Mutagenetix > Incidental Mutation

Incidental Mutation 'R1054:Spata31d1b'

94218

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1b

Ensembl Gene

ENSMUSG00000091311

Gene Name

spermatogenesis associated 31 subfamily D, member 1B

Synonyms

Gm4934, Fam75d1b

MMRRC Submission

039144-MU

Accession Numbers

Essential gene?

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

Stock #

R1054 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59860098-59867103 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 59865332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 827 (H827N)

Ref Sequence

ENSEMBL: ENSMUSP00000130813 (fasta)

Gene Model

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

AlphaFold

E9QA57

Predicted Effect

probably damaging
Transcript: ENSMUST00000165133
AA Change: H827N

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000130813
Gene: ENSMUSG00000091311
AA Change: H827N

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	T	C	15: 76,635,759 (GRCm39)	T159A	probably benign	Het
Arhgef38	T	C	3: 132,822,226 (GRCm39)	Y763C	probably damaging	Het
Arv1	T	A	8: 125,458,611 (GRCm39)	F245Y	probably benign	Het
Ccdc175	A	G	12: 72,225,318 (GRCm39)	I113T	possibly damaging	Het
Cdc42bpb	A	T	12: 111,279,787 (GRCm39)	M932K	probably benign	Het
Cdh15	T	C	8: 123,591,076 (GRCm39)	F442L	possibly damaging	Het
Col28a1	C	T	6: 8,175,534 (GRCm39)	D105N	probably damaging	Het
Cpne4	A	G	9: 104,899,600 (GRCm39)	T428A	probably benign	Het
Cramp1	T	A	17: 25,202,151 (GRCm39)	I444F	probably damaging	Het
Dhx32	T	A	7: 133,327,001 (GRCm39)	K360M	probably damaging	Het
Dna2	T	A	10: 62,799,602 (GRCm39)	C669S	possibly damaging	Het
Dusp8	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	7: 141,635,804 (GRCm39)		probably benign	Het
Eif3f	G	A	7: 108,537,024 (GRCm39)		probably null	Het
Elmod1	T	C	9: 53,820,058 (GRCm39)	D310G	probably benign	Het
Fn1	A	G	1: 71,625,373 (GRCm39)	*2272Q	probably null	Het
Gnat1	A	G	9: 107,554,638 (GRCm39)	S76P	probably damaging	Het
Gtf2f2	T	C	14: 76,232,885 (GRCm39)	T94A	probably benign	Het
Hacd4	A	T	4: 88,341,264 (GRCm39)	W152R	probably damaging	Het
Kcnh8	A	G	17: 53,110,512 (GRCm39)	Y241C	probably damaging	Het
Lepr	T	C	4: 101,639,793 (GRCm39)	I753T	probably damaging	Het
Med12l	C	T	3: 59,156,072 (GRCm39)	H1162Y	probably damaging	Het
Med25	C	T	7: 44,529,804 (GRCm39)	A485T	probably benign	Het
Mup5	A	T	4: 61,750,871 (GRCm39)	S145R	probably benign	Het
Myo1g	A	G	11: 6,468,987 (GRCm39)	V105A	probably damaging	Het
Npc2	A	G	12: 84,807,492 (GRCm39)		probably null	Het
Or52h1	A	G	7: 103,829,498 (GRCm39)	I39T	probably benign	Het
Or6p1	A	G	1: 174,258,419 (GRCm39)	T142A	probably benign	Het
Otulinl	T	C	15: 27,664,635 (GRCm39)	R79G	probably damaging	Het
Pdzd2	A	G	15: 12,371,725 (GRCm39)	S2557P	probably damaging	Het
Pop1	T	C	15: 34,509,955 (GRCm39)	V353A	probably benign	Het
Pou3f2	A	G	4: 22,487,536 (GRCm39)	V199A	possibly damaging	Het
Pramel18	A	G	4: 101,766,361 (GRCm39)	E15G	probably benign	Het
Ptprm	A	T	17: 67,349,313 (GRCm39)	N43K	probably damaging	Het
Qrsl1	C	T	10: 43,758,077 (GRCm39)	D339N	probably damaging	Het
Rpl13-ps3	C	A	14: 59,131,394 (GRCm39)		noncoding transcript	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sdr16c6	A	G	4: 4,069,908 (GRCm39)	V144A	probably damaging	Het
Spata31e4	T	C	13: 50,856,432 (GRCm39)	V690A	probably benign	Het
Taf4b	T	A	18: 14,954,530 (GRCm39)	H535Q	probably benign	Het
Timmdc1	A	G	16: 38,342,790 (GRCm39)	V36A	probably benign	Het
Tmem74b	C	T	2: 151,548,339 (GRCm39)	A22V	probably benign	Het
Txnrd3	T	A	6: 89,627,543 (GRCm39)	Y65*	probably null	Het
Vmn1r200	T	A	13: 22,579,624 (GRCm39)	S133R	probably damaging	Het
Vwf	G	A	6: 125,567,190 (GRCm39)	C311Y	probably damaging	Het
Wipf2	G	A	11: 98,787,141 (GRCm39)	R390H	possibly damaging	Het
Zfp282	T	A	6: 47,881,533 (GRCm39)	S407T	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
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
R8776-TAIL: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

PCR Primer
(F):5'- TGCAGTCTCACTTGAAGACACACC -3'
(R):5'- GCAGGGTCTGCTCTAGAAACGTTG -3'

Sequencing Primer
(F):5'- TGAGATCCCTACCACAGTGGATAG -3'
(R):5'- CTAGAAACGTTGTGGGCTTGAAC -3'

Posted On

2014-01-05