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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |