Incidental Mutation 'R3951:Spata7'
ID 307959
Institutional Source Beutler Lab
Gene Symbol Spata7
Ensembl Gene ENSMUSG00000021007
Gene Name spermatogenesis associated 7
Synonyms B230306G18Rik, HSD3
MMRRC Submission 040828-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R3951 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 98594416-98636074 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98635732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 517 (D517E)
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: D517E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045827
Gene: ENSMUSG00000021007
AA Change: D517E

DomainStartEndE-ValueType
Pfam:HSD3 9 410 1e-190 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000101144
AA Change: D350E
SMART Domains Protein: ENSMUSP00000098704
Gene: ENSMUSG00000021007
AA Change: D350E

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: D485E

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000098705
Gene: ENSMUSG00000021007
AA Change: D485E

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (55/55)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,451,158 (GRCm39) probably benign Het
4932414N04Rik T C 2: 68,494,747 (GRCm39) probably null Het
Akr1c18 C T 13: 4,185,284 (GRCm39) V283I probably benign Het
Atp2b2 T A 6: 113,737,792 (GRCm39) M861L possibly damaging Het
Cdh23 T C 10: 60,493,105 (GRCm39) Y3C probably benign Het
Clspn A G 4: 126,470,172 (GRCm39) E814G probably damaging Het
Csgalnact1 T C 8: 68,913,914 (GRCm39) Q97R probably benign Het
Dera A G 6: 137,814,118 (GRCm39) Y100C probably damaging Het
Ect2 A T 3: 27,184,269 (GRCm39) D517E probably benign Het
Epha4 A T 1: 77,376,353 (GRCm39) Y509N probably damaging Het
Fat2 T C 11: 55,187,208 (GRCm39) T1213A probably benign Het
Fkbp8 T A 8: 70,985,311 (GRCm39) L275Q probably damaging Het
Gabrb2 A G 11: 42,517,708 (GRCm39) Y510C probably damaging Het
Gda T C 19: 21,449,809 (GRCm39) T16A probably benign Het
Ggcx G A 6: 72,403,541 (GRCm39) G363R probably benign Het
Gm527 T G 12: 64,970,276 (GRCm39) probably benign Het
Hoxb2 A G 11: 96,244,001 (GRCm39) E204G probably damaging Het
Hsd17b11 G A 5: 104,140,803 (GRCm39) probably benign Het
Kat14 T C 2: 144,249,249 (GRCm39) probably benign Het
Kif16b C T 2: 142,549,279 (GRCm39) V1079I probably benign Het
Klhl29 T A 12: 5,190,660 (GRCm39) S112C probably damaging Het
Lpcat2 G T 8: 93,591,531 (GRCm39) M58I probably benign Het
Lrrc8d G T 5: 105,962,142 (GRCm39) V851F probably benign Het
Ltbp3 T C 19: 5,806,029 (GRCm39) V929A probably damaging Het
Map3k20 T G 2: 72,268,644 (GRCm39) I550M probably damaging Het
Map3k9 T C 12: 81,769,295 (GRCm39) M941V probably benign Het
Myom2 A T 8: 15,134,556 (GRCm39) Y453F probably benign Het
Ncapd2 T C 6: 125,163,747 (GRCm39) K78E probably damaging Het
Ncor2 G T 5: 125,109,320 (GRCm39) D1496E possibly damaging Het
Ndnf T C 6: 65,680,125 (GRCm39) Y135H possibly damaging Het
Ndst1 T C 18: 60,830,211 (GRCm39) N633S probably benign Het
Nmur2 G C 11: 55,931,051 (GRCm39) P220R probably damaging Het
Nsd1 G C 13: 55,416,267 (GRCm39) E1438Q probably benign Het
Or5al7 G T 2: 85,992,962 (GRCm39) C110* probably null Het
Or5w10 T C 2: 87,375,409 (GRCm39) T160A probably damaging Het
Or8g2 A T 9: 39,822,021 (GRCm39) R307S probably benign Het
Or9s23 T A 1: 92,501,511 (GRCm39) M206K possibly damaging Het
Pom121l2 T G 13: 22,166,298 (GRCm39) S190A probably damaging Het
Prb1b G A 6: 132,289,657 (GRCm39) P56S unknown Het
Rtn4ip1 T A 10: 43,785,893 (GRCm39) probably null Het
Scarb1 A C 5: 125,364,475 (GRCm39) C85G probably damaging Het
Sh2d4b A G 14: 40,594,503 (GRCm39) I159T probably damaging Het
Skic3 T G 13: 76,278,338 (GRCm39) L551V probably damaging Het
Sntg1 C T 1: 8,853,125 (GRCm39) probably benign Het
Sos1 G A 17: 80,731,610 (GRCm39) T630I probably damaging Het
Tcaf1 T C 6: 42,655,993 (GRCm39) T328A probably benign Het
Ticrr T C 7: 79,331,817 (GRCm39) L776S probably damaging Het
Trpc2 T A 7: 101,742,781 (GRCm39) M597K probably damaging Het
Tubb3 C A 8: 124,148,003 (GRCm39) T312N probably damaging Het
Ubr4 G A 4: 139,120,405 (GRCm39) V277M probably damaging Het
Uhrf2 G A 19: 30,057,261 (GRCm39) R473Q probably damaging Het
Vmn2r43 T A 7: 8,258,319 (GRCm39) H298L probably benign 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
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
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'- GAAACAGTGAGTCACCACGAGC -3'
(R):5'- TTCCCATGATTCGTAGAGTCG -3'

Sequencing Primer
(F):5'- AGGCCCTGGACATGCTGTC -3'
(R):5'- CCCATGATTCGTAGAGTCGATAATTC -3'
Posted On 2015-04-17