Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02983:Spata31d1a'

406629

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spata31d1a

Ensembl Gene

ENSMUSG00000050876

Gene Name

spermatogenesis associated 31 subfamily D, member 1A

Synonyms

1700013B16Rik, Fam75d3, Fam75d1a

Accession Numbers

Essential gene?

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

Stock #

IGL02983

Quality Score

Status

Chromosome

Chromosomal Location

59847897-59854401 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59851508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 207 (S207P)

Ref Sequence

ENSEMBL: ENSMUSP00000152919 (fasta)

Gene Model

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

AlphaFold

E9QA35

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066510
AA Change: S207P

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128533
Gene: ENSMUSG00000050876
AA Change: S207P

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

possibly damaging
Transcript: ENSMUST00000224982
AA Change: S207P

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225362

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,240,663 (GRCm39)	N842S	probably benign	Het
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Brip1	T	C	11: 86,029,950 (GRCm39)	I565V	probably benign	Het
Camta2	C	T	11: 70,562,848 (GRCm39)	R959Q	probably damaging	Het
Cbln2	A	G	18: 86,731,504 (GRCm39)	E104G	probably benign	Het
Cdc42ep4	T	C	11: 113,619,995 (GRCm39)	K132R	probably benign	Het
Clcnka	T	A	4: 141,117,442 (GRCm39)	I452F	probably damaging	Het
Clec4a3	T	A	6: 122,944,526 (GRCm39)		probably null	Het
Crat	A	C	2: 30,294,538 (GRCm39)		probably null	Het
Cspp1	A	G	1: 10,197,750 (GRCm39)	K227R	probably benign	Het
Ddx1	A	T	12: 13,273,863 (GRCm39)	I588N	probably damaging	Het
Dip2b	G	T	15: 100,029,903 (GRCm39)	R98L	possibly damaging	Het
Dock5	G	A	14: 68,002,119 (GRCm39)	P1617L	probably damaging	Het
Fa2h	C	T	8: 112,073,154 (GRCm39)		probably null	Het
Fezf1	T	A	6: 23,247,871 (GRCm39)	N68I	probably damaging	Het
Gabrb2	A	T	11: 42,312,227 (GRCm39)	L17F	probably benign	Het
Gm17078	T	C	14: 51,848,647 (GRCm39)	K30R	probably benign	Het
Gramd4	G	A	15: 86,011,219 (GRCm39)	V249M	probably damaging	Het
Kcnd2	A	C	6: 21,216,554 (GRCm39)	D86A	probably damaging	Het
Lrp1	T	C	10: 127,386,068 (GRCm39)	E3486G	probably damaging	Het
Ltb	A	G	17: 35,413,646 (GRCm39)	D50G	probably benign	Het
Med18	A	T	4: 132,186,997 (GRCm39)	Y167*	probably null	Het
Nat14	G	A	7: 4,927,127 (GRCm39)	A100T	probably damaging	Het
Nscme3l	A	G	19: 5,553,209 (GRCm39)	F191L	possibly damaging	Het
Nxph2	T	C	2: 23,290,374 (GRCm39)	V242A	probably damaging	Het
Or1j10	T	A	2: 36,267,649 (GRCm39)	I287N	probably damaging	Het
Or1x2	T	C	11: 50,918,207 (GRCm39)	V126A	probably damaging	Het
Or2a55-ps1	T	C	6: 43,071,582 (GRCm39)		noncoding transcript	Het
Or6c219	T	A	10: 129,781,058 (GRCm39)	N291I	probably damaging	Het
Pramel15	T	C	4: 144,099,697 (GRCm39)	E356G	probably benign	Het
Rad21l	A	G	2: 151,497,040 (GRCm39)	L358S	probably damaging	Het
Rasgef1c	A	G	11: 49,847,876 (GRCm39)	T4A	possibly damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Szt2	T	C	4: 118,222,976 (GRCm39)		probably benign	Het
Taf6	T	C	5: 138,177,142 (GRCm39)	T642A	probably benign	Het
Tmem30a	A	T	9: 79,678,725 (GRCm39)	M277K	possibly damaging	Het
Vmn1r86	T	C	7: 12,836,741 (GRCm39)	D45G	probably damaging	Het
Xkr5	T	C	8: 18,983,848 (GRCm39)	I565V	probably benign	Het
Zfp526	C	T	7: 24,923,840 (GRCm39)	A33V	probably benign	Het

Other mutations in Spata31d1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00915:Spata31d1a	APN	13	59,849,999 (GRCm39)	missense	probably benign	0.27
IGL01397:Spata31d1a	APN	13	59,849,552 (GRCm39)	missense	probably damaging	0.99
IGL01448:Spata31d1a	APN	13	59,849,373 (GRCm39)	missense	probably benign	0.06
IGL02715:Spata31d1a	APN	13	59,851,549 (GRCm39)	missense	probably benign	0.44
IGL03224:Spata31d1a	APN	13	59,848,840 (GRCm39)	missense	possibly damaging	0.85
PIT1430001:Spata31d1a	UTSW	13	59,849,010 (GRCm39)	missense	probably benign
R0302:Spata31d1a	UTSW	13	59,850,964 (GRCm39)	missense	probably benign
R0387:Spata31d1a	UTSW	13	59,851,315 (GRCm39)	missense	probably damaging	0.99
R0464:Spata31d1a	UTSW	13	59,849,573 (GRCm39)	missense	possibly damaging	0.85
R0606:Spata31d1a	UTSW	13	59,850,245 (GRCm39)	missense	probably benign	0.03
R0617:Spata31d1a	UTSW	13	59,850,073 (GRCm39)	missense	possibly damaging	0.53
R0691:Spata31d1a	UTSW	13	59,848,199 (GRCm39)	missense	possibly damaging	0.93
R0746:Spata31d1a	UTSW	13	59,850,077 (GRCm39)	missense	possibly damaging	0.95
R1019:Spata31d1a	UTSW	13	59,850,182 (GRCm39)	missense	probably benign
R1397:Spata31d1a	UTSW	13	59,852,853 (GRCm39)	splice site	probably benign
R1543:Spata31d1a	UTSW	13	59,850,056 (GRCm39)	missense	probably benign
R1619:Spata31d1a	UTSW	13	59,850,247 (GRCm39)	nonsense	probably null
R1799:Spata31d1a	UTSW	13	59,851,216 (GRCm39)	missense	probably benign
R1820:Spata31d1a	UTSW	13	59,849,069 (GRCm39)	missense	possibly damaging	0.86
R1885:Spata31d1a	UTSW	13	59,849,821 (GRCm39)	missense	probably damaging	0.99
R1909:Spata31d1a	UTSW	13	59,850,509 (GRCm39)	missense	probably damaging	0.99
R2012:Spata31d1a	UTSW	13	59,850,370 (GRCm39)	missense	possibly damaging	0.93
R2099:Spata31d1a	UTSW	13	59,853,885 (GRCm39)	missense	probably damaging	0.97
R2132:Spata31d1a	UTSW	13	59,848,857 (GRCm39)	missense	probably damaging	0.96
R2224:Spata31d1a	UTSW	13	59,851,529 (GRCm39)	missense	probably benign
R2225:Spata31d1a	UTSW	13	59,851,529 (GRCm39)	missense	probably benign
R2226:Spata31d1a	UTSW	13	59,851,529 (GRCm39)	missense	probably benign
R2358:Spata31d1a	UTSW	13	59,851,702 (GRCm39)	missense	probably benign	0.00
R2495:Spata31d1a	UTSW	13	59,849,807 (GRCm39)	missense	possibly damaging	0.93
R3081:Spata31d1a	UTSW	13	59,850,907 (GRCm39)	missense	probably benign	0.15
R3151:Spata31d1a	UTSW	13	59,849,180 (GRCm39)	missense	probably benign	0.06
R3971:Spata31d1a	UTSW	13	59,849,971 (GRCm39)	missense	possibly damaging	0.85
R4156:Spata31d1a	UTSW	13	59,852,861 (GRCm39)	missense	possibly damaging	0.92
R4760:Spata31d1a	UTSW	13	59,849,459 (GRCm39)	missense	probably damaging	1.00
