Mutagenetix > Incidental Mutation

Incidental Mutation 'R0422:Spata7'

37144

Institutional Source

Beutler Lab

Gene Symbol

Spata7

Ensembl Gene

ENSMUSG00000021007

Gene Name

spermatogenesis associated 7

Synonyms

B230306G18Rik, HSD3

MMRRC Submission

038624-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R0422 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98594416-98636074 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98624524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 110 (Y110C)

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: Y142C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000045827
Gene: ENSMUSG00000021007
AA Change: Y142C

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

Predicted Effect

probably benign
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 damaging
Transcript: ENSMUST00000101146
AA Change: Y110C

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098705
Gene: ENSMUSG00000021007
AA Change: Y110C

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	T	A	7: 119,372,963 (GRCm39)	Y155*	probably null	Het
Adamts16	A	G	13: 70,887,074 (GRCm39)	C937R	probably damaging	Het
Akna	T	C	4: 63,310,391 (GRCm39)	D451G	probably damaging	Het
Alox12	A	T	11: 70,145,384 (GRCm39)	V63E	probably damaging	Het
Ap3b1	T	C	13: 94,598,968 (GRCm39)	I514T	probably damaging	Het
Arhgap23	T	C	11: 97,354,478 (GRCm39)	M286T	probably damaging	Het
Cdkl2	T	C	5: 92,168,171 (GRCm39)	D341G	probably benign	Het
Clip2	T	C	5: 134,526,967 (GRCm39)	D813G	probably benign	Het
Cntnap3	A	G	13: 64,905,099 (GRCm39)	V894A	probably damaging	Het
Coro2b	T	A	9: 62,335,259 (GRCm39)	Y304F	probably benign	Het
Dclre1a	T	A	19: 56,532,567 (GRCm39)	K676*	probably null	Het
Dmxl2	A	G	9: 54,307,224 (GRCm39)		probably null	Het
Dpep3	A	G	8: 106,702,750 (GRCm39)		probably null	Het
Efna5	C	T	17: 62,914,414 (GRCm39)	A177T	probably benign	Het
Fabp1	G	A	6: 71,180,077 (GRCm39)	V83I	possibly damaging	Het
H2-DMa	G	T	17: 34,356,921 (GRCm39)	G140C	probably damaging	Het
Hectd4	T	A	5: 121,481,145 (GRCm39)		probably null	Het
Hyou1	T	A	9: 44,300,539 (GRCm39)	N869K	probably damaging	Het
Ing1	G	A	8: 11,611,933 (GRCm39)	V124I	probably damaging	Het
Kalrn	T	A	16: 34,134,643 (GRCm39)	I380F	probably damaging	Het
Kcnh1	A	G	1: 192,019,888 (GRCm39)	I378V	probably benign	Het
Kmt2c	A	G	5: 25,520,662 (GRCm39)	V1816A	probably benign	Het
Matn2	G	A	15: 34,435,917 (GRCm39)		probably null	Het
Naip2	C	T	13: 100,297,621 (GRCm39)	S805N	probably benign	Het
Napsa	A	C	7: 44,234,530 (GRCm39)	Q254P	probably damaging	Het
Nat10	G	T	2: 103,557,074 (GRCm39)	S860*	probably null	Het
Nipbl	T	C	15: 8,381,112 (GRCm39)	D560G	probably benign	Het
Nr3c2	A	G	8: 77,912,596 (GRCm39)	M736V	probably benign	Het
Or4k44	A	T	2: 111,368,328 (GRCm39)	F102Y	probably damaging	Het
Or7e174	A	T	9: 20,012,744 (GRCm39)	R230*	probably null	Het
Or8u8	A	T	2: 86,011,566 (GRCm39)	D296E	probably benign	Het
Palm3	A	G	8: 84,755,492 (GRCm39)	S335G	possibly damaging	Het
Panx1	G	T	9: 14,919,112 (GRCm39)	S249*	probably null	Het
Parvb	A	G	15: 84,179,812 (GRCm39)	T231A	probably benign	Het
Pcdhb11	G	T	18: 37,554,923 (GRCm39)	L84F	probably damaging	Het
Pi4k2b	T	C	5: 52,925,096 (GRCm39)	*447Q	probably null	Het
Ppp1r1a	A	G	15: 103,440,783 (GRCm39)	S125P	probably benign	Het
Prss1	T	A	6: 41,440,246 (GRCm39)	D194E	probably damaging	Het
Rnf216	A	T	5: 143,001,409 (GRCm39)	C772*	probably null	Het
Rnf216	A	T	5: 143,076,125 (GRCm39)	F253Y	probably benign	Het
Rsf1	A	T	7: 97,330,024 (GRCm39)	E1183D	probably benign	Het
Rusc1	T	C	3: 88,994,132 (GRCm39)	T958A	probably benign	Het
Rxfp1	A	G	3: 79,558,038 (GRCm39)	M480T	probably benign	Het
Slc22a16	T	A	10: 40,467,886 (GRCm39)	V473E	probably damaging	Het
Slc26a3	A	G	12: 31,515,848 (GRCm39)	T583A	possibly damaging	Het
Slc7a15	T	C	12: 8,584,400 (GRCm39)	T117A	probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Slitrk6	T	A	14: 110,989,725 (GRCm39)		probably benign	Het
Spata31g1	T	C	4: 42,972,199 (GRCm39)	S511P	possibly damaging	Het
Supt16	T	A	14: 52,421,453 (GRCm39)	I31F	probably benign	Het
Taar7a	T	C	10: 23,869,172 (GRCm39)	T70A	probably benign	Het
Top2a	A	G	11: 98,900,679 (GRCm39)	F594L	probably damaging	Het
Unc13d	C	T	11: 115,960,846 (GRCm39)		probably null	Het
Unc80	T	G	1: 66,522,497 (GRCm39)	V233G	probably damaging	Het
Wdr91	A	T	6: 34,857,781 (GRCm39)	D735E	probably damaging	Het
Zzef1	A	G	11: 72,756,917 (GRCm39)	T1141A	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- CATTCAGCCCATCACTGCGAGG -3'
(R):5'- CAGCTCTGGACATGCCATACAGAC -3'

Sequencing Primer
(F):5'- CATCACTGCGAGGAAAAAGTGC -3'
(R):5'- CAGACCTGCTTAATTCAGTTTGG -3'

Posted On

2013-05-09