Incidental Mutation 'IGL02479:Stk31'
ID 295111
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 # IGL02479
Quality Score
Status
Chromosome 6
Chromosomal Location 49372538-49446435 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49398622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 341 (E341G)
Ref Sequence ENSEMBL: ENSMUSP00000127545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024171] [ENSMUST00000163954] [ENSMUST00000172459]
AlphaFold Q99MW1
Predicted Effect probably damaging
Transcript: ENSMUST00000024171
AA Change: E341G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024171
Gene: ENSMUSG00000023403
AA Change: E341G

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 damaging
Transcript: ENSMUST00000163954
AA Change: E341G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127545
Gene: ENSMUSG00000023403
AA Change: E341G

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 noncoding transcript
Transcript: ENSMUST00000172394
Predicted Effect probably damaging
Transcript: ENSMUST00000172459
AA Change: E341G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132896
Gene: ENSMUSG00000023403
AA Change: E341G

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b T C 5: 121,639,461 (GRCm39) Y528C probably damaging Het
Adam24 T A 8: 41,132,571 (GRCm39) I13N probably benign Het
Arsj T C 3: 126,232,588 (GRCm39) S445P possibly damaging Het
Btf3l4 G A 4: 108,683,373 (GRCm39) T31I possibly damaging Het
Cask A T X: 13,423,297 (GRCm39) D502E probably damaging Het
Cenpl T A 1: 160,910,637 (GRCm39) S195T probably benign Het
Clhc1 T A 11: 29,528,107 (GRCm39) I545N probably damaging Het
Clrn2 T C 5: 45,621,254 (GRCm39) I216T probably benign Het
Csf2rb C T 15: 78,225,924 (GRCm39) Q332* probably null Het
Cyp3a44 T C 5: 145,727,477 (GRCm39) D284G probably benign Het
Dgka T C 10: 128,566,115 (GRCm39) E345G probably benign Het
Dync1i2 G A 2: 71,066,323 (GRCm39) V128I probably damaging Het
Eno3 T A 11: 70,551,714 (GRCm39) probably benign Het
Epc2 T A 2: 49,422,147 (GRCm39) I347K probably benign Het
F8 A T X: 74,331,846 (GRCm39) N681K probably damaging Het
Fancm T A 12: 65,153,259 (GRCm39) D1238E probably damaging Het
Fcna T A 2: 25,515,272 (GRCm39) Q237L probably benign Het
Fpr2 A T 17: 18,113,074 (GRCm39) R23S probably benign Het
Frmd3 A G 4: 74,105,752 (GRCm39) D466G probably benign Het
Gen1 C A 12: 11,291,936 (GRCm39) V618L probably benign Het
Gja4 T C 4: 127,206,217 (GRCm39) E182G probably benign Het
Gsdmc T A 15: 63,649,824 (GRCm39) I356F possibly damaging Het
Kctd19 T C 8: 106,111,400 (GRCm39) D102G probably damaging Het
Lrit2 T C 14: 36,794,235 (GRCm39) L433P probably damaging Het
Lrp2 G A 2: 69,295,145 (GRCm39) probably benign Het
Luc7l3 G A 11: 94,187,735 (GRCm39) probably benign Het
Map3k5 T A 10: 19,932,230 (GRCm39) L458Q probably damaging Het
Mast4 A G 13: 102,878,545 (GRCm39) S1038P probably damaging Het
Med12 A T X: 100,340,598 (GRCm39) probably benign Het
Mtor T A 4: 148,555,041 (GRCm39) L888M probably damaging Het
Nova1 A T 12: 46,863,701 (GRCm39) I83N unknown Het
Obscn A G 11: 58,947,053 (GRCm39) probably benign Het
Or11q2 T C X: 48,772,742 (GRCm39) V121A probably benign Het
Or4d10c T A 19: 12,065,269 (GRCm39) M296L probably benign Het
Or4f15 A C 2: 111,813,730 (GRCm39) S230A probably benign Het
Or6k2 C A 1: 173,986,520 (GRCm39) Y60* probably null Het
Pde2a A G 7: 101,150,290 (GRCm39) Y243C probably damaging Het
Pdzd8 T A 19: 59,288,215 (GRCm39) K1062* probably null Het
Phc1 A T 6: 122,300,676 (GRCm39) probably benign Het
Pik3c2g T A 6: 139,863,730 (GRCm39) S764T probably benign Het
Pmp2 T G 3: 10,247,262 (GRCm39) R89S probably benign Het
Prdm2 A G 4: 142,861,499 (GRCm39) L597P probably damaging Het
Rfx6 T A 10: 51,554,424 (GRCm39) D88E probably benign Het
Rgs9 T C 11: 109,116,478 (GRCm39) S442G possibly damaging Het
Ror2 C T 13: 53,285,968 (GRCm39) R82Q possibly damaging Het
Sez6 C A 11: 77,868,852 (GRCm39) A986E possibly damaging Het
Slc5a5 T A 8: 71,341,555 (GRCm39) M325L possibly damaging Het
Slx9 T C 10: 77,350,161 (GRCm39) S76G probably damaging Het
Sppl2c G A 11: 104,077,763 (GRCm39) V188I probably benign Het
Srrm3 G T 5: 135,864,103 (GRCm39) C67F probably damaging Het
Svil A T 18: 5,099,476 (GRCm39) M1267L probably damaging Het
Tas2r135 C T 6: 42,382,685 (GRCm39) R75* probably null Het
Trav8d-1 T C 14: 53,016,257 (GRCm39) S48P probably benign Het
Vrk1 A T 12: 106,017,261 (GRCm39) Q95L probably benign Het
Wdr25 C A 12: 108,864,527 (GRCm39) T224K probably benign Het
Wdr37 A T 13: 8,892,820 (GRCm39) H224Q probably damaging Het
Zhx1 C T 15: 57,917,767 (GRCm39) E160K probably damaging Het
Other mutations in Stk31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Stk31 APN 6 49,414,377 (GRCm39) missense probably benign 0.41
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 2015-04-16