Mutagenetix > Incidental Mutation

Incidental Mutation 'R4767:Spata31d1a'

366240

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1a

Ensembl Gene

ENSMUSG00000050876

Gene Name

spermatogenesis associated 31 subfamily D, member 1A

Synonyms

MMRRC Submission

042408-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R4767 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59699806-59710330 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59701155 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1053 (E1053G)

Ref Sequence

ENSEMBL: ENSMUSP00000152919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066510] [ENSMUST00000224469] [ENSMUST00000224982]

AlphaFold

E9QA35

Predicted Effect

probably benign
Transcript: ENSMUST00000066510
AA Change: E1053G

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000128533
Gene: ENSMUSG00000050876
AA Change: E1053G

Domain	Start	End	E-Value	Type
transmembrane domain	31	53	N/A	INTRINSIC
Pfam:DUF4599	66	150	3.7e-25	PFAM
low complexity region	196	217	N/A	INTRINSIC
low complexity region	240	266	N/A	INTRINSIC
Pfam:FAM75	400	772	2.9e-108	PFAM
low complexity region	1144	1154	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000224469

Predicted Effect

probably benign
Transcript: ENSMUST00000224982
AA Change: E1053G

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225362

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

95% (62/65)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	C	11: 46,138,977		probably null	Het
Aig1	T	C	10: 13,801,858	N130S	probably damaging	Het
Alx1	A	T	10: 103,025,186	Y160*	probably null	Het
Ap4e1	T	C	2: 127,060,438	I755T	probably benign	Het
Apoc3	C	A	9: 46,234,535	E21*	probably null	Het
Atp9b	G	T	18: 80,753,070	H919Q	probably damaging	Het
Cemip	T	G	7: 83,973,306	Y555S	probably damaging	Het
Cic	T	C	7: 25,271,600	V252A	possibly damaging	Het
Cracr2a	A	T	6: 127,611,507	N210Y	probably damaging	Het
Crocc2	G	A	1: 93,202,856	R953Q	possibly damaging	Het
Csnk1d	A	G	11: 120,969,128	S318P	probably benign	Het
Ddx21	A	G	10: 62,591,972	L384P	probably damaging	Het
Dnah5	C	T	15: 28,270,474	T974I	probably benign	Het
Duox1	A	G	2: 122,333,441	Y863C	possibly damaging	Het
Epg5	C	A	18: 78,023,283	P2133T	possibly damaging	Het
Ephb6	A	T	6: 41,614,185	Q92L	possibly damaging	Het
Ercc4	C	A	16: 13,122,095	A73D	probably damaging	Het
Eva1c	A	T	16: 90,904,347	Y290F	probably damaging	Het
Galnt5	T	A	2: 58,028,144	V798E	possibly damaging	Het
Haus4	T	C	14: 54,548,885	E149G	probably damaging	Het
Ighv1-13	A	G	12: 114,630,936	Y86C	unknown	Het
Igkv9-120	G	T	6: 68,050,367	R88S	possibly damaging	Het
Lama3	T	C	18: 12,500,563	V1584A	probably benign	Het
Lamb1	A	G	12: 31,308,011	E1119G	probably damaging	Het
Lao1	T	C	4: 118,967,988	L335P	probably damaging	Het
Mindy4	A	G	6: 55,260,565	D375G	probably damaging	Het
Myo5a	T	C	9: 75,144,076	I317T	probably damaging	Het
Nhlrc2	G	A	19: 56,570,466	V128I	probably benign	Het
Nlrp2	C	T	7: 5,328,024	D458N	probably damaging	Het
Olfr107	T	A	17: 37,406,200	C217*	probably null	Het
Olfr1497	A	T	19: 13,795,045	C189S	probably damaging	Het
Olfr347	A	T	2: 36,734,323	M1L	probably benign	Het
Olfr76	G	T	19: 12,119,936	H247N	probably damaging	Het
Olfr938	T	C	9: 39,078,692	T18A	possibly damaging	Het
Parp8	T	C	13: 116,868,536	H663R	probably damaging	Het
Pax6	T	C	2: 105,695,360	S377P	probably benign	Het
Pi15	A	G	1: 17,602,766	D63G	probably benign	Het
Plaa	A	G	4: 94,586,258		probably benign	Het
Rbm5	C	A	9: 107,745,213	W546C	probably damaging	Het
Rnf123	C	A	9: 108,052,089	C1257F	probably damaging	Het
Rnf185	A	G	11: 3,432,551	S45P	possibly damaging	Het
Sh3bp1	T	C	15: 78,904,497	S241P	possibly damaging	Het
Slfn8	G	A	11: 83,003,197	A872V	possibly damaging	Het
Smoc1	G	A	12: 81,104,773		probably null	Het
Sox14	A	T	9: 99,875,633	W18R	probably damaging	Het
Syne1	T	A	10: 5,344,866	K1246*	probably null	Het
Tbrg4	A	C	11: 6,620,909	S188A	probably benign	Het
Thnsl2	A	T	6: 71,134,295	D196E	probably damaging	Het
Tmem266	C	T	9: 55,380,741	T34I	probably damaging	Het
Tmem59l	C	A	8: 70,486,098	R111L	probably benign	Het
Tpr	T	C	1: 150,430,529		probably benign	Het
Trpc6	T	C	9: 8,643,686	S491P	probably damaging	Het
Tspan10	A	T	11: 120,446,166	N254I	probably damaging	Het
Ubox5	A	T	2: 130,591,894	L511Q	probably damaging	Het
Vmn1r183	TATCCATC	TATC	7: 24,055,106		probably null	Het
Vmn2r4	C	T	3: 64,390,976	C577Y	probably damaging	Het
Vmn2r86	A	T	10: 130,455,737	M53K	probably benign	Het
Zfp948	T	A	17: 21,588,307	I587N	possibly damaging	Het

Other mutations in Spata31d1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00915:Spata31d1a	APN	13	59702185	missense	probably benign	0.27
IGL01397:Spata31d1a	APN	13	59701738	missense	probably damaging	0.99
IGL01448:Spata31d1a	APN	13	59701559	missense	probably benign	0.06
IGL02715:Spata31d1a	APN	13	59703735	missense	probably benign	0.44
IGL02983:Spata31d1a	APN	13	59703694	missense	possibly damaging	0.65
IGL03224:Spata31d1a	APN	13	59701026	missense	possibly damaging	0.85
PIT1430001:Spata31d1a	UTSW	13	59701196	missense	probably benign
R0302:Spata31d1a	UTSW	13	59703150	missense	probably benign
R0387:Spata31d1a	UTSW	13	59703501	missense	probably damaging	0.99
R0464:Spata31d1a	UTSW	13	59701759	missense	possibly damaging	0.85
R0606:Spata31d1a	UTSW	13	59702431	missense	probably benign	0.03
R0617:Spata31d1a	UTSW	13	59702259	missense	possibly damaging	0.53
R0691:Spata31d1a	UTSW	13	59700385	missense	possibly damaging	0.93
R0746:Spata31d1a	UTSW	13	59702263	missense	possibly damaging	0.95
R1019:Spata31d1a	UTSW	13	59702368	missense	probably benign
R1397:Spata31d1a	UTSW	13	59705039	splice site	probably benign
R1543:Spata31d1a	UTSW	13	59702242	missense	probably benign
R1619:Spata31d1a	UTSW	13	59702433	nonsense	probably null
R1799:Spata31d1a	UTSW	13	59703402	missense	probably benign
R1820:Spata31d1a	UTSW	13	59701255	missense	possibly damaging	0.86
R1885:Spata31d1a	UTSW	13	59702007	missense	probably damaging	0.99
R1909:Spata31d1a	UTSW	13	59702695	missense	probably damaging	0.99
R2012:Spata31d1a	UTSW	13	59702556	missense	possibly damaging	0.93
R2099:Spata31d1a	UTSW	13	59706071	missense	probably damaging	0.97
R2132:Spata31d1a	UTSW	13	59701043	missense	probably damaging	0.96
R2224:Spata31d1a	UTSW	13	59703715	missense	probably benign
R2225:Spata31d1a	UTSW	13	59703715	missense	probably benign
R2226:Spata31d1a	UTSW	13	59703715	missense	probably benign
R2358:Spata31d1a	UTSW	13	59703888	missense	probably benign	0.00
R2495:Spata31d1a	UTSW	13	59701993	missense	possibly damaging	0.93
R3081:Spata31d1a	UTSW	13	59703093	missense	probably benign	0.15
R3151:Spata31d1a	UTSW	13	59701366	missense	probably benign	0.06
R3971:Spata31d1a	UTSW	13	59702157	missense	possibly damaging	0.85
R4156:Spata31d1a	UTSW	13	59705047	missense	possibly damaging	0.92
R4760:Spata31d1a	UTSW	13	59701645	missense	probably damaging	1.00
