Mutagenetix > Incidental Mutations

Incidental Mutation 'R4430:Spata4'

328568

Institutional Source

Beutler Lab

Gene Symbol

Spata4

Ensembl Gene

ENSMUSG00000031518

Gene Name

spermatogenesis associated 4

Synonyms

1700001N01Rik, SRG2, TSARG2

MMRRC Submission

041700-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R4430 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54600781-54610098 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54601843 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 86 (I86T)

Ref Sequence

ENSEMBL: ENSMUSP00000033917 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033917]

Predicted Effect

probably benign
Transcript: ENSMUST00000033917
AA Change: I86T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000033917
Gene: ENSMUSG00000031518
AA Change: I86T

Domain	Start	End	E-Value	Type
low complexity region	24	37	N/A	INTRINSIC
Pfam:CH_2	54	149	1.1e-37	PFAM
Pfam:CAMSAP_CH	56	136	2.9e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162770

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,839		probably benign	Het
Aak1	A	G	6: 86,986,366	N926S	unknown	Het
Ahi1	T	A	10: 20,972,078	C462S	probably damaging	Het
Ahnak	A	G	19: 9,003,040	I563V	probably benign	Het
Ankrd55	G	A	13: 112,323,183		probably null	Het
Bag3	A	G	7: 128,523,923	D22G	probably damaging	Het
Cldn8	A	C	16: 88,562,731	M102R	probably damaging	Het
Col15a1	T	C	4: 47,245,705	F152S	probably damaging	Het
Cxcr2	T	C	1: 74,158,845	I166T	probably benign	Het
Dnah11	T	C	12: 117,983,011	I3113V	probably benign	Het
Gli2	T	C	1: 118,837,244	H1059R	probably benign	Het
Gm14412	C	A	2: 177,315,832	S90I	probably benign	Het
L1td1	A	G	4: 98,737,151	R528G	probably benign	Het
Mcm3	A	T	1: 20,811,993	L449*	probably null	Het
Mif4gd	T	C	11: 115,608,502	T185A	probably benign	Het
Mphosph9	T	C	5: 124,265,446	S840G	possibly damaging	Het
Nim1k	C	A	13: 119,712,542	R272L	possibly damaging	Het
Olfr1079	A	G	2: 86,538,387	I176T	probably damaging	Het
Olfr1457	C	T	19: 13,095,088	V187I	probably benign	Het
Olfr806	T	A	10: 129,738,261	I219F	probably damaging	Het
Pax3	A	G	1: 78,195,324	V83A	probably damaging	Het
Pde3b	C	T	7: 114,534,670	P974S	probably damaging	Het
Pdzd3	C	T	9: 44,249,744	S175N	probably benign	Het
Pglyrp3	T	A	3: 92,031,491	D324E	probably damaging	Het
Pus7	A	G	5: 23,746,489	Y521H	probably benign	Het
Ryr2	A	G	13: 11,735,527	S1953P	probably damaging	Het
Sost	G	A	11: 101,966,844	P44S	probably damaging	Het
Sox5	A	G	6: 144,041,274	I188T	possibly damaging	Het
Ssc5d	T	C	7: 4,943,664	S1006P	probably benign	Het
Stk10	T	C	11: 32,533,552	V50A	possibly damaging	Het
Sytl4	A	G,T	X: 133,949,223	S338R	probably damaging	Homo
Sytl5	A	T	X: 9,960,023	N412Y	probably damaging	Het
Tert	T	A	13: 73,627,475	F115Y	probably damaging	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tmem201	A	C	4: 149,731,139	V118G	probably benign	Het
Tmem67	T	A	4: 12,051,473	N785I	possibly damaging	Het
Trhde	A	T	10: 114,503,123	L594Q	probably damaging	Het
Ugt2b37	T	C	5: 87,254,092	M227V	probably benign	Het
Vmn2r22	T	C	6: 123,637,858	T258A	possibly damaging	Het
Vmn2r73	A	T	7: 85,870,241	M503K	probably benign	Het
Zfp54	T	G	17: 21,434,960	V572G	probably damaging	Het

Other mutations in Spata4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01486:Spata4	APN	8	54602306	splice site	probably benign
IGL02418:Spata4	APN	8	54609943	missense	probably benign	0.00
IGL02685:Spata4	APN	8	54600928	missense	probably benign	0.02
IGL03172:Spata4	APN	8	54602405	missense	probably benign	0.00
R0885:Spata4	UTSW	8	54600844	missense	probably damaging	0.98
R2237:Spata4	UTSW	8	54602629	missense	probably benign	0.06
R2238:Spata4	UTSW	8	54602629	missense	probably benign	0.06
R2239:Spata4	UTSW	8	54602629	missense	probably benign	0.06
R4915:Spata4	UTSW	8	54602436	splice site	probably null
R6508:Spata4	UTSW	8	54600852	missense	probably benign
R6809:Spata4	UTSW	8	54602333	missense	possibly damaging	0.82
R7148:Spata4	UTSW	8	54602550	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- GGAGGATTCATTAAAGGACACTTTAGC -3'
(R):5'- GCCTTACAGTGAATTGTTCCATG -3'

Sequencing Primer
(F):5'- AAAGGACACTTTAGCTAACTGCTTTC -3'
(R):5'- GAGTCTCTCTCTCTCTCTCTCTC -3'

Posted On

2015-07-21