Incidental Mutation 'IGL00495:Stk31'
ID 14271
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stk31
Ensembl Gene ENSMUSG00000023403
Gene Name serine threonine kinase 31
Synonyms C330007K24Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00495
Quality Score
Status
Chromosome 6
Chromosomal Location 49372538-49446435 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 49414377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 459 (C459S)
Ref Sequence ENSEMBL: ENSMUSP00000132896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024171] [ENSMUST00000163954] [ENSMUST00000172459]
AlphaFold Q99MW1
Predicted Effect probably benign
Transcript: ENSMUST00000024171
AA Change: C504S

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000024171
Gene: ENSMUSG00000023403
AA Change: C504S

DomainStartEndE-ValueType
TUDOR 81 135 1.34e-8 SMART
coiled coil region 298 345 N/A INTRINSIC
Pfam:Pkinase_Tyr 768 932 4.6e-9 PFAM
Pfam:Pkinase 794 973 3.8e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163954
AA Change: C504S

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127545
Gene: ENSMUSG00000023403
AA Change: C504S

DomainStartEndE-ValueType
TUDOR 81 135 1.34e-8 SMART
coiled coil region 298 345 N/A INTRINSIC
Pfam:Pkinase_Tyr 784 922 7.4e-9 PFAM
Pfam:Pkinase 794 940 1.8e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167846
SMART Domains Protein: ENSMUSP00000130561
Gene: ENSMUSG00000023403

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 105 287 1e-6 PFAM
Pfam:Pkinase 184 284 1.9e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172459
AA Change: C459S

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132896
Gene: ENSMUSG00000023403
AA Change: C459S

DomainStartEndE-ValueType
TUDOR 81 135 1.34e-8 SMART
coiled coil region 298 345 N/A INTRINSIC
Pfam:Pkinase_Tyr 739 890 5.2e-9 PFAM
Pfam:Pkinase 749 917 1.1e-16 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 is similar to a mouse gene that encodes a putative protein kinase with a tudor domain, and shows testis-specific expression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display normal embryonic development and spermatogenesis. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted, other(1) Gene trapped(3)

Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T C 9: 49,327,143 (GRCm39) T679A probably benign Het
Bhlhe40 T A 6: 108,638,139 (GRCm39) M33K probably benign Het
Cacna2d1 T C 5: 16,575,607 (GRCm39) S1059P probably benign Het
Cdkn1a C A 17: 29,317,494 (GRCm39) A38E possibly damaging Het
Chrm2 A T 6: 36,500,355 (GRCm39) I71F possibly damaging Het
Cntnap5c A G 17: 58,469,272 (GRCm39) Q618R probably benign Het
Cog5 T A 12: 31,887,308 (GRCm39) N476K probably benign Het
Dhx36 G A 3: 62,377,979 (GRCm39) probably benign Het
Dnajb8 G T 6: 88,199,836 (GRCm39) R124L possibly damaging Het
Dnajc16 A T 4: 141,490,874 (GRCm39) probably null Het
Dzip1 T C 14: 119,120,806 (GRCm39) D717G probably benign Het
Eps15 G T 4: 109,166,346 (GRCm39) V80L probably damaging Het
Fmn1 G A 2: 113,274,812 (GRCm39) probably benign Het
Gm12185 A G 11: 48,798,688 (GRCm39) S602P probably damaging Het
Gm28539 T G 16: 18,773,530 (GRCm39) probably benign Het
Grm3 T C 5: 9,562,290 (GRCm39) N520S probably benign Het
Hivep2 A G 10: 14,017,988 (GRCm39) N1825S probably damaging Het
Igfbp2 A G 1: 72,888,287 (GRCm39) H143R probably benign Het
Igsf8 T G 1: 172,145,111 (GRCm39) V146G possibly damaging Het
Kif13b T G 14: 64,951,562 (GRCm39) S68A probably benign Het
Lrrc15 T A 16: 30,092,848 (GRCm39) I164F possibly damaging Het
Mrrf G A 2: 36,031,643 (GRCm39) R53H possibly damaging Het
Ms4a6d G A 19: 11,579,249 (GRCm39) T76I probably damaging Het
Pkd1l1 T C 11: 8,818,493 (GRCm39) R1332G probably benign Het
Plekha1 A G 7: 130,479,569 (GRCm39) Y29C probably damaging Het
Pnliprp1 A T 19: 58,723,162 (GRCm39) H221L probably damaging Het
Pomt2 T C 12: 87,171,630 (GRCm39) D380G probably damaging Het
Ppm1f C A 16: 16,728,835 (GRCm39) T79N possibly damaging Het
Ppp4r3b A C 11: 29,161,782 (GRCm39) T719P possibly damaging Het
Socs4 G A 14: 47,527,709 (GRCm39) V215I probably benign Het
Spg11 A G 2: 121,924,937 (GRCm39) probably null Het
Ttn A G 2: 76,539,546 (GRCm39) V26153A possibly damaging Het
Twf1 C T 15: 94,478,817 (GRCm39) probably benign Het
Vrk3 A T 7: 44,419,071 (GRCm39) K383M probably damaging Het
Wdr83 A T 8: 85,806,443 (GRCm39) N118K probably damaging Het
Other mutations in Stk31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02479:Stk31 APN 6 49,398,622 (GRCm39) missense probably damaging 0.99
IGL02490:Stk31 APN 6 49,394,469 (GRCm39) missense probably benign 0.04
IGL03165:Stk31 APN 6 49,422,198 (GRCm39) missense probably damaging 0.98
3-1:Stk31 UTSW 6 49,394,136 (GRCm39) nonsense probably null
R0016:Stk31 UTSW 6 49,414,311 (GRCm39) missense probably damaging 1.00
R0016:Stk31 UTSW 6 49,414,311 (GRCm39) missense probably damaging 1.00
R0039:Stk31 UTSW 6 49,419,192 (GRCm39) missense probably damaging 1.00
R0616:Stk31 UTSW 6 49,400,419 (GRCm39) missense probably damaging 1.00
R0732:Stk31 UTSW 6 49,394,429 (GRCm39) missense probably benign 0.00
R0975:Stk31 UTSW 6 49,400,343 (GRCm39) missense probably damaging 1.00
R1127:Stk31 UTSW 6 49,386,141 (GRCm39) missense probably damaging 1.00
R1705:Stk31 UTSW 6 49,400,318 (GRCm39) missense possibly damaging 0.94
R1711:Stk31 UTSW 6 49,446,238 (GRCm39) missense probably benign 0.10
R1892:Stk31 UTSW 6 49,415,408 (GRCm39) missense probably damaging 1.00
R1942:Stk31 UTSW 6 49,416,061 (GRCm39) missense probably damaging 0.98
R1953:Stk31 UTSW 6 49,423,412 (GRCm39) critical splice donor site probably null
R2149:Stk31 UTSW 6 49,416,152 (GRCm39) missense possibly damaging 0.80
R2281:Stk31 UTSW 6 49,394,184 (GRCm39) missense probably damaging 1.00
R3438:Stk31 UTSW 6 49,414,455 (GRCm39) missense probably benign 0.00
R4681:Stk31 UTSW 6 49,414,369 (GRCm39) missense probably benign 0.37
R5333:Stk31 UTSW 6 49,446,086 (GRCm39) missense probably benign 0.00
R5492:Stk31 UTSW 6 49,375,177 (GRCm39) missense probably damaging 1.00
R5782:Stk31 UTSW 6 49,446,070 (GRCm39) missense probably benign 0.00
R5820:Stk31 UTSW 6 49,394,219 (GRCm39) missense probably damaging 0.96
R5931:Stk31 UTSW 6 49,446,236 (GRCm39) missense probably benign 0.05
R6012:Stk31 UTSW 6 49,446,243 (GRCm39) missense probably damaging 0.96
R6254:Stk31 UTSW 6 49,398,631 (GRCm39) missense probably benign 0.08
R6281:Stk31 UTSW 6 49,446,114 (GRCm39) missense possibly damaging 0.93
R6294:Stk31 UTSW 6 49,394,278 (GRCm39) missense probably benign 0.18
R6401:Stk31 UTSW 6 49,400,372 (GRCm39) missense probably damaging 1.00
R7289:Stk31 UTSW 6 49,415,393 (GRCm39) missense probably benign 0.05
R7490:Stk31 UTSW 6 49,416,166 (GRCm39) critical splice donor site probably null
R7659:Stk31 UTSW 6 49,400,340 (GRCm39) missense probably benign 0.00
R7757:Stk31 UTSW 6 49,383,877 (GRCm39) splice site probably null
R8172:Stk31 UTSW 6 49,394,261 (GRCm39) missense possibly damaging 0.79
R8731:Stk31 UTSW 6 49,415,435 (GRCm39) missense probably benign 0.16
R8781:Stk31 UTSW 6 49,383,709 (GRCm39) missense probably damaging 1.00
R8966:Stk31 UTSW 6 49,423,134 (GRCm39) missense possibly damaging 0.67
R9594:Stk31 UTSW 6 49,424,221 (GRCm39) missense possibly damaging 0.90
Z1088:Stk31 UTSW 6 49,394,122 (GRCm39) critical splice acceptor site probably null
Posted On 2012-12-06