Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02317:Spata31d1b'

288086

Institutional Source

Australian Phenomics Network (link to record)

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: 0.061) question?

Stock #

IGL02317

Quality Score

Status

Chromosome

Chromosomal Location

59860098-59867103 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59865854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1001 (S1001P)

Ref Sequence

ENSEMBL: ENSMUSP00000130813 (fasta)

Gene Model

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

AlphaFold

E9QA57

Predicted Effect

probably damaging
Transcript: ENSMUST00000165133
AA Change: S1001P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130813
Gene: ENSMUSG00000091311
AA Change: S1001P

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019M22Rik	T	C	12: 96,013,780 (GRCm39)		noncoding transcript	Het
Aadacl2fm3	A	G	3: 59,784,408 (GRCm39)	N294D	probably benign	Het
Aak1	C	T	6: 86,933,282 (GRCm39)	P418S	possibly damaging	Het
Abca5	T	A	11: 110,218,587 (GRCm39)	Q93L	probably benign	Het
Arhgap22	G	T	14: 33,081,230 (GRCm39)	V209L	probably damaging	Het
Atp6v1h	G	T	1: 5,154,693 (GRCm39)	R7L	possibly damaging	Het
Ccdc86	T	C	19: 10,920,556 (GRCm39)	Q420R	possibly damaging	Het
Cep85	C	T	4: 133,883,122 (GRCm39)	G256R	probably damaging	Het
Csmd2	T	C	4: 128,357,520 (GRCm39)		probably benign	Het
Dck	T	C	5: 88,921,942 (GRCm39)	Y135H	probably damaging	Het
Dicer1	T	C	12: 104,663,279 (GRCm39)	E1434G	probably damaging	Het
Dst	C	T	1: 34,334,244 (GRCm39)	T4824I	probably damaging	Het
Fam20c	G	A	5: 138,792,115 (GRCm39)	R404H	probably damaging	Het
Fat1	G	A	8: 45,478,855 (GRCm39)	A2611T	probably benign	Het
Fbxl13	C	T	5: 21,727,232 (GRCm39)	C555Y	probably benign	Het
Gprc6a	C	A	10: 51,497,049 (GRCm39)	R323L	probably benign	Het
Grik2	A	G	10: 49,298,711 (GRCm39)	F50L	probably benign	Het
Ibsp	A	G	5: 104,450,332 (GRCm39)	Y50C	probably damaging	Het
Il16	T	A	7: 83,316,097 (GRCm39)	H437L	probably damaging	Het
Irf9	G	A	14: 55,845,196 (GRCm39)	R352H	probably damaging	Het
Jph1	T	C	1: 17,074,147 (GRCm39)	T624A	probably benign	Het
Lama5	T	C	2: 179,833,112 (GRCm39)	Y1574C	probably damaging	Het
Lrrc26	A	G	2: 25,180,314 (GRCm39)	N105S	probably damaging	Het
Megf8	C	A	7: 25,063,213 (GRCm39)	T2523K	probably damaging	Het
Nckap1l	A	G	15: 103,370,005 (GRCm39)	I135V	probably benign	Het
Oma1	A	G	4: 103,176,234 (GRCm39)		probably benign	Het
Opa1	T	G	16: 29,433,984 (GRCm39)		probably null	Het
Or13j1	T	C	4: 43,706,172 (GRCm39)	Y132C	probably damaging	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or5m3b	T	C	2: 85,871,913 (GRCm39)	S85P	probably damaging	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Rab11b	C	T	17: 33,968,790 (GRCm39)	A43T	probably damaging	Het
Rabl2	A	T	15: 89,468,492 (GRCm39)	N133K	probably damaging	Het
Scn10a	C	T	9: 119,467,621 (GRCm39)	V840I	probably benign	Het
Tbc1d8	T	C	1: 39,415,985 (GRCm39)	E896G	probably benign	Het
Ube2o	T	C	11: 116,432,389 (GRCm39)	E859G	probably damaging	Het
Vmn1r197	A	G	13: 22,512,073 (GRCm39)		probably benign	Het
Vmn2r58	A	G	7: 41,486,765 (GRCm39)	I710T	possibly damaging	Het
Zmynd8	T	C	2: 165,662,492 (GRCm39)	T533A	possibly damaging	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
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
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

Posted On

2015-04-16