Mutagenetix > Incidental Mutation

Incidental Mutation 'R7954:Spata2'

649704

Institutional Source

Beutler Lab

Gene Symbol

Spata2

Ensembl Gene

ENSMUSG00000047030

Gene Name

spermatogenesis associated 2

Synonyms

MMRRC Submission

045998-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7954 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

167323053-167334804 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 167325857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 321 (T321A)

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: T321A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000057095
Gene: ENSMUSG00000047030
AA Change: T321A

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: T321A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000104834
Gene: ENSMUSG00000047030
AA Change: T321A

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: 99.6%
20x: 98.8%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 119,903,169 (GRCm39)	C409Y	possibly damaging	Het
Acsm2	C	T	7: 119,179,952 (GRCm39)	T390I	probably damaging	Het
Adam20	T	C	8: 41,249,581 (GRCm39)	Y564H	probably damaging	Het
Adcy6	A	G	15: 98,494,773 (GRCm39)		probably null	Het
Alms1	T	C	6: 85,598,144 (GRCm39)	V990A	probably damaging	Het
Anapc2	T	A	2: 25,164,712 (GRCm39)	V318E	probably damaging	Het
Ano6	G	T	15: 95,863,702 (GRCm39)	A741S	possibly damaging	Het
Apc	A	G	18: 34,447,321 (GRCm39)	S1406G	probably damaging	Het
Cemip2	T	A	19: 21,770,264 (GRCm39)	I84N	probably damaging	Het
Cfi	G	A	3: 129,662,234 (GRCm39)		probably null	Het
Clcn1	A	T	6: 42,263,625 (GRCm39)		probably benign	Het
Crygs	C	T	16: 22,624,082 (GRCm39)	R175H	probably damaging	Het
Dnmbp	A	T	19: 43,890,742 (GRCm39)	W342R	probably benign	Het
Dok5	T	A	2: 170,674,993 (GRCm39)		probably null	Het
Eno3	T	C	11: 70,552,006 (GRCm39)	I284T	probably benign	Het
Ep400	T	C	5: 110,816,599 (GRCm39)	T2767A	possibly damaging	Het
Epb41l4b	A	G	4: 57,088,034 (GRCm39)	V162A	probably damaging	Het
Fat3	A	G	9: 15,909,708 (GRCm39)	I2098T	probably damaging	Het
Fbxl13	T	C	5: 21,748,767 (GRCm39)	N384S	probably benign	Het
Fbxo9	A	G	9: 78,008,826 (GRCm39)	L78P	probably benign	Het
Glis1	G	A	4: 107,476,854 (GRCm39)	R525H	possibly damaging	Het
Gpr15	T	G	16: 58,539,047 (GRCm39)	D14A	probably benign	Het
Gpr156	T	C	16: 37,807,920 (GRCm39)	I189T	probably damaging	Het
H6pd	T	C	4: 150,067,283 (GRCm39)	I376V	probably benign	Het
Hs6st3	T	C	14: 120,106,522 (GRCm39)	V310A	probably damaging	Het
Htr1b	A	G	9: 81,513,998 (GRCm39)	L203P	probably damaging	Het
Kif26b	A	T	1: 178,696,944 (GRCm39)	I531F	probably damaging	Het
Krtcap3	T	C	5: 31,410,015 (GRCm39)	L166P	probably damaging	Het
Lmod1	A	C	1: 135,252,794 (GRCm39)	D16A	probably damaging	Het
Lrp2	T	G	2: 69,333,867 (GRCm39)	N1458T	possibly damaging	Het
Mocs1	G	A	17: 49,761,799 (GRCm39)	G631E	possibly damaging	Het
Nop14	G	A	5: 34,807,729 (GRCm39)	P411L	probably benign	Het
Nr2f1	A	C	13: 78,338,113 (GRCm39)	D334E	probably damaging	Het
Or5al7	A	G	2: 85,993,212 (GRCm39)	L27P	probably damaging	Het
Or5p51	T	C	7: 107,444,119 (GRCm39)	N274D	probably benign	Het
Paqr9	G	A	9: 95,442,681 (GRCm39)	V224M	probably damaging	Het
Pkd2l1	T	C	19: 44,142,651 (GRCm39)	T464A	probably benign	Het
Prss58	T	C	6: 40,872,543 (GRCm39)	R188G	possibly damaging	Het
Rapgef2	G	A	3: 78,977,454 (GRCm39)	R1150*	probably null	Het
Rgs22	A	C	15: 36,082,148 (GRCm39)	F653V	possibly damaging	Het
St3gal1	A	T	15: 66,984,422 (GRCm39)	F118I	probably damaging	Het
Styxl2	C	T	1: 165,926,849 (GRCm39)	S921N	probably benign	Het
Tasor	T	C	14: 27,169,481 (GRCm39)		probably null	Het
Tex35	C	T	1: 156,927,742 (GRCm39)	D143N	probably damaging	Het
Tll1	G	A	8: 64,571,568 (GRCm39)	T171I	probably damaging	Het
Umodl1	A	T	17: 31,205,361 (GRCm39)	Q652L	probably benign	Het
Usp54	A	G	14: 20,611,981 (GRCm39)	L945P	probably benign	Het
Vars1	A	G	17: 35,234,960 (GRCm39)	H1263R	probably benign	Het
Vmn1r202	A	T	13: 22,685,871 (GRCm39)	M182K	probably benign	Het
Vmn1r78	T	A	7: 11,887,227 (GRCm39)	C279*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- GTGTACAGAAGCCTTGCTGG -3'
(R):5'- CAAAGGCCTCACTGAGTCTG -3'

Sequencing Primer
(F):5'- AGGACAGGCCGCAGTTTTG -3'
(R):5'- TCACTGAGTCTGCGCAAG -3'

Posted On

2020-09-15