Incidental Mutation 'R5171:Spata22'
List |< first << previous [record 39 of 47] next >> last >|
ID398730
Institutional Source Beutler Lab
Gene Symbol Spata22
Ensembl Gene ENSMUSG00000112920
Gene Namespermatogenesis associated 22
SynonymsLOC380709
MMRRC Submission 042751-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5171 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location73329741-73346044 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 73336208 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 83 (S83T)
Ref Sequence ENSEMBL: ENSMUSP00000113799 (fasta)
Predicted Effect probably damaging
Transcript: ENSMUST00000092926
AA Change: S83T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000117445
AA Change: S83T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.2 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (52/52)
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit male and female infertility associated with arrested meiosis in germ cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C A 1: 130,742,847 Q269K probably benign Het
Acad9 T A 3: 36,074,398 I136N possibly damaging Het
Adtrp A G 13: 41,777,563 S183P probably damaging Het
Atp11b C T 3: 35,832,937 T690I probably damaging Het
Bcl2l12 G A 7: 44,991,394 probably benign Het
Btnl7-ps T A 17: 34,533,529 noncoding transcript Het
Ccl12 T C 11: 82,102,634 C33R probably damaging Het
Cdc25a T A 9: 109,877,161 S57R probably benign Het
Coro2a T A 4: 46,542,372 probably benign Het
Cpne6 T C 14: 55,512,148 V55A possibly damaging Het
Ddn A G 15: 98,806,326 S362P possibly damaging Het
Dmpk C G 7: 19,088,019 L301V probably benign Het
Dnase1l1 C T X: 74,277,038 probably null Het
Donson A G 16: 91,681,293 V258A possibly damaging Het
Gm3336 G A 8: 70,721,875 V163I probably benign Het
Gm8765 A T 13: 50,700,378 T91S possibly damaging Het
Gper1 C T 5: 139,426,658 R253C probably damaging Het
Gpsm1 T A 2: 26,327,464 probably benign Het
Hip1 A G 5: 135,440,302 S251P probably damaging Het
Ifi214 A G 1: 173,526,634 S157P possibly damaging Het
Igkv4-80 A C 6: 69,016,665 S81A probably benign Het
Kntc1 T C 5: 123,799,844 V1535A probably benign Het
Mbd3l1 A G 9: 18,485,134 N185S probably benign Het
Mnx1 T C 5: 29,474,853 Q252R unknown Het
Mroh3 A T 1: 136,191,656 L463Q possibly damaging Het
Myom1 T C 17: 71,099,972 V1030A possibly damaging Het
Olfr1134 T G 2: 87,656,544 I126L possibly damaging Het
Olfr411 T C 11: 74,346,814 T257A probably benign Het
Olfr988 T C 2: 85,353,770 D52G probably benign Het
Otx1 C A 11: 21,997,037 A91S probably damaging Het
Ranbp17 A G 11: 33,217,419 Y1015H probably benign Het
Rasal1 C T 5: 120,663,764 T256I probably benign Het
Rexo5 T A 7: 119,823,779 I278N probably damaging Het
Rims2 T A 15: 39,437,103 S77T probably damaging Het
Sdk2 C T 11: 113,850,982 A804T probably benign Het
Slc24a2 T A 4: 86,996,634 I589F probably benign Het
Slc25a38 T A 9: 120,122,115 I217K probably benign Het
Slc5a7 T C 17: 54,276,676 T529A probably benign Het
Stac2 A T 11: 98,043,498 C127S possibly damaging Het
Tep1 T C 14: 50,824,802 H2531R probably benign Het
Tmem151a G T 19: 5,082,033 R382S probably damaging Het
Trim60 T C 8: 65,000,524 T358A probably benign Het
Unc13c T A 9: 73,757,954 M1048L probably benign Het
Usp29 T C 7: 6,962,075 S306P probably damaging Het
Zfp26 T C 9: 20,444,907 K35R probably benign Het
Zfp462 T A 4: 55,016,986 probably null Het
Other mutations in Spata22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02016:Spata22 APN 11 73336031 missense possibly damaging 0.49
IGL02833:Spata22 APN 11 73343743 missense probably benign 0.00
R0147:Spata22 UTSW 11 73331153 start codon destroyed probably null 1.00
R0304:Spata22 UTSW 11 73340449 nonsense probably null
R1855:Spata22 UTSW 11 73340559 missense probably benign 0.00
R1967:Spata22 UTSW 11 73331127 unclassified probably benign
R2073:Spata22 UTSW 11 73336226 missense possibly damaging 0.81
R2087:Spata22 UTSW 11 73340253 missense probably benign 0.11
R2196:Spata22 UTSW 11 73345834 missense probably benign 0.04
R2256:Spata22 UTSW 11 73340475 missense possibly damaging 0.50
R2509:Spata22 UTSW 11 73345767 missense probably damaging 1.00
R2849:Spata22 UTSW 11 73353745 nonsense probably null
R2883:Spata22 UTSW 11 73344678 missense possibly damaging 0.47
R3236:Spata22 UTSW 11 73345887 missense probably damaging 1.00
R3237:Spata22 UTSW 11 73345887 missense probably damaging 1.00
R4560:Spata22 UTSW 11 73345759 missense probably damaging 1.00
R4755:Spata22 UTSW 11 73345756 missense probably damaging 1.00
R5893:Spata22 UTSW 11 73336247 nonsense probably null
R6401:Spata22 UTSW 11 73333354 missense probably damaging 1.00
R6493:Spata22 UTSW 11 73353746 makesense probably null
R6496:Spata22 UTSW 11 73340363 missense probably damaging 0.99
R6647:Spata22 UTSW 11 73354700 utr 3 prime probably null
R6838:Spata22 UTSW 11 73345933 missense probably benign
R7099:Spata22 UTSW 11 73340399 missense probably benign
R7396:Spata22 UTSW 11 73345876 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGTGAATCCAGAGGTGGCTC -3'
(R):5'- TTTCATAGATCAAAGCAAACTACAGA -3'

Sequencing Primer
(F):5'- GTGGCTCCTTTAAAGAAAACAGTG -3'
(R):5'- GTATACAGGAAGGTATACATAGATT -3'
Posted On2016-07-06