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)
|
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
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: E341G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000127545 Gene: ENSMUSG00000023403 AA Change: E341G
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 |
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
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 |
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |