Mutagenetix > Incidental Mutation

Incidental Mutation 'R6433:Aspm'

518619

Institutional Source

Beutler Lab

Gene Symbol

Aspm

Ensembl Gene

ENSMUSG00000033952

Gene Name

abnormal spindle microtubule assembly

Synonyms

Aspm, Sha1, MCPH5, D330028K02Rik, Calmbp1

MMRRC Submission

044571-MU

Accession Numbers

Genbank: NM_009791; MGI: 1334448

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6433 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139454772-139494091 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139473683 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 1147 (L1147S)

Ref Sequence

ENSEMBL: ENSMUSP00000142880 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000053364
AA Change: L1147S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059159
Gene: ENSMUSG00000033952
AA Change: L1147S

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 damaging
Transcript: ENSMUST00000200083
AA Change: L1147S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142880
Gene: ENSMUSG00000033952
AA Change: L1147S

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	A	17: 13,881,299	D1016E	probably damaging	Het
Aplnr	A	T	2: 85,136,673	Q14L	probably benign	Het
Atad2b	A	G	12: 4,952,642	T337A	possibly damaging	Het
Atrn	A	G	2: 131,023,027	E1358G	probably damaging	Het
Caml	C	A	13: 55,623,249	S53R	possibly damaging	Het
Cd180	T	G	13: 102,705,633	S396A	probably benign	Het
Cdhr2	A	G	13: 54,718,512	T344A	probably damaging	Het
Cyp4a31	A	C	4: 115,570,269	D224A	probably damaging	Het
Dhx36	T	C	3: 62,484,974	T544A	probably damaging	Het
Dnah14	A	G	1: 181,651,657	K1528E	probably damaging	Het
Dnpep	T	A	1: 75,315,378	K199N	probably benign	Het
Dsc2	C	T	18: 20,051,175		probably null	Het
Efl1	T	A	7: 82,674,568	D239E	probably damaging	Het
Elovl4	A	G	9: 83,785,178	V42A	possibly damaging	Het
Exoc3	T	C	13: 74,189,187	T432A	possibly damaging	Het
Fam98c	A	G	7: 29,156,128		probably null	Het
Fbln2	G	A	6: 91,233,272	G66D	probably damaging	Het
Fchsd1	G	A	18: 37,964,084	T410I	possibly damaging	Het
Flcn	T	C	11: 59,801,082	D247G	probably damaging	Het
Galnt16	T	C	12: 80,575,903	V127A	probably benign	Het
H2-Ob	A	T	17: 34,243,886		probably null	Het
Has2	G	A	15: 56,667,798	S507F	possibly damaging	Het
Ido2	T	A	8: 24,533,923	M300L	probably damaging	Het
Itga10	T	C	3: 96,658,041		probably null	Het
Klra9	G	T	6: 130,179,032	Y253*	probably null	Het
Mfsd2a	A	G	4: 122,950,457	V299A	probably benign	Het
Mybpc1	T	C	10: 88,560,355	D210G	probably damaging	Het
Ndrg1	A	T	15: 66,933,872	M128K	probably damaging	Het
Obscn	T	A	11: 59,051,558	T5091S	probably benign	Het
Olfr137	A	G	17: 38,305,413	L16P	probably damaging	Het
Pex5	A	T	6: 124,413,613	M91K	possibly damaging	Het
Phlpp2	G	T	8: 109,934,685	A810S	probably benign	Het
Pla2g7	G	C	17: 43,599,126	A174P	probably damaging	Het
Plxna4	C	T	6: 32,215,678	V783M	probably damaging	Het
Poll	A	T	19: 45,553,604	M421K	probably benign	Het
Ppfia2	C	A	10: 106,913,698	S1148R	possibly damaging	Het
Prkg1	A	G	19: 30,781,346	F280S	probably benign	Het
Rdh10	G	A	1: 16,107,855	C117Y	probably damaging	Het
Rtl1	C	A	12: 109,595,196	A70S	unknown	Het
Scgb2b3	A	T	7: 31,359,067	L104I	probably benign	Het
Sh3tc1	T	C	5: 35,706,597	R749G	probably damaging	Het
Skint4	A	G	4: 112,146,510	K380R	probably benign	Het
Smtnl1	A	C	2: 84,818,368	S181A	probably benign	Het
Spata31d1b	T	C	13: 59,717,185	S716P	probably damaging	Het
Spc25	A	G	2: 69,206,102		probably benign	Het
Stab2	C	T	10: 86,901,567		probably null	Het
Timm22	T	C	11: 76,409,744	V114A	possibly damaging	Het
Timp4	A	G	6: 115,247,220	C163R	probably damaging	Het
Toporsl	T	A	4: 52,611,548	N480K	possibly damaging	Het
Tpo	T	C	12: 30,084,754	E735G	probably benign	Het
Trpm3	A	G	19: 22,901,305	D692G	probably damaging	Het
Ttn	T	C	2: 76,751,714	H22945R	probably damaging	Het
Vmn2r6	A	T	3: 64,547,380	Y499*	probably null	Het
Vwa1	G	A	4: 155,772,769	H191Y	probably benign	Het

Other mutations in Aspm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Aspm	APN	1	139,478,691 (GRCm38)	missense	probably damaging	1.00
IGL00594:Aspm	APN	1	139,487,422 (GRCm38)	splice site	probably benign
IGL00808:Aspm	APN	1	139,461,476 (GRCm38)	missense	probably benign	0.03
IGL00897:Aspm	APN	1	139,477,407 (GRCm38)	missense	probably damaging	0.98
IGL01024:Aspm	APN	1	139,478,124 (GRCm38)	missense	possibly damaging	0.66
IGL01410:Aspm	APN	1	139,482,444 (GRCm38)	missense	probably benign	0.25
IGL01588:Aspm	APN	1	139,478,162 (GRCm38)	missense	probably benign	0.11
IGL01610:Aspm	APN	1	139,489,670 (GRCm38)	nonsense	probably null
IGL01633:Aspm	APN	1	139,480,836 (GRCm38)	missense	possibly damaging	0.93
IGL01982:Aspm	APN	1	139,491,588 (GRCm38)	missense	probably benign	0.12
IGL02429:Aspm	APN	1	139,479,810 (GRCm38)	missense	probably benign	0.27
IGL02468:Aspm	APN	1	139,480,950 (GRCm38)	missense	probably damaging	1.00
IGL02519:Aspm	APN	1	139,461,927 (GRCm38)	splice site	probably benign
IGL02526:Aspm	APN	1	139,489,719 (GRCm38)	missense	probably benign	0.03
IGL02716:Aspm	APN	1	139,479,687 (GRCm38)	missense	probably damaging	1.00
IGL02876:Aspm	APN	1	139,473,653 (GRCm38)	missense	probably damaging	1.00
IGL02953:Aspm	APN	1	139,457,419 (GRCm38)	missense	probably benign	0.01
IGL03275:Aspm	APN	1	139,487,295 (GRCm38)	missense	probably damaging	1.00
Stemware	UTSW	1	139,477,459 (GRCm38)	nonsense	probably null
3-1:Aspm	UTSW	1	139,457,541 (GRCm38)	missense	probably benign
R0016:Aspm	UTSW	1	139,479,544 (GRCm38)	missense	probably benign	0.01
R0016:Aspm	UTSW	1	139,479,544 (GRCm38)	missense	probably benign	0.01
R0106:Aspm	UTSW	1	139,476,876 (GRCm38)	missense	probably benign	0.02
R0106:Aspm	UTSW	1	139,476,876 (GRCm38)	missense	probably benign	0.02
R0140:Aspm	UTSW	1	139,480,641 (GRCm38)	missense	probably benign	0.00
R0195:Aspm	UTSW	1	139,479,135 (GRCm38)	missense	probably damaging	1.00
R0217:Aspm	UTSW	1	139,457,880 (GRCm38)	missense	possibly damaging	0.46
R0276:Aspm	UTSW	1	139,478,471 (GRCm38)	missense	possibly damaging	0.95
R0309:Aspm	UTSW	1	139,482,511 (GRCm38)	splice site	probably benign
R0466:Aspm	UTSW	1	139,477,901 (GRCm38)	missense	probably damaging	1.00
R0520:Aspm	UTSW	1	139,478,820 (GRCm38)	missense	possibly damaging	0.51
R0615:Aspm	UTSW	1	139,487,289 (GRCm38)	missense	probably damaging	1.00
R0626:Aspm	UTSW	1	139,491,601 (GRCm38)	missense	probably damaging	1.00
R0660:Aspm	UTSW	1	139,457,764 (GRCm38)	missense	probably benign	0.03
R0751:Aspm	UTSW	1	139,456,898 (GRCm38)	splice site	probably benign
R0830:Aspm	UTSW	1	139,474,254 (GRCm38)	missense	probably damaging	0.99
R1109:Aspm	UTSW	1	139,456,758 (GRCm38)	missense	probably damaging	0.99
R1114:Aspm	UTSW	1	139,461,924 (GRCm38)	splice site	probably benign
R1130:Aspm	UTSW	1	139,477,834 (GRCm38)	missense	possibly damaging	0.90
R1298:Aspm	UTSW	1	139,457,419 (GRCm38)	missense	probably benign	0.01
R1386:Aspm	UTSW	1	139,457,623 (GRCm38)	missense	probably benign	0.03
R1386:Aspm	UTSW	1	139,478,972 (GRCm38)	missense	possibly damaging	0.80
R1557:Aspm	UTSW	1	139,468,668 (GRCm38)	missense	probably benign	0.01
R1625:Aspm	UTSW	1	139,481,039 (GRCm38)	missense	probably benign	0.01
R1728:Aspm	UTSW	1	139,473,574 (GRCm38)	missense	probably benign
R1729:Aspm	UTSW	1	139,473,574 (GRCm38)	missense	probably benign
R1730:Aspm	UTSW	1	139,473,574 (GRCm38)	missense	probably benign
R1733:Aspm	UTSW	1	139,457,117 (GRCm38)	missense	probably benign	0.27
R1739:Aspm	UTSW	1	139,473,574 (GRCm38)	missense	probably benign
R1762:Aspm	UTSW	1	139,473,574 (GRCm38)	missense	probably benign
R1783:Aspm	UTSW	1	139,473,574 (GRCm38)	missense	probably benign
R1784:Aspm	UTSW	1	139,473,574 (GRCm38)	missense	probably benign
R1785:Aspm	UTSW	1	139,473,574 (GRCm38)	missense	probably benign
R1793:Aspm	UTSW	1	139,457,341 (GRCm38)	missense	probably benign	0.00
R1893:Aspm	UTSW	1	139,479,867 (GRCm38)	missense	probably damaging	1.00
R1911:Aspm	UTSW	1	139,478,094 (GRCm38)	missense	probably benign	0.06
R2103:Aspm	UTSW	1	139,491,665 (GRCm38)	missense	probably damaging	0.99
R2128:Aspm	UTSW	1	139,457,635 (GRCm38)	missense	probably benign	0.14
R2129:Aspm	UTSW	1	139,457,635 (GRCm38)	missense	probably benign	0.14
R2239:Aspm	UTSW	1	139,456,846 (GRCm38)	missense	possibly damaging	0.67
R2352:Aspm	UTSW	1	139,457,562 (GRCm38)	missense	probably benign	0.02
R2353:Aspm	UTSW	1	139,477,697 (GRCm38)	missense	probably damaging	1.00
R2380:Aspm	UTSW	1	139,479,348 (GRCm38)	missense	probably damaging	1.00
R2413:Aspm	UTSW	1	139,477,757 (GRCm38)	missense	probably damaging	1.00
R2421:Aspm	UTSW	1	139,488,487 (GRCm38)	missense	possibly damaging	0.49
R3607:Aspm	UTSW	1	139,480,668 (GRCm38)	missense	probably benign	0.13
R3711:Aspm	UTSW	1	139,458,100 (GRCm38)	missense	probably benign	0.17
R3718:Aspm	UTSW	1	139,490,427 (GRCm38)	missense	probably benign	0.31
R3718:Aspm	UTSW	1	139,480,889 (GRCm38)	missense	probably benign	0.09
R3741:Aspm	UTSW	1	139,478,619 (GRCm38)	missense	possibly damaging	0.47
R3788:Aspm	UTSW	1	139,463,203 (GRCm38)	missense	probably damaging	1.00
R3838:Aspm	UTSW	1	139,478,054 (GRCm38)	missense	probably benign	0.24
R3839:Aspm	UTSW	1	139,478,054 (GRCm38)	missense	probably benign	0.24
R3849:Aspm	UTSW	1	139,458,286 (GRCm38)	missense	probably benign	0.21
R4075:Aspm	UTSW	1	139,474,285 (GRCm38)	missense	probably damaging	1.00
R4080:Aspm	UTSW	1	139,470,755 (GRCm38)	missense	probably damaging	1.00
R4463:Aspm	UTSW	1	139,455,010 (GRCm38)	missense	possibly damaging	0.95
R4537:Aspm	UTSW	1	139,474,303 (GRCm38)	missense	probably benign	0.01
R4547:Aspm	UTSW	1	139,478,187 (GRCm38)	missense	possibly damaging	0.75
R4573:Aspm	UTSW	1	139,479,507 (GRCm38)	missense	probably damaging	0.98
R4680:Aspm	UTSW	1	139,480,671 (GRCm38)	missense	probably benign	0.05
R4807:Aspm	UTSW	1	139,477,919 (GRCm38)	missense	probably damaging	1.00
R4840:Aspm	UTSW	1	139,470,531 (GRCm38)	missense	possibly damaging	0.83
R4854:Aspm	UTSW	1	139,478,072 (GRCm38)	nonsense	probably null
R4859:Aspm	UTSW	1	139,469,393 (GRCm38)	missense	probably damaging	1.00
R4893:Aspm	UTSW	1	139,489,839 (GRCm38)	critical splice donor site	probably null
R4910:Aspm	UTSW	1	139,491,543 (GRCm38)	missense	probably damaging	1.00
R4953:Aspm	UTSW	1	139,471,734 (GRCm38)	missense	probably benign	0.00
R4974:Aspm	UTSW	1	139,478,010 (GRCm38)	missense	probably benign	0.03
R4981:Aspm	UTSW	1	139,470,760 (GRCm38)	splice site	probably null
R5082:Aspm	UTSW	1	139,478,676 (GRCm38)	nonsense	probably null
R5223:Aspm	UTSW	1	139,478,334 (GRCm38)	missense	probably damaging	1.00
R5268:Aspm	UTSW	1	139,464,295 (GRCm38)	missense	probably damaging	1.00
R5371:Aspm	UTSW	1	139,470,541 (GRCm38)	nonsense	probably null
R5377:Aspm	UTSW	1	139,470,395 (GRCm38)	splice site	probably null
R5377:Aspm	UTSW	1	139,457,483 (GRCm38)	missense	probably damaging	0.96
R5481:Aspm	UTSW	1	139,457,061 (GRCm38)	missense	possibly damaging	0.85
R5513:Aspm	UTSW	1	139,482,398 (GRCm38)	missense	probably damaging	1.00
R5578:Aspm	UTSW	1	139,470,717 (GRCm38)	missense	probably damaging	1.00
R5649:Aspm	UTSW	1	139,479,669 (GRCm38)	missense	probably benign
R5685:Aspm	UTSW	1	139,487,288 (GRCm38)	missense	probably benign	0.10
R5695:Aspm	UTSW	1	139,479,669 (GRCm38)	missense	probably benign
R5766:Aspm	UTSW	1	139,479,002 (GRCm38)	missense	probably damaging	0.99
R5964:Aspm	UTSW	1	139,455,227 (GRCm38)	intron	probably benign
R5993:Aspm	UTSW	1	139,479,531 (GRCm38)	missense	probably benign	0.28
R6027:Aspm	UTSW	1	139,463,056 (GRCm38)	missense	probably damaging	1.00
R6029:Aspm	UTSW	1	139,480,990 (GRCm38)	missense	possibly damaging	0.83
R6102:Aspm	UTSW	1	139,477,459 (GRCm38)	nonsense	probably null
R6188:Aspm	UTSW	1	139,479,239 (GRCm38)	missense	possibly damaging	0.79
R6257:Aspm	UTSW	1	139,482,053 (GRCm38)	splice site	probably null
R6682:Aspm	UTSW	1	139,457,722 (GRCm38)	missense	possibly damaging	0.67
R6763:Aspm	UTSW	1	139,470,517 (GRCm38)	missense	possibly damaging	0.64
R6798:Aspm	UTSW	1	139,468,685 (GRCm38)	missense	possibly damaging	0.66
R6815:Aspm	UTSW	1	139,480,142 (GRCm38)	missense	probably benign	0.04
R6854:Aspm	UTSW	1	139,463,182 (GRCm38)	missense	possibly damaging	0.90
R6928:Aspm	UTSW	1	139,480,206 (GRCm38)	nonsense	probably null
R6943:Aspm	UTSW	1	139,480,542 (GRCm38)	missense	probably damaging	1.00
R6979:Aspm	UTSW	1	139,480,485 (GRCm38)	missense	probably damaging	1.00
R6998:Aspm	UTSW	1	139,469,472 (GRCm38)	missense	probably damaging	1.00
R7126:Aspm	UTSW	1	139,480,803 (GRCm38)	missense	probably benign	0.27
R7237:Aspm	UTSW	1	139,477,929 (GRCm38)	missense	possibly damaging	0.81
R7240:Aspm	UTSW	1	139,478,651 (GRCm38)	nonsense	probably null
R7272:Aspm	UTSW	1	139,458,328 (GRCm38)	missense	probably benign	0.14
R7427:Aspm	UTSW	1	139,457,616 (GRCm38)	missense	probably benign	0.01
R7519:Aspm	UTSW	1	139,490,336 (GRCm38)	missense	possibly damaging	0.53
R7776:Aspm	UTSW	1	139,479,846 (GRCm38)	missense	possibly damaging	0.85
R7875:Aspm	UTSW	1	139,455,134 (GRCm38)	missense	probably benign	0.02
R7883:Aspm	UTSW	1	139,478,667 (GRCm38)	missense	possibly damaging	0.47
R7964:Aspm	UTSW	1	139,480,686 (GRCm38)	missense	probably damaging	1.00
R8012:Aspm	UTSW	1	139,457,464 (GRCm38)	missense	probably benign	0.03
R8029:Aspm	UTSW	1	139,471,632 (GRCm38)	missense	probably benign	0.00
R8233:Aspm	UTSW	1	139,457,304 (GRCm38)	missense	probably benign	0.28
R8277:Aspm	UTSW	1	139,455,010 (GRCm38)	missense	probably damaging	1.00
R8345:Aspm	UTSW	1	139,464,273 (GRCm38)	nonsense	probably null
R8491:Aspm	UTSW	1	139,457,695 (GRCm38)	missense	probably damaging	0.98
R8511:Aspm	UTSW	1	139,457,308 (GRCm38)	missense	probably damaging	1.00
R8557:Aspm	UTSW	1	139,456,756 (GRCm38)	missense	probably benign	0.01
R8927:Aspm	UTSW	1	139,490,387 (GRCm38)	nonsense	probably null
R8928:Aspm	UTSW	1	139,490,387 (GRCm38)	nonsense	probably null
R8950:Aspm	UTSW	1	139,478,952 (GRCm38)	missense	probably damaging	1.00
R9033:Aspm	UTSW	1	139,478,127 (GRCm38)	missense	probably damaging	1.00
R9083:Aspm	UTSW	1	139,493,698 (GRCm38)	missense	possibly damaging	0.70
R9133:Aspm	UTSW	1	139,491,528 (GRCm38)	missense	probably damaging	1.00
R9160:Aspm	UTSW	1	139,490,124 (GRCm38)	missense	probably damaging	1.00
R9179:Aspm	UTSW	1	139,476,715 (GRCm38)	missense	probably damaging	1.00
R9265:Aspm	UTSW	1	139,461,444 (GRCm38)	missense	probably benign	0.24
R9400:Aspm	UTSW	1	139,479,903 (GRCm38)	missense	probably damaging	1.00
R9419:Aspm	UTSW	1	139,457,185 (GRCm38)	missense	probably benign	0.29
R9454:Aspm	UTSW	1	139,480,994 (GRCm38)	missense	probably benign	0.00
R9517:Aspm	UTSW	1	139,479,429 (GRCm38)	missense	probably damaging	1.00
R9524:Aspm	UTSW	1	139,480,869 (GRCm38)	missense	probably damaging	1.00
R9544:Aspm	UTSW	1	139,457,785 (GRCm38)	missense	probably benign	0.01
R9640:Aspm	UTSW	1	139,480,272 (GRCm38)	missense	possibly damaging	0.88
R9698:Aspm	UTSW	1	139,461,908 (GRCm38)	missense	probably benign	0.28
R9790:Aspm	UTSW	1	139,480,637 (GRCm38)	missense	probably damaging	0.98
R9791:Aspm	UTSW	1	139,480,637 (GRCm38)	missense	probably damaging	0.98
R9794:Aspm	UTSW	1	139,478,742 (GRCm38)	missense	probably damaging	0.99
X0063:Aspm	UTSW	1	139,458,090 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AACGCTGTTTTGAGAGATGCTG -3'
(R):5'- AGCTCTTTGTACATTTCTGGAGTAC -3'

Sequencing Primer
(F):5'- GTTTTGAGAGATGCTGTCCAACAAAG -3'
(R):5'- GACTAAAGGGACTAACCGTG -3'

Posted On

2018-05-24