Incidental Mutation 'IGL02519:Aspm'
ID 296902
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aspm
Ensembl Gene ENSMUSG00000033952
Gene Name abnormal spindle microtubule assembly
Synonyms Sha1, D330028K02Rik, Calmbp1, MCPH5, Aspm
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02519
Quality Score
Status
Chromosome 1
Chromosomal Location 139382510-139421829 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 139389665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000059159
Gene: ENSMUSG00000033952

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: ENSMUST00000197096
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199998
Predicted Effect probably benign
Transcript: ENSMUST00000200083
SMART Domains Protein: ENSMUSP00000142880
Gene: ENSMUSG00000033952

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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 A T 2: 26,868,687 (GRCm39) I224F probably damaging Het
Adamts17 A G 7: 66,774,721 (GRCm39) T947A possibly damaging Het
Ankfn1 T C 11: 89,296,504 (GRCm39) E75G probably benign Het
Arfgef1 G T 1: 10,279,893 (GRCm39) H225N probably benign Het
Arsi A G 18: 61,050,139 (GRCm39) S341G probably damaging Het
Bltp1 A G 3: 36,949,464 (GRCm39) E370G probably damaging Het
Cacna1i C T 15: 80,246,075 (GRCm39) R490* probably null Het
Cd33 C T 7: 43,178,153 (GRCm39) probably benign Het
Clmn T C 12: 104,758,112 (GRCm39) I135V probably damaging Het
Crebbp A T 16: 3,919,457 (GRCm39) N795K possibly damaging Het
Dhps A G 8: 85,799,928 (GRCm39) D126G probably damaging Het
Dlg2 G T 7: 91,589,323 (GRCm39) V196L possibly damaging Het
Dsg1c T A 18: 20,416,790 (GRCm39) I897N probably damaging Het
Dzip3 A G 16: 48,748,759 (GRCm39) L1059S probably damaging Het
Epha7 A T 4: 28,821,494 (GRCm39) T220S possibly damaging Het
Fgf17 A G 14: 70,875,968 (GRCm39) I88T probably damaging Het
G3bp2 A G 5: 92,214,383 (GRCm39) V137A possibly damaging Het
Gnal G A 18: 67,221,836 (GRCm39) E80K unknown Het
Hectd1 T G 12: 51,815,894 (GRCm39) S1393R probably damaging Het
Igsf6 T C 7: 120,667,496 (GRCm39) I173M possibly damaging Het
Il2ra A C 2: 11,687,901 (GRCm39) E227A possibly damaging Het
Iqcf6 C T 9: 106,504,479 (GRCm39) R48C probably damaging Het
Kdm3a G T 6: 71,588,570 (GRCm39) Q480K probably benign Het
Larp4b C A 13: 9,208,616 (GRCm39) A423E probably benign Het
Magea6 T C X: 153,707,741 (GRCm39) D105G probably benign Het
Nop53 C A 7: 15,673,197 (GRCm39) probably benign Het
Or14a260 A T 7: 85,984,789 (GRCm39) F272I probably benign Het
Or1j10 T C 2: 36,267,325 (GRCm39) L179P possibly damaging Het
Pgghg A G 7: 140,524,894 (GRCm39) T352A possibly damaging Het
Setd2 T C 9: 110,382,184 (GRCm39) S1464P probably damaging Het
Sspo C A 6: 48,461,762 (GRCm39) T3609N probably damaging Het
Sulf1 T A 1: 12,908,587 (GRCm39) Y533* probably null Het
Thsd7b A G 1: 129,540,932 (GRCm39) S346G probably benign Het
Tmem161b T A 13: 84,442,863 (GRCm39) L261Q probably damaging Het
Tmem63b T A 17: 45,976,134 (GRCm39) T493S possibly damaging Het
Tmprss11d A T 5: 86,454,164 (GRCm39) C214S probably damaging Het
Trim16 A T 11: 62,724,905 (GRCm39) E144V possibly damaging Het
Unc13d T C 11: 115,961,359 (GRCm39) Y356C probably damaging Het
Urgcp A T 11: 5,667,745 (GRCm39) F198I probably benign Het
Vmn2r111 T C 17: 22,767,320 (GRCm39) I726V possibly damaging Het
Zzz3 A T 3: 152,133,027 (GRCm39) E28D probably damaging 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
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 1 139,406,710 (GRCm39) missense possibly damaging 0.80
R1386:Aspm UTSW 1 139,385,361 (GRCm39) missense probably benign 0.03
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
R1785: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
Posted On 2015-04-16