Mutagenetix > Incidental Mutation

Incidental Mutation 'R9459:Spata2'

714744

Institutional Source

Beutler Lab

Gene Symbol

Spata2

Ensembl Gene

ENSMUSG00000047030

Gene Name

spermatogenesis associated 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9459 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

167323053-167334804 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 167327205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 64 (V64A)

Ref Sequence

ENSEMBL: ENSMUSP00000057095 (fasta)

Gene Model

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

AlphaFold

Q8K004

Predicted Effect

probably benign
Transcript: ENSMUST00000057627
AA Change: V64A

PolyPhen 2 Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000057095
Gene: ENSMUSG00000047030
AA Change: V64A

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
AA Change: V64A

PolyPhen 2 Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104834
Gene: ENSMUSG00000047030
AA Change: V64A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,735,414 (GRCm39)		probably null	Het
Alms1	T	A	6: 85,604,946 (GRCm39)	C2199S	probably damaging	Het
Aox3	A	G	1: 58,189,468 (GRCm39)	I390V	probably benign	Het
Ap3b2	T	C	7: 81,123,651 (GRCm39)	N400S	probably benign	Het
Baalc	A	T	15: 38,797,419 (GRCm39)	N70I	probably benign	Het
Brca2	T	A	5: 150,464,094 (GRCm39)	V1286D	probably damaging	Het
Ccdc30	T	C	4: 119,234,470 (GRCm39)	R81G	possibly damaging	Het
Cd209g	T	C	8: 4,185,610 (GRCm39)	S15P	probably benign	Het
Chrnb3	G	A	8: 27,883,884 (GRCm39)	W207*	probably null	Het
Cmpk2	C	T	12: 26,528,022 (GRCm39)	T413M	probably damaging	Het
Coq4	T	A	2: 29,678,562 (GRCm39)	Y63N	probably damaging	Het
Depdc5	T	A	5: 33,148,117 (GRCm39)	S1478T	probably damaging	Het
Etf1	A	G	18: 35,039,134 (GRCm39)	F378L	probably benign	Het
Exoc6	T	C	19: 37,574,341 (GRCm39)	V324A	probably benign	Het
Frem2	A	G	3: 53,560,907 (GRCm39)	L1200P	probably benign	Het
Gadl1	T	C	9: 115,794,679 (GRCm39)	W285R	probably damaging	Het
Gbp3	A	G	3: 142,270,707 (GRCm39)		probably null	Het
Gm14295	C	T	2: 176,499,165 (GRCm39)	T5I	possibly damaging	Het
Hps4	T	C	5: 112,522,875 (GRCm39)	S578P	probably benign	Het
Kctd13	T	A	7: 126,544,254 (GRCm39)	D317E	probably damaging	Het
Kdm4b	T	A	17: 56,706,509 (GRCm39)	D881E	probably benign	Het
Klf10	G	A	15: 38,296,171 (GRCm39)	P473L	probably damaging	Het
Lrch3	A	T	16: 32,799,775 (GRCm39)	D371V	probably damaging	Het
Msh2	T	C	17: 87,985,758 (GRCm39)	S112P	possibly damaging	Het
Msh3	A	G	13: 92,352,047 (GRCm39)	V1036A	possibly damaging	Het
Mybl1	A	G	1: 9,746,484 (GRCm39)	V392A	possibly damaging	Het
Myo7a	T	C	7: 97,722,380 (GRCm39)	I1182V	possibly damaging	Het
Nectin1	A	C	9: 43,715,090 (GRCm39)	E442A	probably benign	Het
Nscme3l	T	A	19: 5,553,757 (GRCm39)	H8L	probably benign	Het
Obsl1	G	T	1: 75,474,884 (GRCm39)	H839N	probably benign	Het
Or4c105	T	C	2: 88,647,967 (GRCm39)	F151L	probably benign	Het
Or9i1b	T	C	19: 13,896,674 (GRCm39)	C97R	possibly damaging	Het
Pacs1	C	T	19: 5,195,098 (GRCm39)		probably null	Het
Pcdh17	G	T	14: 84,686,063 (GRCm39)	E843D	probably benign	Het
Pcnt	A	G	10: 76,228,572 (GRCm39)	L1531P	probably damaging	Het
Pdgfra	A	G	5: 75,353,129 (GRCm39)	D973G	probably damaging	Het
Pkd2	A	G	5: 104,614,800 (GRCm39)	Y214C	probably damaging	Het
Plcb1	T	C	2: 135,164,558 (GRCm39)	Y427H	probably benign	Het
Ppm1h	A	G	10: 122,743,482 (GRCm39)	N402S	possibly damaging	Het
Rassf4	T	A	6: 116,618,749 (GRCm39)		probably null	Het
Ryr1	G	A	7: 28,768,068 (GRCm39)	T2856I	probably damaging	Het
Serpinb8	A	T	1: 107,533,520 (GRCm39)	K192*	probably null	Het
Slfn14	T	G	11: 83,170,198 (GRCm39)	Q482P	possibly damaging	Het
Tax1bp1	T	G	6: 52,706,314 (GRCm39)	V105G	probably damaging	Het
Tbc1d22a	T	G	15: 86,120,021 (GRCm39)	S142A	possibly damaging	Het
Tdrd9	T	C	12: 111,992,007 (GRCm39)	F594S	probably damaging	Het
Uba3	T	C	6: 97,166,559 (GRCm39)	I281V	probably benign	Het
Uggt2	T	C	14: 119,286,595 (GRCm39)	E723G	probably benign	Het
Usp20	C	T	2: 30,901,024 (GRCm39)	S391F	probably damaging	Het
Usp24	T	A	4: 106,199,555 (GRCm39)	D166E	probably damaging	Het
Vmn1r1	A	G	1: 181,985,503 (GRCm39)	V54A	probably benign	Het
Zfp442	T	A	2: 150,250,668 (GRCm39)	E411D	unknown	Het
Zfp804a	T	C	2: 82,089,753 (GRCm39)	I1194T	probably damaging	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
IGL02661:Spata2	APN	2	167,325,281 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GAATCTTCTCTCAAGCCCCAGC -3'
(R):5'- TGACTTATTCCGGAAGTACGTGC -3'

Sequencing Primer
(F):5'- CCTCAACTGGGACTCTGGTC -3'
(R):5'- TATTCCGGAAGTACGTGCAGTTCC -3'

Posted On

2022-06-15