Incidental Mutation 'R1693:Spata7'
ID 191955
Institutional Source Beutler Lab
Gene Symbol Spata7
Ensembl Gene ENSMUSG00000021007
Gene Name spermatogenesis associated 7
Synonyms B230306G18Rik, HSD3
MMRRC Submission 039726-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R1693 (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 98630516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 358 (M358K)
Ref Sequence ENSEMBL: ENSMUSP00000045827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048402] [ENSMUST00000101144] [ENSMUST00000101146]
AlphaFold Q80VP2
Predicted Effect possibly damaging
Transcript: ENSMUST00000048402
AA Change: M358K

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045827
Gene: ENSMUSG00000021007
AA Change: M358K

DomainStartEndE-ValueType
Pfam:HSD3 9 410 1e-190 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000101144
AA Change: M191K
SMART Domains Protein: ENSMUSP00000098704
Gene: ENSMUSG00000021007
AA Change: M191K

DomainStartEndE-ValueType
Pfam:HSD3 6 131 7.5e-73 PFAM
Pfam:HSD3 122 244 6e-63 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000101146
AA Change: M326K

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000098705
Gene: ENSMUSG00000021007
AA Change: M326K

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.2%
  • 20x: 92.2%
Validation Efficiency 96% (69/72)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 A G 11: 53,287,380 (GRCm39) D378G probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Aox1 T C 1: 58,124,701 (GRCm39) Y981H probably damaging Het
Arfgap2 T A 2: 91,100,420 (GRCm39) probably null Het
Ccnf TGGGGG TGGGGGGG 17: 24,445,514 (GRCm39) probably null Het
Cd53 T C 3: 106,676,205 (GRCm39) N54S possibly damaging Het
Cep152 C A 2: 125,408,174 (GRCm39) A1390S probably benign Het
Cfap91 A G 16: 38,162,085 (GRCm39) Y19H probably benign Het
Chd7 T C 4: 8,864,307 (GRCm39) probably null Het
Chrm5 A G 2: 112,309,625 (GRCm39) L497P probably damaging Het
Colec12 G A 18: 9,866,765 (GRCm39) V659M unknown Het
Creb3 C A 4: 43,566,755 (GRCm39) H390Q probably damaging Het
D1Pas1 T C 1: 186,700,226 (GRCm39) F52L probably benign Het
D5Ertd579e A G 5: 36,771,441 (GRCm39) F985L probably damaging Het
Dock4 C T 12: 40,884,721 (GRCm39) P1742S probably benign Het
Ehmt2 G T 17: 35,125,386 (GRCm39) V534L possibly damaging Het
Epcam A G 17: 87,947,324 (GRCm39) D26G probably benign Het
F2 C T 2: 91,459,524 (GRCm39) V420M probably damaging Het
Fbxw16 A T 9: 109,265,327 (GRCm39) D401E possibly damaging Het
Fiz1 T C 7: 5,011,727 (GRCm39) T264A probably benign Het
Fsbp T C 4: 11,583,745 (GRCm39) V148A probably benign Het
Furin A G 7: 80,042,230 (GRCm39) L455P probably damaging Het
Ggt7 G A 2: 155,348,395 (GRCm39) R10W probably damaging Het
Gucy2g T C 19: 55,211,358 (GRCm39) E624G probably damaging Het
Igf2r A G 17: 12,923,203 (GRCm39) F1202S probably damaging Het
Ikzf1 C T 11: 11,657,838 (GRCm39) P32S probably damaging Het
Itgal G A 7: 126,904,453 (GRCm39) V309M probably damaging Het
Kcnk5 C A 14: 20,191,964 (GRCm39) R399L probably damaging Het
Kdm5b C T 1: 134,525,314 (GRCm39) probably benign Het
Lrp2 C T 2: 69,340,762 (GRCm39) V1038M probably damaging Het
Lrp4 T C 2: 91,322,698 (GRCm39) Y1096H probably damaging Het
Lrrc7 C G 3: 157,790,170 (GRCm39) S1465T possibly damaging Het
Map3k5 A G 10: 19,979,988 (GRCm39) N832S probably damaging Het
Mrtfb C A 16: 13,216,334 (GRCm39) L349I possibly damaging Het
Mrtfb T A 16: 13,216,335 (GRCm39) L349Q probably damaging Het
Myh13 A C 11: 67,232,310 (GRCm39) M495L possibly damaging Het
Myh9 A C 15: 77,697,097 (GRCm39) Y106D probably damaging Het
Naa16 A T 14: 79,588,896 (GRCm39) W452R probably damaging Het
Nsd1 T C 13: 55,395,074 (GRCm39) S892P probably benign Het
Nup205 A G 6: 35,187,906 (GRCm39) I939V probably benign Het
Oit3 A G 10: 59,261,239 (GRCm39) F476S probably damaging Het
Or7e174 T C 9: 20,012,883 (GRCm39) V276A probably benign Het
Panx3 A T 9: 37,580,203 (GRCm39) M50K possibly damaging Het
Panx3 A C 9: 37,580,242 (GRCm39) M37R possibly damaging Het
Pip4p2 T A 4: 14,886,631 (GRCm39) D68E probably benign Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Prkaca T A 8: 84,707,827 (GRCm39) D37E probably benign Het
Prkcq T A 2: 11,259,010 (GRCm39) I310N probably damaging Het
Prrc2c A G 1: 162,546,282 (GRCm39) Y235H probably damaging Het
Ptprj A T 2: 90,280,141 (GRCm39) C1052* probably null Het
Rad52 C A 6: 119,892,996 (GRCm39) P180Q probably damaging Het
Sdhaf3 T A 6: 7,038,964 (GRCm39) D95E probably benign Het
Slitrk6 A G 14: 110,988,360 (GRCm39) I449T probably damaging Het
Tada2a C T 11: 83,972,895 (GRCm39) G178D probably damaging Het
Tap2 G C 17: 34,428,186 (GRCm39) V287L probably benign Het
Tmem200a A G 10: 25,869,877 (GRCm39) F131L possibly damaging Het
Traip A T 9: 107,847,229 (GRCm39) K356M probably damaging Het
Tspan8 T A 10: 115,679,949 (GRCm39) probably benign Het
U2surp A T 9: 95,393,913 (GRCm39) M1K probably null Het
Vars1 A T 17: 35,217,172 (GRCm39) D427E probably benign Het
Vmn1r113 G A 7: 20,521,532 (GRCm39) C108Y probably damaging Het
Vmn2r63 T A 7: 42,577,743 (GRCm39) Q265L probably benign Het
Vps33b T A 7: 79,937,641 (GRCm39) V463E probably damaging Het
Vrtn T C 12: 84,695,429 (GRCm39) S60P probably benign Het
Zfp53 T A 17: 21,729,884 (GRCm39) V639D possibly damaging Het
Zfp964 T A 8: 70,116,800 (GRCm39) S466T possibly 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
R1497:Spata7 UTSW 12 98,635,120 (GRCm39) missense probably damaging 1.00
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'- TCCAACAAGATGAAGTTCTGCTCCG -3'
(R):5'- GGAAGGCTGTCCAGATAGCAAAGATTC -3'

Sequencing Primer
(F):5'- CGTTGGGTGCTAATTTCTCAC -3'
(R):5'- CTGTCCAGATAGCAAAGATTCAATTC -3'
Posted On 2014-05-14