Incidental Mutation 'IGL00906:Jak1'
ID |
27215 |
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 # |
IGL00906
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
101009564-101122479 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 101011826 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 1092
(G1092D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099842
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038463]
[ENSMUST00000102781]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038463
|
SMART Domains |
Protein: ENSMUSP00000043142 Gene: ENSMUSG00000035275
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
29 |
N/A |
INTRINSIC |
RRM
|
59 |
125 |
8.2e-11 |
SMART |
RRM
|
132 |
205 |
1.67e-11 |
SMART |
RRM
|
221 |
294 |
2.12e-4 |
SMART |
low complexity region
|
362 |
379 |
N/A |
INTRINSIC |
low complexity region
|
499 |
512 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102781
AA Change: G1092D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099842 Gene: ENSMUSG00000028530 AA Change: G1092D
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
A |
G |
5: 125,580,338 (GRCm39) |
E221G |
probably benign |
Het |
Alb |
A |
G |
5: 90,619,932 (GRCm39) |
N453S |
probably benign |
Het |
Bckdha |
C |
T |
7: 25,332,767 (GRCm39) |
V183M |
probably benign |
Het |
Brpf3 |
A |
G |
17: 29,055,674 (GRCm39) |
|
probably benign |
Het |
Ccdc163 |
T |
C |
4: 116,567,487 (GRCm39) |
|
probably null |
Het |
Ccdc178 |
A |
T |
18: 22,268,225 (GRCm39) |
C87* |
probably null |
Het |
Cfhr4 |
A |
T |
1: 139,659,312 (GRCm39) |
V739E |
probably damaging |
Het |
Clca4a |
A |
G |
3: 144,660,700 (GRCm39) |
V708A |
probably damaging |
Het |
Cyfip2 |
A |
G |
11: 46,091,512 (GRCm39) |
V1136A |
possibly damaging |
Het |
Dnah11 |
A |
C |
12: 117,874,937 (GRCm39) |
L3976R |
probably damaging |
Het |
Erich1 |
A |
G |
8: 14,083,770 (GRCm39) |
|
probably benign |
Het |
Fam228a |
A |
T |
12: 4,782,773 (GRCm39) |
Y107N |
possibly damaging |
Het |
Iars2 |
A |
T |
1: 185,028,600 (GRCm39) |
|
probably benign |
Het |
Ifi204 |
A |
G |
1: 173,587,197 (GRCm39) |
|
probably benign |
Het |
Ifih1 |
A |
T |
2: 62,476,168 (GRCm39) |
I36N |
probably benign |
Het |
Kir3dl2 |
G |
A |
X: 135,357,097 (GRCm39) |
P122S |
probably damaging |
Het |
Nacc2 |
T |
C |
2: 25,951,678 (GRCm39) |
T386A |
probably damaging |
Het |
Nrf1 |
C |
T |
6: 30,098,477 (GRCm39) |
T135M |
probably damaging |
Het |
Or4k15 |
A |
G |
14: 50,364,214 (GRCm39) |
Y60C |
probably damaging |
Het |
Or51i2 |
G |
A |
7: 103,689,051 (GRCm39) |
G16D |
probably damaging |
Het |
Pcca |
A |
C |
14: 122,927,545 (GRCm39) |
D436A |
probably benign |
Het |
Pcdhb11 |
A |
T |
18: 37,555,174 (GRCm39) |
Q168L |
possibly damaging |
Het |
Pdgfra |
A |
G |
5: 75,340,834 (GRCm39) |
I598V |
probably benign |
Het |
Pla2g6 |
C |
T |
15: 79,171,947 (GRCm39) |
V637I |
probably damaging |
Het |
Plac1 |
A |
C |
X: 52,159,593 (GRCm39) |
V39G |
probably damaging |
Het |
Pparg |
A |
G |
6: 115,416,822 (GRCm39) |
E5G |
probably damaging |
Het |
Ppp1r9a |
A |
G |
6: 5,157,023 (GRCm39) |
D967G |
possibly damaging |
Het |
Rel |
T |
C |
11: 23,694,266 (GRCm39) |
T322A |
probably benign |
Het |
Sgk3 |
A |
G |
1: 9,947,470 (GRCm39) |
T137A |
probably benign |
Het |
Sgpp2 |
A |
G |
1: 78,367,184 (GRCm39) |
R106G |
probably benign |
Het |
Slc27a5 |
T |
A |
7: 12,724,984 (GRCm39) |
M459L |
probably benign |
Het |
Snx21 |
T |
C |
2: 164,628,140 (GRCm39) |
L52P |
probably damaging |
Het |
Srarp |
G |
A |
4: 141,160,584 (GRCm39) |
T83M |
probably benign |
Het |
Sstr2 |
A |
G |
11: 113,515,821 (GRCm39) |
R247G |
probably benign |
Het |
Tnpo3 |
G |
A |
6: 29,589,047 (GRCm39) |
S101L |
probably damaging |
Het |
Zan |
A |
G |
5: 137,387,622 (GRCm39) |
I4863T |
unknown |
Het |
|
Other mutations in Jak1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02102:Jak1
|
APN |
4 |
101,016,283 (GRCm39) |
missense |
probably benign |
0.11 |
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 |
2013-04-17 |