Mutagenetix > Incidental Mutation

Incidental Mutation 'R9371:Spata31e1'

709334

Institutional Source

Beutler Lab

Gene Symbol

Spata31e1

Ensembl Gene

ENSMUSG00000114073

Gene Name

spermatogenesis associated 31 subfamily E member 1

Synonyms

Gm30302

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R9371 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49938173-49943728 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 49939052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 886 (T886S)

Ref Sequence

ENSEMBL: ENSMUSP00000152227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000220773] [ENSMUST00000223497]

AlphaFold

A0A1Y7VN40

Predicted Effect

unknown
Transcript: ENSMUST00000220773
AA Change: T886S

Predicted Effect

probably benign
Transcript: ENSMUST00000223497

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	C	6: 40,943,663 (GRCm39)	I109T	probably damaging	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Abca8b	T	G	11: 109,858,498 (GRCm39)	Q568P	probably damaging	Het
Add3	A	G	19: 53,221,499 (GRCm39)	T204A	probably damaging	Het
Afg3l2	C	A	18: 67,567,262 (GRCm39)	R196L	possibly damaging	Het
Agps	T	A	2: 75,742,024 (GRCm39)		probably null	Het
Akap9	A	G	5: 4,011,852 (GRCm39)	S852G	possibly damaging	Het
Aoc1	A	G	6: 48,883,102 (GRCm39)	D326G	probably benign	Het
Cecr2	A	G	6: 120,739,229 (GRCm39)	T1319A	probably benign	Het
Cenpo	C	T	12: 4,266,686 (GRCm39)	V141I	probably benign	Het
Clca4b	A	G	3: 144,631,845 (GRCm39)	L220S	possibly damaging	Het
Dicer1	A	G	12: 104,670,991 (GRCm39)	L1017P	probably damaging	Het
Ero1b	T	G	13: 12,589,728 (GRCm39)	C44G	probably damaging	Het
Ffar2	A	T	7: 30,518,929 (GRCm39)	W204R	probably benign	Het
Fmo3	T	A	1: 162,796,281 (GRCm39)	E97V	probably benign	Het
Gcnt4	G	T	13: 97,083,634 (GRCm39)	R310L	possibly damaging	Het
Gm7298	A	G	6: 121,744,541 (GRCm39)	I520V	probably benign	Het
Gmpr	T	C	13: 45,699,471 (GRCm39)	L327P	probably damaging	Het
Grid2	T	A	6: 64,677,506 (GRCm39)	H108Q	unknown	Het
Hmcn2	G	T	2: 31,301,917 (GRCm39)	L2935F	probably damaging	Het
Hnf1b	T	C	11: 83,779,986 (GRCm39)	S440P	probably benign	Het
Hsph1	A	T	5: 149,543,395 (GRCm39)	Y644N	probably damaging	Het
Igf2r	A	G	17: 12,924,646 (GRCm39)	I1057T	possibly damaging	Het
Igfn1	T	C	1: 135,906,001 (GRCm39)	E269G	probably damaging	Het
Igkv14-126	A	G	6: 67,873,352 (GRCm39)	T27A	possibly damaging	Het
Inhca	A	T	9: 103,158,252 (GRCm39)	Y103N	probably benign	Het
Kcnj15	A	G	16: 95,097,556 (GRCm39)	R393G	unknown	Het
Lamb1	A	G	12: 31,348,863 (GRCm39)	T632A	probably damaging	Het
Lrrk2	T	C	15: 91,607,407 (GRCm39)	L590P	probably damaging	Het
Mrm3	A	G	11: 76,138,286 (GRCm39)	T225A	possibly damaging	Het
Mthfd1l	A	G	10: 4,053,335 (GRCm39)	T895A	possibly damaging	Het
Myh1	G	A	11: 67,110,631 (GRCm39)		probably null	Het
Naip2	T	A	13: 100,298,354 (GRCm39)	K561*	probably null	Het
Necab2	C	T	8: 120,173,923 (GRCm39)	P44S	probably benign	Het
Nrde2	T	C	12: 100,092,477 (GRCm39)	S1126G	probably benign	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or14j6	A	G	17: 38,214,962 (GRCm39)	H175R	probably benign	Het
Or8c17	T	A	9: 38,179,926 (GRCm39)	V31E	possibly damaging	Het
Pecam1	T	G	11: 106,581,947 (GRCm39)	D333A	probably benign	Het
Prss27	T	C	17: 24,257,141 (GRCm39)		probably benign	Het
Rapgef2	T	C	3: 79,082,300 (GRCm39)	E100G	probably damaging	Het
Rnft2	A	G	5: 118,340,982 (GRCm39)	F299L	probably damaging	Het
Rptor	A	G	11: 119,562,152 (GRCm39)	N105S	possibly damaging	Het
S100a7l2	T	C	3: 90,997,698 (GRCm39)	T6A	unknown	Het
Scgb2b3	T	A	7: 31,059,642 (GRCm39)	H44L	probably benign	Het
Slc22a17	A	T	14: 55,147,139 (GRCm39)	V53D	possibly damaging	Het
Slc39a14	G	A	14: 70,547,569 (GRCm39)	T298M	probably benign	Het
Sorbs1	G	A	19: 40,315,324 (GRCm39)	T496M	probably damaging	Het
Taar8a	T	C	10: 23,952,753 (GRCm39)	V119A	probably benign	Het
Tas1r3	T	C	4: 155,945,059 (GRCm39)	T721A	possibly damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmie	A	T	9: 110,696,651 (GRCm39)	C77S	probably damaging	Het
Tpp2	T	A	1: 43,999,369 (GRCm39)	I381K	probably damaging	Het
Ttn	G	C	2: 76,776,822 (GRCm39)	A1526G	unknown	Het
Vmn2r12	T	A	5: 109,234,452 (GRCm39)	M587L	probably benign	Het
Zeb2	G	T	2: 44,888,912 (GRCm39)	H344Q	probably damaging	Het
Zfp292	A	G	4: 34,810,800 (GRCm39)	I753T	probably damaging	Het
Zfp442	A	T	2: 150,250,676 (GRCm39)	C409S	unknown	Het
Zfp677	C	T	17: 21,618,053 (GRCm39)	T370M	probably damaging	Het
Zfp947	G	A	17: 22,364,384 (GRCm39)	T430I	possibly damaging	Het

Other mutations in Spata31e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6813:Spata31e1	UTSW	13	49,940,872 (GRCm39)	missense	probably benign	0.03
R7638:Spata31e1	UTSW	13	49,940,451 (GRCm39)	missense	probably benign	0.02
R7881:Spata31e1	UTSW	13	49,943,547 (GRCm39)	missense	possibly damaging	0.83
R8097:Spata31e1	UTSW	13	49,943,676 (GRCm39)	start codon destroyed	probably benign	0.02
R8113:Spata31e1	UTSW	13	49,939,548 (GRCm39)	missense	probably benign	0.18
R8414:Spata31e1	UTSW	13	49,941,273 (GRCm39)	missense	probably damaging	1.00
R8537:Spata31e1	UTSW	13	49,940,108 (GRCm39)	missense	possibly damaging	0.62
R8787:Spata31e1	UTSW	13	49,938,704 (GRCm39)	missense	probably damaging	0.97
R8864:Spata31e1	UTSW	13	49,940,988 (GRCm39)	missense	probably benign	0.18
R8973:Spata31e1	UTSW	13	49,941,715 (GRCm39)	missense	probably benign	0.00
R8974:Spata31e1	UTSW	13	49,939,556 (GRCm39)	missense	probably benign	0.00
R9060:Spata31e1	UTSW	13	49,940,087 (GRCm39)	missense	probably damaging	0.97
R9162:Spata31e1	UTSW	13	49,939,310 (GRCm39)	missense	possibly damaging	0.66
R9399:Spata31e1	UTSW	13	49,940,175 (GRCm39)	missense	possibly damaging	0.89
R9778:Spata31e1	UTSW	13	49,939,542 (GRCm39)	missense	possibly damaging	0.59
R9782:Spata31e1	UTSW	13	49,939,542 (GRCm39)	missense	possibly damaging	0.59
Z1176:Spata31e1	UTSW	13	49,941,324 (GRCm39)	missense	probably damaging	1.00
Z1176:Spata31e1	UTSW	13	49,939,938 (GRCm39)	missense	possibly damaging	0.79
Z1176:Spata31e1	UTSW	13	49,938,860 (GRCm39)	missense	possibly damaging	0.90
Z1177:Spata31e1	UTSW	13	49,940,651 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- ATGGCTGTTTCCTTTCGGAC -3'
(R):5'- CCTGAGAGTCTGGCTGATATGC -3'

Sequencing Primer
(F):5'- TCGGACTAGTGTGATCACAACTC -3'
(R):5'- TATGCCAGGAAATGTAAGAAGGCTTC -3'

Posted On

2022-04-18