Incidental Mutation 'R4395:Stk17b'
| ID |
325425 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk17b
|
| Ensembl Gene |
ENSMUSG00000026094 |
| Gene Name |
serine/threonine kinase 17b (apoptosis-inducing) |
| Synonyms |
3110009A03Rik, Drak2 |
| MMRRC Submission |
041684-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R4395 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
53794671-53824374 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53803274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 47
(I47T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027263]
[ENSMUST00000185920]
|
| AlphaFold |
Q8BG48 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027263
AA Change: I175T
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000027263
Gene: ENSMUSG00000026094
AA Change: I175T
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
33 |
293 |
5.77e-79 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185920
AA Change: I47T
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139880
Gene: ENSMUSG00000026094
AA Change: I47T
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
1 |
93 |
5.8e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187066
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat1 |
A |
G |
4: 49,447,679 (GRCm39) |
Y283H |
probably benign |
Het |
| Adamtsl5 |
A |
G |
10: 80,180,736 (GRCm39) |
C109R |
probably damaging |
Het |
| Adgrg4 |
T |
G |
X: 55,977,703 (GRCm39) |
L2193V |
probably damaging |
Het |
| Alpk3 |
C |
T |
7: 80,744,703 (GRCm39) |
S1266F |
probably damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,473,457 (GRCm39) |
L1614P |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,376,527 (GRCm39) |
R2038G |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Capza2 |
T |
C |
6: 17,656,449 (GRCm39) |
|
probably null |
Het |
| Cfap43 |
T |
C |
19: 47,740,352 (GRCm39) |
T1274A |
probably benign |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Cisd3 |
A |
G |
11: 97,579,212 (GRCm39) |
Y115C |
probably damaging |
Het |
| Crebl2 |
A |
G |
6: 134,826,208 (GRCm39) |
E53G |
probably damaging |
Het |
| Ech1 |
T |
C |
7: 28,525,671 (GRCm39) |
S107P |
probably damaging |
Het |
| Fam3b |
C |
A |
16: 97,282,986 (GRCm39) |
|
probably null |
Het |
| Fat1 |
T |
A |
8: 45,405,383 (GRCm39) |
N711K |
probably damaging |
Het |
| Grm8 |
T |
A |
6: 27,429,431 (GRCm39) |
I488F |
probably damaging |
Het |
| Hmga2 |
C |
T |
10: 120,311,956 (GRCm39) |
G5S |
probably damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Ifit3b |
G |
T |
19: 34,589,951 (GRCm39) |
E376* |
probably null |
Het |
| Ints5 |
A |
G |
19: 8,873,808 (GRCm39) |
E589G |
probably damaging |
Het |
| Iqsec2 |
C |
T |
X: 150,992,049 (GRCm39) |
T562I |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,821,964 (GRCm39) |
E1304G |
probably benign |
Het |
| Ltv1 |
T |
C |
10: 13,066,323 (GRCm39) |
Y101C |
probably benign |
Het |
| Maf1 |
T |
C |
15: 76,236,357 (GRCm39) |
|
probably benign |
Het |
| Map3k13 |
A |
T |
16: 21,717,321 (GRCm39) |
K185N |
possibly damaging |
Het |
| Mtcl3 |
T |
C |
10: 29,023,351 (GRCm39) |
S233P |
probably benign |
Het |
| Mtus2 |
A |
T |
5: 148,013,432 (GRCm39) |
Q75L |
probably benign |
Het |
| Nod2 |
T |
A |
8: 89,391,019 (GRCm39) |
F427Y |
probably damaging |
Het |
| Or1s2 |
A |
T |
19: 13,758,275 (GRCm39) |
I100F |
probably benign |
Het |
| Or5p51 |
A |
G |
7: 107,444,469 (GRCm39) |
L157P |
probably damaging |
Het |
| Pik3cg |
T |
C |
12: 32,254,091 (GRCm39) |
D632G |
probably damaging |
Het |
| Plekhs1 |
A |
G |
19: 56,468,326 (GRCm39) |
D298G |
probably benign |
Het |
| Rbm34 |
T |
C |
8: 127,676,131 (GRCm39) |
T375A |
probably benign |
Het |
| Slc4a7 |
C |
T |
14: 14,765,665 (GRCm38) |
T549I |
probably damaging |
Het |
| Slco1a7 |
T |
C |
6: 141,657,844 (GRCm39) |
I565V |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 35,915,451 (GRCm39) |
V2028I |
probably benign |
Het |
| Tle4 |
A |
T |
19: 14,495,302 (GRCm39) |
H142Q |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,897,636 (GRCm39) |
Q804* |
probably null |
Het |
| Trpm2 |
T |
C |
10: 77,765,053 (GRCm39) |
I983V |
probably benign |
Het |
| Ttll8 |
C |
T |
15: 88,799,783 (GRCm39) |
A553T |
possibly damaging |
Het |
| Ubxn11 |
G |
T |
4: 133,843,431 (GRCm39) |
E171D |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAGCACTCTACCTCATGAG -3'
(R):5'- GTGTCTGTGAATTTCCTCATCATG -3'
Sequencing Primer
(F):5'- GCACTCTACCTCATGAGCTATAC -3'
(R):5'- CTTCCTAATTGGGAGTTCAGTGG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation