Incidental Mutation 'IGL01341:Jak1'
| ID |
74863 |
| 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 # |
IGL01341
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
101009564-101122479 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101032290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 439
(G439S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099842
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102781]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102781
AA Change: G439S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099842
Gene: ENSMUSG00000028530
AA Change: G439S
| 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: ENSMUST00000136167
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
A |
19: 8,989,067 (GRCm39) |
H3450Q |
probably benign |
Het |
| Arcn1 |
A |
G |
9: 44,668,489 (GRCm39) |
I249T |
possibly damaging |
Het |
| Arhgef5 |
G |
A |
6: 43,260,925 (GRCm39) |
R1450H |
probably damaging |
Het |
| Cdh26 |
A |
T |
2: 178,099,240 (GRCm39) |
D113V |
probably damaging |
Het |
| Cnot4 |
A |
G |
6: 35,047,189 (GRCm39) |
V141A |
probably damaging |
Het |
| Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
| Ctsll3 |
C |
T |
13: 60,946,813 (GRCm39) |
D269N |
probably benign |
Het |
| Dnttip2 |
T |
C |
3: 122,070,261 (GRCm39) |
I492T |
probably damaging |
Het |
| Gimap8 |
A |
G |
6: 48,635,701 (GRCm39) |
S489G |
probably damaging |
Het |
| Glra2 |
T |
C |
X: 164,107,562 (GRCm39) |
D46G |
probably damaging |
Het |
| Gm7094 |
A |
G |
1: 21,343,107 (GRCm39) |
|
noncoding transcript |
Het |
| Gmps |
T |
C |
3: 63,922,861 (GRCm39) |
I608T |
probably damaging |
Het |
| Gzma |
A |
G |
13: 113,230,418 (GRCm39) |
|
probably benign |
Het |
| H2-Q4 |
T |
A |
17: 35,601,978 (GRCm39) |
V280E |
probably damaging |
Het |
| Kars1 |
T |
C |
8: 112,721,606 (GRCm39) |
I556V |
probably benign |
Het |
| Kifc2 |
T |
C |
15: 76,547,098 (GRCm39) |
|
probably null |
Het |
| Kit |
T |
C |
5: 75,767,734 (GRCm39) |
I39T |
probably damaging |
Het |
| Map3k6 |
G |
T |
4: 132,975,371 (GRCm39) |
R702L |
possibly damaging |
Het |
| Marveld3 |
T |
A |
8: 110,675,049 (GRCm39) |
T256S |
possibly damaging |
Het |
| Nkd1 |
G |
A |
8: 89,318,180 (GRCm39) |
|
probably benign |
Het |
| Or5aq6 |
T |
A |
2: 86,923,643 (GRCm39) |
I33L |
probably benign |
Het |
| Or6c212 |
G |
A |
10: 129,558,747 (GRCm39) |
T222I |
possibly damaging |
Het |
| Pax2 |
A |
G |
19: 44,779,127 (GRCm39) |
S167G |
probably damaging |
Het |
| Pdlim3 |
T |
A |
8: 46,368,277 (GRCm39) |
D258E |
probably benign |
Het |
| Ppip5k1 |
A |
T |
2: 121,173,691 (GRCm39) |
C393* |
probably null |
Het |
| Pxdn |
T |
C |
12: 30,052,486 (GRCm39) |
S888P |
probably damaging |
Het |
| Relb |
T |
C |
7: 19,350,298 (GRCm39) |
I218V |
probably benign |
Het |
| Reln |
T |
A |
5: 22,174,077 (GRCm39) |
I2009F |
probably damaging |
Het |
| Sec23b |
T |
C |
2: 144,427,653 (GRCm39) |
S627P |
probably benign |
Het |
| Slc2a8 |
T |
A |
2: 32,866,003 (GRCm39) |
Q39L |
probably damaging |
Het |
| Tmem143 |
T |
C |
7: 45,565,558 (GRCm39) |
Y340H |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,560,663 (GRCm39) |
V29246A |
probably damaging |
Het |
| Wdr81 |
T |
C |
11: 75,336,427 (GRCm39) |
D1654G |
probably damaging |
Het |
| Zbtb11 |
T |
G |
16: 55,811,294 (GRCm39) |
L484R |
possibly damaging |
Het |
| Zcchc8 |
A |
G |
5: 123,842,632 (GRCm39) |
V367A |
probably benign |
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 |
|
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 |
2013-10-07 |
Incidental Mutation