Mutagenetix > Incidental Mutation

Incidental Mutation 'R0064:Spata31'

34424

Institutional Source

Beutler Lab

Gene Symbol

Spata31

Ensembl Gene

ENSMUSG00000056223

Gene Name

spermatogenesis associated 31

Synonyms

4930458L03Rik, Fam75a, Spata31a

MMRRC Submission

038356-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.304) question?

Stock #

R0064 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64917406-64923194 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64922098 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 687 (Y687H)

Ref Sequence

ENSEMBL: ENSMUSP00000097025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070216] [ENSMUST00000221202]

AlphaFold

E9QAF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000070216
AA Change: Y687H

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097025
Gene: ENSMUSG00000056223
AA Change: Y687H

Domain	Start	End	E-Value	Type
low complexity region	35	45	N/A	INTRINSIC
low complexity region	91	106	N/A	INTRINSIC
Pfam:FAM75	149	431	1.7e-83	PFAM
Pfam:FAM75	426	462	4.5e-9	PFAM
low complexity region	478	491	N/A	INTRINSIC
low complexity region	544	555	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000221202

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	C	11: 110,144,871	L641R	probably damaging	Het
Abca9	G	T	11: 110,144,872	L641M	probably damaging	Het
Abhd18	A	G	3: 40,933,853	I377M	probably benign	Het
Arhgef17	C	A	7: 100,881,354	M1408I	probably benign	Het
Bcl2a1a	G	C	9: 88,957,463	G138A	probably damaging	Het
C4b	A	G	17: 34,738,856	L617P	probably damaging	Het
Ccdc25	T	A	14: 65,854,112	I60K	possibly damaging	Het
Cdk1	T	C	10: 69,345,077	D101G	probably benign	Het
Cdon	A	G	9: 35,489,227	H1079R	probably benign	Het
Cep126	A	T	9: 8,130,182		probably benign	Het
Cic	T	A	7: 25,287,140	S1299T	probably damaging	Het
Cic	C	A	7: 25,287,141	S1299Y	probably damaging	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Crlf3	A	G	11: 80,057,902	I239T	possibly damaging	Het
Cstf2t	T	A	19: 31,083,299	N78K	probably damaging	Het
Cul1	A	G	6: 47,502,415		probably benign	Het
D430041D05Rik	T	G	2: 104,249,157	T1194P	probably damaging	Het
Fbp2	A	T	13: 62,854,048	F118I	probably damaging	Het
Fbxw14	A	T	9: 109,287,592	Y16*	probably null	Het
Fgd3	T	G	13: 49,296,425	D116A	possibly damaging	Het
Gm7168	C	T	17: 13,949,859	T496I	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Klhl5	T	A	5: 65,141,288	S137T	probably benign	Het
Knl1	T	A	2: 119,076,243	N1604K	probably benign	Het
Lpcat1	T	A	13: 73,514,466	N463K	probably damaging	Het
Lpl	A	G	8: 68,892,704	H120R	probably damaging	Het
Man1a2	A	T	3: 100,591,883	S412T	possibly damaging	Het
Mcc	C	G	18: 44,519,516		probably benign	Het
Myo18a	G	T	11: 77,847,344	R1704L	probably damaging	Het
Nlrc3	G	T	16: 3,964,087	T486K	possibly damaging	Het
Nrip1	T	A	16: 76,294,670		probably benign	Het
Nutf2	A	G	8: 105,878,809	D92G	probably damaging	Het
Obscn	A	C	11: 59,027,466	V6260G	probably damaging	Het
Olfr320	G	A	11: 58,684,475	V201M	probably benign	Het
Olfr714	T	C	7: 107,074,280	F151L	probably benign	Het
Plce1	T	C	19: 38,780,784		probably null	Het
Pmpca	C	A	2: 26,395,507	D498E	probably benign	Het
Pnpla7	G	T	2: 24,997,227	E28*	probably null	Het
Polg	C	A	7: 79,461,884	W206C	probably damaging	Het
Ptprt	C	T	2: 161,927,791		probably benign	Het
Slc7a14	T	C	3: 31,227,060	D367G	probably damaging	Het
Sybu	T	A	15: 44,672,993	T646S	probably benign	Het
Thbs1	A	T	2: 118,123,914		probably null	Het
Tie1	A	G	4: 118,489,701	V2A	possibly damaging	Het
Tma16	A	T	8: 66,476,805	I179K	possibly damaging	Het
Tns3	G	A	11: 8,435,856	Q1381*	probably null	Het
Trank1	A	G	9: 111,343,195	D84G	probably damaging	Het
Ttc3	A	T	16: 94,422,247	H197L	possibly damaging	Het
Urb1	A	G	16: 90,779,140	F843L	probably benign	Het
Vmn1r24	T	G	6: 57,956,018	I172L	probably benign	Het
Vmn2r1	T	A	3: 64,104,788	I690N	possibly damaging	Het
Vmn2r111	T	A	17: 22,572,072	I82L	probably benign	Het
Zfp287	A	T	11: 62,714,938	L370H	possibly damaging	Het
Zfp608	A	T	18: 54,898,816	I684N	probably benign	Het

Other mutations in Spata31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00663:Spata31	APN	13	64922788	nonsense	probably null
IGL01143:Spata31	APN	13	64920816	nonsense	probably null
IGL01321:Spata31	APN	13	64921754	missense	probably benign	0.01
IGL01624:Spata31	APN	13	64921585	missense	probably damaging	1.00
IGL01844:Spata31	APN	13	64921154	missense	possibly damaging	0.49
IGL02259:Spata31	APN	13	64921483	missense	possibly damaging	0.90
IGL02358:Spata31	APN	13	64921218	missense	probably benign
IGL02377:Spata31	APN	13	64920380	missense	probably damaging	0.98
IGL02723:Spata31	APN	13	64920649	missense	probably benign	0.10
IGL03125:Spata31	APN	13	64920889	missense	probably benign	0.09
IGL03343:Spata31	APN	13	64919773	missense	probably benign	0.41
BB006:Spata31	UTSW	13	64921718	missense	probably benign	0.04
BB016:Spata31	UTSW	13	64921718	missense	probably benign	0.04
F5770:Spata31	UTSW	13	64921648	missense	probably benign	0.18
IGL02991:Spata31	UTSW	13	64920719	missense	probably benign	0.05
P0043:Spata31	UTSW	13	64921006	splice site	probably null
PIT4366001:Spata31	UTSW	13	64921505	nonsense	probably null
PIT4458001:Spata31	UTSW	13	64921850	missense	probably benign	0.01
PIT4687001:Spata31	UTSW	13	64921337	missense	probably benign	0.02
R0042:Spata31	UTSW	13	64922563	missense	probably benign	0.00
R0042:Spata31	UTSW	13	64922563	missense	probably benign	0.00
R0064:Spata31	UTSW	13	64922098	missense	probably damaging	0.98
R0639:Spata31	UTSW	13	64922213	missense	probably benign	0.02
R1253:Spata31	UTSW	13	64922024	missense	probably benign	0.23
R1536:Spata31	UTSW	13	64921382	missense	probably damaging	1.00
R1656:Spata31	UTSW	13	64921139	missense	probably benign
R1802:Spata31	UTSW	13	64922383	missense	probably benign	0.01
R1813:Spata31	UTSW	13	64921798	missense	probably benign	0.32
R1916:Spata31	UTSW	13	64922545	nonsense	probably null
R1917:Spata31	UTSW	13	64920865	missense	possibly damaging	0.92
R1933:Spata31	UTSW	13	64920610	missense	probably benign	0.02
R2910:Spata31	UTSW	13	64920436	missense	probably benign	0.12
R3750:Spata31	UTSW	13	64921743	missense	probably benign	0.01
R3876:Spata31	UTSW	13	64920931	missense	probably benign	0.03
R3980:Spata31	UTSW	13	64922654	missense	probably benign	0.24
R4056:Spata31	UTSW	13	64921655	missense	probably benign	0.00
R4300:Spata31	UTSW	13	64919761	missense	probably benign	0.08
R4797:Spata31	UTSW	13	64922742	nonsense	probably null
R4997:Spata31	UTSW	13	64919723	missense	probably benign	0.00
R5185:Spata31	UTSW	13	64917526	missense	possibly damaging	0.93
R5366:Spata31	UTSW	13	64920459	missense	probably damaging	0.98
R5539:Spata31	UTSW	13	64922969	missense	probably benign	0.00
R5704:Spata31	UTSW	13	64922041	missense	probably benign	0.32
R5748:Spata31	UTSW	13	64920313	makesense	probably null
R5834:Spata31	UTSW	13	64922666	missense	probably benign	0.19
R5926:Spata31	UTSW	13	64920725	missense	possibly damaging	0.82
R6476:Spata31	UTSW	13	64917642	missense	possibly damaging	0.68
R6603:Spata31	UTSW	13	64922665	missense	probably damaging	1.00
R6620:Spata31	UTSW	13	64919757	missense	possibly damaging	0.68
R6965:Spata31	UTSW	13	64922834	missense	possibly damaging	0.90
R7086:Spata31	UTSW	13	64922229	missense	probably benign	0.02
R7140:Spata31	UTSW	13	64921099	missense	probably benign
R7396:Spata31	UTSW	13	64920733	missense	probably benign
R7545:Spata31	UTSW	13	64922545	nonsense	probably null
R7575:Spata31	UTSW	13	64922912	missense	unknown
R7607:Spata31	UTSW	13	64921592	missense	probably damaging	1.00
R7929:Spata31	UTSW	13	64921718	missense	probably benign	0.04
R8024:Spata31	UTSW	13	64922804	missense	probably benign	0.12
R8088:Spata31	UTSW	13	64920865	missense	probably benign	0.31
R8323:Spata31	UTSW	13	64922251	missense	possibly damaging	0.61
R8362:Spata31	UTSW	13	64922230	missense	possibly damaging	0.58
R8870:Spata31	UTSW	13	64921004	missense	probably benign
R9429:Spata31	UTSW	13	64922522	missense	probably benign	0.43
R9465:Spata31	UTSW	13	64920713	missense	probably damaging	1.00
R9542:Spata31	UTSW	13	64922263	missense	probably damaging	0.96
R9627:Spata31	UTSW	13	64917595	missense	possibly damaging	0.95
V7580:Spata31	UTSW	13	64921648	missense	probably benign	0.18
V7581:Spata31	UTSW	13	64921648	missense	probably benign	0.18
V7583:Spata31	UTSW	13	64921648	missense	probably benign	0.18
Z1176:Spata31	UTSW	13	64921972	nonsense	probably null
Z1177:Spata31	UTSW	13	64921972	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCCAACCAAACCAGAGTGTGG -3'
(R):5'- GGACAATGGCTGCTGTAGGATTACC -3'

Sequencing Primer
(F):5'- CAAACCAGAGTGTGGGCATATTTC -3'
(R):5'- CCCTCACTTTGATAAGTAGGGGC -3'

Posted On

2013-05-09