Mutagenetix > Incidental Mutation

Incidental Mutation 'R4698:Spata7'

355852

Institutional Source

Beutler Lab

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 #

R4698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98594416-98636074 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98630536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 333 (I333F)

Ref Sequence

ENSEMBL: ENSMUSP00000098705 (fasta)

Gene Model

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

AlphaFold

Q80VP2

Predicted Effect

probably damaging
Transcript: ENSMUST00000048402
AA Change: I365F

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

SMART Domains

Protein: ENSMUSP00000045827
Gene: ENSMUSG00000021007
AA Change: I365F

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

Predicted Effect

unknown
Transcript: ENSMUST00000101144
AA Change: I198F

SMART Domains

Protein: ENSMUSP00000098704
Gene: ENSMUSG00000021007
AA Change: I198F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000101146
AA Change: I333F

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

SMART Domains

Protein: ENSMUSP00000098705
Gene: ENSMUSG00000021007
AA Change: I333F

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	A	G	17: 48,349,049 (GRCm39)	V11A	possibly damaging	Het
6030452D12Rik	T	C	8: 107,230,979 (GRCm39)	I55T	unknown	Het
Aadacl2	A	G	3: 59,932,460 (GRCm39)	D325G	probably benign	Het
Adh1	A	G	3: 137,988,274 (GRCm39)	S113G	probably benign	Het
Agxt2	T	C	15: 10,392,130 (GRCm39)		probably null	Het
Aicda	C	T	6: 122,530,847 (GRCm39)		probably benign	Het
Aifm2	T	C	10: 61,563,535 (GRCm39)	M135T	probably benign	Het
Asah2	T	C	19: 32,031,871 (GRCm39)		probably null	Het
Btbd17	T	C	11: 114,682,543 (GRCm39)	R390G	probably damaging	Het
Cadps	T	C	14: 12,705,654 (GRCm38)	E247G	possibly damaging	Het
Cds2	T	C	2: 132,146,873 (GRCm39)	I383T	probably damaging	Het
Celf3	T	A	3: 94,392,174 (GRCm39)		probably null	Het
Crhr2	T	C	6: 55,079,852 (GRCm39)	S162G	possibly damaging	Het
Dapl1	A	T	2: 59,335,118 (GRCm39)	K91*	probably null	Het
Ddx60	A	C	8: 62,465,458 (GRCm39)	M1372L	probably benign	Het
Dnah2	A	T	11: 69,389,358 (GRCm39)	F845I	probably damaging	Het
Dscam	T	C	16: 96,411,524 (GRCm39)	D1784G	probably damaging	Het
Ech1	T	C	7: 28,531,478 (GRCm39)	V310A	probably benign	Het
Eef1g	A	G	19: 8,955,330 (GRCm39)	D393G	possibly damaging	Het
Eif3k	T	C	7: 28,671,969 (GRCm39)	I172V	possibly damaging	Het
Foxd4	A	G	19: 24,877,625 (GRCm39)	F192L	probably damaging	Het
Gpr153	T	A	4: 152,366,240 (GRCm39)	S268R	probably damaging	Het
H3c13	C	A	3: 96,176,394 (GRCm39)	R129S	probably damaging	Het
Ivl	T	C	3: 92,478,698 (GRCm39)	K456E	unknown	Het
Kif20b	A	T	19: 34,928,944 (GRCm39)	D1190V	probably damaging	Het
Kif21a	T	A	15: 90,840,508 (GRCm39)	I1223L	possibly damaging	Het
Lmf1	T	C	17: 25,798,324 (GRCm39)	V55A	probably damaging	Het
Loxhd1	A	G	18: 77,459,987 (GRCm39)	E659G	possibly damaging	Het
Lrrc37a	T	C	11: 103,394,930 (GRCm39)	E165G	possibly damaging	Het
Mios	T	C	6: 8,228,113 (GRCm39)	Y677H	possibly damaging	Het
Mnx1	T	A	5: 29,679,057 (GRCm39)	K342M	unknown	Het
Mtpap	A	T	18: 4,375,724 (GRCm39)	T35S	possibly damaging	Het
Ndc1	C	G	4: 107,268,334 (GRCm39)	D623E	probably benign	Het
Nedd4l	A	G	18: 65,336,951 (GRCm39)	Y666C	probably damaging	Het
Or52s6	T	A	7: 103,091,842 (GRCm39)	I163F	possibly damaging	Het
Or5ac22	T	C	16: 59,135,720 (GRCm39)	T17A	probably damaging	Het
Or5b12b	T	G	19: 12,861,985 (GRCm39)	F247V	probably benign	Het
Or5m10b	A	G	2: 85,699,596 (GRCm39)	Y220C	possibly damaging	Het
Papss1	G	T	3: 131,313,092 (GRCm39)	V369F	probably damaging	Het
Pcdhac2	T	A	18: 37,278,822 (GRCm39)	Y601N	probably damaging	Het
Pde7a	C	T	3: 19,365,095 (GRCm39)	R24Q	probably damaging	Het
Phf21a	A	G	2: 92,187,297 (GRCm39)	D445G	probably damaging	Het
Plekho1	T	A	3: 95,902,964 (GRCm39)	N15I	possibly damaging	Het
Pprc1	T	C	19: 46,057,634 (GRCm39)		probably benign	Het
Ralgapa1	A	T	12: 55,724,061 (GRCm39)		probably null	Het
Rrp12	T	C	19: 41,861,481 (GRCm39)	E942G	probably benign	Het
Skor1	T	C	9: 63,051,830 (GRCm39)	D685G	probably benign	Het
Smim23	A	T	11: 32,774,510 (GRCm39)	I3N	possibly damaging	Het
Sppl2c	T	C	11: 104,079,141 (GRCm39)	I647T	probably benign	Het
Srgap1	C	A	10: 121,628,392 (GRCm39)	R837L	probably benign	Het
Stpg2	C	A	3: 139,014,990 (GRCm39)	P385H	probably damaging	Het
Tmem238	C	A	7: 4,792,016 (GRCm39)	E19*	probably null	Het
Top2b	A	T	14: 16,387,331 (GRCm38)	K140*	probably null	Het
Trp53	T	A	11: 69,479,248 (GRCm39)	L142*	probably null	Het
Tyro3	A	T	2: 119,633,751 (GRCm39)	D133V	probably damaging	Het
Virma	T	A	4: 11,528,636 (GRCm39)	I1291N	probably damaging	Het
Vmn1r213	A	G	13: 23,195,507 (GRCm39)		probably benign	Het
Zbtb10	T	C	3: 9,329,610 (GRCm39)	S323P	possibly damaging	Het
Zfp521	A	T	18: 13,978,660 (GRCm39)	N584K	probably damaging	Het
Zfp944	A	G	17: 22,558,180 (GRCm39)	C356R	probably damaging	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
IGL02379:Spata7	APN	12	98,600,519 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CCGTTGGGTGCTAATTTCTCAC -3'
(R):5'- GTTTTCTATGGAGTGTGAAACAGCC -3'

Sequencing Primer
(F):5'- GTTGGGTGCTAATTTCTCACTTTTAC -3'
(R):5'- AAAGTCACATAGTGTGA -3'

Posted On

2015-10-21