Mutagenetix > Incidental Mutation

Incidental Mutation 'R0217:Aspm'

33595

Institutional Source

Beutler Lab

Gene Symbol

Aspm

Ensembl Gene

ENSMUSG00000033952

Gene Name

abnormal spindle microtubule assembly

Synonyms

Sha1, D330028K02Rik, Calmbp1, MCPH5, Aspm

MMRRC Submission

038466-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0217 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

139382510-139421829 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139385618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 421 (S421T)

Ref Sequence

ENSEMBL: ENSMUSP00000142880 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039867] [ENSMUST00000053364] [ENSMUST00000200083]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039867

SMART Domains

Protein: ENSMUSP00000045570
Gene: ENSMUSG00000033964

Domain	Start	End	E-Value	Type
low complexity region	70	81	N/A	INTRINSIC
BTB	89	183	7.06e-16	SMART
ZnF_C2H2	208	231	3.78e-1	SMART
low complexity region	234	245	N/A	INTRINSIC
low complexity region	265	279	N/A	INTRINSIC
low complexity region	301	327	N/A	INTRINSIC
ZnF_C2H2	360	382	4.17e-3	SMART
ZnF_C2H2	388	410	8.34e-3	SMART
ZnF_C2H2	421	444	2.67e-1	SMART
ZnF_C2H2	462	484	1.72e-4	SMART
ZnF_C2H2	490	513	1.41e0	SMART
ZnF_C2H2	517	540	1.12e-3	SMART
ZnF_C2H2	546	568	1.36e-2	SMART
ZnF_C2H2	574	596	2.91e-2	SMART
ZnF_C2H2	602	624	7.37e-4	SMART
ZnF_C2H2	630	653	3.39e-3	SMART
ZnF_C2H2	667	689	2.75e-3	SMART
ZnF_C2H2	695	717	3.16e-3	SMART
ZnF_C2H2	723	746	3.34e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053364
AA Change: S421T

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000059159
Gene: ENSMUSG00000033952
AA Change: S421T

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: ENSMUST00000197096

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199998

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200083
AA Change: S421T

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142880
Gene: ENSMUSG00000033952
AA Change: S421T

