Mutagenetix > Incidental Mutation

Incidental Mutation 'R2128:Aspm'

227684

Institutional Source

Beutler Lab

Gene Symbol

Aspm

Ensembl Gene

ENSMUSG00000033952

Gene Name

abnormal spindle microtubule assembly

Synonyms

Aspm, Sha1, MCPH5, D330028K02Rik, Calmbp1

MMRRC Submission

040131-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2128 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139454772-139494091 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139457635 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 339 (V339A)

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

probably benign
Transcript: ENSMUST00000053364
AA Change: V339A

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000059159
Gene: ENSMUSG00000033952
AA Change: V339A

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

probably benign
Transcript: ENSMUST00000200083
AA Change: V339A

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000142880
Gene: ENSMUSG00000033952
AA Change: V339A

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,230,204 (GRCm38)	E249G	possibly damaging	Het
2610028H24Rik	A	G	10: 76,457,515 (GRCm38)	M136V	possibly damaging	Het
4930523C07Rik	A	T	1: 160,075,375 (GRCm38)	K72*	probably null	Het
Abca6	A	G	11: 110,219,649 (GRCm38)	I558T	probably benign	Het
Acot10	T	C	15: 20,666,626 (GRCm38)	T10A	probably benign	Het
Adgrl4	T	A	3: 151,500,201 (GRCm38)	D233E	probably benign	Het
Adgrv1	A	T	13: 81,557,080 (GRCm38)	F1537Y	probably damaging	Het
Akap2	A	G	4: 57,854,890 (GRCm38)	Y134C	probably benign	Het
Aqp3	T	A	4: 41,098,061 (GRCm38)	I17F	probably benign	Het
Arap1	T	A	7: 101,409,320 (GRCm38)	L1375H	probably damaging	Het
Atp13a3	G	A	16: 30,354,276 (GRCm38)	A261V	probably damaging	Het
Casp8ap2	T	C	4: 32,640,142 (GRCm38)	Y399H	probably benign	Het
Cept1	A	G	3: 106,512,879 (GRCm38)	V213A	probably damaging	Het
Cit	A	G	5: 115,985,507 (GRCm38)	D1469G	possibly damaging	Het
Cnga2	A	G	X: 72,007,788 (GRCm38)	Y182C	possibly damaging	Het
Cox20	A	G	1: 178,321,947 (GRCm38)	I54V	probably benign	Het
Dhx8	C	A	11: 101,738,409 (GRCm38)	D261E	probably benign	Het
Dnah2	A	T	11: 69,458,185 (GRCm38)	I2486N	probably benign	Het
Dnah5	A	G	15: 28,408,321 (GRCm38)	Q3484R	probably benign	Het
Drd1	T	C	13: 54,053,553 (GRCm38)	Y207C	probably damaging	Het
Dtl	C	T	1: 191,558,110 (GRCm38)	V222I	probably damaging	Het
Dync1h1	T	C	12: 110,640,882 (GRCm38)	Y2636H	probably damaging	Het
Endog	C	A	2: 30,172,036 (GRCm38)	D154E	probably benign	Het
Epc1	A	T	18: 6,462,954 (GRCm38)	V14E	probably damaging	Het
Ercc4	C	A	16: 13,147,934 (GRCm38)	T810K	probably damaging	Het
Fam43b	T	A	4: 138,395,988 (GRCm38)	N7I	possibly damaging	Het
Fgd1	T	C	X: 151,086,217 (GRCm38)		probably null	Het
Filip1	G	T	9: 79,819,330 (GRCm38)	T669N	probably damaging	Het
Fndc1	A	G	17: 7,778,665 (GRCm38)		probably benign	Het
Foxk1	C	A	5: 142,435,188 (GRCm38)	S189*	probably null	Het
Gatm	T	C	2: 122,600,536 (GRCm38)	N274S	probably damaging	Het
Gdf9	A	G	11: 53,437,507 (GRCm38)	Y430C	probably damaging	Het
Gga1	C	T	15: 78,888,448 (GRCm38)	P260S	probably damaging	Het
Gm11595	A	T	11: 99,772,501 (GRCm38)	C118S	unknown	Het
Gm382	G	T	X: 127,062,651 (GRCm38)	V820L	possibly damaging	Het
Gzmk	T	A	13: 113,172,014 (GRCm38)	I179F	probably damaging	Het
Hsp90b1	T	C	10: 86,695,706 (GRCm38)	D421G	probably damaging	Het
Hus1	A	G	11: 9,006,011 (GRCm38)	M174T	probably damaging	Het
Ifngr2	T	A	16: 91,562,873 (GRCm38)	Y289*	probably null	Het
Il6st	T	A	13: 112,504,175 (GRCm38)	H828Q	probably benign	Het
Impg2	T	A	16: 56,218,379 (GRCm38)	Y127N	probably damaging	Het
Irf3	T	A	7: 45,001,744 (GRCm38)	W345R	probably damaging	Het
Kif1b	G	A	4: 149,187,640 (GRCm38)	S1568L	possibly damaging	Het
Klhl42	A	G	6: 147,101,753 (GRCm38)	T342A	probably benign	Het
Kndc1	G	T	7: 139,930,112 (GRCm38)	R1289L	probably damaging	Het
Knl1	A	T	2: 119,071,819 (GRCm38)	T1334S	possibly damaging	Het
L3mbtl3	G	T	10: 26,313,868 (GRCm38)	D499E	unknown	Het
Ldhd	T	A	8: 111,627,048 (GRCm38)	M478L	probably benign	Het
Loxl4	C	G	19: 42,603,963 (GRCm38)	E385D	probably damaging	Het
Lrriq1	G	A	10: 103,214,857 (GRCm38)	T678I	probably benign	Het
Macf1	T	A	4: 123,492,774 (GRCm38)	I1017F	probably benign	Het
Madcam1	A	G	10: 79,665,572 (GRCm38)	E157G	possibly damaging	Het
Mamdc4	T	C	2: 25,569,258 (GRCm38)	D195G	probably damaging	Het
Mctp1	A	G	13: 76,824,822 (GRCm38)	D648G	probably damaging	Het
Mycbp2	T	C	14: 103,201,230 (GRCm38)	M2072V	probably benign	Het
Nck1	A	G	9: 100,497,547 (GRCm38)		probably null	Het
Ndufaf4	G	T	4: 24,898,608 (GRCm38)	D55Y	probably damaging	Het
Nek11	A	T	9: 105,300,361 (GRCm38)	D230E	probably benign	Het
Nit2	T	C	16: 57,161,196 (GRCm38)	K67E	possibly damaging	Het
Or12j2	C	T	7: 140,336,429 (GRCm38)	T189M	probably damaging	Het
Or5ae1	T	C	7: 84,916,493 (GRCm38)	F238S	probably damaging	Het
Or6a2	T	C	7: 107,001,248 (GRCm38)	D204G	probably damaging	Het
Or6c1	A	T	10: 129,682,532 (GRCm38)	V69E	possibly damaging	Het
Pccb	G	C	9: 100,985,831 (GRCm38)	D347E	probably damaging	Het
Plcl1	T	A	1: 55,697,838 (GRCm38)	F779L	probably damaging	Het
Prune2	C	A	19: 17,122,422 (GRCm38)	D1763E	probably benign	Het
Pwwp2a	A	G	11: 43,705,318 (GRCm38)	S437G	probably benign	Het
Rabgap1l	A	T	1: 160,738,957 (GRCm38)	D90E	probably benign	Het
Rapgef4	T	A	2: 72,226,553 (GRCm38)	I552N	possibly damaging	Het
Scn7a	A	T	2: 66,697,986 (GRCm38)	I720K	probably damaging	Het
Scn9a	T	A	2: 66,526,654 (GRCm38)	N1101I	probably damaging	Het
Siglec1	A	T	2: 131,080,497 (GRCm38)	Y553N	probably damaging	Het
Slc22a23	A	G	13: 34,203,970 (GRCm38)	L381P	possibly damaging	Het
Slc7a11	T	A	3: 50,384,109 (GRCm38)	T284S	probably damaging	Het
Slc8a2	T	A	7: 16,140,492 (GRCm38)		probably null	Het
Snx29	T	A	16: 11,400,971 (GRCm38)	S224T	probably damaging	Het
Stimate	T	C	14: 30,866,624 (GRCm38)	Y103H	probably damaging	Het
Stox1	T	C	10: 62,664,535 (GRCm38)	T749A	probably benign	Het
Tg	A	G	15: 66,694,894 (GRCm38)	I1264V	probably benign	Het
Top2a	A	C	11: 99,009,807 (GRCm38)	V609G	probably damaging	Het
Trmt44	G	A	5: 35,574,832 (GRCm38)	P72S	probably benign	Het
Ttll3	G	C	6: 113,412,934 (GRCm38)	S760T	probably benign	Het
Ttn	G	A	2: 76,833,897 (GRCm38)		probably benign	Het
Ttn	T	C	2: 76,748,678 (GRCm38)	D23957G	probably damaging	Het
Ubxn1	T	G	19: 8,872,070 (GRCm38)	V59G	probably benign	Het
Ubxn4	T	C	1: 128,244,510 (GRCm38)	S14P	probably benign	Het
Uso1	T	A	5: 92,195,370 (GRCm38)	M771K	probably benign	Het
Utp20	A	G	10: 88,814,055 (GRCm38)	F431S	probably damaging	Het
Vmn1r206	T	C	13: 22,620,612 (GRCm38)	S142G	probably benign	Het
Vmn2r19	A	G	6: 123,308,330 (GRCm38)		probably null	Het
Vps36	G	T	8: 22,218,289 (GRCm38)		probably null	Het
Wnt3	A	G	11: 103,812,648 (GRCm38)	H319R	possibly damaging	Het
Zbtb26	G	T	2: 37,436,551 (GRCm38)	Q158K	probably benign	Het
Zfp648	T	C	1: 154,204,607 (GRCm38)	S171P	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
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
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'- ACGCTTGCCCCAAACTGTTC -3'
(R):5'- AGTCTGTGCATGCTGACAC -3'

Sequencing Primer
(F):5'- CTTCACCTTTGAATAGTACACAGAC -3'
(R):5'- ATGCTGACACTCGGGGGTATAC -3'

Posted On

2014-09-17