Incidental Mutation 'IGL01431:Stk17b'
ID |
84138 |
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 # |
IGL01431
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
53794671-53824374 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 53805074 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139880
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027263]
[ENSMUST00000185920]
|
AlphaFold |
Q8BG48 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027263
|
SMART Domains |
Protein: ENSMUSP00000027263 Gene: ENSMUSG00000026094
Domain | Start | End | E-Value | Type |
S_TKc
|
33 |
293 |
5.77e-79 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185920
|
SMART Domains |
Protein: ENSMUSP00000139880 Gene: ENSMUSG00000026094
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts7 |
A |
G |
9: 90,089,838 (GRCm39) |
I897T |
possibly damaging |
Het |
Aqp2 |
G |
A |
15: 99,477,301 (GRCm39) |
V90M |
possibly damaging |
Het |
Atf6 |
T |
C |
1: 170,680,571 (GRCm39) |
|
probably benign |
Het |
Cdh3 |
T |
C |
8: 107,274,301 (GRCm39) |
Y607H |
probably damaging |
Het |
Cer1 |
T |
A |
4: 82,801,068 (GRCm39) |
E198D |
probably benign |
Het |
Dscam |
A |
G |
16: 96,453,278 (GRCm39) |
|
probably null |
Het |
Ecel1 |
C |
T |
1: 87,079,226 (GRCm39) |
R484H |
probably damaging |
Het |
Entpd7 |
C |
A |
19: 43,718,278 (GRCm39) |
H575Q |
probably benign |
Het |
F11r |
T |
C |
1: 171,290,477 (GRCm39) |
V279A |
probably damaging |
Het |
Gm17093 |
T |
A |
14: 44,759,122 (GRCm39) |
|
probably benign |
Het |
Got1 |
T |
A |
19: 43,491,488 (GRCm39) |
K321* |
probably null |
Het |
Gpn1 |
T |
C |
5: 31,664,882 (GRCm39) |
V302A |
probably benign |
Het |
Hivep1 |
G |
T |
13: 42,311,493 (GRCm39) |
K1244N |
probably damaging |
Het |
Idh3b |
T |
C |
2: 130,123,817 (GRCm39) |
T116A |
possibly damaging |
Het |
Itgb4 |
C |
A |
11: 115,897,283 (GRCm39) |
|
probably benign |
Het |
Mybl1 |
G |
T |
1: 9,742,872 (GRCm39) |
L579I |
probably damaging |
Het |
Myh14 |
T |
A |
7: 44,263,782 (GRCm39) |
T1694S |
probably null |
Het |
Mylk3 |
T |
C |
8: 86,063,030 (GRCm39) |
D537G |
probably damaging |
Het |
Myo1d |
A |
C |
11: 80,565,665 (GRCm39) |
F387V |
probably damaging |
Het |
Nek9 |
T |
C |
12: 85,361,361 (GRCm39) |
Y448C |
probably benign |
Het |
Or8k40 |
A |
T |
2: 86,584,508 (GRCm39) |
H191Q |
probably benign |
Het |
Paxbp1 |
T |
C |
16: 90,832,804 (GRCm39) |
|
probably benign |
Het |
Potefam1 |
A |
T |
2: 111,055,740 (GRCm39) |
|
probably benign |
Het |
Retreg2 |
T |
A |
1: 75,121,749 (GRCm39) |
|
probably null |
Het |
Ripply3 |
G |
A |
16: 94,129,402 (GRCm39) |
C16Y |
possibly damaging |
Het |
Robo3 |
G |
A |
9: 37,330,407 (GRCm39) |
|
probably benign |
Het |
Rrm1 |
C |
A |
7: 102,106,759 (GRCm39) |
|
probably benign |
Het |
Rsad2 |
T |
A |
12: 26,498,666 (GRCm39) |
R269S |
probably benign |
Het |
Sbp |
A |
T |
17: 24,164,322 (GRCm39) |
|
probably benign |
Het |
Schip1 |
A |
T |
3: 68,525,110 (GRCm39) |
Q162L |
probably damaging |
Het |
Senp1 |
T |
C |
15: 97,980,144 (GRCm39) |
Y67C |
probably damaging |
Het |
Slc25a25 |
C |
T |
2: 32,309,103 (GRCm39) |
R233K |
probably damaging |
Het |
Smoc1 |
C |
A |
12: 81,199,525 (GRCm39) |
S220* |
probably null |
Het |
Stab1 |
C |
A |
14: 30,870,952 (GRCm39) |
R1299I |
probably benign |
Het |
Tmc7 |
T |
G |
7: 118,151,985 (GRCm39) |
D312A |
probably damaging |
Het |
Vmn1r79 |
T |
C |
7: 11,910,327 (GRCm39) |
S70P |
possibly damaging |
Het |
Zfc3h1 |
C |
A |
10: 115,259,128 (GRCm39) |
T1591K |
possibly damaging |
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 |
IGL01914:Stk17b
|
APN |
1 |
53,800,226 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02236:Stk17b
|
APN |
1 |
53,803,247 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-11-11 |