Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

IGL02379

Quality Score

Status

Chromosome

Chromosomal Location

98594416-98636074 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98600519 bp (GRCm39)

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]

AlphaFold

Q80VP2

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: 121,760,106 (GRCm39)	I996F	probably damaging	Het
Adamts9	T	A	6: 92,774,014 (GRCm39)	D1133V	probably damaging	Het
Adi1	T	A	12: 28,729,466 (GRCm39)	D106E	probably damaging	Het
Agl	A	G	3: 116,572,740 (GRCm39)	F837S	probably damaging	Het
Alb	T	A	5: 90,613,738 (GRCm39)	D207E	probably benign	Het
Alms1	T	G	6: 85,606,615 (GRCm39)	V2286G	probably damaging	Het
Alpl	G	A	4: 137,469,869 (GRCm39)	A485V	probably damaging	Het
Antxrl	C	A	14: 33,778,492 (GRCm39)		probably null	Het
Apc	C	T	18: 34,431,798 (GRCm39)	T417I	probably benign	Het
Ash2l	T	C	8: 26,312,799 (GRCm39)	D390G	probably damaging	Het
Asph	G	A	4: 9,474,980 (GRCm39)	P582S	probably damaging	Het
Bcr	T	A	10: 74,992,980 (GRCm39)	L825Q	probably benign	Het
Bhlha15	T	A	5: 144,128,159 (GRCm39)	N90K	probably damaging	Het
Cgnl1	T	A	9: 71,552,835 (GRCm39)	Y1043F	possibly damaging	Het
Chek1	T	C	9: 36,635,242 (GRCm39)	D47G	probably benign	Het
Clca4b	T	A	3: 144,627,619 (GRCm39)	M451L	probably benign	Het
Csnk1g3	T	C	18: 54,066,564 (GRCm39)	S346P	probably benign	Het
Cspg4	G	T	9: 56,799,893 (GRCm39)		probably benign	Het
Ctr9	A	G	7: 110,650,726 (GRCm39)	K884E	probably damaging	Het
Cyld	T	A	8: 89,471,556 (GRCm39)	C813*	probably null	Het
Fn3k	A	T	11: 121,325,950 (GRCm39)	T46S	probably benign	Het
Foxred1	T	C	9: 35,121,282 (GRCm39)	R89G	probably benign	Het
Gpr174	T	C	X: 106,337,084 (GRCm39)	F299L	probably damaging	Het
Hdac7	T	C	15: 97,706,266 (GRCm39)	D312G	probably damaging	Het
Il36b	A	G	2: 24,044,650 (GRCm39)	S17G	probably benign	Het
Kcna5	G	T	6: 126,511,472 (GRCm39)	P219T	probably damaging	Het
Kcnh2	A	C	5: 24,531,636 (GRCm39)	V425G	probably damaging	Het
Klk1b5	A	G	7: 43,500,246 (GRCm39)	N278S	probably damaging	Het
Mars2	T	A	1: 55,277,212 (GRCm39)	W272R	probably damaging	Het
Msl3l2	C	A	10: 55,992,017 (GRCm39)	S247R	possibly damaging	Het
Myh7	T	C	14: 55,216,925 (GRCm39)	E1144G	probably damaging	Het
Nefm	T	C	14: 68,357,688 (GRCm39)		probably benign	Het
Nwd2	A	G	5: 63,962,644 (GRCm39)	K743E	probably damaging	Het
Nyap2	C	T	1: 81,065,147 (GRCm39)	T53I	probably damaging	Het
Odad4	A	T	11: 100,457,809 (GRCm39)	N471Y	possibly damaging	Het
Or10ag58	T	C	2: 87,265,668 (GRCm39)	V279A	probably benign	Het
Or52z12	T	C	7: 103,234,099 (GRCm39)	V290A	possibly damaging	Het
Peli2	A	G	14: 48,405,755 (GRCm39)	H60R	probably damaging	Het
Pias2	T	A	18: 77,232,844 (GRCm39)		probably benign	Het
Pik3c2b	A	G	1: 133,022,529 (GRCm39)	D1157G	probably damaging	Het
Pip4k2a	C	T	2: 18,870,922 (GRCm39)		probably null	Het
Raf1	A	T	6: 115,621,509 (GRCm39)	D23E	probably benign	Het
Rhox10	G	A	X: 37,155,733 (GRCm39)	R87H	probably benign	Het
Rpgrip1	A	G	14: 52,376,345 (GRCm39)	T449A	possibly damaging	Het
Serpina3a	T	A	12: 104,084,919 (GRCm39)	S105T	probably benign	Het
Slc12a9	T	G	5: 137,319,691 (GRCm39)	Q608P	probably damaging	Het
Smg6	C	A	11: 74,944,751 (GRCm39)	P167T	probably damaging	Het
Spink12	C	T	18: 44,239,575 (GRCm39)		probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stag2	C	T	X: 41,339,474 (GRCm39)	T754I	probably benign	Het
Supt6	C	T	11: 78,116,195 (GRCm39)	V723M	possibly damaging	Het
Ubr3	A	G	2: 69,778,832 (GRCm39)	D614G	possibly damaging	Het
Vps39	T	A	2: 120,154,089 (GRCm39)	K624N	probably benign	Het
Vwa5b1	A	T	4: 138,340,170 (GRCm39)	L29Q	probably damaging	Het
Wtap	G	A	17: 13,188,336 (GRCm39)	A188V	probably benign	Het
Zc3hc1	A	G	6: 30,390,974 (GRCm39)	F5L	probably benign	Het
Zfp655	C	T	5: 145,180,765 (GRCm39)	P208S	probably benign	Het
Zswim3	A	T	2: 164,662,602 (GRCm39)		probably null	Het

Other mutations in Spata7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00535:Spata7	APN	12	98,635,099 (GRCm39)	missense	probably damaging	1.00
IGL02283:Spata7	APN	12	98,624,517 (GRCm39)	missense	probably damaging	0.96
R0200:Spata7	UTSW	12	98,629,428 (GRCm39)	missense	probably benign	0.32
R0422:Spata7	UTSW	12	98,624,524 (GRCm39)	missense	probably damaging	0.99
R0847:Spata7	UTSW	12	98,614,689 (GRCm39)	missense	possibly damaging	0.82
R1228:Spata7	UTSW	12	98,600,528 (GRCm39)	missense	probably damaging	1.00
R1497:Spata7	UTSW	12	98,635,120 (GRCm39)	missense	probably damaging	1.00
R1693:Spata7	UTSW	12	98,630,516 (GRCm39)	missense	possibly damaging	0.85
R2183:Spata7	UTSW	12	98,603,871 (GRCm39)	missense	probably damaging	1.00
R2507:Spata7	UTSW	12	98,624,709 (GRCm39)	missense	probably benign
R3176:Spata7	UTSW	12	98,603,857 (GRCm39)	missense	possibly damaging	0.78
R3177:Spata7	UTSW	12	98,603,857 (GRCm39)	missense	possibly damaging	0.78
R3276:Spata7	UTSW	12	98,603,857 (GRCm39)	missense	possibly damaging	0.78
R3277:Spata7	UTSW	12	98,603,857 (GRCm39)	missense	possibly damaging	0.78
R3951:Spata7	UTSW	12	98,635,732 (GRCm39)	missense	probably damaging	0.98
R4698:Spata7	UTSW	12	98,630,536 (GRCm39)	missense	probably damaging	1.00
R4919:Spata7	UTSW	12	98,614,712 (GRCm39)	missense	possibly damaging	0.65
R5088:Spata7	UTSW	12	98,635,761 (GRCm39)	missense	probably benign	0.43
R5583:Spata7	UTSW	12	98,635,590 (GRCm39)	missense	probably damaging	0.98
R6414:Spata7	UTSW	12	98,629,479 (GRCm39)	critical splice donor site	probably null
R6451:Spata7	UTSW	12	98,624,596 (GRCm39)	missense	probably benign	0.02
R7167:Spata7	UTSW	12	98,630,555 (GRCm39)	missense	probably damaging	1.00
R7316:Spata7	UTSW	12	98,624,871 (GRCm39)	missense	probably damaging	1.00
R8731:Spata7	UTSW	12	98,624,541 (GRCm39)	missense	probably damaging	1.00
R8778:Spata7	UTSW	12	98,624,815 (GRCm39)	missense	probably damaging	1.00
R9173:Spata7	UTSW	12	98,603,853 (GRCm39)	missense	probably damaging	1.00
R9379:Spata7	UTSW	12	98,600,548 (GRCm39)	missense	probably benign
R9572:Spata7	UTSW	12	98,614,655 (GRCm39)	missense	probably damaging	1.00
R9597:Spata7	UTSW	12	98,600,559 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16