Incidental Mutation 'IGL02236:Stk17b'
ID |
285883 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Stk17b
|
Ensembl Gene |
ENSMUSG00000026094 |
Gene Name |
serine/threonine kinase 17b (apoptosis-inducing) |
Synonyms |
3110009A03Rik, Drak2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
IGL02236
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
53794671-53824374 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 53803247 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 184
(R184L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027263
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027263]
[ENSMUST00000185920]
|
AlphaFold |
Q8BG48 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027263
AA Change: R184L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027263 Gene: ENSMUSG00000026094 AA Change: R184L
Domain | Start | End | E-Value | Type |
S_TKc
|
33 |
293 |
5.77e-79 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000185920
AA Change: R56L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139880 Gene: ENSMUSG00000026094 AA Change: R56L
Domain | Start | End | E-Value | Type |
S_TKc
|
1 |
93 |
5.8e-5 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187066
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mice display abnormal T cell numbers, increased T cell proliferation, abnormal cytokine physiology, and decreased susceptibility to experimental autoimmune encephalomyelitis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Baz1b |
T |
C |
5: 135,246,138 (GRCm39) |
L529P |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,197,399 (GRCm39) |
D995E |
probably benign |
Het |
Cd22 |
T |
C |
7: 30,566,893 (GRCm39) |
N607S |
possibly damaging |
Het |
Ddx10 |
T |
A |
9: 53,146,682 (GRCm39) |
D180V |
probably damaging |
Het |
Dennd4c |
T |
C |
4: 86,725,672 (GRCm39) |
Y709H |
possibly damaging |
Het |
Dhrs3 |
A |
C |
4: 144,620,133 (GRCm39) |
I17L |
probably benign |
Het |
Dnah8 |
A |
T |
17: 30,868,747 (GRCm39) |
K394* |
probably null |
Het |
Flnc |
T |
A |
6: 29,454,375 (GRCm39) |
I1896N |
probably damaging |
Het |
Glipr1l2 |
A |
G |
10: 111,928,534 (GRCm39) |
Y143C |
probably damaging |
Het |
Lmo7 |
T |
C |
14: 102,163,524 (GRCm39) |
|
probably benign |
Het |
Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
Mast3 |
A |
G |
8: 71,241,888 (GRCm39) |
S98P |
probably benign |
Het |
Myf5 |
A |
G |
10: 107,320,051 (GRCm39) |
S200P |
possibly damaging |
Het |
Or52r1b |
T |
G |
7: 102,690,928 (GRCm39) |
S76A |
possibly damaging |
Het |
Pramel12 |
G |
A |
4: 143,143,512 (GRCm39) |
V93I |
probably benign |
Het |
Recql5 |
A |
C |
11: 115,784,856 (GRCm39) |
S824A |
probably benign |
Het |
Reg2 |
A |
G |
6: 78,383,188 (GRCm39) |
E45G |
probably damaging |
Het |
Rergl |
T |
C |
6: 139,471,918 (GRCm39) |
D77G |
probably benign |
Het |
Rnf224 |
T |
C |
2: 25,126,260 (GRCm39) |
D31G |
probably damaging |
Het |
Sema4c |
C |
T |
1: 36,592,166 (GRCm39) |
S227N |
probably damaging |
Het |
Sgsm2 |
C |
T |
11: 74,750,698 (GRCm39) |
G439D |
probably damaging |
Het |
Smap2 |
T |
A |
4: 120,832,587 (GRCm39) |
M185L |
probably benign |
Het |
Spty2d1 |
A |
G |
7: 46,647,360 (GRCm39) |
V523A |
probably benign |
Het |
Syt13 |
A |
G |
2: 92,771,210 (GRCm39) |
D99G |
probably damaging |
Het |
Trav14-1 |
T |
A |
14: 53,791,763 (GRCm39) |
S38T |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,700,812 (GRCm39) |
|
probably benign |
Het |
Usp17la |
G |
A |
7: 104,510,353 (GRCm39) |
W319* |
probably null |
Het |
Vmn2r73 |
T |
C |
7: 85,521,902 (GRCm39) |
T146A |
probably benign |
Het |
Vwa3b |
C |
T |
1: 37,193,132 (GRCm39) |
|
probably benign |
Het |
Zfp13 |
A |
T |
17: 23,799,739 (GRCm39) |
|
probably benign |
Het |
Zscan18 |
A |
C |
7: 12,503,251 (GRCm39) |
D769E |
probably benign |
Het |
|
Other mutations in Stk17b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00722:Stk17b
|
APN |
1 |
53,803,299 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00767:Stk17b
|
APN |
1 |
53,803,182 (GRCm39) |
splice site |
probably benign |
|
IGL01012:Stk17b
|
APN |
1 |
53,800,196 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01431:Stk17b
|
APN |
1 |
53,805,074 (GRCm39) |
splice site |
probably benign |
|
IGL01914:Stk17b
|
APN |
1 |
53,800,226 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02827:Stk17b
|
APN |
1 |
53,815,701 (GRCm39) |
missense |
probably benign |
0.03 |
R0013:Stk17b
|
UTSW |
1 |
53,803,291 (GRCm39) |
missense |
probably benign |
0.36 |
R0545:Stk17b
|
UTSW |
1 |
53,801,742 (GRCm39) |
splice site |
probably benign |
|
R0831:Stk17b
|
UTSW |
1 |
53,796,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R1035:Stk17b
|
UTSW |
1 |
53,801,758 (GRCm39) |
missense |
probably benign |
0.22 |
R1375:Stk17b
|
UTSW |
1 |
53,805,106 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1576:Stk17b
|
UTSW |
1 |
53,796,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R1809:Stk17b
|
UTSW |
1 |
53,805,140 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1988:Stk17b
|
UTSW |
1 |
53,800,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R2033:Stk17b
|
UTSW |
1 |
53,800,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R2105:Stk17b
|
UTSW |
1 |
53,815,764 (GRCm39) |
missense |
probably benign |
0.01 |
R2255:Stk17b
|
UTSW |
1 |
53,815,731 (GRCm39) |
missense |
probably benign |
0.00 |
R4395:Stk17b
|
UTSW |
1 |
53,803,274 (GRCm39) |
missense |
probably damaging |
0.98 |
R4521:Stk17b
|
UTSW |
1 |
53,803,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R4777:Stk17b
|
UTSW |
1 |
53,810,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R4871:Stk17b
|
UTSW |
1 |
53,796,693 (GRCm39) |
missense |
probably benign |
0.14 |
R4892:Stk17b
|
UTSW |
1 |
53,810,770 (GRCm39) |
missense |
probably damaging |
0.99 |
R4999:Stk17b
|
UTSW |
1 |
53,800,306 (GRCm39) |
splice site |
probably null |
|
R5122:Stk17b
|
UTSW |
1 |
53,815,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R5621:Stk17b
|
UTSW |
1 |
53,810,943 (GRCm39) |
nonsense |
probably null |
|
R6636:Stk17b
|
UTSW |
1 |
53,800,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R6924:Stk17b
|
UTSW |
1 |
53,800,218 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7283:Stk17b
|
UTSW |
1 |
53,796,674 (GRCm39) |
missense |
probably benign |
|
R7322:Stk17b
|
UTSW |
1 |
53,805,104 (GRCm39) |
missense |
probably benign |
0.16 |
R7671:Stk17b
|
UTSW |
1 |
53,805,159 (GRCm39) |
missense |
probably damaging |
0.99 |
R8984:Stk17b
|
UTSW |
1 |
53,796,784 (GRCm39) |
missense |
probably benign |
0.05 |
R9476:Stk17b
|
UTSW |
1 |
53,796,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R9510:Stk17b
|
UTSW |
1 |
53,796,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |