Incidental Mutation 'R1576:Stk17b'
| ID |
171140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk17b
|
| Ensembl Gene |
ENSMUSG00000026094 |
| Gene Name |
serine/threonine kinase 17b (apoptosis-inducing) |
| Synonyms |
3110009A03Rik, Drak2 |
| MMRRC Submission |
039614-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R1576 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
53794671-53824374 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 53796749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 339
(D339E)
|
| 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: D339E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027263
Gene: ENSMUSG00000026094
AA Change: D339E
| 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
|
| Meta Mutation Damage Score |
0.0803 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.1%
|
| Validation Efficiency |
100% (49/49) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3m2 |
G |
A |
8: 23,298,483 (GRCm39) |
|
probably benign |
Het |
| Apol11a |
T |
A |
15: 77,401,131 (GRCm39) |
I206N |
probably damaging |
Het |
| Arfgap3 |
A |
G |
15: 83,197,764 (GRCm39) |
S331P |
possibly damaging |
Het |
| Arhgef16 |
A |
C |
4: 154,375,769 (GRCm39) |
L75R |
probably damaging |
Het |
| Cfi |
T |
C |
3: 129,666,699 (GRCm39) |
V474A |
probably damaging |
Het |
| Dhx8 |
T |
C |
11: 101,643,145 (GRCm39) |
V739A |
probably damaging |
Het |
| Dpy19l2 |
T |
A |
9: 24,495,798 (GRCm39) |
H640L |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,824,181 (GRCm39) |
M57K |
probably damaging |
Het |
| Emilin2 |
A |
G |
17: 71,562,112 (GRCm39) |
|
probably null |
Het |
| Epc1 |
T |
C |
18: 6,452,366 (GRCm39) |
E281G |
possibly damaging |
Het |
| Fancd2 |
G |
T |
6: 113,555,366 (GRCm39) |
S1125I |
probably damaging |
Het |
| Fh1 |
G |
A |
1: 175,435,385 (GRCm39) |
P366L |
probably null |
Het |
| Gata3 |
A |
T |
2: 9,868,007 (GRCm39) |
S316T |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,532,992 (GRCm39) |
S3064T |
possibly damaging |
Het |
| Inpp5d |
A |
T |
1: 87,597,407 (GRCm39) |
T193S |
probably benign |
Het |
| Inpp5d |
A |
T |
1: 87,609,280 (GRCm39) |
I277F |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,260,044 (GRCm39) |
D616G |
probably damaging |
Het |
| Jade1 |
T |
A |
3: 41,546,242 (GRCm39) |
V89E |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,357,506 (GRCm39) |
S81P |
probably damaging |
Het |
| Lrrc19 |
G |
A |
4: 94,527,590 (GRCm39) |
P207L |
probably damaging |
Het |
| Maea |
A |
G |
5: 33,520,040 (GRCm39) |
D147G |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,214,437 (GRCm39) |
E2767V |
possibly damaging |
Het |
| Myom2 |
A |
G |
8: 15,134,556 (GRCm39) |
Y453C |
probably damaging |
Het |
| Naip2 |
A |
T |
13: 100,291,529 (GRCm39) |
D1136E |
probably benign |
Het |
| Naip2 |
G |
A |
13: 100,291,537 (GRCm39) |
|
probably benign |
Het |
| Nap1l1 |
A |
G |
10: 111,330,681 (GRCm39) |
D362G |
probably damaging |
Het |
| Nap1l4 |
C |
T |
7: 143,091,953 (GRCm39) |
|
probably null |
Het |
| Nudt21 |
A |
C |
8: 94,755,461 (GRCm39) |
|
probably null |
Het |
| Nufip1 |
A |
G |
14: 76,372,310 (GRCm39) |
N475D |
probably benign |
Het |
| Pcdhb8 |
A |
G |
18: 37,489,756 (GRCm39) |
D478G |
probably damaging |
Het |
| Pla2g4d |
A |
G |
2: 120,114,648 (GRCm39) |
S28P |
probably damaging |
Het |
| Polr2j |
C |
A |
5: 136,148,882 (GRCm39) |
N29K |
probably damaging |
Het |
| Ppp2r2a |
A |
G |
14: 67,276,318 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,427,647 (GRCm39) |
D742G |
probably damaging |
Het |
| Pum2 |
A |
G |
12: 8,763,524 (GRCm39) |
D227G |
probably benign |
Het |
| Rfxank |
C |
A |
8: 70,586,953 (GRCm39) |
R221L |
possibly damaging |
Het |
| Shank3 |
C |
A |
15: 89,387,866 (GRCm39) |
Q317K |
probably benign |
Het |
| Slc22a17 |
A |
G |
14: 55,145,447 (GRCm39) |
V460A |
probably damaging |
Het |
| Slc39a11 |
G |
T |
11: 113,450,361 (GRCm39) |
D41E |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 99,846,679 (GRCm39) |
S68P |
possibly damaging |
Het |
| Sstr5 |
C |
T |
17: 25,710,272 (GRCm39) |
C319Y |
possibly damaging |
Het |
| Tagln2 |
A |
G |
1: 172,332,788 (GRCm39) |
D25G |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,625,194 (GRCm39) |
V13417I |
probably benign |
Het |
| Vps50 |
A |
G |
6: 3,545,568 (GRCm39) |
E334G |
possibly damaging |
Het |
| Zfp316 |
T |
C |
5: 143,249,849 (GRCm39) |
E138G |
unknown |
Het |
| Zfp879 |
T |
A |
11: 50,724,376 (GRCm39) |
T227S |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACAGCATTTCCCCAAACAGATTCTC -3'
(R):5'- TCTCTGCTTTCTGCCAAAGGAAAAGAC -3'
Sequencing Primer
(F):5'- GGTATAGGGCTTACCTTAGAACC -3'
(R):5'- AGACCAACAGCAGAATCCTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation