Incidental Mutation 'R4892:Stk17b'
| ID |
472622 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk17b
|
| Ensembl Gene |
ENSMUSG00000026094 |
| Gene Name |
serine/threonine kinase 17b (apoptosis-inducing) |
| Synonyms |
3110009A03Rik, Drak2 |
| MMRRC Submission |
042497-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R4892 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
53755506-53785224 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 53771611 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 112
(Y112N)
|
| 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: Y112N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027263
Gene: ENSMUSG00000026094
AA Change: Y112N
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 86,509,802 (GRCm38) |
T1128A |
probably benign |
Het |
| Apol11a |
A |
T |
15: 77,516,990 (GRCm38) |
K226* |
probably null |
Het |
| Atp4a |
A |
G |
7: 30,712,474 (GRCm38) |
M45V |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,403,052 (GRCm38) |
M263K |
probably benign |
Het |
| Capn11 |
GACA |
GA |
17: 45,633,097 (GRCm38) |
|
probably null |
Het |
| Ccdc190 |
C |
A |
1: 169,930,109 (GRCm38) |
L46I |
possibly damaging |
Het |
| Cep131 |
C |
T |
11: 120,068,057 (GRCm38) |
R717H |
probably damaging |
Het |
| Cpt1c |
A |
G |
7: 44,959,588 (GRCm38) |
F770L |
probably benign |
Het |
| Dhx30 |
A |
T |
9: 110,085,856 (GRCm38) |
|
probably null |
Het |
| Dido1 |
G |
A |
2: 180,675,029 (GRCm38) |
Q662* |
probably null |
Het |
| Dip2a |
T |
C |
10: 76,280,759 (GRCm38) |
E910G |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,748,568 (GRCm38) |
D2585N |
probably benign |
Het |
| Fmo3 |
T |
A |
1: 162,968,731 (GRCm38) |
I91F |
probably benign |
Het |
| Gdap1 |
A |
C |
1: 17,159,994 (GRCm38) |
D217A |
possibly damaging |
Het |
| Grm1 |
T |
C |
10: 10,719,587 (GRCm38) |
S766G |
possibly damaging |
Het |
| Kat8 |
T |
A |
7: 127,915,538 (GRCm38) |
I123N |
possibly damaging |
Het |
| Kcnt2 |
C |
A |
1: 140,513,025 (GRCm38) |
S23* |
probably null |
Het |
| Krt73 |
G |
A |
15: 101,795,809 (GRCm38) |
T432I |
probably damaging |
Het |
| Lgals9 |
T |
A |
11: 78,966,083 (GRCm38) |
I223L |
probably benign |
Het |
| Mpo |
T |
A |
11: 87,802,681 (GRCm38) |
N48K |
probably benign |
Het |
| Myo9a |
T |
G |
9: 59,824,242 (GRCm38) |
H632Q |
probably damaging |
Het |
| Or2y1c |
C |
A |
11: 49,470,216 (GRCm38) |
Q22K |
probably benign |
Het |
| Or9s27 |
A |
G |
1: 92,588,921 (GRCm38) |
N197S |
probably benign |
Het |
| Prelid2 |
A |
G |
18: 41,951,144 (GRCm38) |
F11S |
possibly damaging |
Het |
| Setd1a |
G |
T |
7: 127,778,524 (GRCm38) |
V57L |
probably damaging |
Het |
| Sgip1 |
A |
G |
4: 102,966,234 (GRCm38) |
D704G |
probably damaging |
Het |
| Spryd3 |
T |
C |
15: 102,118,102 (GRCm38) |
E378G |
probably benign |
Het |
| Syndig1 |
A |
T |
2: 149,899,891 (GRCm38) |
K132N |
probably damaging |
Het |
| Tcf20 |
C |
T |
15: 82,854,199 (GRCm38) |
R1017Q |
possibly damaging |
Het |
| Tenm3 |
T |
A |
8: 48,276,861 (GRCm38) |
D1370V |
probably damaging |
Het |
| Tnrc6a |
C |
T |
7: 123,169,911 (GRCm38) |
T308I |
probably damaging |
Het |
| Ttc29 |
T |
C |
8: 78,333,645 (GRCm38) |
V398A |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,428,517 (GRCm38) |
T2218A |
probably benign |
Het |
|
| Other mutations in Stk17b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00722:Stk17b
|
APN |
1 |
53,764,140 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL00767:Stk17b
|
APN |
1 |
53,764,023 (GRCm38) |
splice site |
probably benign |
|
|
IGL01012:Stk17b
|
APN |
1 |
53,761,037 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01431:Stk17b
|
APN |
1 |
53,765,915 (GRCm38) |
splice site |
probably benign |
|
|
IGL01914:Stk17b
|
APN |
1 |
53,761,067 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02236:Stk17b
|
APN |
1 |
53,764,088 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02827:Stk17b
|
APN |
1 |
53,776,542 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0013:Stk17b
|
UTSW |
1 |
53,764,132 (GRCm38) |
missense |
probably benign |
0.36 |
|
R0545:Stk17b
|
UTSW |
1 |
53,762,583 (GRCm38) |
splice site |
probably benign |
|
|
R0831:Stk17b
|
UTSW |
1 |
53,757,492 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1035:Stk17b
|
UTSW |
1 |
53,762,599 (GRCm38) |
missense |
probably benign |
0.22 |
|
R1375:Stk17b
|
UTSW |
1 |
53,765,947 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R1576:Stk17b
|
UTSW |
1 |
53,757,590 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1809:Stk17b
|
UTSW |
1 |
53,765,981 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R1988:Stk17b
|
UTSW |
1 |
53,761,082 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2033:Stk17b
|
UTSW |
1 |
53,761,076 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2105:Stk17b
|
UTSW |
1 |
53,776,605 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2255:Stk17b
|
UTSW |
1 |
53,776,572 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4395:Stk17b
|
UTSW |
1 |
53,764,115 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4521:Stk17b
|
UTSW |
1 |
53,764,038 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4777:Stk17b
|
UTSW |
1 |
53,771,708 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4871:Stk17b
|
UTSW |
1 |
53,757,534 (GRCm38) |
missense |
probably benign |
0.14 |
|
R4999:Stk17b
|
UTSW |
1 |
53,761,147 (GRCm38) |
splice site |
probably null |
|
|
R5122:Stk17b
|
UTSW |
1 |
53,776,558 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5621:Stk17b
|
UTSW |
1 |
53,771,784 (GRCm38) |
nonsense |
probably null |
|
|
R6636:Stk17b
|
UTSW |
1 |
53,761,088 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6924:Stk17b
|
UTSW |
1 |
53,761,059 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R7283:Stk17b
|
UTSW |
1 |
53,757,515 (GRCm38) |
missense |
probably benign |
|
|
R7322:Stk17b
|
UTSW |
1 |
53,765,945 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7671:Stk17b
|
UTSW |
1 |
53,766,000 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8984:Stk17b
|
UTSW |
1 |
53,757,625 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9476:Stk17b
|
UTSW |
1 |
53,757,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9510:Stk17b
|
UTSW |
1 |
53,757,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCCTGCTGTAAATGAATTTTGGC -3'
(R):5'- GAGGAAAATTTGCTGTGGTTAGAC -3'
Sequencing Primer
(F):5'- GCTGTAAATGAATTTTGGCCTAGATG -3'
(R):5'- TTGCTGTGGTTAGACAATGTATATC -3'
|
| Posted On |
2017-04-14 |
Incidental Mutation