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (62/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	T	C	7: 143,447,956 (GRCm39)		probably benign	Het
Actr3	A	G	1: 125,335,150 (GRCm39)		probably benign	Het
Adamts13	A	G	2: 26,886,933 (GRCm39)		probably benign	Het
Afap1l1	A	G	18: 61,879,940 (GRCm39)	V310A	probably damaging	Het
Alms1	T	A	6: 85,599,912 (GRCm39)	S2048R	probably damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Ccdc150	T	G	1: 54,339,589 (GRCm39)	S478A	possibly damaging	Het
Ccnyl1	T	A	1: 64,752,257 (GRCm39)		probably benign	Het
Cdc23	T	C	18: 34,784,718 (GRCm39)	T15A	unknown	Het
Cdk19	C	T	10: 40,352,254 (GRCm39)		probably benign	Het
Comp	A	C	8: 70,831,558 (GRCm39)	D420A	probably damaging	Het
Ctnnal1	T	C	4: 56,813,230 (GRCm39)	H667R	probably benign	Het
Cyp20a1	C	A	1: 60,382,625 (GRCm39)		probably benign	Het
Eci3	A	C	13: 35,132,072 (GRCm39)	S259A	probably benign	Het
Fcnb	T	C	2: 27,969,689 (GRCm39)	D126G	probably benign	Het
Foxk1	T	C	5: 142,387,649 (GRCm39)	M124T	possibly damaging	Het
Gm12790	T	C	4: 101,825,231 (GRCm39)	Y61C	probably damaging	Het
Hmgcr	A	C	13: 96,788,488 (GRCm39)	I777S	probably damaging	Het
Hsdl2	A	G	4: 59,597,311 (GRCm39)	E100G	probably damaging	Het
Itgb2	G	T	10: 77,384,370 (GRCm39)		probably benign	Het
Jak2	T	A	19: 29,274,050 (GRCm39)		probably null	Het
Lrba	T	C	3: 86,550,029 (GRCm39)	S2333P	probably damaging	Het
Man1a2	A	G	3: 100,524,353 (GRCm39)	L365P	possibly damaging	Het
Map2k5	A	T	9: 63,164,257 (GRCm39)		probably null	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Megf8	T	A	7: 25,063,504 (GRCm39)	L2620Q	probably damaging	Het
Nf1	A	T	11: 79,319,400 (GRCm39)		probably benign	Het
Or11h7	A	G	14: 50,891,552 (GRCm39)	N286S	probably damaging	Het
Or1e30	T	A	11: 73,678,214 (GRCm39)	V150E	possibly damaging	Het
Or5p1	C	A	7: 107,916,505 (GRCm39)	H135N	probably benign	Het
Pank3	T	A	11: 35,668,555 (GRCm39)	D181E	probably benign	Het
Pip5k1a	A	G	3: 94,981,302 (GRCm39)		probably null	Het
Plag1	A	C	4: 3,904,379 (GRCm39)	S271A	probably benign	Het
Plxna2	T	A	1: 194,326,906 (GRCm39)	I280N	probably damaging	Het
Polr1a	T	C	6: 71,940,687 (GRCm39)	V1007A	probably benign	Het
Ppm1h	T	A	10: 122,756,640 (GRCm39)	D428E	probably damaging	Het
Prelid2	A	T	18: 42,068,317 (GRCm39)		probably benign	Het
Ptk2b	T	C	14: 66,393,830 (GRCm39)	Y881C	probably damaging	Het
Rptor	T	C	11: 119,785,738 (GRCm39)		probably benign	Het
Sbno1	T	C	5: 124,542,387 (GRCm39)		probably null	Het
Scaf4	T	C	16: 90,039,570 (GRCm39)	D843G	probably damaging	Het
Serpina3b	C	T	12: 104,096,986 (GRCm39)	A89V	probably damaging	Het
Serpinb9d	C	A	13: 33,382,005 (GRCm39)	T158N	possibly damaging	Het
Slc39a10	C	T	1: 46,874,700 (GRCm39)	V201I	probably benign	Het
Slc6a13	T	A	6: 121,301,279 (GRCm39)	N189K	probably damaging	Het
Smco1	G	T	16: 32,092,599 (GRCm39)	R90L	possibly damaging	Het
Stim1	T	A	7: 102,085,007 (GRCm39)	M653K	probably benign	Het
Stxbp1	T	C	2: 32,691,882 (GRCm39)	S437G	possibly damaging	Het
Stxbp3-ps	T	G	19: 9,536,496 (GRCm39)		noncoding transcript	Het
Tgtp1	A	C	11: 48,878,146 (GRCm39)	S186R	probably benign	Het
Trpc7	C	T	13: 56,937,581 (GRCm39)	W570*	probably null	Het
Trpv4	C	A	5: 114,772,722 (GRCm39)	R289L	possibly damaging	Het
Vmn2r82	A	G	10: 79,214,634 (GRCm39)	M206V	possibly damaging	Het
Wdr47	T	A	3: 108,544,336 (GRCm39)	V653E	probably damaging	Het
Zfp113	T	C	5: 138,148,953 (GRCm39)	R64G	probably benign	Het
Zfp661	C	T	2: 127,419,211 (GRCm39)	E310K	probably damaging	Het
Zfp735	T	A	11: 73,602,112 (GRCm39)	I352N	possibly damaging	Het
Zswim4	A	G	8: 84,939,293 (GRCm39)	L863P	probably damaging	Het
Zzef1	T	A	11: 72,779,894 (GRCm39)	I1889N	probably 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
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

Predicted Primers

PCR Primer
(F):5'- CCCGTTTTGTCGCCAACACAATTTG -3'
(R):5'- GCGTTACTTCATCCCTGTAGCTCAG -3'

Sequencing Primer
(F):5'- GTCGCCAACACAATTTGTAAAGG -3'
(R):5'- GAATGAAAACCTTTCTCTCTCAGGC -3'

Posted On

2013-05-09