Incidental Mutation 'IGL01017:Spata16'
ID 53491
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata16
Ensembl Gene ENSMUSG00000039335
Gene Name spermatogenesis associated 16
Synonyms 4930503K02Rik, spermatogenesis-related protein, 4921511F01Rik, Nyd-sp12
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL01017
Quality Score
Status
Chromosome 3
Chromosomal Location 26691769-27037361 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26894871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 307 (I307F)
Ref Sequence ENSEMBL: ENSMUSP00000103941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047005] [ENSMUST00000108305]
AlphaFold Q8C636
Predicted Effect possibly damaging
Transcript: ENSMUST00000047005
AA Change: I307F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043378
Gene: ENSMUSG00000039335
AA Change: I307F

DomainStartEndE-ValueType
Pfam:NYD-SP12_N 5 569 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108305
AA Change: I307F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103941
Gene: ENSMUSG00000039335
AA Change: I307F

DomainStartEndE-ValueType
Pfam:NYD-SP12_N 1 534 N/A PFAM
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 encodes a testis-specific protein that belongs to the tetratricopeptide repeat-like superfamily. The encoded protein localizes to the Golgi apparatus and may play a role in spermatogenesis. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn G A 5: 88,607,218 (GRCm39) A29T probably damaging Het
Ankrd11 T C 8: 123,621,467 (GRCm39) K795R probably damaging Het
Atg3 T C 16: 45,004,174 (GRCm39) probably null Het
Ccdc169 T C 3: 55,078,739 (GRCm39) V200A possibly damaging Het
Cdr2l C A 11: 115,283,564 (GRCm39) Q141K probably damaging Het
Cts3 T A 13: 61,715,988 (GRCm39) I93F probably damaging Het
Eif2ak2 A G 17: 79,171,287 (GRCm39) L372S probably damaging Het
Elovl5 T C 9: 77,888,853 (GRCm39) I240T possibly damaging Het
Farp1 C T 14: 121,510,186 (GRCm39) A728V possibly damaging Het
Fbln1 A G 15: 85,128,390 (GRCm39) D529G possibly damaging Het
Flnb G T 14: 7,917,390 (GRCm38) probably benign Het
Gm14401 A T 2: 176,778,625 (GRCm39) H237L probably damaging Het
Hivep3 T A 4: 119,956,443 (GRCm39) H1586Q probably damaging Het
Igkv12-98 T A 6: 68,548,093 (GRCm39) L74* probably null Het
Iigp1c T A 18: 60,378,508 (GRCm39) D14E possibly damaging Het
Ktn1 T C 14: 47,946,335 (GRCm39) S917P probably benign Het
Lama3 T C 18: 12,574,200 (GRCm39) probably null Het
Lamb1 A G 12: 31,351,063 (GRCm39) D723G possibly damaging Het
Lrrc39 A T 3: 116,364,500 (GRCm39) R130S probably benign Het
Mcm3 A C 1: 20,875,039 (GRCm39) probably null Het
Muc19 T G 15: 91,764,901 (GRCm39) noncoding transcript Het
Necap2 A G 4: 140,794,879 (GRCm39) F266S probably damaging Het
Nfil3 C T 13: 53,122,055 (GRCm39) G283D probably damaging Het
Nlrp4e A T 7: 23,021,092 (GRCm39) K526N possibly damaging Het
Or13a20 A G 7: 140,232,389 (GRCm39) T166A probably benign Het
Or4p7 T A 2: 88,222,245 (GRCm39) V218E possibly damaging Het
Pelp1 G A 11: 70,287,720 (GRCm39) R401W probably damaging Het
Phldb3 G T 7: 24,328,295 (GRCm39) C613F probably damaging Het
Ppp1ca T C 19: 4,243,110 (GRCm39) Y93H probably damaging Het
Ppp1r3b A G 8: 35,851,476 (GRCm39) E105G probably benign Het
Prb1a G T 6: 132,184,194 (GRCm39) Q480K unknown Het
Ryr1 A T 7: 28,781,968 (GRCm39) I2007N probably damaging Het
Scgb1b27 A G 7: 33,721,228 (GRCm39) T39A probably damaging Het
Serpinb3b T C 1: 107,082,187 (GRCm39) D359G probably benign Het
Sgo2b G T 8: 64,379,557 (GRCm39) R1092S probably benign Het
Sh3pxd2b C A 11: 32,353,993 (GRCm39) S187* probably null Het
Slc11a1 T A 1: 74,418,955 (GRCm39) L92H probably damaging Het
Smc3 T C 19: 53,617,758 (GRCm39) V585A probably damaging Het
Sp6 A G 11: 96,913,429 (GRCm39) probably benign Het
Tfpi2 T A 6: 3,965,359 (GRCm39) H33L probably benign Het
Tnxb T A 17: 34,912,782 (GRCm39) D1642E probably damaging Het
Ttc1 T C 11: 43,621,320 (GRCm39) N287S probably damaging Het
Ttc9 G A 12: 81,678,536 (GRCm39) V120I possibly damaging Het
Umps A G 16: 33,787,272 (GRCm39) V27A probably damaging Het
Usp50 C A 2: 126,551,334 (GRCm39) M48I probably damaging Het
Vmn1r76 A T 7: 11,664,309 (GRCm39) C267S possibly damaging Het
Wee1 A T 7: 109,725,055 (GRCm39) D275V possibly damaging Het
Zmym6 C T 4: 126,982,152 (GRCm39) P63L probably benign Het
Other mutations in Spata16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Spata16 APN 3 26,978,411 (GRCm39) missense probably damaging 0.98
IGL01129:Spata16 APN 3 26,967,333 (GRCm39) splice site probably benign
IGL01330:Spata16 APN 3 26,968,864 (GRCm39) missense probably damaging 0.99
IGL02033:Spata16 APN 3 26,967,483 (GRCm39) critical splice donor site probably null
IGL02069:Spata16 APN 3 26,786,944 (GRCm39) nonsense probably null
IGL02231:Spata16 APN 3 26,967,413 (GRCm39) missense probably damaging 1.00
R0084:Spata16 UTSW 3 26,721,559 (GRCm39) missense possibly damaging 0.95
R0109:Spata16 UTSW 3 26,967,416 (GRCm39) missense probably damaging 0.97
R0109:Spata16 UTSW 3 26,967,416 (GRCm39) missense probably damaging 0.97
R0325:Spata16 UTSW 3 26,721,605 (GRCm39) missense probably damaging 0.98
R0811:Spata16 UTSW 3 26,967,487 (GRCm39) splice site probably benign
R2061:Spata16 UTSW 3 26,978,519 (GRCm39) missense probably damaging 0.99
R3148:Spata16 UTSW 3 26,932,861 (GRCm39) critical splice donor site probably null
R4837:Spata16 UTSW 3 26,787,081 (GRCm39) missense possibly damaging 0.93
R4972:Spata16 UTSW 3 26,894,872 (GRCm39) missense possibly damaging 0.93
R5129:Spata16 UTSW 3 26,721,713 (GRCm39) missense probably damaging 0.98
R5235:Spata16 UTSW 3 26,721,781 (GRCm39) missense probably benign 0.00
R5458:Spata16 UTSW 3 26,831,686 (GRCm39) missense probably damaging 0.99
R6578:Spata16 UTSW 3 26,721,697 (GRCm39) nonsense probably null
R7069:Spata16 UTSW 3 26,981,483 (GRCm39) missense probably damaging 0.99
R7256:Spata16 UTSW 3 26,722,016 (GRCm39) missense probably benign 0.25
R7936:Spata16 UTSW 3 26,721,572 (GRCm39) missense possibly damaging 0.71
R8015:Spata16 UTSW 3 26,721,808 (GRCm39) missense probably benign
R8060:Spata16 UTSW 3 26,894,869 (GRCm39) missense probably damaging 0.99
R8161:Spata16 UTSW 3 26,894,811 (GRCm39) missense probably benign 0.16
R8459:Spata16 UTSW 3 26,721,676 (GRCm39) missense probably benign
R9215:Spata16 UTSW 3 26,721,994 (GRCm39) nonsense probably null
R9249:Spata16 UTSW 3 26,787,030 (GRCm39) missense possibly damaging 0.92
R9413:Spata16 UTSW 3 26,978,486 (GRCm39) missense possibly damaging 0.71
R9512:Spata16 UTSW 3 26,722,093 (GRCm39) missense possibly damaging 0.81
R9613:Spata16 UTSW 3 26,932,814 (GRCm39) missense probably damaging 0.99
R9690:Spata16 UTSW 3 26,967,432 (GRCm39) missense probably damaging 1.00
R9797:Spata16 UTSW 3 26,968,925 (GRCm39) missense probably damaging 0.98
Posted On 2013-06-28