Incidental Mutation 'R9613:Spata16'
ID 724366
Institutional Source Beutler Lab
Gene Symbol Spata16
Ensembl Gene ENSMUSG00000039335
Gene Name spermatogenesis associated 16
Synonyms spermatogenesis-related protein, 4921511F01Rik, 4930503K02Rik, Nyd-sp12
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R9613 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 26637620-26983212 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 26878665 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 347 (V347M)
Ref Sequence ENSEMBL: ENSMUSP00000043378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047005] [ENSMUST00000108305]
AlphaFold Q8C636
Predicted Effect probably damaging
Transcript: ENSMUST00000047005
AA Change: V347M

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043378
Gene: ENSMUSG00000039335
AA Change: V347M

DomainStartEndE-ValueType
Pfam:NYD-SP12_N 5 569 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108305
AA Change: V347M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103941
Gene: ENSMUSG00000039335
AA Change: V347M

DomainStartEndE-ValueType
Pfam:NYD-SP12_N 1 534 N/A PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G A 3: 138,065,365 R105H probably damaging Het
Baz2b A T 2: 59,901,480 N2071K probably benign Het
Chd9 C A 8: 90,956,522 S530* probably null Het
Col6a6 G A 9: 105,739,202 H1558Y probably benign Het
Cyp7a1 A G 4: 6,272,587 F209L probably damaging Het
D430041D05Rik A G 2: 104,230,392 Y702H probably benign Het
Ddx46 T A 13: 55,639,936 probably null Het
Dgat2 C G 7: 99,182,485 G10R probably benign Het
Dync2h1 T A 9: 7,075,769 M3033L probably damaging Het
Eef1g A G 19: 8,977,654 N367S probably benign Het
Eef2kmt T G 16: 5,249,408 E94A possibly damaging Het
Ermp1 C A 19: 29,639,856 probably null Het
Ewsr1 A C 11: 5,078,924 D346E unknown Het
Fam227a G A 15: 79,634,083 T340M probably benign Het
Fxr1 G A 3: 34,046,203 V104I probably benign Het
Gm12394 A G 4: 42,792,992 V380A probably benign Het
Gm6176 A G 7: 22,051,104 V134A possibly damaging Het
Igdcc4 G A 9: 65,120,240 V195I possibly damaging Het
Ighv2-5 A G 12: 113,685,569 I88T Het
Irf8 A T 8: 120,754,468 T355S probably benign Het
Kif20b T A 19: 34,942,534 S751T possibly damaging Het
Kitl A G 10: 100,080,919 N195D probably damaging Het
Kmt2d CTGTTG CTG 15: 98,845,176 probably benign Het
Macf1 A G 4: 123,526,495 F322S probably benign Het
Map6 T C 7: 99,269,177 S386P possibly damaging Het
Nup214 A G 2: 32,011,023 D906G possibly damaging Het
Oacyl A C 18: 65,731,453 T356P probably damaging Het
Olfr388-ps1 A T 11: 73,724,813 D70E probably damaging Het
Olfr521 A G 7: 99,767,329 T56A probably benign Het
Plekha1 C A 7: 130,877,758 P2H probably damaging Het
Plekhg4 T A 8: 105,380,988 D1050E probably damaging Het
Plxnb2 T C 15: 89,164,293 T638A probably benign Het
Pole4 T C 6: 82,652,118 Q89R probably benign Het
Prg4 T C 1: 150,455,909 T338A unknown Het
Prpf3 G A 3: 95,851,619 R74* probably null Het
Prss44 C A 9: 110,814,738 A150E probably damaging Het
Prss51 T A 14: 64,095,012 V2E possibly damaging Het
Ptpn12 A G 5: 20,998,623 Y386H probably damaging Het
Sept4 A T 11: 87,578,997 H3L possibly damaging Het
Spinkl T A 18: 44,168,145 Y42F probably damaging Het
Suds3 A T 5: 117,105,169 M168K possibly damaging Het
Tdrd6 A G 17: 43,628,627 I510T probably damaging Het
Tnfrsf22 T C 7: 143,644,846 H44R probably benign Het
Trh G A 6: 92,242,859 R159* probably null Het
Ubr4 C A 4: 139,421,762 S457R Het
Usp54 T C 14: 20,550,370 Y1433C probably damaging Het
Vmn1r120 G A 7: 21,053,121 L222F probably benign Het
Vmn2r22 T C 6: 123,638,116 I172V probably damaging Het
Vmn2r84 A G 10: 130,390,722 S416P probably damaging Het
Wapl T C 14: 34,731,563 V855A probably benign Het
Zmynd19 A G 2: 24,958,205 I177V Het
Zscan4e G A 7: 11,306,971 Q325* probably null Het
Other mutations in Spata16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Spata16 APN 3 26924262 missense probably damaging 0.98
IGL01017:Spata16 APN 3 26840722 missense possibly damaging 0.93
IGL01129:Spata16 APN 3 26913184 splice site probably benign
IGL01330:Spata16 APN 3 26914715 missense probably damaging 0.99
IGL02033:Spata16 APN 3 26913334 critical splice donor site probably null
IGL02069:Spata16 APN 3 26732795 nonsense probably null
IGL02231:Spata16 APN 3 26913264 missense probably damaging 1.00
R0084:Spata16 UTSW 3 26667410 missense possibly damaging 0.95
R0109:Spata16 UTSW 3 26913267 missense probably damaging 0.97
R0109:Spata16 UTSW 3 26913267 missense probably damaging 0.97
R0325:Spata16 UTSW 3 26667456 missense probably damaging 0.98
R0811:Spata16 UTSW 3 26913338 splice site probably benign
R2061:Spata16 UTSW 3 26924370 missense probably damaging 0.99
R3148:Spata16 UTSW 3 26878712 critical splice donor site probably null
R4837:Spata16 UTSW 3 26732932 missense possibly damaging 0.93
R4972:Spata16 UTSW 3 26840723 missense possibly damaging 0.93
R5129:Spata16 UTSW 3 26667564 missense probably damaging 0.98
R5235:Spata16 UTSW 3 26667632 missense probably benign 0.00
R5458:Spata16 UTSW 3 26777537 missense probably damaging 0.99
R6578:Spata16 UTSW 3 26667548 nonsense probably null
R7069:Spata16 UTSW 3 26927334 missense probably damaging 0.99
R7256:Spata16 UTSW 3 26667867 missense probably benign 0.25
R7936:Spata16 UTSW 3 26667423 missense possibly damaging 0.71
R8015:Spata16 UTSW 3 26667659 missense probably benign
R8060:Spata16 UTSW 3 26840720 missense probably damaging 0.99
R8161:Spata16 UTSW 3 26840662 missense probably benign 0.16
R8459:Spata16 UTSW 3 26667527 missense probably benign
R9215:Spata16 UTSW 3 26667845 nonsense probably null
R9249:Spata16 UTSW 3 26732881 missense possibly damaging 0.92
R9413:Spata16 UTSW 3 26924337 missense possibly damaging 0.71
R9512:Spata16 UTSW 3 26667944 missense possibly damaging 0.81
R9690:Spata16 UTSW 3 26913283 missense probably damaging 1.00
R9797:Spata16 UTSW 3 26914776 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GGGTACAGGTGGCTATTTACAAAC -3'
(R):5'- TGTTGAAAGGAAAGCTAGCTCTAC -3'

Sequencing Primer
(F):5'- AAGAGCAAAATATGTTATCTTTGCTG -3'
(R):5'- AGGAAAGCTAGCTCTACTTAAAGTC -3'
Posted On 2022-09-12