Mutagenetix > Incidental Mutation

Incidental Mutation 'R3692:Spata31d1b'

268830

Institutional Source

Beutler Lab

Gene Symbol

Spata31d1b

Ensembl Gene

ENSMUSG00000091311

Gene Name

spermatogenesis associated 31 subfamily D, member 1B

Synonyms

Gm4934, Fam75d1b

MMRRC Submission

040687-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R3692 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59860098-59867103 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59865705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 951 (V951A)

Ref Sequence

ENSEMBL: ENSMUSP00000130813 (fasta)

Gene Model

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

AlphaFold

E9QA57

Predicted Effect

probably benign
Transcript: ENSMUST00000165133
AA Change: V951A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000130813
Gene: ENSMUSG00000091311
AA Change: V951A

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	T	C	5: 121,657,385 (GRCm39)	D636G	probably damaging	Het
Adgrv1	A	G	13: 81,672,719 (GRCm39)	V2218A	possibly damaging	Het
Ano5	T	A	7: 51,240,327 (GRCm39)	Y752N	probably damaging	Het
Bltp2	A	G	11: 78,160,335 (GRCm39)	D598G	probably damaging	Het
Calca	T	C	7: 114,233,796 (GRCm39)	E45G	probably damaging	Het
Cdk8	C	T	5: 146,220,478 (GRCm39)	R166*	probably null	Het
Chsy1	T	A	7: 65,821,001 (GRCm39)	M412K	probably damaging	Het
Cic	T	A	7: 24,988,338 (GRCm39)	Y1675*	probably null	Het
Col1a2	T	A	6: 4,510,710 (GRCm39)	D53E	possibly damaging	Het
Dennd6b	A	G	15: 89,071,030 (GRCm39)		probably benign	Het
Fut10	T	A	8: 31,726,048 (GRCm39)	Y268N	possibly damaging	Het
Glrx3	T	C	7: 137,060,846 (GRCm39)		probably benign	Het
Gucy1b2	T	A	14: 62,642,076 (GRCm39)	N697I	probably damaging	Het
Ifi208	T	C	1: 173,510,438 (GRCm39)	S198P	possibly damaging	Het
Krt34	A	G	11: 99,929,857 (GRCm39)	V213A	probably damaging	Het
Lats2	T	C	14: 57,928,998 (GRCm39)	N959S	probably damaging	Het
Mat1a	A	G	14: 40,843,338 (GRCm39)	Y288C	probably damaging	Het
Mtif2	A	T	11: 29,490,718 (GRCm39)	H474L	probably benign	Het
Myh8	A	G	11: 67,192,744 (GRCm39)	I1512V	probably damaging	Het
Nkx2-6	T	C	14: 69,409,476 (GRCm39)	S76P	probably benign	Het
Noxred1	G	A	12: 87,280,240 (GRCm39)	R31W	probably benign	Het
Or14c46	T	A	7: 85,918,703 (GRCm39)	Q98L	probably damaging	Het
Or4a69	T	A	2: 89,313,240 (GRCm39)	M80L	probably benign	Het
Pcdhb16	C	A	18: 37,611,340 (GRCm39)	T100K	probably benign	Het
Pcdhga10	T	C	18: 37,881,384 (GRCm39)	C382R	probably damaging	Het
Pdgfra	A	T	5: 75,349,948 (GRCm39)	Y944F	possibly damaging	Het
Pkhd1	A	G	1: 20,625,353 (GRCm39)	I741T	possibly damaging	Het
Ppp1r10	A	G	17: 36,241,760 (GRCm39)	D845G	unknown	Het
Rfk	C	A	19: 17,376,834 (GRCm39)		probably null	Het
Rgs11	C	T	17: 26,423,302 (GRCm39)		probably benign	Het
St3gal5	T	C	6: 72,126,013 (GRCm39)	V286A	probably benign	Het
St7l	T	C	3: 104,798,870 (GRCm39)	M320T	probably benign	Het
Tnfrsf1b	G	T	4: 144,954,092 (GRCm39)	Q86K	probably benign	Het
Tox	T	C	4: 6,697,535 (GRCm39)	I423V	probably benign	Het
Tpbpa	T	A	13: 61,087,827 (GRCm39)	H88L	probably benign	Het
Vmn1r236	A	G	17: 21,507,068 (GRCm39)	Y62C	probably benign	Het
Ythdc1	A	G	5: 86,970,526 (GRCm39)	I399M	probably damaging	Het
Zfp948	T	G	17: 21,807,838 (GRCm39)	D343E	probably benign	Het
Zswim6	A	G	13: 107,863,076 (GRCm39)		noncoding transcript	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
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'- GGACAATGACTTCAGTCCCCAC -3'
(R):5'- TGGGTGCCTTTCAAGCTCTTAG -3'

Sequencing Primer
(F):5'- CCCAACAGAGGCCTCTTCCTG -3'
(R):5'- GCCTTTCAAGCTCTTAGTGGACTG -3'

Posted On

2015-02-19