Mutagenetix > Incidental Mutation

Incidental Mutation 'R6813:Spata31e1'

533973

Institutional Source

Beutler Lab

Gene Symbol

Spata31e1

Ensembl Gene

ENSMUSG00000114073

Gene Name

spermatogenesis associated 31 subfamily E member 1

Synonyms

Gm30302

MMRRC Submission

044925-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R6813 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49938173-49943728 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49940872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 279 (R279S)

Ref Sequence

ENSEMBL: ENSMUSP00000152227 (fasta)

Gene Model

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

AlphaFold

A0A1Y7VN40

Predicted Effect

probably benign
Transcript: ENSMUST00000220773
AA Change: R279S

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000223497

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 96.9%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	C	A	4: 129,903,284 (GRCm39)	Q603K	probably damaging	Het
Adgrf3	A	G	5: 30,402,519 (GRCm39)	F503S	probably damaging	Het
Arfgap3	A	T	15: 83,214,794 (GRCm39)	M164K	probably benign	Het
Asb13	G	T	13: 3,695,029 (GRCm39)	V166F	probably damaging	Het
Atm	T	G	9: 53,408,535 (GRCm39)	R1103S	probably benign	Het
Atxn7l1	T	C	12: 33,417,123 (GRCm39)	I626T	probably damaging	Het
Brsk2	A	G	7: 141,556,214 (GRCm39)	I649V	probably benign	Het
Ccdc25	T	A	14: 66,093,882 (GRCm39)	M85K	probably benign	Het
Cdc42bpb	A	G	12: 111,294,049 (GRCm39)	V231A	probably damaging	Het
Clstn3	T	A	6: 124,413,894 (GRCm39)	M767L	probably benign	Het
Col6a6	C	T	9: 105,661,140 (GRCm39)	R323K	probably benign	Het
Cplane1	T	A	15: 8,258,766 (GRCm39)	N2337K	probably benign	Het
Creld1	A	G	6: 113,466,530 (GRCm39)	Y199C	probably damaging	Het
Csf1r	T	A	18: 61,245,806 (GRCm39)	D254E	probably benign	Het
Dab2ip	C	T	2: 35,620,485 (GRCm39)	Q1118*	probably null	Het
Dcun1d4	C	A	5: 73,678,300 (GRCm39)	S98R	possibly damaging	Het
Disp3	G	A	4: 148,344,387 (GRCm39)	P505L	probably benign	Het
Dlec1	A	T	9: 118,941,170 (GRCm39)	Q240L	probably benign	Het
Dnai4	T	C	4: 102,905,523 (GRCm39)	K753E	probably benign	Het
Edil3	T	A	13: 89,437,575 (GRCm39)	I392N	probably damaging	Het
Epha10	T	A	4: 124,796,486 (GRCm39)	S398R		Het
Ephb1	A	G	9: 101,887,247 (GRCm39)	I464T	possibly damaging	Het
Eps15	T	A	4: 109,137,599 (GRCm39)		probably null	Het
Fam111a	T	A	19: 12,564,706 (GRCm39)	C152S	probably damaging	Het
Flt3	T	C	5: 147,291,653 (GRCm39)	E599G	probably damaging	Het
Frmd3	T	C	4: 74,077,482 (GRCm39)	S259P	probably benign	Het
Hsfy2	A	G	1: 56,675,461 (GRCm39)	Y359H	possibly damaging	Het
Ifih1	C	T	2: 62,476,037 (GRCm39)	V80M	possibly damaging	Het
Il12rb2	A	C	6: 67,269,358 (GRCm39)	D818E	probably damaging	Het
Il4i1	A	G	7: 44,489,236 (GRCm39)	T334A	probably benign	Het
Irs2	G	A	8: 11,054,659 (GRCm39)	Q1258*	probably null	Het
Lsm1	T	G	8: 26,283,721 (GRCm39)	H44Q	probably benign	Het
Mgam	A	T	6: 40,727,099 (GRCm39)	M1257L	probably damaging	Het
Myc	T	C	15: 61,860,001 (GRCm39)	S225P	probably damaging	Het
Myh1	T	C	11: 67,111,286 (GRCm39)	V1575A	probably benign	Het
Myo9b	A	G	8: 71,775,949 (GRCm39)	D380G	probably damaging	Het
Ncoa7	T	A	10: 30,572,188 (GRCm39)	D157V	probably damaging	Het
Or10g9b	T	A	9: 39,917,753 (GRCm39)	H164L	probably benign	Het
Or2t44	G	T	11: 58,677,472 (GRCm39)	Q137H	probably benign	Het
Or7g16	G	A	9: 18,727,188 (GRCm39)	T134M	probably benign	Het
Or8b36	T	C	9: 37,937,129 (GRCm39)	V9A	probably damaging	Het
Or8b9	A	C	9: 37,766,810 (GRCm39)	E232A	possibly damaging	Het
Pccb	A	G	9: 100,905,268 (GRCm39)	V117A	probably damaging	Het
Pdp2	C	T	8: 105,321,131 (GRCm39)	H327Y	probably damaging	Het
Pdzph1	G	T	17: 59,281,431 (GRCm39)	Q284K	probably benign	Het
Phka2	G	A	X: 159,316,044 (GRCm39)	V230I	probably damaging	Het
Phldb1	A	T	9: 44,610,865 (GRCm39)	S751R	probably damaging	Het
Pira1	T	C	7: 3,739,002 (GRCm39)	H535R	probably benign	Het
Ppp1r1b	T	A	11: 98,240,002 (GRCm39)		probably null	Het
Ppp1r3a	A	G	6: 14,719,570 (GRCm39)	V448A	probably benign	Het
Pvrig-ps	A	T	5: 138,340,312 (GRCm39)	T28S	probably benign	Het
Rasgrf1	G	A	9: 89,892,537 (GRCm39)		probably null	Het
Scnn1g	T	C	7: 121,339,576 (GRCm39)	L125S	probably damaging	Het
Slc30a7	A	T	3: 115,775,460 (GRCm39)	D221E	probably benign	Het
Tmem30c	A	G	16: 57,101,622 (GRCm39)		probably null	Het
Tmem33	T	C	5: 67,421,802 (GRCm39)		probably null	Het
Ttc29	A	T	8: 79,060,249 (GRCm39)	T390S	probably benign	Het
Vamp5	G	A	6: 72,357,424 (GRCm39)		probably benign	Het
Vmn2r81	T	A	10: 79,104,439 (GRCm39)	F354Y	probably benign	Het
Vmn2r96	A	G	17: 18,802,116 (GRCm39)	H119R	probably benign	Het
Wdr3	G	A	3: 100,046,041 (GRCm39)	R931*	probably null	Het
Wtap	A	T	17: 13,186,397 (GRCm39)	N383K	probably damaging	Het
Zfp808	T	C	13: 62,320,849 (GRCm39)	Y693H	probably damaging	Het

Other mutations in Spata31e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9371:Spata31e1	UTSW	13	49,939,052 (GRCm39)	missense	unknown
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'- AAATGTCCTGCAGGGTTCATC -3'
(R):5'- TCCTAGATGTGACAGAGACCC -3'

Sequencing Primer
(F):5'- GTTCATCAGCTCCTGGAAGCAAG -3'
(R):5'- GATGTGACAGAGACCCCGCTAC -3'

Posted On

2018-09-12