Mutagenetix > Incidental Mutation

Incidental Mutation 'R4840:Aspm'

371689

Institutional Source

Beutler Lab

Gene Symbol

Aspm

Ensembl Gene

ENSMUSG00000033952

Gene Name

abnormal spindle microtubule assembly

Synonyms

Aspm, Sha1, MCPH5, D330028K02Rik, Calmbp1

MMRRC Submission

042453-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4840 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139454772-139494091 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139470531 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 978 (D978E)

Ref Sequence

ENSEMBL: ENSMUSP00000142880 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053364
AA Change: D978E

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000059159
Gene: ENSMUSG00000033952
AA Change: D978E

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

possibly damaging
Transcript: ENSMUST00000200083
AA Change: D978E

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142880
Gene: ENSMUSG00000033952
AA Change: D978E

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: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

97% (114/117)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	C	A	1: 86,046,444 (GRCm38)	T161K	probably benign	Het
Actn3	G	A	19: 4,864,511 (GRCm38)	R530W	probably damaging	Het
Alg11	C	T	8: 22,068,010 (GRCm38)	A404V	possibly damaging	Het
Alkbh8	T	A	9: 3,369,751 (GRCm38)	V340D	probably damaging	Het
Arhgef12	T	C	9: 42,975,068 (GRCm38)	H1166R	probably benign	Het
Bod1l	C	T	5: 41,818,472 (GRCm38)	G1833D	probably damaging	Het
Brd3	A	G	2: 27,449,239 (GRCm38)	V676A	possibly damaging	Het
Brip1	G	A	11: 86,146,183 (GRCm38)	T454I	possibly damaging	Het
C3ar1	T	C	6: 122,850,764 (GRCm38)	I165V	probably benign	Het
Camta1	T	A	4: 151,144,407 (GRCm38)	Q656L	probably benign	Het
Casp14	A	T	10: 78,713,344 (GRCm38)	L256*	probably null	Het
Cdh23	G	T	10: 60,419,777 (GRCm38)	H773Q	possibly damaging	Het
Chd1	G	T	17: 15,768,754 (GRCm38)	D1590Y	probably damaging	Het
Chd1	G	A	17: 15,768,753 (GRCm38)	W1589*	probably null	Het
Cldn19	A	G	4: 119,255,754 (GRCm38)	Q61R	probably damaging	Het
Cyp2a22	A	G	7: 26,932,524 (GRCm38)	S436P	probably benign	Het
Emc10	A	C	7: 44,492,627 (GRCm38)	V124G	probably damaging	Het
Enam	A	T	5: 88,503,026 (GRCm38)	D723V	probably benign	Het
Eps8	C	A	6: 137,527,130 (GRCm38)	Q158H	probably damaging	Het
Ercc6	G	A	14: 32,541,296 (GRCm38)	D486N	probably damaging	Het
Fasn	T	C	11: 120,813,059 (GRCm38)	E1485G	possibly damaging	Het
Fat2	T	C	11: 55,279,018 (GRCm38)	K2972E	probably benign	Het
Fbxw28	T	C	9: 109,339,534 (GRCm38)	K30R	probably null	Het
Flot2	T	A	11: 78,057,513 (GRCm38)	L164Q	probably damaging	Het
Fsip2	A	T	2: 82,949,395 (GRCm38)	I162L	probably benign	Het
Fsip2	A	T	2: 82,985,471 (GRCm38)	L3849F	probably benign	Het
Gabrb1	C	G	5: 71,700,811 (GRCm38)	P60R	probably damaging	Het
Galnt14	T	C	17: 73,504,898 (GRCm38)	R443G	probably benign	Het
Gas8	C	T	8: 123,531,014 (GRCm38)	T400M	probably benign	Het
Gfap	T	C	11: 102,894,388 (GRCm38)	Y254C	probably damaging	Het
Git2	A	G	5: 114,745,482 (GRCm38)	S396P	probably damaging	Het
Glb1l3	A	T	9: 26,829,053 (GRCm38)	M327K	probably benign	Het
Gm10715	A	C	9: 3,038,062 (GRCm38)		probably benign	Het
Gm10787	G	A	10: 77,022,007 (GRCm38)		noncoding transcript	Het
Gm1123	T	A	9: 99,018,569 (GRCm38)	D78V	probably damaging	Het
Gm27013	T	C	6: 130,678,116 (GRCm38)	T128A	probably benign	Het
Gpbp1	A	G	13: 111,440,630 (GRCm38)		probably null	Het
Gphn	G	A	12: 78,522,955 (GRCm38)		probably null	Het
Gpr157	A	G	4: 150,102,366 (GRCm38)	E317G	probably benign	Het
Gsdmc4	T	A	15: 63,893,747 (GRCm38)	M318L	probably benign	Het
Gtf2f2	A	T	14: 76,010,691 (GRCm38)	W19R	probably damaging	Het
Gvin-ps3	T	C	7: 106,081,420 (GRCm38)		noncoding transcript	Het
Helb	A	G	10: 120,084,858 (GRCm38)	V1060A	probably benign	Het
Igfn1	C	T	1: 135,968,040 (GRCm38)	G1596D	probably benign	Het
Il1rl2	T	C	1: 40,327,387 (GRCm38)	I27T	possibly damaging	Het
