Mutagenetix > Incidental Mutation

Incidental Mutation 'R6326:Spata2'

510384

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 #

R6326 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

167481133-167492887 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 167484174 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 242 (T242A)

Ref Sequence

ENSEMBL: ENSMUSP00000104834 (fasta)

Gene Model

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

AlphaFold

Q8K004

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057627
AA Change: T242A

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000057095
Gene: ENSMUSG00000047030
AA Change: T242A

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

possibly damaging
Transcript: ENSMUST00000109211
AA Change: T242A

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104834
Gene: ENSMUSG00000047030
AA Change: T242A

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

Meta Mutation Damage Score

0.0600

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032A03Rik	T	G	9: 50,764,757	N87T	probably damaging	Het
2810474O19Rik	T	A	6: 149,328,995	Y1180N	probably damaging	Het
Adamts17	A	T	7: 67,120,888	Y915F	probably benign	Het
Adap2	T	A	11: 80,155,022	F43I	probably damaging	Het
Adprhl2	A	T	4: 126,316,613	L358Q	possibly damaging	Het
AI314180	T	A	4: 58,827,068	T1022S	probably benign	Het
Akap9	A	C	5: 3,962,061	Q921H	probably damaging	Het
Amigo2	A	G	15: 97,245,375	S389P	probably benign	Het
Atg2b	A	T	12: 105,661,092	C545*	probably null	Het
C2cd3	A	G	7: 100,416,428	E807G	probably benign	Het
Ccdc110	A	G	8: 45,942,041	E323G	probably damaging	Het
Cdk5rap2	T	A	4: 70,235,454	S1711C	probably damaging	Het
Cebpzos	T	G	17: 78,919,057	D39E	probably damaging	Het
Cenpe	A	G	3: 135,239,778	N1018D	probably benign	Het
Clspn	C	A	4: 126,565,739	H141Q	probably damaging	Het
Cluh	C	T	11: 74,666,242	A1010V	probably benign	Het
Col27a1	G	T	4: 63,324,441		probably benign	Het
Cpt2	T	C	4: 107,914,316	M61V	probably benign	Het
Ddr2	T	A	1: 169,987,140	H578L	probably damaging	Het
Dnah14	T	A	1: 181,783,556	I3749N	probably damaging	Het
Dnajc18	T	C	18: 35,680,925	T264A	possibly damaging	Het
Eml6	T	C	11: 29,819,066	N693S	probably damaging	Het
Ephx4	A	G	5: 107,406,111	E9G	probably damaging	Het
Eps15l1	G	A	8: 72,341,434	Q747*	probably null	Het
Flrt1	C	T	19: 7,096,609	S191N	probably damaging	Het
Gm5114	C	T	7: 39,408,155	R680H	probably benign	Het
Gm5431	T	C	11: 48,889,345	H250R	probably damaging	Het
Gm7233	T	C	14: 43,182,885	C198R	possibly damaging	Het
Herc2	C	G	7: 56,222,934	Q4407E	probably damaging	Het
Hmx3	C	G	7: 131,543,005		probably benign	Het
Hoxb7	C	A	11: 96,287,083	A119E	probably benign	Het
Ifi207	A	T	1: 173,729,966	M402K	probably benign	Het
Ints14	T	C	9: 64,964,437	V19A	probably benign	Het
Itgae	T	A	11: 73,131,693	N911K	possibly damaging	Het
Kif1a	T	C	1: 93,076,326	S145G	probably damaging	Het
Klhdc4	A	G	8: 121,805,054	W187R	probably damaging	Het
Krt1	A	T	15: 101,850,249	I160N	probably damaging	Het
Krt12	T	C	11: 99,416,919	T448A	probably benign	Het
Lcmt2	G	A	2: 121,139,457	R382*	probably null	Het
Map3k8	C	T	18: 4,340,651	S221N	probably damaging	Het
Med17	T	C	9: 15,279,558	D79G	probably benign	Het
Mlf1	A	T	3: 67,399,727	I257F	probably damaging	Het
Mov10l1	T	A	15: 88,994,895	F153I	probably damaging	Het
Msto1	A	C	3: 88,912,098	V149G	probably damaging	Het
Mybl1	T	C	1: 9,678,507		probably null	Het
Myoc	A	G	1: 162,649,011	Y428C	probably damaging	Het
Nin	A	G	12: 70,045,181	S785P	possibly damaging	Het
Oit3	A	T	10: 59,428,239	F358I	probably damaging	Het
Olfr1095	C	T	2: 86,850,994	V235I	probably benign	Het
Olfr794	A	G	10: 129,570,702	T16A	possibly damaging	Het
Paip1	A	G	13: 119,430,217	N29S	probably benign	Het
Pcdhgb4	T	C	18: 37,722,456	S635P	probably benign	Het
Pcsk1	A	G	13: 75,132,179	N708D	possibly damaging	Het
Plch1	C	T	3: 63,781,390	W131*	probably null	Het
Prag1	A	T	8: 36,102,706	M148L	possibly damaging	Het
Ptch1	A	G	13: 63,543,545	L176P	probably damaging	Het
Ralgapa1	A	T	12: 55,747,146	V568D	probably damaging	Het
Rb1	A	T	14: 73,198,534	M897K	probably benign	Het
Robo3	T	A	9: 37,427,027	Q386L	probably damaging	Het
Rtn4rl1	T	C	11: 75,266,002	V420A	possibly damaging	Het
Sall1	A	T	8: 89,030,268	N1069K	probably benign	Het
Sipa1l1	A	G	12: 82,372,468	E640G	probably damaging	Het
Slc22a2	C	A	17: 12,612,410	Y362*	probably null	Het
Slc5a9	T	C	4: 111,880,253	E603G	probably benign	Het
Slc6a17	A	T	3: 107,500,406	I83N	probably damaging	Het
Snx29	G	T	16: 11,403,566	M285I	probably benign	Het
Stard13	A	G	5: 151,046,919	L733P	possibly damaging	Het
Svep1	A	G	4: 58,073,045	V2088A	possibly damaging	Het
Tdp2	A	G	13: 24,840,557	E279G	probably damaging	Het
Tnfrsf8	T	G	4: 145,269,224	I422L	probably damaging	Het
Tpk1	T	A	6: 43,346,802	T189S	possibly damaging	Het
Trhde	A	T	10: 114,567,224	M498K	probably damaging	Het
Trim35	T	A	14: 66,303,204	H168Q	possibly damaging	Het
Tubb5	T	C	17: 35,836,455		probably benign	Het
Vmn1r181	G	A	7: 23,984,758	R216Q	probably benign	Het
Vmn2r77	G	A	7: 86,801,823	G306R	probably benign	Het
Xkr4	C	T	1: 3,671,038	R104H	possibly damaging	Het
Zcchc11	C	T	4: 108,478,980	T6I	probably benign	Het
Zfp398	T	C	6: 47,866,421	I337T	possibly damaging	Het

Other mutations in Spata2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Spata2	APN	2	167484151	missense	probably damaging	1.00
IGL01565:Spata2	APN	2	167484294	missense	probably damaging	0.96
IGL02661:Spata2	APN	2	167483361	missense	probably damaging	1.00
R0402:Spata2	UTSW	2	167483660	missense	probably benign
R1023:Spata2	UTSW	2	167485222	missense	probably benign
R1672:Spata2	UTSW	2	167483519	missense	probably damaging	1.00
R1989:Spata2	UTSW	2	167484314	missense	possibly damaging	0.93
R2343:Spata2	UTSW	2	167483360	missense	probably damaging	1.00
R2422:Spata2	UTSW	2	167484206	missense	probably damaging	1.00
R5156:Spata2	UTSW	2	167483574	missense	probably damaging	0.96
R5476:Spata2	UTSW	2	167484159	missense	probably damaging	0.99
R7038:Spata2	UTSW	2	167485363	missense	possibly damaging	0.56
R7954:Spata2	UTSW	2	167483937	missense	probably benign	0.00
R8557:Spata2	UTSW	2	167484307	missense	probably damaging	1.00
R9459:Spata2	UTSW	2	167485285	missense	probably benign	0.35
X0024:Spata2	UTSW	2	167484446	missense	possibly damaging	0.62
Z1177:Spata2	UTSW	2	167483531	missense	probably damaging	1.00
Z1177:Spata2	UTSW	2	167483583	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGGTCATCAGGGCTACCATG -3'
(R):5'- TTTGAGCTCTTCCTGGCCAAG -3'

Sequencing Primer
(F):5'- AAGTCTTCCCCTACATCCA -3'
(R):5'- ATCCACTCGCAGGTGAAGGAC -3'

Posted On

2018-04-02