Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02379:Spata7'

291266

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spata7

Ensembl Gene

ENSMUSG00000021007

Gene Name

spermatogenesis associated 7

Synonyms

B230306G18Rik, HSD3

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

IGL02379

Quality Score

Status

Chromosome

Chromosomal Location

98628157-98669815 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98634260 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 44 (T44I)

Ref Sequence

ENSEMBL: ENSMUSP00000098704 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000048402
AA Change: T44I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045827
Gene: ENSMUSG00000021007
AA Change: T44I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000101144
AA Change: T44I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098704
Gene: ENSMUSG00000021007
AA Change: T44I

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

Predicted Effect

probably benign
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: ENSMUST00000130136

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221273

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222195

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222378

Coding Region Coverage

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,622,043	I996F	probably damaging	Het
Adamts9	T	A	6: 92,797,033	D1133V	probably damaging	Het
Adi1	T	A	12: 28,679,467	D106E	probably damaging	Het
Agl	A	G	3: 116,779,091	F837S	probably damaging	Het
Alb	T	A	5: 90,465,879	D207E	probably benign	Het
Alms1	T	G	6: 85,629,633	V2286G	probably damaging	Het
Alpl	G	A	4: 137,742,558	A485V	probably damaging	Het
Antxrl	C	A	14: 34,056,535		probably null	Het
Apc	C	T	18: 34,298,745	T417I	probably benign	Het
Ash2l	T	C	8: 25,822,771	D390G	probably damaging	Het
Asph	G	A	4: 9,474,980	P582S	probably damaging	Het
Bcr	T	A	10: 75,157,148	L825Q	probably benign	Het
Bhlha15	T	A	5: 144,191,341	N90K	probably damaging	Het
Cgnl1	T	A	9: 71,645,553	Y1043F	possibly damaging	Het
Chek1	T	C	9: 36,723,946	D47G	probably benign	Het
Clca4b	T	A	3: 144,921,858	M451L	probably benign	Het
Csnk1g3	T	C	18: 53,933,492	S346P	probably benign	Het
Cspg4	G	T	9: 56,892,609		probably benign	Het
Ctr9	A	G	7: 111,051,519	K884E	probably damaging	Het
Cyld	T	A	8: 88,744,928	C813*	probably null	Het
Fn3k	A	T	11: 121,435,124	T46S	probably benign	Het
Foxred1	T	C	9: 35,209,986	R89G	probably benign	Het
Gpr174	T	C	X: 107,293,478	F299L	probably damaging	Het
Hdac7	T	C	15: 97,808,385	D312G	probably damaging	Het
Il1f8	A	G	2: 24,154,638	S17G	probably benign	Het
Kcna5	G	T	6: 126,534,509	P219T	probably damaging	Het
Kcnh2	A	C	5: 24,326,638	V425G	probably damaging	Het
Klk5	A	G	7: 43,850,822	N278S	probably damaging	Het
Mars2	T	A	1: 55,238,053	W272R	probably damaging	Het
Msl3l2	C	A	10: 56,115,921	S247R	possibly damaging	Het
Myh7	T	C	14: 54,979,468	E1144G	probably damaging	Het
Nefm	T	C	14: 68,120,239		probably benign	Het
Nwd2	A	G	5: 63,805,301	K743E	probably damaging	Het
Nyap2	C	T	1: 81,087,430	T53I	probably damaging	Het
Olfr1124	T	C	2: 87,435,324	V279A	probably benign	Het
Olfr617	T	C	7: 103,584,892	V290A	possibly damaging	Het
Peli2	A	G	14: 48,168,298	H60R	probably damaging	Het
Pias2	T	A	18: 77,145,148		probably benign	Het
Pik3c2b	A	G	1: 133,094,791	D1157G	probably damaging	Het
Pip4k2a	C	T	2: 18,866,111		probably null	Het
Raf1	A	T	6: 115,644,548	D23E	probably benign	Het
Rhox10	G	A	X: 38,066,856	R87H	probably benign	Het
Rpgrip1	A	G	14: 52,138,888	T449A	possibly damaging	Het
Serpina3a	T	A	12: 104,118,660	S105T	probably benign	Het
Slc12a9	T	G	5: 137,321,429	Q608P	probably damaging	Het
Smg6	C	A	11: 75,053,925	P167T	probably damaging	Het
Spink12	C	T	18: 44,106,508		probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Stag2	C	T	X: 42,250,597	T754I	probably benign	Het
Supt6	C	T	11: 78,225,369	V723M	possibly damaging	Het
Ttc25	A	T	11: 100,566,983	N471Y	possibly damaging	Het
Ubr3	A	G	2: 69,948,488	D614G	possibly damaging	Het
Vps39	T	A	2: 120,323,608	K624N	probably benign	Het
Vwa5b1	A	T	4: 138,612,859	L29Q	probably damaging	Het
Wtap	G	A	17: 12,969,449	A188V	probably benign	Het
Zc3hc1	A	G	6: 30,390,975	F5L	probably benign	Het
Zfp655	C	T	5: 145,243,955	P208S	probably benign	Het
Zswim3	A	T	2: 164,820,682		probably null	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
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
R6414:Spata7	UTSW	12	98663220	critical splice donor site	probably null
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

Posted On

2015-04-16