Mutagenetix > Incidental Mutation

Incidental Mutation 'R3176:Spata7'

476014

Institutional Source

Beutler Lab

Gene Symbol

Spata7

Ensembl Gene

ENSMUSG00000021007

Gene Name

spermatogenesis associated 7

Synonyms

B230306G18Rik, HSD3

MMRRC Submission

040614-MU

Accession Numbers

Essential gene?

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

Stock #

R3176 (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 98603857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 75 (N75D)

Ref Sequence

ENSEMBL: ENSMUSP00000098704 (fasta)

Gene Model

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

AlphaFold

Q80VP2

Predicted Effect

probably benign
Transcript: ENSMUST00000048402
AA Change: N75D

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000045827
Gene: ENSMUSG00000021007
AA Change: N75D

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101144
AA Change: N75D

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000098704
Gene: ENSMUSG00000021007
AA Change: N75D

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
AA Change: N43D

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000098705
Gene: ENSMUSG00000021007
AA Change: N43D

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: ENSMUST00000221455

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222378

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (28/28)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 87,233,495 (GRCm39)	R1269H	probably damaging	Het
Ace	A	G	11: 105,867,528 (GRCm39)	E164G	probably null	Het
Als2	A	T	1: 59,209,167 (GRCm39)	V1464E	possibly damaging	Het
Atox1	A	G	11: 55,341,379 (GRCm39)	L52P	possibly damaging	Het
Btnl10	A	G	11: 58,813,216 (GRCm39)	K282E	probably benign	Het
Cdkn3	T	C	14: 47,008,934 (GRCm39)		probably benign	Het
Ces2a	A	G	8: 105,466,010 (GRCm39)		probably benign	Het
Col16a1	A	G	4: 129,951,792 (GRCm39)	K72E	probably damaging	Het
Col6a5	G	A	9: 105,788,306 (GRCm39)	R1565*	probably null	Het
Col6a6	T	C	9: 105,663,429 (GRCm39)	H36R	probably benign	Het
Cyp4b1	T	C	4: 115,483,047 (GRCm39)	N415D	possibly damaging	Het
Dcp1a	A	G	14: 30,227,499 (GRCm39)		probably benign	Het
Dennd4a	G	T	9: 64,796,275 (GRCm39)	R767L	probably damaging	Het
Dhcr24	T	C	4: 106,418,436 (GRCm39)	F25L	probably benign	Het
Dhrs3	A	G	4: 144,650,510 (GRCm39)	T219A	probably benign	Het
Dhx58	A	G	11: 100,587,805 (GRCm39)	F584S	probably damaging	Het
Dmbt1	A	G	7: 130,689,801 (GRCm39)	T715A	probably benign	Het
Dtx3l	A	G	16: 35,752,543 (GRCm39)	S688P	probably benign	Het
Eogt	T	A	6: 97,108,355 (GRCm39)	I229F	probably benign	Het
Ern2	T	C	7: 121,780,187 (GRCm39)	T164A	possibly damaging	Het
Fam133b	A	T	5: 3,608,522 (GRCm39)	N84I	probably damaging	Het
Fbxl21	T	A	13: 56,684,935 (GRCm39)	Y346*	probably null	Het
Fcgbp	C	A	7: 27,791,086 (GRCm39)	H782Q	probably damaging	Het
Gm5592	A	G	7: 40,937,804 (GRCm39)	E362G	probably benign	Het
Gpatch2l	A	G	12: 86,291,089 (GRCm39)	T91A	possibly damaging	Het
Hao2	T	C	3: 98,787,644 (GRCm39)		probably benign	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Itgad	C	A	7: 127,790,153 (GRCm39)	H651N	possibly damaging	Het
Itgav	A	G	2: 83,606,886 (GRCm39)	D409G	probably damaging	Het
Kcnt2	A	G	1: 140,537,377 (GRCm39)	N1119S	probably benign	Het
Kif15	T	C	9: 122,816,905 (GRCm39)		probably benign	Het
Klhl32	T	C	4: 24,682,063 (GRCm39)	I207V	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lhfpl5	T	C	17: 28,798,920 (GRCm39)	I143T	possibly damaging	Het
Lrrk1	T	C	7: 65,955,269 (GRCm39)	K431E	possibly damaging	Het
Mag	C	T	7: 30,601,073 (GRCm39)		probably null	Het
Maml3	A	T	3: 51,764,351 (GRCm39)	N204K	possibly damaging	Het
Mmut	A	G	17: 41,269,763 (GRCm39)		probably null	Het
Mrpl19	T	C	6: 81,941,047 (GRCm39)	S115G	probably damaging	Het
Mthfd1l	G	C	10: 4,098,025 (GRCm39)	G954A	probably damaging	Het
Myo19	A	G	11: 84,783,001 (GRCm39)	I172V	probably benign	Het
Naca	T	C	10: 127,876,530 (GRCm39)		probably benign	Het
Nbeal2	G	A	9: 110,465,955 (GRCm39)		probably benign	Het
Nfatc2	T	C	2: 168,348,914 (GRCm39)	N638D	possibly damaging	Het
Or52r1c	C	A	7: 102,734,957 (GRCm39)	D72E	probably damaging	Het
Or8b49	T	A	9: 38,505,939 (GRCm39)	C141S	probably damaging	Het
Or9s27	A	G	1: 92,516,535 (GRCm39)	N161S	probably benign	Het
Padi6	A	G	4: 140,462,700 (GRCm39)	L307P	probably damaging	Het
Pafah1b1	G	A	11: 74,581,058 (GRCm39)	S57F	probably damaging	Het
Prcd	A	G	11: 116,550,637 (GRCm39)	E103G	possibly damaging	Het
Prkx	A	T	X: 76,814,881 (GRCm39)	F260I	probably damaging	Het
Rad54l2	A	G	9: 106,631,142 (GRCm39)		probably null	Het
Rb1cc1	T	A	1: 6,319,590 (GRCm39)	M1003K	probably benign	Het
Scap	A	T	9: 110,203,093 (GRCm39)	M256L	probably benign	Het
Sema4c	C	T	1: 36,588,960 (GRCm39)	R722H	possibly damaging	Het
Septin4	T	C	11: 87,458,070 (GRCm39)	V148A	possibly damaging	Het
Sgk1	C	T	10: 21,872,500 (GRCm39)	R171W	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Tmem120b	T	A	5: 123,252,167 (GRCm39)	I146N	probably damaging	Het
Ttc23l	A	G	15: 10,547,318 (GRCm39)	F99L	possibly damaging	Het
Ube3a	T	A	7: 58,926,267 (GRCm39)	C348*	probably null	Het
Ubr4	T	A	4: 139,149,166 (GRCm39)	D1777E	probably benign	Het
Unc79	C	A	12: 103,079,476 (GRCm39)	D1880E	probably damaging	Het
Usp36	C	T	11: 118,167,585 (GRCm39)		probably null	Het
Zswim9	T	C	7: 13,011,196 (GRCm39)	T51A	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
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
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

Posted On

2017-05-11