Inpp5j	A	G	11: 3,499,676 (GRCm38)	V702A	probably damaging	Het
Kmt2d	A	C	15: 98,861,894 (GRCm38)	V1161G	unknown	Het
Krtap1-3	T	G	11: 99,590,889 (GRCm38)	Y144S	possibly damaging	Het
Layn	C	T	9: 51,057,382 (GRCm38)	V354M	probably damaging	Het
Lrba	G	A	3: 86,619,509 (GRCm38)		probably null	Het
Lrp8	T	A	4: 107,870,037 (GRCm38)	L893Q	possibly damaging	Het
Mrps9	T	A	1: 42,898,415 (GRCm38)		probably benign	Het
Mug1	T	A	6: 121,885,854 (GRCm38)	M1387K	probably damaging	Het
Myo18b	A	C	5: 112,874,029 (GRCm38)	V499G	probably benign	Het
Nbea	T	C	3: 55,710,670 (GRCm38)	E2321G	probably benign	Het
Nrsn2	C	T	2: 152,369,632 (GRCm38)	V160I	probably benign	Het
Nup210	G	A	6: 91,031,668 (GRCm38)	Q510*	probably null	Het
Ofcc1	G	A	13: 40,015,388 (GRCm38)	T841I	probably damaging	Het
Or2ag12	T	G	7: 106,678,123 (GRCm38)	D121A	probably damaging	Het
P3h3	G	T	6: 124,850,637 (GRCm38)	Q479K	possibly damaging	Het
Paqr9	T	A	9: 95,560,670 (GRCm38)	F238I	probably damaging	Het
Parp3	A	T	9: 106,473,109 (GRCm38)	L343H	probably damaging	Het
Pcdh18	A	C	3: 49,744,668 (GRCm38)	M1115R	probably damaging	Het
Pcdh8	A	G	14: 79,770,868 (GRCm38)	V85A	possibly damaging	Het
Pcdhb4	A	G	18: 37,308,399 (GRCm38)	N254S	possibly damaging	Het
Pld1	T	C	3: 28,076,551 (GRCm38)	V500A	probably benign	Het
Pramel29	T	C	4: 144,208,574 (GRCm38)	K199R	probably damaging	Het
Prkg2	A	T	5: 98,981,143 (GRCm38)	D311E	probably benign	Het
Prss42	T	C	9: 110,799,301 (GRCm38)	L171P	probably damaging	Het
Pth2	T	A	7: 45,181,343 (GRCm38)	L17H	probably damaging	Het
Reln	A	T	5: 22,018,846 (GRCm38)		probably null	Het
Rmi2	G	T	16: 10,839,837 (GRCm38)	V104L	probably damaging	Het
Rpusd4	T	A	9: 35,268,535 (GRCm38)	V108D	probably damaging	Het
Rufy4	C	A	1: 74,129,039 (GRCm38)	T82K	possibly damaging	Het
Scimp	G	A	11: 70,791,468 (GRCm38)	Q141*	probably null	Het
Sel1l2	T	C	2: 140,263,470 (GRCm38)	T267A	probably benign	Het
Sema5a	T	A	15: 32,550,254 (GRCm38)	S146R	possibly damaging	Het
Sh2d3c	T	C	2: 32,721,160 (GRCm38)	M1T	probably null	Het
Slc30a6	T	C	17: 74,405,721 (GRCm38)	L71P	probably damaging	Het
Srrm3	A	G	5: 135,854,595 (GRCm38)	Y224C	possibly damaging	Het
Tacr3	A	T	3: 134,854,854 (GRCm38)	T185S	possibly damaging	Het
Tas2r140	T	A	6: 133,055,565 (GRCm38)	T77S	probably benign	Het
Thsd7b	T	C	1: 129,595,844 (GRCm38)	V128A	probably benign	Het
Tnfrsf10b	T	G	14: 69,776,159 (GRCm38)	H179Q	probably damaging	Het
Tonsl	A	G	15: 76,633,209 (GRCm38)	V770A	probably benign	Het
Trim42	G	A	9: 97,362,929 (GRCm38)	P606L	probably benign	Het
Trim45	A	T	3: 100,925,488 (GRCm38)	T346S	possibly damaging	Het
Ttc28	C	A	5: 111,286,081 (GRCm38)	S2296Y	probably damaging	Het
Ttc41	C	T	10: 86,731,125 (GRCm38)	R552C	probably benign	Het
Tube1	A	G	10: 39,144,846 (GRCm38)	N243D	probably benign	Het
Tvp23b	G	T	11: 62,879,598 (GRCm38)		probably null	Het
Ubxn11	T	A	4: 134,109,608 (GRCm38)	I49N	probably damaging	Het
Usp17le	T	A	7: 104,769,770 (GRCm38)	E55V	probably benign	Het
Vmn2r114	A	T	17: 23,291,379 (GRCm38)	V709D	probably damaging	Het
Vmn2r129	G	C	4: 156,333,438 (GRCm38)		noncoding transcript	Het
Vmn2r23	C	T	6: 123,713,074 (GRCm38)	T303M	probably damaging	Het
Vmn2r60	C	T	7: 42,135,861 (GRCm38)	P166S	probably damaging	Het
Vmn2r83	A	G	10: 79,477,848 (GRCm38)	I97V	possibly damaging	Het
Wbp2nl	A	T	15: 82,314,336 (GRCm38)	K358M	possibly damaging	Het
Xpo1	T	A	11: 23,278,183 (GRCm38)	I150N	probably damaging	Het
Zfp113	G	A	5: 138,145,425 (GRCm38)	L188F	probably damaging	Het
Zfp189	T	G	4: 49,529,984 (GRCm38)	S362R	probably damaging	Het
Zfp593os	A	G	4: 134,245,276 (GRCm38)		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
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
R6433:Aspm	UTSW	1	139,473,683 (GRCm38)	missense	probably damaging	1.00
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'- ACTTGGATAGTTTCTGGGAGACC -3'
(R):5'- TGTGCCTGTCCACAACATCC -3'

Sequencing Primer
(F):5'- GGAGACCTTTTGTCCTTAATGTG -3'
(R):5'- TCCTTAGACGAGATAGCGCTC -3'

Posted On

2016-03-01