R4767:Spata31d1a	UTSW	13	59,848,969 (GRCm39)	missense	probably benign	0.03
R4877:Spata31d1a	UTSW	13	59,850,337 (GRCm39)	missense	probably damaging	0.99
R4894:Spata31d1a	UTSW	13	59,849,542 (GRCm39)	missense	probably damaging	0.98
R4961:Spata31d1a	UTSW	13	59,849,716 (GRCm39)	missense	possibly damaging	0.86
R4990:Spata31d1a	UTSW	13	59,850,965 (GRCm39)	missense	probably benign	0.00
R4991:Spata31d1a	UTSW	13	59,850,965 (GRCm39)	missense	probably benign	0.00
R4992:Spata31d1a	UTSW	13	59,850,965 (GRCm39)	missense	probably benign	0.00
R5088:Spata31d1a	UTSW	13	59,848,966 (GRCm39)	splice site	probably null
R5094:Spata31d1a	UTSW	13	59,852,858 (GRCm39)	critical splice donor site	probably null
R5330:Spata31d1a	UTSW	13	59,848,217 (GRCm39)	missense	possibly damaging	0.86
R5587:Spata31d1a	UTSW	13	59,850,432 (GRCm39)	missense	probably damaging	0.96
R5832:Spata31d1a	UTSW	13	59,849,380 (GRCm39)	missense	probably damaging	0.98
R6073:Spata31d1a	UTSW	13	59,850,808 (GRCm39)	missense	probably damaging	0.98
R6208:Spata31d1a	UTSW	13	59,848,378 (GRCm39)	missense	probably damaging	0.98
R6224:Spata31d1a	UTSW	13	59,854,134 (GRCm39)	start gained	probably benign
R6250:Spata31d1a	UTSW	13	59,849,615 (GRCm39)	missense	possibly damaging	0.93
R6359:Spata31d1a	UTSW	13	59,850,920 (GRCm39)	missense	probably benign
R6806:Spata31d1a	UTSW	13	59,851,032 (GRCm39)	missense	probably benign
R6848:Spata31d1a	UTSW	13	59,849,777 (GRCm39)	missense	possibly damaging	0.91
R6851:Spata31d1a	UTSW	13	59,851,725 (GRCm39)	missense	unknown
R6985:Spata31d1a	UTSW	13	59,850,907 (GRCm39)	missense	probably benign	0.15
R7007:Spata31d1a	UTSW	13	59,851,448 (GRCm39)	missense	probably benign
R7037:Spata31d1a	UTSW	13	59,848,138 (GRCm39)	missense	possibly damaging	0.96
R7124:Spata31d1a	UTSW	13	59,850,301 (GRCm39)	missense	probably damaging	0.99
R7271:Spata31d1a	UTSW	13	59,849,913 (GRCm39)	missense	probably benign	0.00
R7346:Spata31d1a	UTSW	13	59,851,015 (GRCm39)	missense	probably benign
R7556:Spata31d1a	UTSW	13	59,849,798 (GRCm39)	missense	probably benign	0.00
R7581:Spata31d1a	UTSW	13	59,851,953 (GRCm39)	critical splice donor site	probably null
R7891:Spata31d1a	UTSW	13	59,848,139 (GRCm39)	missense	possibly damaging	0.96
R7995:Spata31d1a	UTSW	13	59,848,924 (GRCm39)	missense	probably benign	0.06
R8379:Spata31d1a	UTSW	13	59,850,668 (GRCm39)	missense	probably benign	0.00
R8497:Spata31d1a	UTSW	13	59,848,988 (GRCm39)	missense	possibly damaging	0.91
R8837:Spata31d1a	UTSW	13	59,850,596 (GRCm39)	missense	possibly damaging	0.92
R9108:Spata31d1a	UTSW	13	59,850,982 (GRCm39)	missense	probably benign	0.00
Z1177:Spata31d1a	UTSW	13	59,850,899 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02