Mutagenetix > Incidental Mutation

Incidental Mutation 'R2239:Aspm'

240514

Institutional Source

Beutler Lab

Gene Symbol

Aspm

Ensembl Gene

ENSMUSG00000033952

Gene Name

abnormal spindle microtubule assembly

Synonyms

Sha1, D330028K02Rik, Calmbp1, MCPH5, Aspm

MMRRC Submission

040239-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2239 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139382510-139421829 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139384584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 127 (I127K)

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: I127K

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000059159
Gene: ENSMUSG00000033952
AA Change: I127K

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: I127K

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142880
Gene: ENSMUSG00000033952
AA Change: I127K

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

0.1362

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

94% (68/72)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	C	8: 25,136,303 (GRCm39)	E406G	probably benign	Het
Ago3	G	A	4: 126,262,315 (GRCm39)	R412C	probably damaging	Het
Arhgap36	G	T	X: 48,582,282 (GRCm39)	V60L	possibly damaging	Het
Arl10	G	T	13: 54,722,962 (GRCm39)	V19L	probably benign	Het
Atp8b3	A	G	10: 80,366,822 (GRCm39)	C259R	probably damaging	Het
Camk2g	A	G	14: 20,789,455 (GRCm39)	I205T	probably damaging	Het
Ccdc47	G	T	11: 106,092,960 (GRCm39)	N100K	possibly damaging	Het
Cd200r4	T	A	16: 44,641,260 (GRCm39)	M1K	probably null	Het
Cdc37	G	A	9: 21,053,829 (GRCm39)	Q176*	probably null	Het
Cdh5	C	A	8: 104,852,304 (GRCm39)	H140N	possibly damaging	Het
Cep128	T	C	12: 91,314,341 (GRCm39)	T146A	probably benign	Het
Cnnm4	T	A	1: 36,544,759 (GRCm39)	S673T	probably benign	Het
Cnot1	T	C	8: 96,496,149 (GRCm39)	I342V	probably benign	Het
Cog8	C	A	8: 107,782,993 (GRCm39)	G99W	probably damaging	Het
Dars2	T	C	1: 160,890,852 (GRCm39)	T120A	possibly damaging	Het
Dnah7b	C	A	1: 46,240,344 (GRCm39)		probably benign	Het
Emilin2	T	A	17: 71,617,219 (GRCm39)	Q64L	probably benign	Het
Eomes	A	G	9: 118,311,359 (GRCm39)	D394G	probably damaging	Het
Epn1	A	G	7: 5,100,601 (GRCm39)	N518S	probably damaging	Het
Exoc1	T	C	5: 76,707,557 (GRCm39)		probably benign	Het
Fam186a	C	T	15: 99,852,745 (GRCm39)	V158M	unknown	Het
Fryl	A	G	5: 73,265,890 (GRCm39)	L477P	probably damaging	Het
Gbf1	T	C	19: 46,152,057 (GRCm39)	I30T	probably benign	Het
Hsd17b1	A	T	11: 100,969,289 (GRCm39)	I8F	probably damaging	Het
Htatsf1	G	T	X: 56,111,864 (GRCm39)	D642Y	unknown	Het
Ift88	A	G	14: 57,692,961 (GRCm39)	I387V	probably damaging	Het
Kcnh5	T	A	12: 75,054,493 (GRCm39)	M484L	probably benign	Het
Kdm1b	T	A	13: 47,227,231 (GRCm39)	F574L	probably damaging	Het
Kdm6a	T	C	X: 18,065,476 (GRCm39)	F104S	probably damaging	Het
Kntc1	T	C	5: 123,941,733 (GRCm39)	V1809A	possibly damaging	Het
Lgr4	T	C	2: 109,842,738 (GRCm39)	Y908H	probably damaging	Het
Ltbp3	C	A	19: 5,801,551 (GRCm39)	C698*	probably null	Het
Map3k1	A	C	13: 111,885,478 (GRCm39)	S1480A	probably benign	Het
Map7	A	T	10: 20,154,028 (GRCm39)	N715Y	unknown	Het
Morn4	A	G	19: 42,066,471 (GRCm39)	Y39H	possibly damaging	Het
Myh14	A	T	7: 44,314,607 (GRCm39)	D105E	probably damaging	Het
Nfasc	T	C	1: 132,510,760 (GRCm39)		probably benign	Het
Nfe2l2	G	A	2: 75,506,898 (GRCm39)	P401S	probably benign	Het
Nt5c1b	C	A	12: 10,425,558 (GRCm39)	T309K	probably damaging	Het
Or10v5	T	C	19: 11,805,814 (GRCm39)	D192G	probably damaging	Het
Or2aa1	A	G	11: 59,480,097 (GRCm39)	S273P	possibly damaging	Het
Or5ac23	T	A	16: 59,149,738 (GRCm39)	I45F	probably damaging	Het
Or5b109	T	C	19: 13,212,085 (GRCm39)	V157A	probably benign	Het
Or5l13	T	C	2: 87,779,741 (GRCm39)	T279A	probably damaging	Het
P4hb	A	G	11: 120,454,108 (GRCm39)	Y329H	probably damaging	Het
Papolg	A	G	11: 23,826,378 (GRCm39)	Y259H	probably damaging	Het
Pcgf5	A	T	19: 36,414,754 (GRCm39)	N105I	probably damaging	Het
Pde4a	G	A	9: 21,122,564 (GRCm39)	C820Y	probably damaging	Het
Phka2	A	G	X: 159,324,408 (GRCm39)	E254G	probably damaging	Het
Phrf1	A	G	7: 140,817,605 (GRCm39)	E138G	probably damaging	Het
Rgs3	A	T	4: 62,544,124 (GRCm39)	T299S	probably benign	Het
Skint5	G	A	4: 113,403,733 (GRCm39)	T1163I	unknown	Het
Slc16a8	T	C	15: 79,137,147 (GRCm39)	M88V	probably damaging	Het
Slc35f4	A	G	14: 49,543,660 (GRCm39)		probably null	Het
Smr2l	T	G	5: 88,430,413 (GRCm39)	M103R	probably benign	Het
Spata4	A	C	8: 55,055,664 (GRCm39)	K185T	probably benign	Het
Spin2c	A	G	X: 152,616,672 (GRCm39)	I162V	probably damaging	Het
Stac	G	A	9: 111,519,190 (GRCm39)		probably benign	Het
Tet1	T	C	10: 62,715,513 (GRCm39)	D94G	probably benign	Het
Tnfsf11	A	T	14: 78,537,421 (GRCm39)	S81T	possibly damaging	Het
Topaz1	C	T	9: 122,600,212 (GRCm39)	T984I	probably benign	Het
Trmt5	A	G	12: 73,331,888 (GRCm39)	I4T	probably benign	Het
Ttc7b	A	G	12: 100,321,260 (GRCm39)		probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ush2a	C	A	1: 188,308,411 (GRCm39)	T2020K	probably benign	Het
Zan	G	A	5: 137,456,099 (GRCm39)	Q1354*	probably null	Het
Zpld2	A	C	4: 133,929,516 (GRCm39)	M263R	unknown	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
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
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'- GGTGTGTTAACAGTTATCAATCTGC -3'
(R):5'- CTTACTGGTATTCCAAAGACTTCTCTG -3'

Sequencing Primer
(F):5'- TCTAAGTTATGTATAGTGCATTTGGC -3'
(R):5'- GTGATATATGTCCCCCAAC -3'

Posted On

2014-10-15