Aspm UTSW 1 139,407,407 (GRCm39) missense probably benign
R5685:Aspm UTSW 1 139,415,026 (GRCm39) missense probably benign 0.10
R5695:Aspm UTSW 1 139,407,407 (GRCm39) missense probably benign
R5766:Aspm UTSW 1 139,406,740 (GRCm39) missense probably damaging 0.99
R5964:Aspm UTSW 1 139,382,965 (GRCm39) intron probably benign
R5993:Aspm UTSW 1 139,407,269 (GRCm39) missense probably benign 0.28
R6027:Aspm UTSW 1 139,390,794 (GRCm39) missense probably damaging 1.00
R6029:Aspm UTSW 1 139,408,728 (GRCm39) missense possibly damaging 0.83
R6102:Aspm UTSW 1 139,405,197 (GRCm39) nonsense probably null
R6188:Aspm UTSW 1 139,406,977 (GRCm39) missense possibly damaging 0.79
R6257:Aspm UTSW 1 139,409,791 (GRCm39) splice site probably null
R6433:Aspm UTSW 1 139,401,421 (GRCm39) missense probably damaging 1.00
R6682:Aspm UTSW 1 139,385,460 (GRCm39) missense possibly damaging 0.67
R6763:Aspm UTSW 1 139,398,255 (GRCm39) missense possibly damaging 0.64
R6798:Aspm UTSW 1 139,396,423 (GRCm39) missense possibly damaging 0.66
R6815:Aspm UTSW 1 139,407,880 (GRCm39) missense probably benign 0.04
R6854:Aspm UTSW 1 139,390,920 (GRCm39) missense possibly damaging 0.90
R6928:Aspm UTSW 1 139,407,944 (GRCm39) nonsense probably null
R6943:Aspm UTSW 1 139,408,280 (GRCm39) missense probably damaging 1.00
R6979:Aspm UTSW 1 139,408,223 (GRCm39) missense probably damaging 1.00
R6998:Aspm UTSW 1 139,397,210 (GRCm39) missense probably damaging 1.00
R7126:Aspm UTSW 1 139,408,541 (GRCm39) missense probably benign 0.27
R7237:Aspm UTSW 1 139,405,667 (GRCm39) missense possibly damaging 0.81
R7240:Aspm UTSW 1 139,406,389 (GRCm39) nonsense probably null
R7272:Aspm UTSW 1 139,386,066 (GRCm39) missense probably benign 0.14
R7427:Aspm UTSW 1 139,385,354 (GRCm39) missense probably benign 0.01
R7519:Aspm UTSW 1 139,418,074 (GRCm39) missense possibly damaging 0.53
R7776:Aspm UTSW 1 139,407,584 (GRCm39) missense possibly damaging 0.85
R7875:Aspm UTSW 1 139,382,872 (GRCm39) missense probably benign 0.02
R7883:Aspm UTSW 1 139,406,405 (GRCm39) missense possibly damaging 0.47
R7964:Aspm UTSW 1 139,408,424 (GRCm39) missense probably damaging 1.00
R8012:Aspm UTSW 1 139,385,202 (GRCm39) missense probably benign 0.03
R8029:Aspm UTSW 1 139,399,370 (GRCm39) missense probably benign 0.00
R8233:Aspm UTSW 1 139,385,042 (GRCm39) missense probably benign 0.28
R8277:Aspm UTSW 1 139,382,748 (GRCm39) missense probably damaging 1.00
R8345:Aspm UTSW 1 139,392,011 (GRCm39) nonsense probably null
R8491:Aspm UTSW 1 139,385,433 (GRCm39) missense probably damaging 0.98
R8511:Aspm UTSW 1 139,385,046 (GRCm39) missense probably damaging 1.00
R8557:Aspm UTSW 1 139,384,494 (GRCm39) missense probably benign 0.01
R8927:Aspm UTSW 1 139,418,125 (GRCm39) nonsense probably null
R8928:Aspm UTSW 1 139,418,125 (GRCm39) nonsense probably null
R8950:Aspm UTSW 1 139,406,690 (GRCm39) missense probably damaging 1.00
R9033:Aspm UTSW 1 139,405,865 (GRCm39) missense probably damaging 1.00
R9083:Aspm UTSW 1 139,421,436 (GRCm39) missense possibly damaging 0.70
R9133:Aspm UTSW 1 139,419,266 (GRCm39) missense probably damaging 1.00
R9160:Aspm UTSW 1 139,417,862 (GRCm39) missense probably damaging 1.00
R9179:Aspm UTSW 1 139,404,453 (GRCm39) missense probably damaging 1.00
R9265:Aspm UTSW 1 139,389,182 (GRCm39) missense probably benign 0.24
R9400:Aspm UTSW 1 139,407,641 (GRCm39) missense probably damaging 1.00
R9419:Aspm UTSW 1 139,384,923 (GRCm39) missense probably benign 0.29
R9454:Aspm UTSW 1 139,408,732 (GRCm39) missense probably benign 0.00
R9517:Aspm UTSW 1 139,407,167 (GRCm39) missense probably damaging 1.00
R9524:Aspm UTSW 1 139,408,607 (GRCm39) missense probably damaging 1.00
R9544:Aspm UTSW 1 139,385,523 (GRCm39) missense probably benign 0.01
R9640:Aspm UTSW 1 139,408,010 (GRCm39) missense possibly damaging 0.88
R9698:Aspm UTSW 1 139,389,646 (GRCm39) missense probably benign 0.28
R9790:Aspm UTSW 1 139,408,375 (GRCm39) missense probably damaging 0.98
R9791:Aspm UTSW 1 139,408,375 (GRCm39) missense probably damaging 0.98
R9794:Aspm UTSW 1 139,406,480 (GRCm39) missense probably damaging 0.99
X0063:Aspm UTSW 1 139,385,828 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GAAGCAGCTTTAGTTCAGTTTCTGCC -3'
(R):5'- ACGAAGTCGTTCACTAACCTTTTCGTC -3'

Sequencing Primer
(F):5'- CTGCCTTTGTCATCATGTAGTG -3'
(R):5'- GATGAATCATAGCAGGTATTCCTCCC -3'
Posted On 2014-05-23