Mutagenetix > Incidental Mutation

Incidental Mutation 'R1784:Aspm'

195984

Institutional Source

Beutler Lab

Gene Symbol

Aspm

Ensembl Gene

ENSMUSG00000033952

Gene Name

abnormal spindle microtubule assembly

Synonyms

Sha1, D330028K02Rik, Calmbp1, MCPH5, Aspm

MMRRC Submission

039815-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1784 (G1)

Quality Score

225

Status

Not validated

Chromosome

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 95.5%
20x: 93.2%

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: 193 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	T	C	16: 64,589,385 (GRCm39)	I90V	probably damaging	Het
Acacb	TGGGG	TGGG	5: 114,347,828 (GRCm39)		probably null	Het
Adamts17	C	T	7: 66,799,704 (GRCm39)	R1060*	probably null	Het
Adamts5	T	A	16: 85,674,803 (GRCm39)	K454*	probably null	Het
Adgrg6	T	C	10: 14,315,526 (GRCm39)	T593A	probably damaging	Het
Aldh4a1	A	G	4: 139,371,472 (GRCm39)	Y462C	probably damaging	Het
Ankrd12	G	T	17: 66,291,071 (GRCm39)	P1454Q	probably benign	Het
Ap1m1	T	A	8: 73,006,693 (GRCm39)	S230T	probably benign	Het
Atp6ap1l	T	A	13: 91,053,400 (GRCm39)	K4N	probably damaging	Het
Boc	T	C	16: 44,316,782 (GRCm39)	T454A	probably benign	Het
Bola1	C	T	3: 96,104,426 (GRCm39)	G56D	probably benign	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
Camsap2	C	T	1: 136,209,053 (GRCm39)	R802Q	probably benign	Het
Capn9	G	A	8: 125,332,450 (GRCm39)	G430R	possibly damaging	Het
Cbs	G	T	17: 31,839,923 (GRCm39)	A337E	probably benign	Het
Ccdc186	A	C	19: 56,797,652 (GRCm39)	H306Q	probably benign	Het
Cd180	T	C	13: 102,842,367 (GRCm39)	L471P	probably damaging	Het
Cd55	C	A	1: 130,387,370 (GRCm39)	A143S	probably benign	Het
Cd55	C	T	1: 130,377,160 (GRCm39)	V333I	probably benign	Het
Cdk12	T	C	11: 98,140,796 (GRCm39)		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
Chit1	A	G	1: 134,077,132 (GRCm39)	R312G	possibly damaging	Het
Chrna6	A	T	8: 27,896,812 (GRCm39)	M355K	possibly damaging	Het
Clcn1	T	A	6: 42,276,448 (GRCm39)	F360Y	possibly damaging	Het
Copa	T	A	1: 171,939,554 (GRCm39)	F597Y	probably benign	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
Crybg1	T	A	10: 43,880,015 (GRCm39)	Q391L	probably damaging	Het
Cwh43	T	C	5: 73,565,561 (GRCm39)	L42P	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
Ddx59	T	C	1: 136,344,791 (GRCm39)	V154A	probably benign	Het
Dnah17	C	T	11: 117,960,345 (GRCm39)	C2572Y	possibly damaging	Het
Dnah9	G	A	11: 65,975,846 (GRCm39)	T1401I	possibly damaging	Het
Dstyk	C	T	1: 132,384,722 (GRCm39)	L739F	probably damaging	Het
Elf2	A	T	3: 51,164,993 (GRCm39)	V277D	probably damaging	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	G	T	1: 133,304,784 (GRCm39)	A336S	probably benign	Het
Etnk2	C	T	1: 133,291,628 (GRCm39)	P43S	probably benign	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
Fat3	A	C	9: 15,907,611 (GRCm39)	V2797G	possibly damaging	Het
Fbxl6	C	T	15: 76,422,258 (GRCm39)	R137H	probably damaging	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	C	1: 130,732,364 (GRCm39)	N117T	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
Gabarap	C	T	11: 69,882,515 (GRCm39)		probably benign	Het
Galnt17	A	T	5: 131,179,801 (GRCm39)	H115Q	probably benign	Het
Gemin4	G	C	11: 76,101,876 (GRCm39)	P962A	probably 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
Gm12887	T	A	4: 121,473,715 (GRCm39)	D45V	probably benign	Het
Gse1	G	A	8: 121,294,992 (GRCm39)		probably benign	Het
Guk1	A	T	11: 59,076,138 (GRCm39)	V100E	probably damaging	Het
Heatr4	T	C	12: 84,014,346 (GRCm39)	I630M	probably benign	Het
Hectd4	A	T	5: 121,439,902 (GRCm39)	Y1134F	possibly damaging	Het
Ift20	G	A	11: 78,430,860 (GRCm39)	E68K	probably damaging	Het
Igfn1	G	A	1: 135,887,666 (GRCm39)	P2466L	probably damaging	Het
Igfn1	T	C	1: 135,926,421 (GRCm39)	I10V	unknown	Het
Igfn1	T	C	1: 135,926,363 (GRCm39)	E29G	probably benign	Het
Igfn1	G	A	1: 135,910,213 (GRCm39)	R124W	probably benign	Het
Igfn1	C	T	1: 135,907,653 (GRCm39)	A231T	probably benign	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
Ikbke	C	A	1: 131,193,674 (GRCm39)	A459S	probably benign	Het
Ikbke	T	C	1: 131,197,560 (GRCm39)	S447G	probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Itprid1	T	C	6: 55,945,526 (GRCm39)	F749S	probably benign	Het
Kcnh5	T	C	12: 75,184,465 (GRCm39)	D86G	probably benign	Het
Kcnt2	G	A	1: 140,282,285 (GRCm39)	S90N	probably benign	Het
Kif14	A	G	1: 136,396,017 (GRCm39)	N108D	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
Kif18b	A	G	11: 102,806,367 (GRCm39)		probably null	Het
Kif21b	A	G	1: 136,087,859 (GRCm39)	I983V	possibly damaging	Het
Kpna3	T	A	14: 61,605,150 (GRCm39)	E499V	probably benign	Het
Kremen1	GGG	GGGTGG	11: 5,151,792 (GRCm39)		probably benign	Het
Krt23	A	T	11: 99,383,790 (GRCm39)	V34D	probably damaging	Het
Lad1	C	T	1: 135,755,119 (GRCm39)	P132S	possibly damaging	Het
Lad1	C	T	1: 135,755,761 (GRCm39)	R346C	probably damaging	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
Lax1	T	C	1: 133,608,307 (GRCm39)	N145D	probably benign	Het
Lgr6	C	T	1: 134,931,214 (GRCm39)	S3N	probably benign	Het
Lgr6	G	T	1: 134,918,373 (GRCm39)	H263N	probably benign	Het
Lgr6	A	T	1: 134,915,747 (GRCm39)	S334T	probably benign	Het
Lgr6	C	T	1: 134,914,826 (GRCm39)	V641I	probably benign	Het
Lima1	G	T	15: 99,678,344 (GRCm39)	P539Q	possibly damaging	Het
Lmod1	C	T	1: 135,291,811 (GRCm39)	T222I	probably benign	Het
Megf10	T	C	18: 57,373,864 (GRCm39)		probably null	Het
Mrgbp	T	A	2: 180,227,242 (GRCm39)	N192K	probably damaging	Het
Mrgpra2b	A	G	7: 47,114,627 (GRCm39)	I35T	probably benign	Het
Mroh3	G	C	1: 136,119,882 (GRCm39)	Q440E	possibly damaging	Het
Mrpl3	C	T	9: 104,934,266 (GRCm39)	H130Y	probably benign	Het
Mybph	C	T	1: 134,125,218 (GRCm39)	R249C	probably benign	Het
Mycbp2	A	T	14: 103,392,614 (GRCm39)	C3206S	probably damaging	Het
Nav1	A	T	1: 135,512,465 (GRCm39)	D198E	possibly damaging	Het
Nbeal2	T	A	9: 110,459,925 (GRCm39)	K1844*	probably null	Het
Ndufaf7	A	T	17: 79,245,058 (GRCm39)	K59M	probably damaging	Het
Nr5a2	C	A	1: 136,879,863 (GRCm39)	R35L	probably benign	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
Or2f1	C	A	6: 42,721,069 (GRCm39)	L33M	possibly damaging	Het
Or8b12i	A	T	9: 20,082,209 (GRCm39)	Y219*	probably null	Het
Otoa	T	C	7: 120,724,662 (GRCm39)	V447A	probably benign	Het
Papss1	A	G	3: 131,311,728 (GRCm39)	N319D	probably benign	Het
Pcdhb3	G	A	18: 37,434,931 (GRCm39)	G299D	probably damaging	Het
Pcsk4	T	C	10: 80,159,404 (GRCm39)	D432G	probably damaging	Het
Pde4b	T	C	4: 102,462,457 (GRCm39)	I711T	probably benign	Het
Pde5a	G	T	3: 122,541,889 (GRCm39)	L126F	probably damaging	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
Pinx1	A	G	14: 64,115,559 (GRCm39)		probably null	Het
Plekha6	C	G	1: 133,215,584 (GRCm39)	T792S	probably benign	Het
Ppfia4	G	A	1: 134,227,059 (GRCm39)	P1159S	probably benign	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Prrx1	T	A	1: 163,089,536 (GRCm39)	N97I	probably damaging	Het
Ptpn7	A	G	1: 135,062,213 (GRCm39)	Q53R	probably benign	Het
Ptprc	A	G	1: 138,035,561 (GRCm39)	S405P	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
Rab29	A	G	1: 131,799,848 (GRCm39)	Q141R	probably benign	Het
Rbsn	A	T	6: 92,167,000 (GRCm39)	L548Q	possibly damaging	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	A	C	1: 133,284,195 (GRCm39)	K187Q	probably benign	Het
Ren1	C	T	1: 133,281,975 (GRCm39)	T32I	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
Rgs22	T	A	15: 36,087,582 (GRCm39)	K445N	probably damaging	Het
Rint1	T	A	5: 24,014,841 (GRCm39)	D352E	probably benign	Het
Rnpep	C	T	1: 135,190,834 (GRCm39)	A571T	possibly damaging	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
Septin4	A	T	11: 87,474,262 (GRCm39)	Q60L	probably benign	Het
Sis	A	T	3: 72,872,978 (GRCm39)	C53*	probably null	Het
Slain2	A	G	5: 73,114,957 (GRCm39)	H396R	probably damaging	Het
Slc22a5	G	A	11: 53,757,177 (GRCm39)	P491L	probably damaging	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
Stab2	T	G	10: 86,773,903 (GRCm39)	R809S	probably benign	Het
Tbc1d19	T	G	5: 53,986,714 (GRCm39)	I41S	probably damaging	Het
Tbc1d31	T	A	15: 57,827,316 (GRCm39)	H919Q	possibly damaging	Het
Thsd7b	G	C	1: 129,605,920 (GRCm39)	A554P	probably benign	Het
Thsd7b	A	C	1: 130,044,368 (GRCm39)	Q1116P	probably benign	Het
Thsd7b	C	T	1: 129,556,628 (GRCm39)	T328I	probably damaging	Het
Thsd7b	T	A	1: 129,595,674 (GRCm39)	F498Y	probably benign	Het
Tnfrsf25	T	A	4: 152,202,761 (GRCm39)		probably null	Het
Tnnt2	C	T	1: 135,773,244 (GRCm39)		probably benign	Het
Traf7	A	G	17: 24,731,353 (GRCm39)	F228L	probably damaging	Het
Trim32	T	A	4: 65,532,634 (GRCm39)	I397N	probably damaging	Het
Tubgcp2	T	C	7: 139,577,968 (GRCm39)	T779A	probably benign	Het
Ube2t	C	T	1: 134,899,905 (GRCm39)	A149V	probably benign	Het
Upf2	A	T	2: 6,032,261 (GRCm39)	S191C	probably damaging	Het
Usp42	T	C	5: 143,700,381 (GRCm39)	D1214G	probably damaging	Het
Vcam1	T	A	3: 115,908,164 (GRCm39)	I633L	probably benign	Het
Vmn2r73	T	C	7: 85,507,086 (GRCm39)	Y742C	probably damaging	Het
Vmn2r81	C	A	10: 79,106,489 (GRCm39)	T489K	probably benign	Het
Ypel1	C	G	16: 16,907,283 (GRCm39)		probably benign	Het
Zc3h11a	C	T	1: 133,552,359 (GRCm39)	V583I	probably benign	Het
Zc3h11a	G	A	1: 133,549,892 (GRCm39)	P695S	probably benign	Het
Zfp169	C	T	13: 48,643,295 (GRCm39)	A611T	possibly damaging	Het
Zfp281	GCGGCAGCTCCGGCAGC	GCGGCAGCTCCGGCAGCTCCGGCAGC	1: 136,553,091 (GRCm39)		probably benign	Het
Zp3r	A	G	1: 130,524,551 (GRCm39)	L164P	probably benign	Het
Zp3r	C	A	1: 130,547,151 (GRCm39)	E8D	possibly damaging	Het

Other mutations in Aspm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

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