Incidental Mutation 'R0039:Stk31'
ID 64638
Institutional Source Beutler Lab
Gene Symbol Stk31
Ensembl Gene ENSMUSG00000023403
Gene Name serine threonine kinase 31
Synonyms C330007K24Rik
MMRRC Submission 038333-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0039 (G1)
Quality Score 220
Status Not validated
Chromosome 6
Chromosomal Location 49372538-49446435 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49419192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 700 (W700R)
Ref Sequence ENSEMBL: ENSMUSP00000024171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024171] [ENSMUST00000163954] [ENSMUST00000172459]
AlphaFold Q99MW1
Predicted Effect probably damaging
Transcript: ENSMUST00000024171
AA Change: W700R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024171
Gene: ENSMUSG00000023403
AA Change: W700R

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: W700R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127545
Gene: ENSMUSG00000023403
AA Change: W700R

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 unknown
Transcript: ENSMUST00000167846
AA Change: W89R
SMART Domains Protein: ENSMUSP00000130561
Gene: ENSMUSG00000023403
AA Change: W89R

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 105 287 1e-6 PFAM
Pfam:Pkinase 184 284 1.9e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172459
AA Change: W655R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132896
Gene: ENSMUSG00000023403
AA Change: W655R

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
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.6%
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: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atic A T 1: 71,617,009 (GRCm39) E523V possibly damaging Het
Col18a1 T G 10: 76,913,002 (GRCm39) K744N probably damaging Het
Degs2 A T 12: 108,656,848 (GRCm39) Y283N probably damaging Het
Eif3m A T 2: 104,836,217 (GRCm39) V209E probably damaging Het
Esyt1 A G 10: 128,356,831 (GRCm39) V300A probably damaging Het
Gnaz A G 10: 74,850,866 (GRCm39) Y297C probably damaging Het
Lmtk2 G T 5: 144,103,205 (GRCm39) L321F probably damaging Het
Map3k10 A G 7: 27,357,523 (GRCm39) S752P possibly damaging Het
Mcoln2 C T 3: 145,889,316 (GRCm39) T374M probably damaging Het
Mroh8 T C 2: 157,071,849 (GRCm39) H552R possibly damaging Het
Rhbdl2 T A 4: 123,703,822 (GRCm39) N32K probably benign Het
Rreb1 C T 13: 38,083,613 (GRCm39) T92M probably damaging Het
Specc1 A T 11: 61,920,195 (GRCm39) M32L probably damaging Het
Other mutations in Stk31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Stk31 APN 6 49,414,377 (GRCm39) missense probably benign 0.41
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
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
Predicted Primers PCR Primer
(F):5'- AAAAGGCAGATGGAggggctgg -3'
(R):5'- ACTAATCTCCTGCTTGCCAAGAAAATGA -3'

Sequencing Primer
(F):5'- gcacctgactgctcttcc -3'
(R):5'- ACAGTCTTGAGGAGCAGTCC -3'
Posted On 2013-08-06