Incidental Mutation 'IGL00722:Stk17b'
| ID |
14269 |
| 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 # |
IGL00722
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
53794671-53824374 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53803299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 167
(S167G)
|
| 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: S167G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027263
Gene: ENSMUSG00000026094
AA Change: S167G
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
33 |
293 |
5.77e-79 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000185920
AA Change: S39G
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139880
Gene: ENSMUSG00000026094
AA Change: S39G
| 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: 12 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp1 |
T |
C |
12: 30,947,792 (GRCm39) |
D82G |
probably damaging |
Het |
| Alpk1 |
A |
G |
3: 127,473,862 (GRCm39) |
S714P |
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,874,084 (GRCm39) |
I491T |
probably damaging |
Het |
| Frg2f1 |
C |
T |
4: 119,388,307 (GRCm39) |
R64K |
possibly damaging |
Het |
| Hibch |
T |
C |
1: 52,940,479 (GRCm39) |
V216A |
probably damaging |
Het |
| Mttp |
C |
A |
3: 137,814,776 (GRCm39) |
V500F |
possibly damaging |
Het |
| Osbpl9 |
T |
C |
4: 108,929,207 (GRCm39) |
I397V |
probably damaging |
Het |
| Rpusd4 |
T |
A |
9: 35,179,714 (GRCm39) |
V69D |
possibly damaging |
Het |
| Setd2 |
T |
C |
9: 110,380,204 (GRCm39) |
S1340P |
possibly damaging |
Het |
| Strn |
T |
C |
17: 78,999,849 (GRCm39) |
D129G |
possibly damaging |
Het |
| Wdr44 |
T |
C |
X: 23,598,548 (GRCm39) |
|
probably benign |
Het |
| Zfp558 |
G |
T |
9: 18,367,817 (GRCm39) |
P324T |
probably damaging |
Het |
|
| Other mutations in Stk17b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation