Mutagenetix > Incidental Mutation

Incidental Mutation 'R5583:Spata7'

438583

Institutional Source

Beutler Lab

Gene Symbol

Spata7

Ensembl Gene

ENSMUSG00000021007

Gene Name

spermatogenesis associated 7

Synonyms

B230306G18Rik, HSD3

MMRRC Submission

043137-MU

Accession Numbers

Essential gene?

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

Stock #

R5583 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98594416-98636074 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98635590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 438 (N438I)

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: N470I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000045827
Gene: ENSMUSG00000021007
AA Change: N470I

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

Predicted Effect

unknown
Transcript: ENSMUST00000101144
AA Change: N303I

SMART Domains

Protein: ENSMUSP00000098704
Gene: ENSMUSG00000021007
AA Change: N303I

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: N438I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098705
Gene: ENSMUSG00000021007
AA Change: N438I

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

Meta Mutation Damage Score

0.4483

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

Validation Efficiency

97% (60/62)

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
A1bg	A	T	15: 60,793,083 (GRCm39)	L8Q	probably damaging	Het
Abca4	T	C	3: 121,942,550 (GRCm39)	V1681A	probably damaging	Het
Abce1	G	T	8: 80,416,922 (GRCm39)	A363E	probably benign	Het
Adgrl2	T	C	3: 148,564,800 (GRCm39)	Y256C	probably damaging	Het
Afm	T	C	5: 90,695,740 (GRCm39)	C416R	probably damaging	Het
Ahnak	T	A	19: 8,984,281 (GRCm39)	V1855D	probably damaging	Het
Alb	A	T	5: 90,616,452 (GRCm39)	H319L	probably benign	Het
Ankrd35	G	T	3: 96,592,219 (GRCm39)	R835L	probably damaging	Het
Atg2b	T	C	12: 105,615,414 (GRCm39)	D1014G	possibly damaging	Het
Cdk6	T	A	5: 3,394,436 (GRCm39)	Y24N	probably damaging	Het
Chd7	T	A	4: 8,752,473 (GRCm39)	N323K	probably damaging	Het
Cops9	A	T	1: 92,567,489 (GRCm39)		probably benign	Het
Crybg1	T	C	10: 43,879,506 (GRCm39)	T561A	probably benign	Het
Dcdc5	T	C	2: 106,195,778 (GRCm39)		noncoding transcript	Het
Dnah7b	G	T	1: 46,281,359 (GRCm39)	A2807S	probably benign	Het
Fam149b	A	G	14: 20,413,368 (GRCm39)	T196A	possibly damaging	Het
Fam217a	C	A	13: 35,094,280 (GRCm39)	C402F	probably damaging	Het
Fat2	A	T	11: 55,144,715 (GRCm39)	V4053E	probably benign	Het
Fcgbp	T	C	7: 27,791,004 (GRCm39)	V755A	probably damaging	Het
Fxr1	C	A	3: 34,123,125 (GRCm39)	S641R	probably benign	Het
Gata5	A	T	2: 179,976,047 (GRCm39)	M39K	probably benign	Het
Gon4l	T	A	3: 88,807,278 (GRCm39)	D1658E	probably damaging	Het
Gpr180	C	T	14: 118,400,110 (GRCm39)	T426M	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Helq	T	C	5: 100,910,459 (GRCm39)	E1039G	probably damaging	Het
Hibch	T	A	1: 52,940,406 (GRCm39)	Y192N	probably damaging	Het
Hp1bp3	A	G	4: 137,949,426 (GRCm39)	I41M	probably damaging	Het
Itpripl2	G	T	7: 118,089,101 (GRCm39)	P486Q	probably benign	Het
Kcnj6	T	C	16: 94,634,060 (GRCm39)	D17G	probably benign	Het
Kprp	T	A	3: 92,731,643 (GRCm39)	Y469F	unknown	Het
Kremen2	T	C	17: 23,961,229 (GRCm39)	T373A	probably benign	Het
Lgi4	A	G	7: 30,760,562 (GRCm39)	Y39C	possibly damaging	Het
Lgr5	T	C	10: 115,314,409 (GRCm39)	D176G	probably benign	Het
Lrp1	T	C	10: 127,424,332 (GRCm39)	S785G	probably benign	Het
Ltbp1	A	T	17: 75,598,325 (GRCm39)	Q920L	probably benign	Het
Map2	A	G	1: 66,455,196 (GRCm39)	E1362G	probably damaging	Het
Nkx2-6	T	C	14: 69,409,272 (GRCm39)	S8P	probably damaging	Het
Or2h1b	T	C	17: 37,462,485 (GRCm39)	Q126R	probably benign	Het
Pde4dip	C	T	3: 97,654,892 (GRCm39)	R888Q	possibly damaging	Het
Per1	A	G	11: 68,994,271 (GRCm39)	H494R	probably damaging	Het
Pira2	A	G	7: 3,845,545 (GRCm39)	F280L	probably benign	Het
Plekhm3	C	T	1: 64,977,145 (GRCm39)	W108*	probably null	Het
Ptcd3	A	G	6: 71,879,920 (GRCm39)	S113P	probably damaging	Het
Scarf1	T	C	11: 75,404,842 (GRCm39)	L42P	possibly damaging	Het
Scart2	G	A	7: 139,876,739 (GRCm39)	C710Y	probably damaging	Het
Skint1	A	C	4: 111,876,253 (GRCm39)	Q58P	probably damaging	Het
Spdya	C	A	17: 71,876,126 (GRCm39)	D164E	probably damaging	Het
Speer3	G	A	5: 13,844,782 (GRCm39)		probably null	Het
Ssc4d	A	T	5: 135,999,050 (GRCm39)	L51H	probably damaging	Het
Steap1	A	G	5: 5,790,579 (GRCm39)	I123T	possibly damaging	Het
Styx	T	A	14: 45,608,483 (GRCm39)	F147I	possibly damaging	Het
Suv39h2	T	A	2: 3,475,890 (GRCm39)		probably benign	Het
Tfb2m	A	G	1: 179,373,446 (GRCm39)	V84A	probably benign	Het
Tlcd1	T	G	11: 78,069,762 (GRCm39)	V25G	probably benign	Het
Tmem79	T	C	3: 88,239,870 (GRCm39)	Y280C	probably damaging	Het
Trim5	T	A	7: 103,926,042 (GRCm39)	N173I	probably damaging	Het
Ttc17	A	T	2: 94,208,027 (GRCm39)	D194E	probably damaging	Het
Zfp2	T	C	11: 50,790,984 (GRCm39)	E353G	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
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
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'- AAAGATGCGCTACCTGCTGC -3'
(R):5'- ATCCACAGAGGTTTCCTGGTC -3'

Sequencing Primer
(F):5'- CTTAGGCTGCATATCTGAGGAAGACC -3'
(R):5'- ACAGAGGTTTCCTGGTCTATTACAC -3'

Posted On

2016-10-26