Mutagenetix > Incidental Mutation

Incidental Mutation 'R6757:Spata31e5'

531080

Institutional Source

Beutler Lab

Gene Symbol

Spata31e5

Ensembl Gene

ENSMUSG00000048411

Gene Name

spermatogenesis associated 31 subfamily E member 5

Synonyms

Gm597, LOC210962

MMRRC Submission

044873-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R6757 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28815203-28819333 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 28819191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 30 (I30S)

Ref Sequence

ENSEMBL: ENSMUSP00000058140 (fasta)

Gene Model

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

AlphaFold

E9Q8J5

Predicted Effect

probably damaging
Transcript: ENSMUST00000059937
AA Change: I30S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: I30S

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: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,666,558 (GRCm39)	*288Y	probably null	Het
Art2a	G	T	7: 101,204,221 (GRCm39)	L106I	probably benign	Het
Bmi1	C	T	2: 18,688,840 (GRCm39)	T203M	probably damaging	Het
Cpm	A	G	10: 117,507,543 (GRCm39)	D220G	probably damaging	Het
Cyp2a22	A	C	7: 26,638,629 (GRCm39)	D52E	probably benign	Het
Dag1	A	C	9: 108,095,216 (GRCm39)	I92S	probably damaging	Het
Dntt	A	T	19: 41,025,601 (GRCm39)	H73L	probably damaging	Het
Epha5	A	C	5: 84,253,737 (GRCm39)	I716S	probably damaging	Het
Fpr-rs4	C	T	17: 18,242,394 (GRCm39)	Q134*	probably null	Het
Fzd8	T	A	18: 9,213,238 (GRCm39)	C107S	possibly damaging	Het
Garre1	G	A	7: 33,938,502 (GRCm39)	A799V	possibly damaging	Het
Gnptab	T	C	10: 88,273,364 (GRCm39)	L1047P	probably damaging	Het
Gstt1	A	T	10: 75,634,217 (GRCm39)		probably null	Het
Kdm2a	T	C	19: 4,369,271 (GRCm39)	R1115G	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Myo1b	C	T	1: 51,852,207 (GRCm39)	E179K	probably damaging	Het
Nrp1	T	A	8: 129,152,349 (GRCm39)	I186N	probably damaging	Het
Or10g3	A	G	14: 52,610,172 (GRCm39)	C113R	probably damaging	Het
Pole	T	C	5: 110,451,476 (GRCm39)	V835A	probably damaging	Het
Shprh	A	G	10: 11,057,252 (GRCm39)		probably null	Het
Slc39a14	A	T	14: 70,548,333 (GRCm39)	L238Q	probably damaging	Het
Usp40	A	T	1: 87,907,759 (GRCm39)	I619N	probably damaging	Het

Other mutations in Spata31e5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Spata31e5	APN	1	28,817,732 (GRCm39)	missense	possibly damaging	0.94
IGL00885:Spata31e5	APN	1	28,815,926 (GRCm39)	missense	unknown
IGL01296:Spata31e5	APN	1	28,816,137 (GRCm39)	missense	probably benign	0.23
IGL01476:Spata31e5	APN	1	28,816,534 (GRCm39)	missense	probably benign	0.04
IGL02125:Spata31e5	APN	1	28,815,419 (GRCm39)	missense	possibly damaging	0.91
IGL02410:Spata31e5	APN	1	28,817,712 (GRCm39)	missense	probably benign	0.25
IGL02982:Spata31e5	APN	1	28,817,135 (GRCm39)	missense	probably damaging	1.00
IGL03031:Spata31e5	APN	1	28,817,664 (GRCm39)	missense	probably benign	0.03
IGL03267:Spata31e5	APN	1	28,816,202 (GRCm39)	missense	probably damaging	1.00
R0294:Spata31e5	UTSW	1	28,817,744 (GRCm39)	missense	probably benign	0.00
R0433:Spata31e5	UTSW	1	28,816,423 (GRCm39)	nonsense	probably null
R0485:Spata31e5	UTSW	1	28,817,223 (GRCm39)	missense	probably damaging	1.00
R0645:Spata31e5	UTSW	1	28,816,011 (GRCm39)	missense	probably damaging	0.99
R0744:Spata31e5	UTSW	1	28,816,902 (GRCm39)	missense	possibly damaging	0.46
R0836:Spata31e5	UTSW	1	28,816,902 (GRCm39)	missense	possibly damaging	0.46
R1036:Spata31e5	UTSW	1	28,816,883 (GRCm39)	missense	probably benign	0.01
R1302:Spata31e5	UTSW	1	28,815,421 (GRCm39)	missense	probably benign	0.00
R1394:Spata31e5	UTSW	1	28,815,890 (GRCm39)	missense	possibly damaging	0.61
R1395:Spata31e5	UTSW	1	28,815,890 (GRCm39)	missense	possibly damaging	0.61
R1514:Spata31e5	UTSW	1	28,817,829 (GRCm39)	missense	possibly damaging	0.83
R1535:Spata31e5	UTSW	1	28,816,505 (GRCm39)	missense	probably damaging	1.00
R2004:Spata31e5	UTSW	1	28,816,260 (GRCm39)	missense	probably damaging	1.00
R2021:Spata31e5	UTSW	1	28,817,234 (GRCm39)	missense	probably damaging	0.98
R2022:Spata31e5	UTSW	1	28,817,234 (GRCm39)	missense	probably damaging	0.98
R3115:Spata31e5	UTSW	1	28,815,410 (GRCm39)	missense	possibly damaging	0.92
R3615:Spata31e5	UTSW	1	28,815,656 (GRCm39)	missense	probably benign	0.26
R3616:Spata31e5	UTSW	1	28,815,656 (GRCm39)	missense	probably benign	0.26
R3862:Spata31e5	UTSW	1	28,816,722 (GRCm39)	missense	probably damaging	0.98
R4067:Spata31e5	UTSW	1	28,816,712 (GRCm39)	missense	probably damaging	0.98
R4119:Spata31e5	UTSW	1	28,817,054 (GRCm39)	missense	probably damaging	0.99
R4415:Spata31e5	UTSW	1	28,816,214 (GRCm39)	missense	probably benign	0.01
R5010:Spata31e5	UTSW	1	28,816,943 (GRCm39)	missense	possibly damaging	0.52
R5109:Spata31e5	UTSW	1	28,816,636 (GRCm39)	missense	possibly damaging	0.46
R5122:Spata31e5	UTSW	1	28,819,141 (GRCm39)	missense	probably benign	0.00
R5533:Spata31e5	UTSW	1	28,817,163 (GRCm39)	missense	probably damaging	1.00
R6085:Spata31e5	UTSW	1	28,817,308 (GRCm39)	missense	possibly damaging	0.55
R6116:Spata31e5	UTSW	1	28,817,780 (GRCm39)	missense	probably benign	0.01
R6750:Spata31e5	UTSW	1	28,816,495 (GRCm39)	missense	probably damaging	0.98
R6774:Spata31e5	UTSW	1	28,815,974 (GRCm39)	missense	probably benign	0.00
R7156:Spata31e5	UTSW	1	28,815,848 (GRCm39)	missense	possibly damaging	0.53
R7365:Spata31e5	UTSW	1	28,819,233 (GRCm39)	missense	probably benign	0.04
R7739:Spata31e5	UTSW	1	28,816,689 (GRCm39)	missense	possibly damaging	0.72
R7996:Spata31e5	UTSW	1	28,817,487 (GRCm39)	missense	probably damaging	0.98
R8082:Spata31e5	UTSW	1	28,816,579 (GRCm39)	missense	probably benign	0.08
R8281:Spata31e5	UTSW	1	28,817,225 (GRCm39)	missense	possibly damaging	0.77
R8514:Spata31e5	UTSW	1	28,817,586 (GRCm39)	missense	probably damaging	1.00
R8944:Spata31e5	UTSW	1	28,816,155 (GRCm39)	missense	probably benign	0.00
R9042:Spata31e5	UTSW	1	28,816,037 (GRCm39)	missense	possibly damaging	0.72
R9101:Spata31e5	UTSW	1	28,815,740 (GRCm39)	missense	probably benign	0.04
R9106:Spata31e5	UTSW	1	28,815,975 (GRCm39)	missense	probably benign	0.00
R9173:Spata31e5	UTSW	1	28,816,430 (GRCm39)	missense	probably benign	0.22
R9596:Spata31e5	UTSW	1	28,815,688 (GRCm39)	missense	probably benign	0.07
R9632:Spata31e5	UTSW	1	28,817,120 (GRCm39)	missense	probably benign	0.20
R9656:Spata31e5	UTSW	1	28,816,536 (GRCm39)	missense	probably benign	0.02
R9659:Spata31e5	UTSW	1	28,816,536 (GRCm39)	missense	probably benign	0.02
R9661:Spata31e5	UTSW	1	28,816,536 (GRCm39)	missense	probably benign	0.02
R9663:Spata31e5	UTSW	1	28,816,536 (GRCm39)	missense	probably benign	0.02
R9710:Spata31e5	UTSW	1	28,817,120 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- CTTCTAGAGATTTCTGTTCATGTGTC -3'
(R):5'- CCTGAGGCCTCCTGAAAGGT -3'

Sequencing Primer
(F):5'- AACATGCCCCTGAGAGAGCTTG -3'
(R):5'- GTCAGATCTGTACTCCAGGACTCAG -3'

Posted On

2018-08-01