R4877:Spata31d1a	UTSW	13	59702523	missense	probably damaging	0.99
R4894:Spata31d1a	UTSW	13	59701728	missense	probably damaging	0.98
R4961:Spata31d1a	UTSW	13	59701902	missense	possibly damaging	0.86
R4990:Spata31d1a	UTSW	13	59703151	missense	probably benign	0.00
R4991:Spata31d1a	UTSW	13	59703151	missense	probably benign	0.00
R4992:Spata31d1a	UTSW	13	59703151	missense	probably benign	0.00
R5088:Spata31d1a	UTSW	13	59701152	splice site	probably null
R5094:Spata31d1a	UTSW	13	59705044	critical splice donor site	probably null
R5330:Spata31d1a	UTSW	13	59700403	missense	possibly damaging	0.86
R5587:Spata31d1a	UTSW	13	59702618	missense	probably damaging	0.96
R5832:Spata31d1a	UTSW	13	59701566	missense	probably damaging	0.98
R6073:Spata31d1a	UTSW	13	59702994	missense	probably damaging	0.98
R6208:Spata31d1a	UTSW	13	59700564	missense	probably damaging	0.98
R6224:Spata31d1a	UTSW	13	59706320	start gained	probably benign
R6250:Spata31d1a	UTSW	13	59701801	missense	possibly damaging	0.93
R6359:Spata31d1a	UTSW	13	59703106	missense	probably benign
R6806:Spata31d1a	UTSW	13	59703218	missense	probably benign
R6848:Spata31d1a	UTSW	13	59701963	missense	possibly damaging	0.91
R6851:Spata31d1a	UTSW	13	59703911	missense	unknown
R6985:Spata31d1a	UTSW	13	59703093	missense	probably benign	0.15
R7007:Spata31d1a	UTSW	13	59703634	missense	probably benign
R7037:Spata31d1a	UTSW	13	59700324	missense	possibly damaging	0.96
R7124:Spata31d1a	UTSW	13	59702487	missense	probably damaging	0.99
R7271:Spata31d1a	UTSW	13	59702099	missense	probably benign	0.00
R7346:Spata31d1a	UTSW	13	59703201	missense	probably benign
R7556:Spata31d1a	UTSW	13	59701984	missense	probably benign	0.00
R7581:Spata31d1a	UTSW	13	59704139	critical splice donor site	probably null
R7891:Spata31d1a	UTSW	13	59700325	missense	possibly damaging	0.96
R7995:Spata31d1a	UTSW	13	59701110	missense	probably benign	0.06
R8379:Spata31d1a	UTSW	13	59702854	missense	probably benign	0.00
R8497:Spata31d1a	UTSW	13	59701174	missense	possibly damaging	0.91
R8837:Spata31d1a	UTSW	13	59702782	missense	possibly damaging	0.92
R9108:Spata31d1a	UTSW	13	59703168	missense	probably benign	0.00
Z1177:Spata31d1a	UTSW	13	59703085	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGACAGTCCTTGTTCTTGCTC -3'
(R):5'- GCTACACAAGGGAGAGCAACTC -3'

Sequencing Primer
(F):5'- CTCTTGCCTGAGACATATGCAGG -3'
(R):5'- AGAGCAACTCCCGGGTCTTC -3'

Posted On

2015-12-21