Incidental Mutation 'IGL01524:Spats2'
ID 89510
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spats2
Ensembl Gene ENSMUSG00000051934
Gene Name spermatogenesis associated, serine-rich 2
Synonyms p59, 59kDa, 2700012F11Rik, Scr59
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.364) question?
Stock # IGL01524
Quality Score
Status
Chromosome 15
Chromosomal Location 99023797-99111096 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 99110127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 508 (A508V)
Ref Sequence ENSEMBL: ENSMUSP00000070549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063517]
AlphaFold Q8K1N4
Predicted Effect probably benign
Transcript: ENSMUST00000063517
AA Change: A508V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000070549
Gene: ENSMUSG00000051934
AA Change: A508V

DomainStartEndE-ValueType
Pfam:DUF1387 81 385 8.1e-125 PFAM
low complexity region 391 413 N/A INTRINSIC
low complexity region 517 528 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat A T 8: 60,969,106 (GRCm39) D117V probably damaging Het
Abca14 T C 7: 119,852,644 (GRCm39) Y870H possibly damaging Het
Ankrd36 T C 11: 5,585,092 (GRCm39) I301T probably benign Het
Atp10b T A 11: 43,150,672 (GRCm39) S1457T probably benign Het
Bltp1 A G 3: 36,996,531 (GRCm39) D1081G possibly damaging Het
Ccdc175 G A 12: 72,177,916 (GRCm39) probably benign Het
Ccdc93 A G 1: 121,389,628 (GRCm39) K224E probably benign Het
Cep131 C T 11: 119,956,786 (GRCm39) A886T probably damaging Het
Clip1 A C 5: 123,717,442 (GRCm39) H1282Q probably damaging Het
Ctcfl T G 2: 172,959,177 (GRCm39) D183A probably benign Het
Cyp17a1 C T 19: 46,659,495 (GRCm39) V112I probably benign Het
Fhod3 T C 18: 25,263,659 (GRCm39) I1521T probably damaging Het
Gipc2 A G 3: 151,843,214 (GRCm39) I141T probably damaging Het
Glo1 T C 17: 30,815,393 (GRCm39) R141G possibly damaging Het
Ipmk C A 10: 71,208,631 (GRCm39) A140E probably damaging Het
Kynu A G 2: 43,561,394 (GRCm39) D310G possibly damaging Het
Myo1f T A 17: 33,798,857 (GRCm39) I174N probably damaging Het
Nat10 T A 2: 103,588,102 (GRCm39) N8Y probably damaging Het
Nhlrc2 A G 19: 56,564,587 (GRCm39) I304V probably benign Het
Pdk4 T C 6: 5,491,979 (GRCm39) H31R probably damaging Het
Sema6d T C 2: 124,505,995 (GRCm39) V644A possibly damaging Het
Slc30a4 T A 2: 122,544,308 (GRCm39) K11N possibly damaging Het
Slc6a3 T C 13: 73,686,668 (GRCm39) S12P probably benign Het
Tinag A G 9: 76,952,820 (GRCm39) Y55H probably damaging Het
Topbp1 T C 9: 103,188,844 (GRCm39) I172T possibly damaging Het
Trim17 A G 11: 58,861,423 (GRCm39) T279A probably damaging Het
Vmn1r216 C A 13: 23,283,519 (GRCm39) N67K probably benign Het
Washc4 T C 10: 83,411,996 (GRCm39) L709P probably benign Het
Xdh T C 17: 74,230,132 (GRCm39) probably null Het
Zfhx4 C T 3: 5,309,036 (GRCm39) P754L probably damaging Het
Zfp267 T C 3: 36,218,729 (GRCm39) Y251H possibly damaging Het
Zfp623 C A 15: 75,819,528 (GRCm39) S161R probably benign Het
Zmat3 G A 3: 32,395,827 (GRCm39) R227C possibly damaging Het
Other mutations in Spats2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Spats2 APN 15 99,078,474 (GRCm39) missense possibly damaging 0.88
IGL00696:Spats2 APN 15 99,108,775 (GRCm39) missense probably damaging 1.00
IGL02496:Spats2 APN 15 99,071,329 (GRCm39) missense probably damaging 1.00
IGL03031:Spats2 APN 15 99,078,569 (GRCm39) missense probably benign 0.00
R0067:Spats2 UTSW 15 99,110,168 (GRCm39) missense possibly damaging 0.64
R0067:Spats2 UTSW 15 99,110,168 (GRCm39) missense possibly damaging 0.64
R0630:Spats2 UTSW 15 99,083,909 (GRCm39) splice site probably null
R1577:Spats2 UTSW 15 99,076,333 (GRCm39) missense possibly damaging 0.94
R2012:Spats2 UTSW 15 99,076,375 (GRCm39) missense probably damaging 0.97
R2229:Spats2 UTSW 15 99,072,334 (GRCm39) critical splice donor site probably null
R2982:Spats2 UTSW 15 99,108,927 (GRCm39) missense probably benign
R3743:Spats2 UTSW 15 99,108,795 (GRCm39) missense probably benign 0.09
R4679:Spats2 UTSW 15 99,078,603 (GRCm39) missense possibly damaging 0.62
R4857:Spats2 UTSW 15 99,072,301 (GRCm39) missense probably damaging 1.00
R4962:Spats2 UTSW 15 99,110,157 (GRCm39) missense probably benign 0.00
R5291:Spats2 UTSW 15 99,076,422 (GRCm39) missense probably benign 0.16
R6879:Spats2 UTSW 15 99,071,293 (GRCm39) missense probably damaging 1.00
R7187:Spats2 UTSW 15 99,110,054 (GRCm39) missense probably benign 0.02
R7476:Spats2 UTSW 15 99,110,022 (GRCm39) missense probably benign 0.00
R8084:Spats2 UTSW 15 99,064,961 (GRCm39) missense possibly damaging 0.94
R8239:Spats2 UTSW 15 99,106,776 (GRCm39) missense probably damaging 1.00
R8338:Spats2 UTSW 15 99,076,340 (GRCm39) missense probably damaging 1.00
R8979:Spats2 UTSW 15 99,110,123 (GRCm39) missense possibly damaging 0.92
R9013:Spats2 UTSW 15 99,097,128 (GRCm39) missense probably damaging 1.00
R9050:Spats2 UTSW 15 99,110,010 (GRCm39) missense possibly damaging 0.78
R9433:Spats2 UTSW 15 99,076,446 (GRCm39) nonsense probably null
X0062:Spats2 UTSW 15 99,076,413 (GRCm39) nonsense probably null
Posted On 2013-12-03