Mutagenetix > Incidental Mutations

Incidental Mutation 'R6414:Spata7'

514880

Institutional Source

Beutler Lab

Gene Symbol

Spata7

Ensembl Gene

ENSMUSG00000021007

Gene Name

spermatogenesis associated 7

Synonyms

B230306G18Rik, HSD3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R6414 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98628157-98669815 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 98663220 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000098705 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048402] [ENSMUST00000101144] [ENSMUST00000101146]

Predicted Effect

probably null
Transcript: ENSMUST00000048402

SMART Domains

Protein: ENSMUSP00000045827
Gene: ENSMUSG00000021007

Domain	Start	End	E-Value	Type
Pfam:HSD3	9	410	1e-190	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000101144

SMART Domains

Protein: ENSMUSP00000098704
Gene: ENSMUSG00000021007

Domain	Start	End	E-Value	Type
Pfam:HSD3	6	131	7.5e-73	PFAM
Pfam:HSD3	122	244	6e-63	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000101146

SMART Domains

Protein: ENSMUSP00000098705
Gene: ENSMUSG00000021007

Domain	Start	End	E-Value	Type
Pfam:HSD3	6	33	1e-11	PFAM
Pfam:HSD3	31	379	2.1e-171	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152482

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

98% (57/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a null allele display progressive retinal rod cell degeneration, a thin retinal outer nuclear layer and impaired scotopic responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	G	11: 69,884,336	V367A	probably benign	Het
Alpk1	T	C	3: 127,680,209	D715G	probably benign	Het
Atg101	T	A	15: 101,290,460	C149S	probably benign	Het
Atp2c1	A	T	9: 105,466,656	I84N	probably damaging	Het
Ceacam20	C	A	7: 19,976,131	A360E	probably damaging	Het
Chd3	A	T	11: 69,352,545		probably null	Het
Clcc1	G	A	3: 108,676,851	C517Y	possibly damaging	Het
Col6a5	T	C	9: 105,892,266		probably null	Het
Ctnna3	T	C	10: 64,260,865	V394A	probably benign	Het
Ctsll3	A	G	13: 60,800,299	F188S	probably damaging	Het
Cyth4	T	C	15: 78,608,146	V125A	probably damaging	Het
Ddx43	G	A	9: 78,400,936	V131I	probably benign	Het
Elp4	A	G	2: 105,904,443	S16P	possibly damaging	Het
Espl1	T	A	15: 102,315,560	V1182E	probably damaging	Het
Fhod3	T	C	18: 25,090,878	S1094P	possibly damaging	Het
Fmo6	A	T	1: 162,920,445	V350D	probably damaging	Het
Frem1	A	G	4: 82,940,536	F1545S	probably damaging	Het
Gata3	T	A	2: 9,858,434	H423L	possibly damaging	Het
Gm438	T	A	4: 144,777,415	I389L	possibly damaging	Het
Golt1a	A	T	1: 133,320,294	M87L	probably damaging	Het
Gpr171	A	T	3: 59,098,123	V77E	probably damaging	Het
Hectd2	A	G	19: 36,618,786	D757G	probably benign	Het
Hmmr	A	G	11: 40,715,867		probably null	Het
Il31ra	A	G	13: 112,523,907	V635A	possibly damaging	Het
Lama1	T	C	17: 67,746,910		probably null	Het
Ltbp4	G	A	7: 27,310,715	P1140L	probably damaging	Het
Macf1	A	G	4: 123,493,195	L1210P	possibly damaging	Het
Meox2	A	T	12: 37,108,831	M1L	probably benign	Het
Mex3d	A	G	10: 80,381,371	S671P	unknown	Het
Mrgprb2	C	T	7: 48,552,381	V199I	probably benign	Het
Mroh9	A	T	1: 163,074,702	V114E	probably damaging	Het
Muc5b	A	G	7: 141,859,097	K1927E	unknown	Het
Olfr1275	A	C	2: 111,231,152		probably null	Het
Olfr781	T	A	10: 129,333,709	I276K	probably benign	Het
Otogl	C	T	10: 107,782,050	C1734Y	probably damaging	Het
Parp4	T	A	14: 56,627,381		probably null	Het
Pcdh15	T	A	10: 74,185,426	N162K	probably damaging	Het
Pcdhb10	A	C	18: 37,413,845	H658P	possibly damaging	Het
Pgm2l1	G	T	7: 100,255,540	A160S	possibly damaging	Het
Prkag2	T	A	5: 25,100,180		probably benign	Het
Rap1gap2	A	G	11: 74,405,790	L457P	probably damaging	Het
Rasef	C	T	4: 73,740,581	V463M	probably benign	Het
Rb1	T	C	14: 73,282,974	S42G	unknown	Het
Reep3	C	A	10: 67,039,577	V36F	probably damaging	Het
Rhcg	A	G	7: 79,598,968		probably null	Het
Sbno1	T	C	5: 124,395,931	S661G	probably benign	Het
Slc25a3	T	G	10: 91,122,328	Q50P	possibly damaging	Het
Slc2a13	T	A	15: 91,343,805	I395F	probably benign	Het
Slc6a5	C	T	7: 49,910,243		probably benign	Het
Snta1	G	C	2: 154,378,067	T391S	possibly damaging	Het
Stx17	A	G	4: 48,158,809		probably null	Het
Terf2	A	T	8: 107,076,854	S365T	probably benign	Het
Tmem231	G	A	8: 111,926,892		probably benign	Het
Trim8	A	T	19: 46,502,907	H155L	probably benign	Het
Wipi2	T	A	5: 142,655,938	V83D	probably damaging	Het
Zfp316	C	A	5: 143,254,884	R460L	possibly damaging	Het
Zfp651	T	G	9: 121,763,659	D348E	probably benign	Het
Zfp799	C	T	17: 32,820,285	V336M	probably damaging	Het
Zfp947	A	T	17: 22,146,414	I93N	probably damaging	Het
Zranb3	A	G	1: 128,040,957	Y74H	probably benign	Het

Other mutations in Spata7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00535:Spata7	APN	12	98668840	missense	probably damaging	1.00
IGL02283:Spata7	APN	12	98658258	missense	probably damaging	0.96
IGL02379:Spata7	APN	12	98634260	missense	probably damaging	1.00
R0200:Spata7	UTSW	12	98663169	missense	probably benign	0.32
R0422:Spata7	UTSW	12	98658265	missense	probably damaging	0.99
R0847:Spata7	UTSW	12	98648430	missense	possibly damaging	0.82
R1228:Spata7	UTSW	12	98634269	missense	probably damaging	1.00
R1497:Spata7	UTSW	12	98668861	missense	probably damaging	1.00
R1693:Spata7	UTSW	12	98664257	missense	possibly damaging	0.85
R2183:Spata7	UTSW	12	98637612	missense	probably damaging	1.00
R2507:Spata7	UTSW	12	98658450	missense	probably benign
R3176:Spata7	UTSW	12	98637598	missense	possibly damaging	0.78
R3177:Spata7	UTSW	12	98637598	missense	possibly damaging	0.78
R3276:Spata7	UTSW	12	98637598	missense	possibly damaging	0.78
R3277:Spata7	UTSW	12	98637598	missense	possibly damaging	0.78
R3951:Spata7	UTSW	12	98669473	missense	probably damaging	0.98
R4698:Spata7	UTSW	12	98664277	missense	probably damaging	1.00
R4919:Spata7	UTSW	12	98648453	missense	possibly damaging	0.65
R5088:Spata7	UTSW	12	98669502	missense	probably benign	0.43
R5583:Spata7	UTSW	12	98669331	missense	probably damaging	0.98
R6451:Spata7	UTSW	12	98658337	missense	probably benign	0.02
R7167:Spata7	UTSW	12	98664296	missense	probably damaging	1.00
R7316:Spata7	UTSW	12	98658612	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAAGGCCACGAGTAAGTTG -3'
(R):5'- ACTTAGGGATGCATTTCCACTAAAG -3'

Sequencing Primer
(F):5'- GTCCTTGAAACTCATTGCACATGTG -3'
(R):5'- GATTAAATGCCCAGGATTCCCC -3'

Posted On

2018-05-04