Incidental Mutation 'IGL02102:Jak1'
| ID |
279788 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Jak1
|
| Ensembl Gene |
ENSMUSG00000028530 |
| Gene Name |
Janus kinase 1 |
| Synonyms |
C130039L05Rik, BAP004 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02102
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
101009564-101122479 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101016283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 827
(M827T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099842
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102781]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102781
AA Change: M827T
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099842
Gene: ENSMUSG00000028530
AA Change: M827T
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
32 |
286 |
2.45e-58 |
SMART |
|
Blast:B41
|
291 |
420 |
4e-51 |
BLAST |
|
SH2
|
437 |
531 |
1.85e-13 |
SMART |
|
STYKc
|
582 |
844 |
6.72e-14 |
SMART |
|
TyrKc
|
874 |
1148 |
9.01e-122 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151235
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane protein that is a member of a class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The encoded kinase phosphorylates STAT proteins (signal transducers and activators of transcription) and plays a key role in interferon-alpha/beta and interferon-gamma signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for disruption of this gene die within the first 24 hours after birth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,754,420 (GRCm39) |
T1338A |
probably benign |
Het |
| Adcy3 |
G |
A |
12: 4,184,699 (GRCm39) |
C125Y |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,882,896 (GRCm39) |
K257N |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,039,407 (GRCm39) |
V497A |
possibly damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,364,167 (GRCm39) |
V684D |
probably benign |
Het |
| AW551984 |
A |
G |
9: 39,500,987 (GRCm39) |
W763R |
probably damaging |
Het |
| Blm |
G |
A |
7: 80,119,504 (GRCm39) |
T1026M |
probably damaging |
Het |
| Cd160 |
A |
G |
3: 96,712,886 (GRCm39) |
I126T |
possibly damaging |
Het |
| Cdk14 |
T |
C |
5: 5,430,083 (GRCm39) |
K15E |
probably benign |
Het |
| Cnot6l |
T |
C |
5: 96,239,518 (GRCm39) |
K261R |
probably damaging |
Het |
| Cyp3a13 |
T |
G |
5: 137,909,865 (GRCm39) |
T153P |
probably benign |
Het |
| Ddx24 |
A |
G |
12: 103,374,743 (GRCm39) |
|
probably benign |
Het |
| Dido1 |
G |
A |
2: 180,304,040 (GRCm39) |
T1288I |
possibly damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,106,208 (GRCm39) |
V322A |
possibly damaging |
Het |
| Dnajc25 |
T |
A |
4: 59,017,693 (GRCm39) |
Y117* |
probably null |
Het |
| Dsg1a |
A |
G |
18: 20,465,089 (GRCm39) |
N427D |
probably benign |
Het |
| Gabrq |
T |
G |
X: 71,871,151 (GRCm39) |
|
probably null |
Het |
| Glce |
A |
G |
9: 61,977,883 (GRCm39) |
|
probably benign |
Het |
| Gm10477 |
T |
C |
X: 55,570,761 (GRCm39) |
L45P |
probably damaging |
Het |
| Htt |
T |
A |
5: 35,048,825 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
A |
G |
17: 25,252,104 (GRCm39) |
E317G |
probably benign |
Het |
| Kalrn |
A |
G |
16: 34,040,592 (GRCm39) |
V932A |
probably damaging |
Het |
| Mdm2 |
A |
C |
10: 117,528,622 (GRCm39) |
S227R |
possibly damaging |
Het |
| Or14a259 |
T |
C |
7: 86,013,074 (GRCm39) |
Y157C |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,843,470 (GRCm39) |
|
probably benign |
Het |
| Or5ak25 |
A |
G |
2: 85,268,611 (GRCm39) |
V297A |
probably damaging |
Het |
| Or5g27 |
G |
A |
2: 85,410,017 (GRCm39) |
V145I |
probably damaging |
Het |
| Or5w22 |
T |
C |
2: 87,362,805 (GRCm39) |
F143L |
probably benign |
Het |
| Pdilt |
T |
G |
7: 119,086,173 (GRCm39) |
E514A |
probably benign |
Het |
| Pepd |
A |
G |
7: 34,645,028 (GRCm39) |
D153G |
probably damaging |
Het |
| Ptgis |
A |
T |
2: 167,067,367 (GRCm39) |
V70E |
probably damaging |
Het |
| Rnf112 |
T |
C |
11: 61,342,841 (GRCm39) |
K262E |
probably benign |
Het |
| Setd5 |
G |
T |
6: 113,127,946 (GRCm39) |
G1300* |
probably null |
Het |
| Snx15 |
A |
G |
19: 6,172,104 (GRCm39) |
L113P |
possibly damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,087,427 (GRCm39) |
D1004G |
probably damaging |
Het |
| Ston2 |
A |
C |
12: 91,606,498 (GRCm39) |
*896G |
probably null |
Het |
| Suco |
A |
G |
1: 161,655,274 (GRCm39) |
S1073P |
probably damaging |
Het |
| Susd1 |
A |
C |
4: 59,369,636 (GRCm39) |
D344E |
possibly damaging |
Het |
| Trnt1 |
G |
T |
6: 106,755,073 (GRCm39) |
|
probably null |
Het |
| Ttll12 |
A |
G |
15: 83,466,264 (GRCm39) |
F399S |
probably damaging |
Het |
| Vmn1r124 |
C |
T |
7: 20,994,467 (GRCm39) |
V26I |
probably benign |
Het |
| Vmn1r52 |
T |
A |
6: 90,156,189 (GRCm39) |
N164K |
possibly damaging |
Het |
| Vmn1r56 |
A |
T |
7: 5,199,335 (GRCm39) |
M94K |
possibly damaging |
Het |
| Vmn1r80 |
T |
C |
7: 11,927,618 (GRCm39) |
F243L |
probably damaging |
Het |
| Zdhhc8 |
G |
A |
16: 18,043,063 (GRCm39) |
S379F |
possibly damaging |
Het |
|
| Other mutations in Jak1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00906:Jak1
|
APN |
4 |
101,011,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00990:Jak1
|
APN |
4 |
101,028,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01341:Jak1
|
APN |
4 |
101,032,290 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02720:Jak1
|
APN |
4 |
101,021,647 (GRCm39) |
splice site |
probably benign |
|
|
IGL03301:Jak1
|
APN |
4 |
101,032,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Back
|
UTSW |
4 |
101,031,408 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Behind
|
UTSW |
4 |
101,011,734 (GRCm39) |
critical splice donor site |
probably null |
|
|
Lady
|
UTSW |
4 |
101,036,738 (GRCm39) |
nonsense |
probably null |
|
|
Wordless
|
UTSW |
4 |
101,013,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB006:Jak1
|
UTSW |
4 |
101,011,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB016:Jak1
|
UTSW |
4 |
101,011,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4377001:Jak1
|
UTSW |
4 |
101,036,748 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0308:Jak1
|
UTSW |
4 |
101,011,732 (GRCm39) |
splice site |
probably null |
|
|
R0544:Jak1
|
UTSW |
4 |
101,048,822 (GRCm39) |
missense |
probably benign |
|
|
R1212:Jak1
|
UTSW |
4 |
101,046,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1519:Jak1
|
UTSW |
4 |
101,020,119 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1627:Jak1
|
UTSW |
4 |
101,048,821 (GRCm39) |
splice site |
probably null |
|
|
R1760:Jak1
|
UTSW |
4 |
101,020,126 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2116:Jak1
|
UTSW |
4 |
101,036,872 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2980:Jak1
|
UTSW |
4 |
101,036,978 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3738:Jak1
|
UTSW |
4 |
101,048,665 (GRCm39) |
unclassified |
probably benign |
|
|
R3779:Jak1
|
UTSW |
4 |
101,013,687 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4172:Jak1
|
UTSW |
4 |
101,016,329 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4505:Jak1
|
UTSW |
4 |
101,011,800 (GRCm39) |
missense |
probably benign |
|
|
R4602:Jak1
|
UTSW |
4 |
101,036,791 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4755:Jak1
|
UTSW |
4 |
101,031,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4836:Jak1
|
UTSW |
4 |
101,012,263 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4908:Jak1
|
UTSW |
4 |
101,036,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5116:Jak1
|
UTSW |
4 |
101,012,310 (GRCm39) |
missense |
probably benign |
|
|
R6190:Jak1
|
UTSW |
4 |
101,032,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6339:Jak1
|
UTSW |
4 |
101,019,123 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6500:Jak1
|
UTSW |
4 |
101,039,130 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6551:Jak1
|
UTSW |
4 |
101,051,040 (GRCm39) |
start gained |
probably benign |
|
|
R6895:Jak1
|
UTSW |
4 |
101,011,734 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7163:Jak1
|
UTSW |
4 |
101,032,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7204:Jak1
|
UTSW |
4 |
101,032,332 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7361:Jak1
|
UTSW |
4 |
101,041,536 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7408:Jak1
|
UTSW |
4 |
101,032,379 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7513:Jak1
|
UTSW |
4 |
101,048,848 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7617:Jak1
|
UTSW |
4 |
101,031,408 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7779:Jak1
|
UTSW |
4 |
101,017,339 (GRCm39) |
missense |
probably benign |
|
|
R7929:Jak1
|
UTSW |
4 |
101,011,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8282:Jak1
|
UTSW |
4 |
101,036,738 (GRCm39) |
nonsense |
probably null |
|
|
R8694:Jak1
|
UTSW |
4 |
101,013,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8945:Jak1
|
UTSW |
4 |
101,020,109 (GRCm39) |
missense |
probably benign |
|
|
R9244:Jak1
|
UTSW |
4 |
101,015,040 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9671:Jak1
|
UTSW |
4 |
101,034,926 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9681:Jak1
|
UTSW |
4 |
101,019,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9747:Jak1
|
UTSW |
4 |
101,016,087 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1176:Jak1
|
UTSW |
4 |
101,020,919 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1176:Jak1
|
UTSW |
4 |
101,020,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation