Incidental Mutation 'R0016:Stk31'
ID |
32691 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stk31
|
Ensembl Gene |
ENSMUSG00000023403 |
Gene Name |
serine threonine kinase 31 |
Synonyms |
C330007K24Rik |
MMRRC Submission |
038311-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0016 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
49372538-49446435 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 49414311 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 482
(Y482H)
|
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: Y482H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000024171 Gene: ENSMUSG00000023403 AA Change: Y482H
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: Y482H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127545 Gene: ENSMUSG00000023403 AA Change: Y482H
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 |
probably benign
Transcript: ENSMUST00000167846
|
SMART Domains |
Protein: ENSMUSP00000130561 Gene: ENSMUSG00000023403
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 benign
Transcript: ENSMUST00000172459
|
SMART Domains |
Protein: ENSMUSP00000132896 Gene: ENSMUSG00000023403
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 |
|
Meta Mutation Damage Score |
0.1309 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.2%
|
Validation Efficiency |
100% (58/58) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
C |
1: 71,333,959 (GRCm39) |
V1181G |
probably benign |
Het |
Adamts12 |
A |
T |
15: 11,217,915 (GRCm39) |
I291F |
probably damaging |
Het |
Aspm |
G |
C |
1: 139,407,282 (GRCm39) |
Q2056H |
probably benign |
Het |
C7 |
A |
T |
15: 5,076,406 (GRCm39) |
V122E |
probably benign |
Het |
Casp12 |
A |
T |
9: 5,352,844 (GRCm39) |
Q152L |
probably null |
Het |
Cdh16 |
T |
A |
8: 105,344,264 (GRCm39) |
T92S |
probably benign |
Het |
Chrd |
G |
C |
16: 20,553,058 (GRCm39) |
V162L |
possibly damaging |
Het |
Cpne8 |
A |
G |
15: 90,385,608 (GRCm39) |
|
probably benign |
Het |
Cspg4b |
T |
C |
13: 113,502,639 (GRCm39) |
Y115H |
probably damaging |
Het |
Cyp2j7 |
T |
A |
4: 96,090,384 (GRCm39) |
I347F |
probably damaging |
Het |
Cyp4a10 |
A |
T |
4: 115,378,304 (GRCm39) |
Q130L |
probably damaging |
Het |
Dach1 |
C |
T |
14: 98,406,184 (GRCm39) |
G188R |
probably damaging |
Het |
Dgkd |
T |
C |
1: 87,845,674 (GRCm39) |
S294P |
probably benign |
Het |
Dnah8 |
A |
G |
17: 30,882,290 (GRCm39) |
I621V |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,144,346 (GRCm39) |
|
probably benign |
Het |
Echdc1 |
A |
T |
10: 29,198,417 (GRCm39) |
|
probably benign |
Het |
Elovl3 |
T |
A |
19: 46,120,597 (GRCm39) |
F30Y |
probably damaging |
Het |
Fa2h |
T |
C |
8: 112,120,146 (GRCm39) |
Y80C |
probably damaging |
Het |
Fgd3 |
C |
T |
13: 49,450,085 (GRCm39) |
D55N |
probably benign |
Het |
Fhod1 |
T |
C |
8: 106,058,287 (GRCm39) |
E823G |
possibly damaging |
Het |
Gapvd1 |
A |
G |
2: 34,589,925 (GRCm39) |
|
probably benign |
Het |
Gm17067 |
A |
T |
7: 42,358,046 (GRCm39) |
I152K |
probably benign |
Het |
Gvin3 |
G |
A |
7: 106,202,453 (GRCm39) |
L264F |
probably benign |
Het |
Kif27 |
A |
G |
13: 58,502,528 (GRCm39) |
V50A |
probably damaging |
Het |
Kpna2 |
T |
C |
11: 106,881,912 (GRCm39) |
T305A |
probably benign |
Het |
Krtap22-2 |
A |
G |
16: 88,807,407 (GRCm39) |
|
probably benign |
Het |
Lrp2bp |
T |
A |
8: 46,465,068 (GRCm39) |
F62L |
probably damaging |
Het |
Marf1 |
G |
A |
16: 13,970,129 (GRCm39) |
H197Y |
probably damaging |
Het |
Mob3b |
A |
G |
4: 35,083,947 (GRCm39) |
F81L |
probably benign |
Het |
Mon2 |
C |
T |
10: 122,871,451 (GRCm39) |
V389M |
probably damaging |
Het |
Myef2l |
A |
T |
3: 10,154,379 (GRCm39) |
M383L |
possibly damaging |
Het |
Myh8 |
A |
G |
11: 67,189,351 (GRCm39) |
K1176E |
probably damaging |
Het |
Naf1 |
T |
C |
8: 67,341,707 (GRCm39) |
|
probably benign |
Het |
Nckap1l |
A |
G |
15: 103,384,063 (GRCm39) |
T554A |
probably benign |
Het |
Oog3 |
A |
G |
4: 143,884,641 (GRCm39) |
Y432H |
probably damaging |
Het |
Paxbp1 |
A |
T |
16: 90,832,924 (GRCm39) |
|
probably benign |
Het |
Phf20 |
A |
T |
2: 156,109,114 (GRCm39) |
K154* |
probably null |
Het |
Pip4p1 |
C |
T |
14: 51,166,351 (GRCm39) |
R213Q |
probably damaging |
Het |
Plekhj1 |
T |
C |
10: 80,632,250 (GRCm39) |
D74G |
possibly damaging |
Het |
Plpp4 |
T |
C |
7: 128,925,148 (GRCm39) |
C128R |
probably damaging |
Het |
Rcan3 |
A |
T |
4: 135,145,689 (GRCm39) |
|
probably null |
Het |
Sh3rf1 |
T |
A |
8: 61,827,172 (GRCm39) |
M642K |
probably benign |
Het |
Slc7a1 |
A |
G |
5: 148,271,393 (GRCm39) |
V522A |
probably benign |
Het |
Sorbs1 |
A |
G |
19: 40,303,182 (GRCm39) |
|
probably benign |
Het |
Spry2 |
C |
T |
14: 106,130,731 (GRCm39) |
V152M |
probably benign |
Het |
Srgap2 |
A |
G |
1: 131,277,200 (GRCm39) |
M349T |
possibly damaging |
Het |
Stag3 |
A |
G |
5: 138,289,643 (GRCm39) |
H271R |
possibly damaging |
Het |
Stat4 |
T |
C |
1: 52,107,939 (GRCm39) |
V136A |
probably benign |
Het |
Stc2 |
A |
T |
11: 31,310,177 (GRCm39) |
D286E |
probably benign |
Het |
Tasor2 |
A |
C |
13: 3,635,170 (GRCm39) |
|
probably null |
Het |
Ticrr |
C |
T |
7: 79,343,540 (GRCm39) |
P1135L |
probably benign |
Het |
Trim27 |
A |
T |
13: 21,375,399 (GRCm39) |
E310V |
probably benign |
Het |
Uvrag |
T |
C |
7: 98,641,188 (GRCm39) |
K284R |
probably benign |
Het |
Vmn1r78 |
A |
C |
7: 11,887,279 (GRCm39) |
S297R |
probably benign |
Het |
Xylt2 |
A |
G |
11: 94,560,466 (GRCm39) |
S270P |
probably damaging |
Het |
Zfhx3 |
T |
C |
8: 109,676,810 (GRCm39) |
M2620T |
probably benign |
Het |
Zkscan2 |
C |
A |
7: 123,099,219 (GRCm39) |
|
probably benign |
Het |
Zwint |
T |
C |
10: 72,493,030 (GRCm39) |
|
probably benign |
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 |
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 |
|
|
Predicted Primers |
|
Posted On |
2013-05-09 |