Incidental Mutation 'R1497:Spata7'
ID 168987
Institutional Source Beutler Lab
Gene Symbol Spata7
Ensembl Gene ENSMUSG00000021007
Gene Name spermatogenesis associated 7
Synonyms B230306G18Rik, HSD3
MMRRC Submission 039548-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R1497 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 98594416-98636074 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98635120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 384 (I384T)
Ref Sequence ENSEMBL: ENSMUSP00000045827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048402] [ENSMUST00000101144] [ENSMUST00000101146]
AlphaFold Q80VP2
Predicted Effect probably damaging
Transcript: ENSMUST00000048402
AA Change: I384T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045827
Gene: ENSMUSG00000021007
AA Change: I384T

DomainStartEndE-ValueType
Pfam:HSD3 9 410 1e-190 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000101144
AA Change: I217T
SMART Domains Protein: ENSMUSP00000098704
Gene: ENSMUSG00000021007
AA Change: I217T

DomainStartEndE-ValueType
Pfam:HSD3 6 131 7.5e-73 PFAM
Pfam:HSD3 122 244 6e-63 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101146
AA Change: I352T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098705
Gene: ENSMUSG00000021007
AA Change: I352T

DomainStartEndE-ValueType
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 0.2249 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency 99% (79/80)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,864,647 (GRCm39) probably benign Het
Abhd17a A G 10: 80,420,164 (GRCm39) probably benign Het
Acacb G A 5: 114,334,868 (GRCm39) E646K probably damaging Het
Afap1l2 T C 19: 56,916,743 (GRCm39) M262V probably benign Het
Anapc7 T A 5: 122,573,578 (GRCm39) probably benign Het
Car5b T A X: 162,771,400 (GRCm39) K188N probably benign Het
Caskin1 C T 17: 24,723,515 (GRCm39) R768* probably null Het
Casp8ap2 T C 4: 32,639,938 (GRCm39) S331P probably benign Het
Ccdc68 C T 18: 70,093,585 (GRCm39) probably benign Het
Cd44 A T 2: 102,673,300 (GRCm39) probably null Het
Celsr3 A G 9: 108,726,064 (GRCm39) S3090G probably benign Het
Clasp1 A T 1: 118,479,788 (GRCm39) M1023L probably benign Het
Clec16a T C 16: 10,453,123 (GRCm39) F608S probably damaging Het
Col7a1 A C 9: 108,807,893 (GRCm39) E2531A unknown Het
Ctc1 T A 11: 68,913,387 (GRCm39) C128S probably benign Het
Cyp2d41-ps T C 15: 82,666,223 (GRCm39) noncoding transcript Het
Cyp2j6 T A 4: 96,419,898 (GRCm39) I278F probably damaging Het
Dhtkd1 A T 2: 5,908,924 (GRCm39) S723R probably damaging Het
Dhx8 A G 11: 101,626,213 (GRCm39) probably benign Het
Dnah17 A T 11: 118,005,059 (GRCm39) L775Q probably damaging Het
Dnah8 C A 17: 30,971,049 (GRCm39) T2701K probably damaging Het
Eml3 T A 19: 8,913,733 (GRCm39) S424R probably damaging Het
Epm2aip1 A G 9: 111,101,315 (GRCm39) E96G possibly damaging Het
Ezr T C 17: 7,010,107 (GRCm39) H314R probably benign Het
Fam193b G T 13: 55,702,247 (GRCm39) H43Q probably damaging Het
Fam217a T A 13: 35,095,195 (GRCm39) N340I probably damaging Het
Fcrl1 A T 3: 87,292,109 (GRCm39) Q89H probably damaging Het
Flg2 A T 3: 93,127,076 (GRCm39) H1996L unknown Het
Gabpb1 C T 2: 126,481,169 (GRCm39) V327M possibly damaging Het
Gtf3c3 A G 1: 54,477,098 (GRCm39) V36A probably benign Het
Hspg2 A G 4: 137,275,407 (GRCm39) N2739S probably damaging Het
Hyal1 A G 9: 107,455,194 (GRCm39) probably null Het
Ipo13 T C 4: 117,761,856 (GRCm39) D448G probably benign Het
Kcnq5 T C 1: 21,472,610 (GRCm39) D860G possibly damaging Het
Kif13b A G 14: 64,973,715 (GRCm39) N355S probably damaging Het
Kmt2c T A 5: 25,519,513 (GRCm39) H2199L possibly damaging Het
Magi1 A G 6: 93,724,310 (GRCm39) F235S probably damaging Het
Maml1 A C 11: 50,156,534 (GRCm39) M547R possibly damaging Het
Mapk7 T C 11: 61,384,689 (GRCm39) K6E possibly damaging Het
Mbd5 T A 2: 49,147,393 (GRCm39) N534K possibly damaging Het
Mcat G A 15: 83,433,453 (GRCm39) Q34* probably null Het
Mcu T A 10: 59,284,670 (GRCm39) D180V probably damaging Het
Mettl21c G T 1: 44,048,951 (GRCm39) P199T probably benign Het
Mndal A T 1: 173,700,441 (GRCm39) S177T probably benign Het
Mpeg1 G T 19: 12,438,611 (GRCm39) C23F probably benign Het
Mup15 T A 4: 61,356,471 (GRCm39) Y98F probably benign Het
Myh8 T C 11: 67,180,638 (GRCm39) S625P probably benign Het
Nipsnap2 T C 5: 129,830,282 (GRCm39) probably benign Het
Nlrp4e T C 7: 23,019,797 (GRCm39) S95P probably benign Het
Or1e19 T A 11: 73,316,653 (GRCm39) D52V possibly damaging Het
Or4a66 T C 2: 88,531,106 (GRCm39) D189G probably damaging Het
Otop2 A G 11: 115,220,675 (GRCm39) probably null Het
Pcnx4 G C 12: 72,621,174 (GRCm39) G998A probably benign Het
Pnkd C A 1: 74,390,681 (GRCm39) probably null Het
Ppp4r4 T A 12: 103,573,204 (GRCm39) V701E probably benign Het
Ryr2 A G 13: 11,616,727 (GRCm39) I3897T probably damaging Het
Scn1a T C 2: 66,162,631 (GRCm39) E205G probably damaging Het
Sdk2 G A 11: 113,784,401 (GRCm39) probably benign Het
Serpinb5 A T 1: 106,803,782 (GRCm39) Q156L probably benign Het
Setdb1 A T 3: 95,234,778 (GRCm39) V975D probably benign Het
Shc1 A G 3: 89,335,752 (GRCm39) *470W probably null Het
Sik3 T A 9: 46,113,320 (GRCm39) V587E probably damaging Het
Sik3 C A 9: 46,132,387 (GRCm39) H1276Q probably benign Het
Tanc2 T A 11: 105,812,963 (GRCm39) V1469D probably benign Het
Tasor2 T C 13: 3,620,409 (GRCm39) E2164G probably damaging Het
Tdrd5 A T 1: 156,083,372 (GRCm39) N888K probably benign Het
Tex22 T C 12: 113,039,000 (GRCm39) S34P probably benign Het
Tmed6 T C 8: 107,790,754 (GRCm39) T98A probably benign Het
Trim66 G A 7: 109,083,826 (GRCm39) P141L probably benign Het
Trpa1 T C 1: 14,956,036 (GRCm39) I778V probably benign Het
Urb2 T A 8: 124,754,816 (GRCm39) H174Q probably damaging Het
Usb1 T C 8: 96,065,325 (GRCm39) V59A probably benign Het
Vmn1r11 T A 6: 57,114,394 (GRCm39) N19K probably damaging Het
Vmn1r185 A T 7: 26,311,219 (GRCm39) F95L probably benign Het
Vmn1r206 C T 13: 22,805,160 (GRCm39) V16M probably benign Het
Vmn2r92 T C 17: 18,387,625 (GRCm39) V210A probably benign Het
Wdr17 A T 8: 55,125,536 (GRCm39) I448K possibly damaging Het
Zfp768 T A 7: 126,942,733 (GRCm39) Q465L probably damaging Het
Zfp804b T A 5: 6,821,105 (GRCm39) N617Y probably damaging Het
Other mutations in Spata7
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ATGCGTAACAGAAGCCAGGCTG -3'
(R):5'- CTGAGGGTCGTTACATTCGCTACAC -3'

Sequencing Primer
(F):5'- CAGAGCAGGAAGGATTTGTTTC -3'
(R):5'- TCGCTACACTATTAAAACTGAACTC -3'
Posted On 2014-04-13