Mutagenetix > Incidental Mutation

Incidental Mutation 'R8776-TAIL:Spata31d1b'

668080

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1b

Ensembl Gene

ENSMUSG00000091311

Gene Name

spermatogenesis associated 31 subfamily D, member 1B

Synonyms

Gm4934, Fam75d1b

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R8776-TAIL

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59860098-59867103 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59863283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 144 (C144R)

Ref Sequence

ENSEMBL: ENSMUSP00000130813 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165133]

AlphaFold

E9QA57

Predicted Effect

probably benign
Transcript: ENSMUST00000165133
AA Change: C144R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000130813
Gene: ENSMUSG00000091311
AA Change: C144R

Domain	Start	End	E-Value	Type
transmembrane domain	31	53	N/A	INTRINSIC
Pfam:DUF4599	65	149	3.9e-10	PFAM
low complexity region	170	188	N/A	INTRINSIC
low complexity region	206	229	N/A	INTRINSIC
low complexity region	352	360	N/A	INTRINSIC
Pfam:FAM75	402	774	1.1e-116	PFAM
low complexity region	883	895	N/A	INTRINSIC
low complexity region	983	1001	N/A	INTRINSIC
low complexity region	1152	1162	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	A	G	2: 35,245,002 (GRCm39)	Y117H	probably benign	Het
a	A	G	2: 154,892,612 (GRCm39)	D97G	probably damaging	Het
Cdca7l	T	C	12: 117,836,098 (GRCm39)	S190P	probably damaging	Het
Chst9	T	A	18: 15,586,086 (GRCm39)	Y159F	possibly damaging	Het
Col26a1	G	A	5: 136,911,708 (GRCm39)	R52C	probably damaging	Het
Dchs2	A	T	3: 83,263,701 (GRCm39)	D3323V	possibly damaging	Het
Dqx1	T	A	6: 83,035,619 (GRCm39)	I44N	probably damaging	Het
Edc4	A	G	8: 106,613,992 (GRCm39)	D415G	probably damaging	Het
Enpp3	T	A	10: 24,650,733 (GRCm39)	D801V	probably damaging	Het
Fam13b	G	A	18: 34,584,446 (GRCm39)	R573C	probably damaging	Het
Fgfr2	A	T	7: 129,798,002 (GRCm39)	I415N	possibly damaging	Het
Gm32742	T	A	9: 51,067,230 (GRCm39)	M366L	probably benign	Het
Gm49336	A	T	14: 60,457,515 (GRCm39)	S563T	possibly damaging	Het
Gm5475	T	C	15: 100,324,892 (GRCm39)	F107L	unknown	Het
Lamp3	T	C	16: 19,474,252 (GRCm39)	D374G	probably damaging	Het
Lin9	T	C	1: 180,496,450 (GRCm39)		probably null	Het
Mef2d	T	C	3: 88,074,956 (GRCm39)	S381P	probably benign	Het
Mfsd9	A	G	1: 40,812,915 (GRCm39)	*467Q	probably null	Het
Mpo	A	G	11: 87,693,538 (GRCm39)	I639V	possibly damaging	Het
Mrgprh	T	C	17: 13,096,375 (GRCm39)	I205T	probably benign	Het
Ncapd2	T	C	6: 125,154,476 (GRCm39)	D580G	probably benign	Het
Nkain4	T	A	2: 180,585,920 (GRCm39)	I48F	probably damaging	Het
Notch4	C	A	17: 34,806,579 (GRCm39)	R1839S	probably damaging	Het
Nr6a1	A	G	2: 38,650,244 (GRCm39)	Y129H	probably damaging	Het
Or7g19	T	A	9: 18,856,286 (GRCm39)	I114N	possibly damaging	Het
Robo1	G	T	16: 72,821,141 (GRCm39)	E1294*	probably null	Het
Septin8	A	G	11: 53,428,343 (GRCm39)	K331R	probably benign	Het
Shmt2	A	G	10: 127,356,785 (GRCm39)		probably null	Het
Skint6	A	C	4: 112,661,885 (GRCm39)	L1233R	possibly damaging	Het
Slc41a3	A	T	6: 90,621,165 (GRCm39)	T402S	probably benign	Het
Slc9a2	A	G	1: 40,781,889 (GRCm39)	T373A	probably damaging	Het
Syne1	A	G	10: 5,181,783 (GRCm39)	V4184A	possibly damaging	Het
Tenm4	G	A	7: 96,544,239 (GRCm39)	R2122H	probably damaging	Het
Tlnrd1	A	T	7: 83,532,316 (GRCm39)	D38E	probably benign	Het
Tnnc2	C	T	2: 164,620,135 (GRCm39)	A6T	probably benign	Het
Usp9y	A	G	Y: 1,356,320 (GRCm39)	V1127A	probably benign	Het
Ylpm1	T	C	12: 85,077,195 (GRCm39)	Y1307H	probably damaging	Het
Zfp266	T	C	9: 20,411,509 (GRCm39)	S223G	probably benign	Het

Other mutations in Spata31d1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01525:Spata31d1b	APN	13	59,860,280 (GRCm39)	missense	probably benign	0.06
IGL02317:Spata31d1b	APN	13	59,865,854 (GRCm39)	missense	probably damaging	0.99
IGL02885:Spata31d1b	APN	13	59,866,941 (GRCm39)	utr 3 prime	probably benign
R0017:Spata31d1b	UTSW	13	59,863,883 (GRCm39)	missense	probably benign
R0071:Spata31d1b	UTSW	13	59,863,163 (GRCm39)	missense	probably benign	0.26
R0071:Spata31d1b	UTSW	13	59,863,163 (GRCm39)	missense	probably benign	0.26
R0595:Spata31d1b	UTSW	13	59,864,091 (GRCm39)	missense	probably benign	0.09
R0961:Spata31d1b	UTSW	13	59,865,618 (GRCm39)	missense	possibly damaging	0.91
R1054:Spata31d1b	UTSW	13	59,865,332 (GRCm39)	missense	probably damaging	0.96
R1124:Spata31d1b	UTSW	13	59,864,468 (GRCm39)	missense	probably benign
R1338:Spata31d1b	UTSW	13	59,865,975 (GRCm39)	frame shift	probably null
R1539:Spata31d1b	UTSW	13	59,863,733 (GRCm39)	missense	possibly damaging	0.46
R1662:Spata31d1b	UTSW	13	59,864,442 (GRCm39)	missense	probably benign	0.00
R1688:Spata31d1b	UTSW	13	59,863,274 (GRCm39)	missense	possibly damaging	0.61
R1776:Spata31d1b	UTSW	13	59,864,381 (GRCm39)	missense	probably benign
R1793:Spata31d1b	UTSW	13	59,863,779 (GRCm39)	missense	probably benign
R1838:Spata31d1b	UTSW	13	59,865,279 (GRCm39)	missense	probably benign	0.00
R1838:Spata31d1b	UTSW	13	59,863,671 (GRCm39)	missense	probably benign
R1861:Spata31d1b	UTSW	13	59,865,150 (GRCm39)	missense	possibly damaging	0.64
R1903:Spata31d1b	UTSW	13	59,865,882 (GRCm39)	missense	probably damaging	0.99
R1940:Spata31d1b	UTSW	13	59,865,835 (GRCm39)	missense	possibly damaging	0.91
R1994:Spata31d1b	UTSW	13	59,864,194 (GRCm39)	missense	probably benign
R1995:Spata31d1b	UTSW	13	59,864,194 (GRCm39)	missense	probably benign
R2407:Spata31d1b	UTSW	13	59,864,660 (GRCm39)	missense	possibly damaging	0.64
R3692:Spata31d1b	UTSW	13	59,865,705 (GRCm39)	missense	probably benign	0.03
R4576:Spata31d1b	UTSW	13	59,864,675 (GRCm39)	missense	probably damaging	0.98
R4734:Spata31d1b	UTSW	13	59,866,172 (GRCm39)	missense	probably damaging	1.00
R4742:Spata31d1b	UTSW	13	59,864,426 (GRCm39)	missense	probably damaging	0.98
R4749:Spata31d1b	UTSW	13	59,866,172 (GRCm39)	missense	probably damaging	1.00
R4806:Spata31d1b	UTSW	13	59,863,535 (GRCm39)	missense	probably benign	0.32
R4808:Spata31d1b	UTSW	13	59,863,535 (GRCm39)	missense	probably benign	0.32
R4844:Spata31d1b	UTSW	13	59,866,169 (GRCm39)	missense	possibly damaging	0.85
R4942:Spata31d1b	UTSW	13	59,864,917 (GRCm39)	missense	possibly damaging	0.70
R4953:Spata31d1b	UTSW	13	59,864,097 (GRCm39)	missense	probably damaging	0.96
R5093:Spata31d1b	UTSW	13	59,863,838 (GRCm39)	missense	possibly damaging	0.84
