Incidental Mutation 'IGL02379:Spata7'
ID291266
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata7
Ensembl Gene ENSMUSG00000021007
Gene Namespermatogenesis associated 7
SynonymsB230306G18Rik, HSD3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.155) question?
Stock #IGL02379
Quality Score
Status
Chromosome12
Chromosomal Location98628157-98669815 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 98634260 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 44 (T44I)
Ref Sequence ENSEMBL: ENSMUSP00000098704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048402] [ENSMUST00000101144] [ENSMUST00000101146]
Predicted Effect probably damaging
Transcript: ENSMUST00000048402
AA Change: T44I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045827
Gene: ENSMUSG00000021007
AA Change: T44I

DomainStartEndE-ValueType
Pfam:HSD3 9 410 1e-190 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101144
AA Change: T44I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098704
Gene: ENSMUSG00000021007
AA Change: T44I

DomainStartEndE-ValueType
Pfam:HSD3 6 131 7.5e-73 PFAM
Pfam:HSD3 122 244 6e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101146
SMART Domains Protein: ENSMUSP00000098705
Gene: ENSMUSG00000021007

DomainStartEndE-ValueType
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: ENSMUST00000222195
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222378
Coding Region Coverage
Validation Efficiency
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,622,043 I996F probably damaging Het
Adamts9 T A 6: 92,797,033 D1133V probably damaging Het
Adi1 T A 12: 28,679,467 D106E probably damaging Het
Agl A G 3: 116,779,091 F837S probably damaging Het
Alb T A 5: 90,465,879 D207E probably benign Het
Alms1 T G 6: 85,629,633 V2286G probably damaging Het
Alpl G A 4: 137,742,558 A485V probably damaging Het
Antxrl C A 14: 34,056,535 probably null Het
Apc C T 18: 34,298,745 T417I probably benign Het
Ash2l T C 8: 25,822,771 D390G probably damaging Het
Asph G A 4: 9,474,980 P582S probably damaging Het
Bcr T A 10: 75,157,148 L825Q probably benign Het
Bhlha15 T A 5: 144,191,341 N90K probably damaging Het
Cgnl1 T A 9: 71,645,553 Y1043F possibly damaging Het
Chek1 T C 9: 36,723,946 D47G probably benign Het
Clca4b T A 3: 144,921,858 M451L probably benign Het
Csnk1g3 T C 18: 53,933,492 S346P probably benign Het
Cspg4 G T 9: 56,892,609 probably benign Het
Ctr9 A G 7: 111,051,519 K884E probably damaging Het
Cyld T A 8: 88,744,928 C813* probably null Het
Fn3k A T 11: 121,435,124 T46S probably benign Het
Foxred1 T C 9: 35,209,986 R89G probably benign Het
Gpr174 T C X: 107,293,478 F299L probably damaging Het
Hdac7 T C 15: 97,808,385 D312G probably damaging Het
Il1f8 A G 2: 24,154,638 S17G probably benign Het
Kcna5 G T 6: 126,534,509 P219T probably damaging Het
Kcnh2 A C 5: 24,326,638 V425G probably damaging Het
Klk5 A G 7: 43,850,822 N278S probably damaging Het
Mars2 T A 1: 55,238,053 W272R probably damaging Het
Msl3l2 C A 10: 56,115,921 S247R possibly damaging Het
Myh7 T C 14: 54,979,468 E1144G probably damaging Het
Nefm T C 14: 68,120,239 probably benign Het
Nwd2 A G 5: 63,805,301 K743E probably damaging Het
Nyap2 C T 1: 81,087,430 T53I probably damaging Het
Olfr1124 T C 2: 87,435,324 V279A probably benign Het
Olfr617 T C 7: 103,584,892 V290A possibly damaging Het
Peli2 A G 14: 48,168,298 H60R probably damaging Het
Pias2 T A 18: 77,145,148 probably benign Het
Pik3c2b A G 1: 133,094,791 D1157G probably damaging Het
Pip4k2a C T 2: 18,866,111 probably null Het
Raf1 A T 6: 115,644,548 D23E probably benign Het
Rhox10 G A X: 38,066,856 R87H probably benign Het
Rpgrip1 A G 14: 52,138,888 T449A possibly damaging Het
Serpina3a T A 12: 104,118,660 S105T probably benign Het
Slc12a9 T G 5: 137,321,429 Q608P probably damaging Het
Smg6 C A 11: 75,053,925 P167T probably damaging Het
Spink12 C T 18: 44,106,508 probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stag2 C T X: 42,250,597 T754I probably benign Het
Supt6 C T 11: 78,225,369 V723M possibly damaging Het
Ttc25 A T 11: 100,566,983 N471Y possibly damaging Het
Ubr3 A G 2: 69,948,488 D614G possibly damaging Het
Vps39 T A 2: 120,323,608 K624N probably benign Het
Vwa5b1 A T 4: 138,612,859 L29Q probably damaging Het
Wtap G A 17: 12,969,449 A188V probably benign Het
Zc3hc1 A G 6: 30,390,975 F5L probably benign Het
Zfp655 C T 5: 145,243,955 P208S probably benign Het
Zswim3 A T 2: 164,820,682 probably null Het
Other mutations in Spata7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00535:Spata7 APN 12 98668840 missense probably damaging 1.00
IGL02283:Spata7 APN 12 98658258 missense probably damaging 0.96
R0200:Spata7 UTSW 12 98663169 missense probably benign 0.32
R0422:Spata7 UTSW 12 98658265 missense probably damaging 0.99
R0847:Spata7 UTSW 12 98648430 missense possibly damaging 0.82
R1228:Spata7 UTSW 12 98634269 missense probably damaging 1.00
R1497:Spata7 UTSW 12 98668861 missense probably damaging 1.00
R1693:Spata7 UTSW 12 98664257 missense possibly damaging 0.85
R2183:Spata7 UTSW 12 98637612 missense probably damaging 1.00
R2507:Spata7 UTSW 12 98658450 missense probably benign
R3176:Spata7 UTSW 12 98637598 missense possibly damaging 0.78
R3177:Spata7 UTSW 12 98637598 missense possibly damaging 0.78
R3276:Spata7 UTSW 12 98637598 missense possibly damaging 0.78
R3277:Spata7 UTSW 12 98637598 missense possibly damaging 0.78
R3951:Spata7 UTSW 12 98669473 missense probably damaging 0.98
R4698:Spata7 UTSW 12 98664277 missense probably damaging 1.00
R4919:Spata7 UTSW 12 98648453 missense possibly damaging 0.65
R5088:Spata7 UTSW 12 98669502 missense probably benign 0.43
R5583:Spata7 UTSW 12 98669331 missense probably damaging 0.98
R6414:Spata7 UTSW 12 98663220 critical splice donor site probably null
R6451:Spata7 UTSW 12 98658337 missense probably benign 0.02
R7167:Spata7 UTSW 12 98664296 missense probably damaging 1.00
R7316:Spata7 UTSW 12 98658612 missense probably damaging 1.00
Posted On2015-04-16