Mutagenetix > Incidental Mutation

Incidental Mutation 'R0626:Aspm'

57453

Institutional Source

Beutler Lab

Gene Symbol

Aspm

Ensembl Gene

ENSMUSG00000033952

Gene Name

abnormal spindle microtubule assembly

Synonyms

Sha1, D330028K02Rik, Calmbp1, MCPH5, Aspm

MMRRC Submission

038815-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139382510-139421829 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 139419339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 3001 (K3001N)

Ref Sequence

ENSEMBL: ENSMUSP00000059159 (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: K3001N

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

SMART Domains

Protein: ENSMUSP00000059159
Gene: ENSMUSG00000033952
AA Change: K3001N

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: ENSMUST00000196272

Predicted Effect

probably damaging
Transcript: ENSMUST00000200083
AA Change: K1736N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142880
Gene: ENSMUSG00000033952
AA Change: K1736N

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: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,679,547 (GRCm39)		probably benign	Het
6430571L13Rik	T	A	9: 107,219,707 (GRCm39)	D53E	possibly damaging	Het
A2ml1	T	A	6: 128,527,736 (GRCm39)	N1018I	probably damaging	Het
Abi3	C	A	11: 95,727,937 (GRCm39)	A85S	probably benign	Het
Acsl5	A	T	19: 55,272,904 (GRCm39)	M340L	probably benign	Het
Adam29	T	A	8: 56,324,612 (GRCm39)	H614L	probably benign	Het
Adgrg6	A	T	10: 14,312,628 (GRCm39)	S720T	probably damaging	Het
Adrb2	G	T	18: 62,312,441 (GRCm39)	A128E	probably damaging	Het
Afap1l1	T	C	18: 61,872,291 (GRCm39)	E510G	probably benign	Het
Angel1	A	G	12: 86,764,487 (GRCm39)		probably null	Het
Aox3	T	G	1: 58,211,458 (GRCm39)	I1005S	possibly damaging	Het
Apc	C	A	18: 34,451,507 (GRCm39)	P2767Q	probably damaging	Het
Apob	T	G	12: 8,066,193 (GRCm39)	D4387E	probably benign	Het
Apobr	T	C	7: 126,185,827 (GRCm39)	V446A	possibly damaging	Het
Arhgap28	A	T	17: 68,203,108 (GRCm39)		probably null	Het
Asxl3	G	T	18: 22,655,937 (GRCm39)	V1316F	probably benign	Het
Atp2a1	T	A	7: 126,046,162 (GRCm39)		probably null	Het
Bach1	A	G	16: 87,526,359 (GRCm39)	D607G	possibly damaging	Het
Batf3	A	G	1: 190,832,935 (GRCm39)	D27G	probably damaging	Het
Baz1a	G	T	12: 55,022,055 (GRCm39)	Q76K	probably damaging	Het
Bdnf	G	A	2: 109,553,883 (GRCm39)	V86M	probably benign	Het
Birc7	A	G	2: 180,573,098 (GRCm39)	I172V	probably benign	Het
Bod1l	A	C	5: 41,988,880 (GRCm39)	V409G	probably damaging	Het
Cacna1e	T	A	1: 154,364,563 (GRCm39)	E337V	probably damaging	Het
Cacna1h	A	G	17: 25,612,520 (GRCm39)	F287L	possibly damaging	Het
Ces1e	A	G	8: 93,950,671 (GRCm39)	Y37H	probably benign	Het
Clasrp	A	T	7: 19,318,418 (GRCm39)		probably benign	Het
Clec2d	T	A	6: 129,160,090 (GRCm39)	S35T	probably damaging	Het
Cntn4	T	A	6: 106,639,539 (GRCm39)	D556E	probably benign	Het
Cntnap5c	A	T	17: 58,349,422 (GRCm39)	D245V	probably benign	Het
Col5a1	T	A	2: 27,818,255 (GRCm39)	L160*	probably null	Het
Col6a6	T	C	9: 105,654,943 (GRCm39)	E926G	probably benign	Het
Cpsf2	T	A	12: 101,951,490 (GRCm39)	H142Q	probably benign	Het
Cr2	A	C	1: 194,853,419 (GRCm39)	S20A	possibly damaging	Het
Ct45a	G	A	X: 55,590,399 (GRCm39)	P134L	probably benign	Het
Cyp2j5	A	T	4: 96,547,749 (GRCm39)	H164Q	probably benign	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Dmbt1	G	A	7: 130,703,811 (GRCm39)	V1124M	probably damaging	Het
Dmxl2	T	C	9: 54,323,838 (GRCm39)	H1182R	probably damaging	Het
Dnah2	A	T	11: 69,368,509 (GRCm39)	S1709T	probably benign	Het
Dop1b	T	C	16: 93,560,844 (GRCm39)	V776A	probably damaging	Het
Emc3	T	C	6: 113,492,992 (GRCm39)	T220A	probably benign	Het
Entpd1	A	C	19: 40,715,769 (GRCm39)	N312T	probably benign	Het
Fam8a1	A	T	13: 46,824,699 (GRCm39)	I229F	probably damaging	Het
Fancc	G	A	13: 63,465,205 (GRCm39)	P501S	probably damaging	Het
Fasn	T	C	11: 120,702,751 (GRCm39)	R1704G	probably damaging	Het
Fsip2	A	G	2: 82,819,302 (GRCm39)	I5012V	probably benign	Het
Glce	T	C	9: 61,968,282 (GRCm39)	T290A	probably benign	Het
Gns	G	A	10: 121,219,349 (GRCm39)		probably null	Het
Gsdma2	A	G	11: 98,542,810 (GRCm39)	N190S	probably damaging	Het
Hectd4	T	A	5: 121,415,887 (GRCm39)	S563T	probably benign	Het
Hmcn1	T	C	1: 150,674,470 (GRCm39)		probably null	Het
Jup	A	T	11: 100,267,589 (GRCm39)	M578K	probably benign	Het
Kir3dl1	G	A	X: 135,434,594 (GRCm39)		probably null	Het
Krt75	A	G	15: 101,482,025 (GRCm39)	F81S	probably benign	Het
Lrp1	G	T	10: 127,403,233 (GRCm39)	D2113E	probably damaging	Het
Maged2	T	A	X: 149,594,830 (GRCm39)	N176Y	probably damaging	Het
Mrc1	T	A	2: 14,333,382 (GRCm39)	C1354*	probably null	Het
Mup7	A	C	4: 60,069,742 (GRCm39)	V74G	possibly damaging	Het
Naca	A	G	10: 127,877,031 (GRCm39)		probably benign	Het
Nav3	T	G	10: 109,659,325 (GRCm39)	Y764S	probably damaging	Het
Nkpd1	A	T	7: 19,257,099 (GRCm39)	T293S	probably benign	Het
Numb	A	G	12: 83,842,614 (GRCm39)	Y510H	probably damaging	Het
Nynrin	T	G	14: 56,105,492 (GRCm39)	L834R	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or2ak5	G	T	11: 58,611,347 (GRCm39)	H176N	probably benign	Het
Or8g18	T	A	9: 39,149,162 (GRCm39)	N186I	possibly damaging	Het
Otog	T	C	7: 45,920,797 (GRCm39)	V1000A	possibly damaging	Het
Pafah1b3	A	G	7: 24,996,554 (GRCm39)	V43A	possibly damaging	Het
Pcnx1	A	G	12: 82,030,450 (GRCm39)	Y1775C	possibly damaging	Het
Phka1	G	A	X: 101,564,437 (GRCm39)	R1074C	probably damaging	Het
Pi4ka	T	A	16: 17,111,765 (GRCm39)	Y1570F	probably benign	Het
Piezo2	T	C	18: 63,152,329 (GRCm39)	K2588E	probably damaging	Het
Pkd1	A	G	17: 24,794,549 (GRCm39)	T2079A	probably damaging	Het
Plekhd1	G	T	12: 80,764,075 (GRCm39)	Q212H	probably damaging	Het
Plekhh1	C	T	12: 79,087,359 (GRCm39)	R16*	probably null	Het
Polm	C	A	11: 5,786,207 (GRCm39)	R120L	probably damaging	Het
Ptpn22	T	C	3: 103,767,721 (GRCm39)	M1T	probably null	Het
Ptprh	G	A	7: 4,567,271 (GRCm39)	L534F	probably benign	Het
Rabl6	C	T	2: 25,482,778 (GRCm39)		probably null	Het
Rap2a	A	G	14: 120,716,403 (GRCm39)	S89G	probably damaging	Het
Rara	A	T	11: 98,862,406 (GRCm39)		probably null	Het
Reck	A	G	4: 43,930,295 (GRCm39)	D623G	probably benign	Het
Relt	A	T	7: 100,498,023 (GRCm39)	L237Q	probably damaging	Het
Rngtt	A	G	4: 33,329,598 (GRCm39)		probably null	Het
Rtn4rl2	T	G	2: 84,710,763 (GRCm39)	Y167S	probably damaging	Het
Sec24c	C	T	14: 20,738,505 (GRCm39)	R353C	probably damaging	Het
Slc35g2	T	C	9: 100,435,495 (GRCm39)	S59G	probably benign	Het
Smarcd2	A	T	11: 106,158,241 (GRCm39)	M107K	probably benign	Het
Smg1	T	C	7: 117,781,606 (GRCm39)	N1227S	possibly damaging	Het
Snrnp200	A	G	2: 127,063,734 (GRCm39)	N638D	possibly damaging	Het
Sntb1	A	G	15: 55,506,179 (GRCm39)	S465P	probably benign	Het
Sp4	A	G	12: 118,263,314 (GRCm39)	L244P	probably damaging	Het
Sulf1	A	G	1: 12,887,716 (GRCm39)		probably null	Het
Tbc1d17	T	C	7: 44,492,509 (GRCm39)	T385A	probably benign	Het
Tbx10	C	A	19: 4,047,873 (GRCm39)	D206E	probably benign	Het
Tcea2	C	T	2: 181,329,431 (GRCm39)	P275S	probably damaging	Het
Tns3	C	A	11: 8,443,121 (GRCm39)	R414L	probably benign	Het
Trip11	T	C	12: 101,852,235 (GRCm39)	R610G	possibly damaging	Het
Ugt2b1	T	C	5: 87,073,720 (GRCm39)	K213R	probably null	Het
Unc80	A	G	1: 66,647,601 (GRCm39)	S1514G	probably benign	Het
Usp7	G	T	16: 8,511,778 (GRCm39)	Q867K	possibly damaging	Het
Vim	T	C	2: 13,579,463 (GRCm39)	V74A	probably benign	Het
Vmn1r234	A	G	17: 21,450,007 (GRCm39)	Y307C	probably benign	Het
Vmn2r74	A	T	7: 85,610,517 (GRCm39)	Y58*	probably null	Het
Wdr36	C	A	18: 32,983,584 (GRCm39)	A445E	probably damaging	Het
Xpo5	T	A	17: 46,532,359 (GRCm39)	W465R	probably damaging	Het
Zscan4d	T	A	7: 10,898,946 (GRCm39)	R110S	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
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
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'- TTACTTGCTGCACACGCTCCAG -3'
(R):5'- AGGACAGTTACACAGACCCGGTTAC -3'

Sequencing Primer
(F):5'- TCCAGAGGCGTAGCTTTCAC -3'
(R):5'- gtgagccatttttccagcc -3'

Posted On

2013-07-11