R5169:Spata31d1b	UTSW	13	59,864,309 (GRCm39)	missense	probably damaging	1.00
R5384:Spata31d1b	UTSW	13	59,866,032 (GRCm39)	missense	possibly damaging	0.68
R5386:Spata31d1b	UTSW	13	59,866,866 (GRCm39)	missense	possibly damaging	0.95
R5502:Spata31d1b	UTSW	13	59,864,486 (GRCm39)	missense	probably damaging	1.00
R5751:Spata31d1b	UTSW	13	59,866,787 (GRCm39)	missense	probably benign	0.03
R6054:Spata31d1b	UTSW	13	59,863,464 (GRCm39)	missense	probably benign
R6433:Spata31d1b	UTSW	13	59,864,999 (GRCm39)	missense	probably damaging	0.99
R6571:Spata31d1b	UTSW	13	59,865,269 (GRCm39)	missense	probably benign
R6980:Spata31d1b	UTSW	13	59,863,236 (GRCm39)	missense	probably benign	0.26
R7047:Spata31d1b	UTSW	13	59,860,249 (GRCm39)	missense	probably damaging	1.00
R7064:Spata31d1b	UTSW	13	59,863,955 (GRCm39)	missense	probably benign
R7147:Spata31d1b	UTSW	13	59,866,028 (GRCm39)	missense	probably benign	0.28
R7273:Spata31d1b	UTSW	13	59,865,446 (GRCm39)	missense	probably benign
R7359:Spata31d1b	UTSW	13	59,860,304 (GRCm39)	missense	probably damaging	1.00
R7457:Spata31d1b	UTSW	13	59,864,723 (GRCm39)	missense	probably damaging	0.99
R7469:Spata31d1b	UTSW	13	59,863,278 (GRCm39)	missense	probably benign	0.04
R7519:Spata31d1b	UTSW	13	59,864,726 (GRCm39)	missense	probably benign	0.43
R7548:Spata31d1b	UTSW	13	59,864,468 (GRCm39)	missense	probably benign
R7586:Spata31d1b	UTSW	13	59,866,194 (GRCm39)	missense	probably damaging	1.00
R7657:Spata31d1b	UTSW	13	59,863,577 (GRCm39)	missense	possibly damaging	0.46
R7778:Spata31d1b	UTSW	13	59,865,047 (GRCm39)	missense	possibly damaging	0.65
R7824:Spata31d1b	UTSW	13	59,865,047 (GRCm39)	missense	possibly damaging	0.65
R7989:Spata31d1b	UTSW	13	59,866,182 (GRCm39)	missense	possibly damaging	0.94
R8078:Spata31d1b	UTSW	13	59,863,263 (GRCm39)	missense	probably damaging	0.99
R8176:Spata31d1b	UTSW	13	59,865,117 (GRCm39)	missense	probably benign
R8530:Spata31d1b	UTSW	13	59,864,964 (GRCm39)	missense	unknown
R8776:Spata31d1b	UTSW	13	59,863,283 (GRCm39)	missense	probably benign	0.00
R9385:Spata31d1b	UTSW	13	59,863,403 (GRCm39)	missense	probably damaging	0.99
R9476:Spata31d1b	UTSW	13	59,863,467 (GRCm39)	missense	probably benign	0.08
R9522:Spata31d1b	UTSW	13	59,864,780 (GRCm39)	missense	probably benign	0.00
R9786:Spata31d1b	UTSW	13	59,866,155 (GRCm39)	missense	possibly damaging	0.56
R9789:Spata31d1b	UTSW	13	59,860,196 (GRCm39)	missense	probably benign	0.03
Z1177:Spata31d1b	UTSW	13	59,866,674 (GRCm39)	missense	probably benign	0.17
Z1177:Spata31d1b	UTSW	13	59,863,265 (GRCm39)	missense	probably benign	0.44
Z1177:Spata31d1b	UTSW	13	59,860,223 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2021-03-08