Mutagenetix > Incidental Mutation

Incidental Mutation 'R9632:Spata31e5'

725541

Institutional Source

Beutler Lab

Gene Symbol

Spata31e5

Ensembl Gene

ENSMUSG00000048411

Gene Name

spermatogenesis associated 31 subfamily E member 5

Synonyms

Gm597, LOC210962

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R9632 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28776117-28780252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28778039 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 304 (Y304F)

Ref Sequence

ENSEMBL: ENSMUSP00000058140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059937]

AlphaFold

E9Q8J5

Predicted Effect

probably benign
Transcript: ENSMUST00000059937
AA Change: Y304F

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: Y304F

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
low complexity region	112	129	N/A	INTRINSIC
Pfam:FAM75	137	472	8.1e-14	PFAM
low complexity region	664	675	N/A	INTRINSIC
internal_repeat_1	718	807	1.4e-5	PROSPERO
internal_repeat_1	807	894	1.4e-5	PROSPERO

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,498,246 (GRCm38)	I570T	probably damaging	Het
Adamtsl4	G	A	3: 95,681,780 (GRCm38)	T447I	probably damaging	Het
Ahcyl1	T	A	3: 107,671,178 (GRCm38)	I248F	possibly damaging	Het
Arhgef2	T	C	3: 88,621,269 (GRCm38)	I4T	probably benign	Het
Bin2	T	C	15: 100,652,034 (GRCm38)	D176G	possibly damaging	Het
Bptf	T	A	11: 107,061,719 (GRCm38)	T2166S	probably damaging	Het
Cachd1	T	A	4: 100,974,895 (GRCm38)	N751K	probably benign	Het
Castor1	A	G	11: 4,219,015 (GRCm38)	K61E	probably benign	Het
CN725425	A	T	15: 91,242,648 (GRCm38)	T214S	possibly damaging	Het
Crtam	A	T	9: 40,984,375 (GRCm38)	D218E	probably benign	Het
Ctsj	C	T	13: 61,004,014 (GRCm38)	M76I	probably benign	Het
Cuedc1	C	A	11: 88,170,129 (GRCm38)	S99R	possibly damaging	Het
Cyp4a14	T	A	4: 115,492,150 (GRCm38)	I238F	probably benign	Het
Dnajb11	A	T	16: 22,862,594 (GRCm38)	I41F	probably damaging	Het
Drd3	A	G	16: 43,822,772 (GRCm38)	N425S	probably damaging	Het
Eci1	G	C	17: 24,426,885 (GRCm38)	G25R	probably damaging	Het
Etl4	A	T	2: 20,661,938 (GRCm38)	N52I	probably benign	Het
Fbxo34	T	C	14: 47,531,267 (GRCm38)	Y746H	probably damaging	Het
Fcgbpl1	A	G	7: 28,142,301 (GRCm38)	I554V	probably benign	Het
Fndc1	T	C	17: 7,772,790 (GRCm38)	I691M	unknown	Het
Fut8	A	G	12: 77,393,733 (GRCm38)	T165A	probably benign	Het
Galr1	A	T	18: 82,405,978 (GRCm38)	L58Q	probably damaging	Het
Glt28d2	T	C	3: 85,871,752 (GRCm38)	D138G	probably benign	Het
Gm11595	A	T	11: 99,772,271 (GRCm38)	C194*	probably null	Het
Gm14403	T	A	2: 177,509,628 (GRCm38)	N213K	probably benign	Het
Gmpr	T	C	13: 45,546,043 (GRCm38)	V343A	probably benign	Het
Hacd1	T	C	2: 14,035,867 (GRCm38)	N152D	possibly damaging	Het
Hcn1	A	G	13: 117,873,986 (GRCm38)	S367G	probably benign	Het
Impg1	A	G	9: 80,379,994 (GRCm38)	V390A	probably benign	Het
Itpr1	T	C	6: 108,405,520 (GRCm38)	C1458R	possibly damaging	Het
Kif16b	A	T	2: 142,712,040 (GRCm38)	V946E	probably benign	Het
Krt71	T	C	15: 101,736,553 (GRCm38)	E441G	probably damaging	Het
Lhcgr	A	G	17: 88,742,104 (GRCm38)	F665L	probably benign	Het
Lrrc37	T	A	11: 103,542,426 (GRCm38)	S3306C	unknown	Het
Lzic	T	A	4: 149,488,684 (GRCm38)	F98I	probably damaging	Het
Map3k8	A	T	18: 4,339,546 (GRCm38)	V275D	probably damaging	Het
Marchf8	C	T	6: 116,401,444 (GRCm38)	T113I	possibly damaging	Het
Mmp15	A	G	8: 95,372,103 (GRCm38)		probably null	Het
Mpst	A	G	15: 78,410,269 (GRCm38)	D67G	probably damaging	Het
Nanog	T	C	6: 122,707,840 (GRCm38)	S20P	probably benign	Het
Ndufc2	T	C	7: 97,406,895 (GRCm38)	S67P	probably damaging	Het
Nrg1	T	C	8: 31,917,593 (GRCm38)	K204R	possibly damaging	Het
Nsf	T	A	11: 103,823,768 (GRCm38)	K728N	probably damaging	Het
Nutm2	C	A	13: 50,474,865 (GRCm38)	P655H	probably benign	Het
Obscn	G	A	11: 59,052,571 (GRCm38)	R4251C	probably benign	Het
Or10g9	A	T	9: 40,000,876 (GRCm38)	M117K	probably damaging	Het
Or11h4	C	T	14: 50,736,742 (GRCm38)	C140Y	probably benign	Het
Or4a15	T	C	2: 89,362,721 (GRCm38)	Y236C	probably damaging	Het
Or4c102	A	T	2: 88,592,713 (GRCm38)	Q303L	probably benign	Het
Or4c120	T	C	2: 89,171,408 (GRCm38)		probably benign	Het
Or56a5	T	A	7: 105,143,958 (GRCm38)	T112S	probably benign	Het
Otog	A	T	7: 46,265,719 (GRCm38)	Q836L	probably benign	Het
Pcdhb11	T	C	18: 37,422,966 (GRCm38)	F450L	probably damaging	Het
Pelp1	T	C	11: 70,394,009 (GRCm38)	E1011G	unknown	Het
Pfkfb3	T	G	2: 11,481,298 (GRCm38)	R459S	probably benign	Het
Pgm2	T	C	4: 99,986,721 (GRCm38)	L567P	probably damaging	Het
Phf2	T	A	13: 48,817,816 (GRCm38)	D460V	unknown	Het
Polr1f	G	A	12: 33,429,724 (GRCm38)	G24R	possibly damaging	Het
Pou5f1	G	A	17: 35,508,834 (GRCm38)		probably benign	Het
Pou6f2	T	C	13: 18,125,263 (GRCm38)	R604G		Het
Pramel5	T	A	4: 144,272,975 (GRCm38)	I181F	probably benign	Het
Ptprc	T	C	1: 138,080,889 (GRCm38)	R687G	probably damaging	Het
Ptprz1	T	A	6: 23,007,293 (GRCm38)	H1618Q	probably damaging	Het
Qars1	G	A	9: 108,514,383 (GRCm38)	D618N	probably damaging	Het
Ripply3	A	G	16: 94,333,280 (GRCm38)	T68A	probably benign	Het
Rrad	A	G	8: 104,629,688 (GRCm38)	M160T	probably benign	Het
Rtn1	A	G	12: 72,304,187 (GRCm38)	V416A	probably damaging	Het
Rttn	A	G	18: 89,017,210 (GRCm38)	N736S	possibly damaging	Het
Sash1	A	T	10: 8,740,205 (GRCm38)	V631E	probably damaging	Het
Selenof	T	A	3: 144,577,609 (GRCm38)	F33L	probably benign	Het
Serpinb6b	A	T	13: 32,971,549 (GRCm38)	N82Y	possibly damaging	Het
Sez6	G	A	11: 77,974,295 (GRCm38)	E623K	possibly damaging	Het
Shpk	G	T	11: 73,213,412 (GRCm38)	R129L	probably damaging	Het
Slc2a10	A	C	2: 165,516,256 (GRCm38)	I434L	probably damaging	Het
Slc30a6	G	T	17: 74,423,064 (GRCm38)	M316I	probably benign	Het
Slx4	A	T	16: 3,986,105 (GRCm38)	H948Q	probably benign	Het
Sncaip	A	G	18: 52,906,654 (GRCm38)	E640G	probably damaging	Het
Sox7	G	A	14: 63,948,060 (GRCm38)	A182T	probably benign	Het
Srcin1	A	G	11: 97,551,822 (GRCm38)	I60T	probably benign	Het
Srm	C	T	4: 148,591,582 (GRCm38)		probably benign	Het
Srrt	A	T	5: 137,298,427 (GRCm38)	M447K	possibly damaging	Het
Stam	A	T	2: 14,117,393 (GRCm38)	H101L	probably damaging	Het
Suz12	C	T	11: 80,024,922 (GRCm38)	T407M	possibly damaging	Het
Tbc1d10b	A	G	7: 127,207,864 (GRCm38)	V167A	probably benign	Het
Trav16	T	A	14: 53,743,453 (GRCm38)	V33E	possibly damaging	Het
Tshr	C	T	12: 91,537,635 (GRCm38)	P449L	probably damaging	Het
Ttc17	A	G	2: 94,378,752 (GRCm38)	V119A	probably damaging	Het
Ttc19	A	G	11: 62,313,171 (GRCm38)	I319M	probably benign	Het
Ttc6	A	G	12: 57,617,513 (GRCm38)	M351V	probably benign	Het
Ttn	A	T	2: 76,919,866 (GRCm38)	V3613E	probably benign	Het
Ttn	G	A	2: 76,884,553 (GRCm38)	R8026*	probably null	Het
Txndc16	T	C	14: 45,163,010 (GRCm38)	I345V	probably benign	Het
Ube3b	T	C	5: 114,415,309 (GRCm38)	I914T	probably benign	Het
Vmn1r73	T	C	7: 11,756,480 (GRCm38)	F75S	possibly damaging	Het
Vmn2r54	A	T	7: 12,629,826 (GRCm38)	M380K	possibly damaging	Het
Zfp820	T	C	17: 21,819,126 (GRCm38)	Y407C	probably damaging	Het
Zic5	C	T	14: 122,464,375 (GRCm38)	A315T	unknown	Het
Zmiz1	C	A	14: 25,662,987 (GRCm38)	D1053E	unknown	Het

Other mutations in Spata31e5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Spata31e5	APN	1	28,778,651 (GRCm38)	missense	possibly damaging	0.94
IGL00885:Spata31e5	APN	1	28,776,845 (GRCm38)	missense	unknown
IGL01296:Spata31e5	APN	1	28,777,056 (GRCm38)	missense	probably benign	0.23
IGL01476:Spata31e5	APN	1	28,777,453 (GRCm38)	missense	probably benign	0.04
IGL02125:Spata31e5	APN	1	28,776,338 (GRCm38)	missense	possibly damaging	0.91
IGL02410:Spata31e5	APN	1	28,778,631 (GRCm38)	missense	probably benign	0.25
IGL02982:Spata31e5	APN	1	28,778,054 (GRCm38)	missense	probably damaging	1.00
IGL03031:Spata31e5	APN	1	28,778,583 (GRCm38)	missense	probably benign	0.03
IGL03267:Spata31e5	APN	1	28,777,121 (GRCm38)	missense	probably damaging	1.00
R0294:Spata31e5	UTSW	1	28,778,663 (GRCm38)	missense	probably benign	0.00
R0433:Spata31e5	UTSW	1	28,777,342 (GRCm38)	nonsense	probably null
R0485:Spata31e5	UTSW	1	28,778,142 (GRCm38)	missense	probably damaging	1.00
R0645:Spata31e5	UTSW	1	28,776,930 (GRCm38)	missense	probably damaging	0.99
R0744:Spata31e5	UTSW	1	28,777,821 (GRCm38)	missense	possibly damaging	0.46
R0836:Spata31e5	UTSW	1	28,777,821 (GRCm38)	missense	possibly damaging	0.46
R1036:Spata31e5	UTSW	1	28,777,802 (GRCm38)	missense	probably benign	0.01
R1302:Spata31e5	UTSW	1	28,776,340 (GRCm38)	missense	probably benign	0.00
R1394:Spata31e5	UTSW	1	28,776,809 (GRCm38)	missense	possibly damaging	0.61
R1395:Spata31e5	UTSW	1	28,776,809 (GRCm38)	missense	possibly damaging	0.61
R1514:Spata31e5	UTSW	1	28,778,748 (GRCm38)	missense	possibly damaging	0.83
R1535:Spata31e5	UTSW	1	28,777,424 (GRCm38)	missense	probably damaging	1.00
R2004:Spata31e5	UTSW	1	28,777,179 (GRCm38)	missense	probably damaging	1.00
R2021:Spata31e5	UTSW	1	28,778,153 (GRCm38)	missense	probably damaging	0.98
R2022:Spata31e5	UTSW	1	28,778,153 (GRCm38)	missense	probably damaging	0.98
R3115:Spata31e5	UTSW	1	28,776,329 (GRCm38)	missense	possibly damaging	0.92
R3615:Spata31e5	UTSW	1	28,776,575 (GRCm38)	missense	probably benign	0.26
R3616:Spata31e5	UTSW	1	28,776,575 (GRCm38)	missense	probably benign	0.26
R3862:Spata31e5	UTSW	1	28,777,641 (GRCm38)	missense	probably damaging	0.98
R4067:Spata31e5	UTSW	1	28,777,631 (GRCm38)	missense	probably damaging	0.98
R4119:Spata31e5	UTSW	1	28,777,973 (GRCm38)	missense	probably damaging	0.99
R4415:Spata31e5	UTSW	1	28,777,133 (GRCm38)	missense	probably benign	0.01
R5010:Spata31e5	UTSW	1	28,777,862 (GRCm38)	missense	possibly damaging	0.52
R5109:Spata31e5	UTSW	1	28,777,555 (GRCm38)	missense	possibly damaging	0.46
R5122:Spata31e5	UTSW	1	28,780,060 (GRCm38)	missense	probably benign	0.00
R5533:Spata31e5	UTSW	1	28,778,082 (GRCm38)	missense	probably damaging	1.00
R6085:Spata31e5	UTSW	1	28,778,227 (GRCm38)	missense	possibly damaging	0.55
R6116:Spata31e5	UTSW	1	28,778,699 (GRCm38)	missense	probably benign	0.01
R6750:Spata31e5	UTSW	1	28,777,414 (GRCm38)	missense	probably damaging	0.98
R6757:Spata31e5	UTSW	1	28,780,110 (GRCm38)	missense	probably damaging	0.98
R6774:Spata31e5	UTSW	1	28,776,893 (GRCm38)	missense	probably benign	0.00
R7156:Spata31e5	UTSW	1	28,776,767 (GRCm38)	missense	possibly damaging	0.53
R7365:Spata31e5	UTSW	1	28,780,152 (GRCm38)	missense	probably benign	0.04
R7739:Spata31e5	UTSW	1	28,777,608 (GRCm38)	missense	possibly damaging	0.72
R7996:Spata31e5	UTSW	1	28,778,406 (GRCm38)	missense	probably damaging	0.98
R8082:Spata31e5	UTSW	1	28,777,498 (GRCm38)	missense	probably benign	0.08
R8281:Spata31e5	UTSW	1	28,778,144 (GRCm38)	missense	possibly damaging	0.77
R8514:Spata31e5	UTSW	1	28,778,505 (GRCm38)	missense	probably damaging	1.00
R8944:Spata31e5	UTSW	1	28,777,074 (GRCm38)	missense	probably benign	0.00
R9042:Spata31e5	UTSW	1	28,776,956 (GRCm38)	missense	possibly damaging	0.72
R9101:Spata31e5	UTSW	1	28,776,659 (GRCm38)	missense	probably benign	0.04
R9106:Spata31e5	UTSW	1	28,776,894 (GRCm38)	missense	probably benign	0.00
R9173:Spata31e5	UTSW	1	28,777,349 (GRCm38)	missense	probably benign	0.22
R9596:Spata31e5	UTSW	1	28,776,607 (GRCm38)	missense	probably benign	0.07
R9656:Spata31e5	UTSW	1	28,777,455 (GRCm38)	missense	probably benign	0.02
R9659:Spata31e5	UTSW	1	28,777,455 (GRCm38)	missense	probably benign	0.02
R9661:Spata31e5	UTSW	1	28,777,455 (GRCm38)	missense	probably benign	0.02
R9663:Spata31e5	UTSW	1	28,777,455 (GRCm38)	missense	probably benign	0.02
R9710:Spata31e5	UTSW	1	28,778,039 (GRCm38)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- AAGAGCATCCCTGTGAGTTCG -3'
(R):5'- CCTTCGCAACACTGATATAGGG -3'

Sequencing Primer
(F):5'- GAGTTCGGACCCCACCATCTTG -3'
(R):5'- TTCGCAACACTGATATAGGGATACAG -3'

Posted On

2022-09-12