Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02661:Spata2'

302541

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spata2

Ensembl Gene

ENSMUSG00000047030

Gene Name

spermatogenesis associated 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02661

Quality Score

Status

Chromosome

Chromosomal Location

167323053-167334804 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 167325281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 513 (V513M)

Ref Sequence

ENSEMBL: ENSMUSP00000057095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057627] [ENSMUST00000109211]

AlphaFold

Q8K004

Predicted Effect

probably damaging
Transcript: ENSMUST00000057627
AA Change: V513M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057095
Gene: ENSMUSG00000047030
AA Change: V513M

Domain	Start	End	E-Value	Type
low complexity region	66	79	N/A	INTRINSIC
low complexity region	288	299	N/A	INTRINSIC
low complexity region	306	318	N/A	INTRINSIC
low complexity region	399	412	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109211

SMART Domains

Protein: ENSMUSP00000104834
Gene: ENSMUSG00000047030

Domain	Start	End	E-Value	Type
low complexity region	66	79	N/A	INTRINSIC
low complexity region	288	299	N/A	INTRINSIC
low complexity region	306	318	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126389

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147051

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154770

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155875

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous knockout leads to small testes, oligospermia, asthenozoospermia, reduced male fertility and decreased male germ cell numbers. It also affects necroptosis and increases inflammatory responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034E13Rik	G	T	18: 52,793,566 (GRCm39)	W33L	probably damaging	Het
Adam34	A	T	8: 44,104,572 (GRCm39)	C358S	probably damaging	Het
Ak5	C	A	3: 152,169,593 (GRCm39)	V561F	probably benign	Het
Ap1s1	T	C	5: 137,066,327 (GRCm39)	D158G	probably benign	Het
Bard1	A	G	1: 71,114,469 (GRCm39)	S171P	probably damaging	Het
Bsn	A	C	9: 107,984,135 (GRCm39)	Y534*	probably null	Het
Clcn4	A	T	7: 7,294,730 (GRCm39)		probably null	Het
Cyp2j7	T	C	4: 96,124,887 (GRCm39)	T4A	probably benign	Het
Dnajc10	T	A	2: 80,157,084 (GRCm39)		probably benign	Het
Dtl	G	T	1: 191,273,483 (GRCm39)	T475N	probably benign	Het
Eif3m	T	C	2: 104,835,314 (GRCm39)	Y120C	probably damaging	Het
Gab1	A	G	8: 81,515,566 (GRCm39)	S251P	probably damaging	Het
Gba1	T	A	3: 89,110,834 (GRCm39)	V14E	probably benign	Het
Ggcx	C	T	6: 72,395,343 (GRCm39)	P145S	possibly damaging	Het
Gm13889	G	A	2: 93,787,024 (GRCm39)	T150I	probably benign	Het
Gm4978	C	A	9: 69,358,180 (GRCm39)		probably benign	Het
Herc2	A	G	7: 55,762,821 (GRCm39)	D850G	probably damaging	Het
Hspa1l	A	G	17: 35,196,251 (GRCm39)	I97V	probably benign	Het
Ighv1-4	T	G	12: 114,450,850 (GRCm39)	K86T	probably damaging	Het
Ints4	C	A	7: 97,144,912 (GRCm39)	L175I	probably benign	Het
Kif13b	T	G	14: 65,005,140 (GRCm39)	V1144G	probably benign	Het
Kpna3	T	A	14: 61,610,398 (GRCm39)		probably benign	Het
Man2c1	A	G	9: 57,044,766 (GRCm39)	D371G	probably damaging	Het
Mtf1	T	C	4: 124,718,902 (GRCm39)	L305P	probably damaging	Het
Myo15b	T	G	11: 115,774,895 (GRCm39)	V2139G	probably benign	Het
Nalcn	T	C	14: 123,830,321 (GRCm39)		probably benign	Het
Neurod2	T	C	11: 98,218,405 (GRCm39)	Q253R	possibly damaging	Het
Nfkbil1	C	A	17: 35,439,647 (GRCm39)	A289S	probably benign	Het
Or4k35	T	A	2: 111,099,811 (GRCm39)	R300S	possibly damaging	Het
Paxbp1	A	T	16: 90,827,413 (GRCm39)	I474K	probably benign	Het
Pde6c	A	T	19: 38,169,248 (GRCm39)	I798F	probably damaging	Het
Pon3	T	A	6: 5,256,205 (GRCm39)	T8S	probably benign	Het
Prkdc	A	G	16: 15,587,689 (GRCm39)	T2525A	possibly damaging	Het
Rnase10	T	G	14: 51,247,273 (GRCm39)	V180G	probably damaging	Het
Rreb1	T	A	13: 38,114,778 (GRCm39)	C712*	probably null	Het
Scamp2	T	C	9: 57,494,697 (GRCm39)		probably benign	Het
Serpina3i	A	T	12: 104,231,515 (GRCm39)	K51*	probably null	Het
Smyd4	C	A	11: 75,281,767 (GRCm39)	C413*	probably null	Het
Sri	T	A	5: 8,113,252 (GRCm39)		probably benign	Het
Urah	A	T	7: 140,417,618 (GRCm39)	K119M	probably damaging	Het
Wdr19	C	T	5: 65,403,151 (GRCm39)	T1005I	probably benign	Het

Other mutations in Spata2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Spata2	APN	2	167,326,071 (GRCm39)	missense	probably damaging	1.00
IGL01565:Spata2	APN	2	167,326,214 (GRCm39)	missense	probably damaging	0.96
R0402:Spata2	UTSW	2	167,325,580 (GRCm39)	missense	probably benign
R1023:Spata2	UTSW	2	167,327,142 (GRCm39)	missense	probably benign
R1672:Spata2	UTSW	2	167,325,439 (GRCm39)	missense	probably damaging	1.00
R1989:Spata2	UTSW	2	167,326,234 (GRCm39)	missense	possibly damaging	0.93
R2343:Spata2	UTSW	2	167,325,280 (GRCm39)	missense	probably damaging	1.00
R2422:Spata2	UTSW	2	167,326,126 (GRCm39)	missense	probably damaging	1.00
R5156:Spata2	UTSW	2	167,325,494 (GRCm39)	missense	probably damaging	0.96
R5476:Spata2	UTSW	2	167,326,079 (GRCm39)	missense	probably damaging	0.99
R6326:Spata2	UTSW	2	167,326,094 (GRCm39)	missense	possibly damaging	0.47
R7038:Spata2	UTSW	2	167,327,283 (GRCm39)	missense	possibly damaging	0.56
R7954:Spata2	UTSW	2	167,325,857 (GRCm39)	missense	probably benign	0.00
R8557:Spata2	UTSW	2	167,326,227 (GRCm39)	missense	probably damaging	1.00
R9459:Spata2	UTSW	2	167,327,205 (GRCm39)	missense	probably benign	0.35
X0024:Spata2	UTSW	2	167,326,366 (GRCm39)	missense	possibly damaging	0.62
Z1177:Spata2	UTSW	2	167,325,503 (GRCm39)	missense	probably benign	0.01
Z1177:Spata2	UTSW	2	167,325,451 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16