Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02410:Spata31e5'

292257

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spata31e5

Ensembl Gene

ENSMUSG00000048411

Gene Name

spermatogenesis associated 31 subfamily E member 5

Synonyms

Gm597, LOC210962

Accession Numbers

Essential gene?

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

Stock #

IGL02410

Quality Score

Status

Chromosome

Chromosomal Location

28776117-28780252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28778631 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 107 (S107P)

Ref Sequence

ENSEMBL: ENSMUSP00000058140 (fasta)

Gene Model

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

AlphaFold

E9Q8J5

Predicted Effect

probably benign
Transcript: ENSMUST00000059937
AA Change: S107P

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: S107P

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	G	A	1: 165,510,408 (GRCm38)	C197Y	probably damaging	Het
Ano2	A	G	6: 125,815,533 (GRCm38)		probably null	Het
Aqr	A	G	2: 114,136,917 (GRCm38)	V539A	possibly damaging	Het
Bnip3	C	A	7: 138,898,799 (GRCm38)	G21C	probably damaging	Het
Cul1	T	A	6: 47,485,014 (GRCm38)	M37K	probably damaging	Het
Dazl	T	C	17: 50,293,398 (GRCm38)		probably benign	Het
Dsg2	A	G	18: 20,602,132 (GRCm38)	T1056A	probably benign	Het
Ewsr1	A	G	11: 5,093,863 (GRCm38)		probably benign	Het
Fam167b	G	A	4: 129,578,218 (GRCm38)	A53V	probably benign	Het
Fat3	T	C	9: 15,997,845 (GRCm38)	Y2287C	probably damaging	Het
H2-M10.3	A	T	17: 36,366,536 (GRCm38)	H283Q	probably damaging	Het
Hectd2	C	T	19: 36,595,213 (GRCm38)	R39*	probably null	Het
Hnrnph3	A	G	10: 63,015,724 (GRCm38)		probably benign	Het
Hps4	T	C	5: 112,370,227 (GRCm38)	V362A	probably benign	Het
Igkv9-120	A	C	6: 68,050,043 (GRCm38)		probably benign	Het
Krt16	A	T	11: 100,246,336 (GRCm38)		probably benign	Het
Lamc3	A	G	2: 31,905,965 (GRCm38)	T417A	probably damaging	Het
Loxhd1	T	C	18: 77,402,952 (GRCm38)	V1307A	probably benign	Het
Mpdz	T	C	4: 81,297,493 (GRCm38)	E1511G	probably benign	Het
Nprl3	A	T	11: 32,267,539 (GRCm38)	M1K	probably null	Het
Or9i2	A	G	19: 13,839,131 (GRCm38)	I14T	probably benign	Het
Ppp1r15a	A	G	7: 45,524,055 (GRCm38)	V443A	probably damaging	Het
Psmd1	T	G	1: 86,077,437 (GRCm38)	L198V	probably damaging	Het
Rapgef4	A	T	2: 72,226,594 (GRCm38)	I566F	possibly damaging	Het
Rbbp8	T	A	18: 11,732,212 (GRCm38)	D719E	probably damaging	Het
Siah2	T	C	3: 58,676,047 (GRCm38)	R273G	probably damaging	Het
Siglecg	C	T	7: 43,408,829 (GRCm38)	P47S	probably damaging	Het
Sox6	A	G	7: 115,486,744 (GRCm38)	S621P	probably damaging	Het
Ttn	C	A	2: 76,724,934 (GRCm38)	A30576S	probably benign	Het
Ttyh1	A	G	7: 4,133,899 (GRCm38)		probably benign	Het
Ush2a	C	T	1: 188,915,997 (GRCm38)	R4600C	probably damaging	Het
Usp36	C	T	11: 118,276,185 (GRCm38)	V289M	probably damaging	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
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
R9632:Spata31e5	UTSW	1	28,778,039 (GRCm38)	missense	probably benign	0.20
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

Posted On

2015-04-16