Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02723:Spata31'

305039

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spata31

Ensembl Gene

ENSMUSG00000056223

Gene Name

spermatogenesis associated 31

Synonyms

Fam75a, Spata31a, 4930458L03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

IGL02723

Quality Score

Status

Chromosome

Chromosomal Location

65065220-65071008 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65068463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 204 (S204P)

Ref Sequence

ENSEMBL: ENSMUSP00000097025 (fasta)

Gene Model

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

AlphaFold

E9QAF0

Predicted Effect

probably benign
Transcript: ENSMUST00000070216
AA Change: S204P

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097025
Gene: ENSMUSG00000056223
AA Change: S204P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Capn9	A	T	8: 125,335,922 (GRCm39)		probably benign	Het
Cchcr1	A	C	17: 35,841,699 (GRCm39)	K761Q	probably benign	Het
Cfap20dc	T	C	14: 8,516,507 (GRCm38)	N347S	probably benign	Het
Csk	G	T	9: 57,538,672 (GRCm39)		probably benign	Het
Cyp2j7	T	C	4: 96,118,366 (GRCm39)	K76E	probably benign	Het
Dpep1	G	A	8: 123,920,888 (GRCm39)	A23T	possibly damaging	Het
Dpp8	T	A	9: 64,949,549 (GRCm39)	M98K	possibly damaging	Het
Dspp	C	A	5: 104,323,041 (GRCm39)	N61K	probably benign	Het
Eno2	T	C	6: 124,738,626 (GRCm39)	Y364C	probably damaging	Het
Gfra1	A	G	19: 58,441,683 (GRCm39)	S83P	probably benign	Het
Gramd1b	T	C	9: 40,218,127 (GRCm39)	E563G	probably damaging	Het
Kcns2	G	T	15: 34,838,961 (GRCm39)	W108L	probably damaging	Het
Mroh4	T	C	15: 74,480,086 (GRCm39)		probably benign	Het
Obscn	A	T	11: 59,015,446 (GRCm39)	S1009T	probably benign	Het
Or2y11	A	G	11: 49,443,506 (GRCm39)	R311G	probably benign	Het
Or5b119	A	G	19: 13,456,699 (GRCm39)	Y288H	probably damaging	Het
Or7g32	T	C	9: 19,388,805 (GRCm39)	H244R	probably damaging	Het
Or8b41	A	G	9: 38,054,707 (GRCm39)	K92R	probably benign	Het
Plcb2	G	A	2: 118,547,500 (GRCm39)		probably benign	Het
Rpl13a-ps1	T	A	19: 50,019,111 (GRCm39)	I22F	possibly damaging	Het
Skil	A	G	3: 31,171,673 (GRCm39)	E599G	probably damaging	Het
Snx19	A	G	9: 30,343,556 (GRCm39)	N572S	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tenm3	A	T	8: 48,729,938 (GRCm39)	V1356E	probably benign	Het
Trpc3	T	A	3: 36,704,377 (GRCm39)	I527F	probably benign	Het
Vmn2r69	A	G	7: 85,059,416 (GRCm39)	W498R	probably damaging	Het
Vwde	T	A	6: 13,205,759 (GRCm39)	I263L	probably damaging	Het
Vwf	G	T	6: 125,619,893 (GRCm39)	V1524L	possibly damaging	Het
Wdr55	A	G	18: 36,896,435 (GRCm39)	E375G	probably benign	Het

Other mutations in Spata31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00663:Spata31	APN	13	65,070,602 (GRCm39)	nonsense	probably null
IGL01143:Spata31	APN	13	65,068,630 (GRCm39)	nonsense	probably null
IGL01321:Spata31	APN	13	65,069,568 (GRCm39)	missense	probably benign	0.01
IGL01624:Spata31	APN	13	65,069,399 (GRCm39)	missense	probably damaging	1.00
IGL01844:Spata31	APN	13	65,068,968 (GRCm39)	missense	possibly damaging	0.49
IGL02259:Spata31	APN	13	65,069,297 (GRCm39)	missense	possibly damaging	0.90
IGL02358:Spata31	APN	13	65,069,032 (GRCm39)	missense	probably benign
IGL02377:Spata31	APN	13	65,068,194 (GRCm39)	missense	probably damaging	0.98
IGL03125:Spata31	APN	13	65,068,703 (GRCm39)	missense	probably benign	0.09
IGL03343:Spata31	APN	13	65,067,587 (GRCm39)	missense	probably benign	0.41
BB006:Spata31	UTSW	13	65,069,532 (GRCm39)	missense	probably benign	0.04
BB016:Spata31	UTSW	13	65,069,532 (GRCm39)	missense	probably benign	0.04
F5770:Spata31	UTSW	13	65,069,462 (GRCm39)	missense	probably benign	0.18
IGL02991:Spata31	UTSW	13	65,068,533 (GRCm39)	missense	probably benign	0.05
P0043:Spata31	UTSW	13	65,068,820 (GRCm39)	splice site	probably null
PIT4366001:Spata31	UTSW	13	65,069,319 (GRCm39)	nonsense	probably null
PIT4458001:Spata31	UTSW	13	65,069,664 (GRCm39)	missense	probably benign	0.01
PIT4687001:Spata31	UTSW	13	65,069,151 (GRCm39)	missense	probably benign	0.02
R0042:Spata31	UTSW	13	65,070,377 (GRCm39)	missense	probably benign	0.00
R0042:Spata31	UTSW	13	65,070,377 (GRCm39)	missense	probably benign	0.00
R0064:Spata31	UTSW	13	65,069,912 (GRCm39)	missense	probably damaging	0.98
R0064:Spata31	UTSW	13	65,069,912 (GRCm39)	missense	probably damaging	0.98
R0639:Spata31	UTSW	13	65,070,027 (GRCm39)	missense	probably benign	0.02
R1253:Spata31	UTSW	13	65,069,838 (GRCm39)	missense	probably benign	0.23
R1536:Spata31	UTSW	13	65,069,196 (GRCm39)	missense	probably damaging	1.00
R1656:Spata31	UTSW	13	65,068,953 (GRCm39)	missense	probably benign
R1802:Spata31	UTSW	13	65,070,197 (GRCm39)	missense	probably benign	0.01
R1813:Spata31	UTSW	13	65,069,612 (GRCm39)	missense	probably benign	0.32
R1916:Spata31	UTSW	13	65,070,359 (GRCm39)	nonsense	probably null
R1917:Spata31	UTSW	13	65,068,679 (GRCm39)	missense	possibly damaging	0.92
R1933:Spata31	UTSW	13	65,068,424 (GRCm39)	missense	probably benign	0.02
R2910:Spata31	UTSW	13	65,068,250 (GRCm39)	missense	probably benign	0.12
R3750:Spata31	UTSW	13	65,069,557 (GRCm39)	missense	probably benign	0.01
R3876:Spata31	UTSW	13	65,068,745 (GRCm39)	missense	probably benign	0.03
R3980:Spata31	UTSW	13	65,070,468 (GRCm39)	missense	probably benign	0.24
R4056:Spata31	UTSW	13	65,069,469 (GRCm39)	missense	probably benign	0.00
R4300:Spata31	UTSW	13	65,067,575 (GRCm39)	missense	probably benign	0.08
R4797:Spata31	UTSW	13	65,070,556 (GRCm39)	nonsense	probably null
R4997:Spata31	UTSW	13	65,067,537 (GRCm39)	missense	probably benign	0.00
R5185:Spata31	UTSW	13	65,065,340 (GRCm39)	missense	possibly damaging	0.93
R5366:Spata31	UTSW	13	65,068,273 (GRCm39)	missense	probably damaging	0.98
R5539:Spata31	UTSW	13	65,070,783 (GRCm39)	missense	probably benign	0.00
R5704:Spata31	UTSW	13	65,069,855 (GRCm39)	missense	probably benign	0.32
R5748:Spata31	UTSW	13	65,068,127 (GRCm39)	makesense	probably null
R5834:Spata31	UTSW	13	65,070,480 (GRCm39)	missense	probably benign	0.19
R5926:Spata31	UTSW	13	65,068,539 (GRCm39)	missense	possibly damaging	0.82
R6476:Spata31	UTSW	13	65,065,456 (GRCm39)	missense	possibly damaging	0.68
R6603:Spata31	UTSW	13	65,070,479 (GRCm39)	missense	probably damaging	1.00
R6620:Spata31	UTSW	13	65,067,571 (GRCm39)	missense	possibly damaging	0.68
R6965:Spata31	UTSW	13	65,070,648 (GRCm39)	missense	possibly damaging	0.90
R7086:Spata31	UTSW	13	65,070,043 (GRCm39)	missense	probably benign	0.02
R7140:Spata31	UTSW	13	65,068,913 (GRCm39)	missense	probably benign
R7396:Spata31	UTSW	13	65,068,547 (GRCm39)	missense	probably benign
R7545:Spata31	UTSW	13	65,070,359 (GRCm39)	nonsense	probably null
R7575:Spata31	UTSW	13	65,070,726 (GRCm39)	missense	unknown
R7607:Spata31	UTSW	13	65,069,406 (GRCm39)	missense	probably damaging	1.00
R7929:Spata31	UTSW	13	65,069,532 (GRCm39)	missense	probably benign	0.04
R8024:Spata31	UTSW	13	65,070,618 (GRCm39)	missense	probably benign	0.12
R8088:Spata31	UTSW	13	65,068,679 (GRCm39)	missense	probably benign	0.31
R8323:Spata31	UTSW	13	65,070,065 (GRCm39)	missense	possibly damaging	0.61
R8362:Spata31	UTSW	13	65,070,044 (GRCm39)	missense	possibly damaging	0.58
R8870:Spata31	UTSW	13	65,068,818 (GRCm39)	missense	probably benign
R9429:Spata31	UTSW	13	65,070,336 (GRCm39)	missense	probably benign	0.43
R9465:Spata31	UTSW	13	65,068,527 (GRCm39)	missense	probably damaging	1.00
R9542:Spata31	UTSW	13	65,070,077 (GRCm39)	missense	probably damaging	0.96
R9627:Spata31	UTSW	13	65,065,409 (GRCm39)	missense	possibly damaging	0.95
V7580:Spata31	UTSW	13	65,069,462 (GRCm39)	missense	probably benign	0.18
V7581:Spata31	UTSW	13	65,069,462 (GRCm39)	missense	probably benign	0.18
V7583:Spata31	UTSW	13	65,069,462 (GRCm39)	missense	probably benign	0.18
Z1176:Spata31	UTSW	13	65,069,786 (GRCm39)	nonsense	probably null
Z1177:Spata31	UTSW	13	65,069,786 (GRCm39)	nonsense	probably null

Posted On

2015-04-16