Incidental Mutation 'R6500:Jak1'
| ID |
519661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jak1
|
| Ensembl Gene |
ENSMUSG00000028530 |
| Gene Name |
Janus kinase 1 |
| Synonyms |
C130039L05Rik, BAP004 |
| MMRRC Submission |
044632-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6500 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
101009564-101122479 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101039130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 165
(D165G)
|
| 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: D165G
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099842
Gene: ENSMUSG00000028530
AA Change: D165G
| 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: ENSMUST00000104489
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132292
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136167
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147211
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155328
|
| Meta Mutation Damage Score |
0.3418 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (53/54) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
A |
G |
12: 81,606,380 (GRCm39) |
F461L |
probably benign |
Het |
| Adamtsl3 |
C |
A |
7: 82,227,818 (GRCm39) |
H1334Q |
probably benign |
Het |
| Adgrf1 |
A |
G |
17: 43,621,263 (GRCm39) |
N500S |
probably damaging |
Het |
| Afdn |
A |
G |
17: 14,042,634 (GRCm39) |
D335G |
possibly damaging |
Het |
| Arhgap19 |
G |
A |
19: 41,775,077 (GRCm39) |
T178M |
probably damaging |
Het |
| Chac2 |
T |
C |
11: 30,927,625 (GRCm39) |
D86G |
probably damaging |
Het |
| Clhc1 |
T |
C |
11: 29,510,542 (GRCm39) |
S209P |
possibly damaging |
Het |
| Col1a2 |
G |
A |
6: 4,515,517 (GRCm39) |
G127S |
unknown |
Het |
| Coro2b |
A |
G |
9: 62,396,606 (GRCm39) |
F51L |
probably benign |
Het |
| Cux2 |
A |
G |
5: 122,002,789 (GRCm39) |
S1139P |
probably benign |
Het |
| Cyth3 |
A |
T |
5: 143,693,595 (GRCm39) |
I379F |
probably damaging |
Het |
| Dock2 |
A |
T |
11: 34,312,822 (GRCm39) |
L240H |
possibly damaging |
Het |
| Ercc6 |
A |
G |
14: 32,248,780 (GRCm39) |
K444E |
probably damaging |
Het |
| Fam3b |
A |
G |
16: 97,302,101 (GRCm39) |
L52P |
possibly damaging |
Het |
| Fat4 |
T |
G |
3: 39,035,418 (GRCm39) |
Y3023* |
probably null |
Het |
| Gad1 |
A |
T |
2: 70,423,780 (GRCm39) |
N396Y |
probably damaging |
Het |
| Gbp2b |
A |
G |
3: 142,317,252 (GRCm39) |
E536G |
probably benign |
Het |
| Gm11564 |
G |
A |
11: 99,706,061 (GRCm39) |
T123I |
unknown |
Het |
| Herc2 |
G |
T |
7: 55,796,393 (GRCm39) |
E1922* |
probably null |
Het |
| Hrh4 |
G |
T |
18: 13,155,525 (GRCm39) |
V355F |
probably damaging |
Het |
| Isyna1 |
A |
G |
8: 71,047,339 (GRCm39) |
I21V |
probably damaging |
Het |
| Klhl38 |
C |
A |
15: 58,185,809 (GRCm39) |
G307* |
probably null |
Het |
| Krt77 |
T |
C |
15: 101,772,772 (GRCm39) |
N269S |
probably damaging |
Het |
| Lrp4 |
T |
A |
2: 91,322,765 (GRCm39) |
I1118N |
possibly damaging |
Het |
| Ly6i |
T |
C |
15: 74,853,833 (GRCm39) |
Y30C |
probably damaging |
Het |
| Magi2 |
A |
G |
5: 20,807,345 (GRCm39) |
E620G |
possibly damaging |
Het |
| Mbl2 |
A |
G |
19: 30,216,839 (GRCm39) |
D217G |
possibly damaging |
Het |
| Mogat2 |
T |
A |
7: 98,871,553 (GRCm39) |
I253F |
probably benign |
Het |
| Mpped2 |
T |
C |
2: 106,691,925 (GRCm39) |
L210P |
probably damaging |
Het |
| Nav3 |
C |
A |
10: 109,600,617 (GRCm39) |
A1337S |
probably damaging |
Het |
| Ncaph2 |
T |
A |
15: 89,248,407 (GRCm39) |
V206E |
probably benign |
Het |
| Nlgn1 |
T |
C |
3: 25,488,094 (GRCm39) |
E747G |
possibly damaging |
Het |
| Nlrc3 |
C |
T |
16: 3,770,308 (GRCm39) |
G237D |
possibly damaging |
Het |
| Nsun7 |
A |
G |
5: 66,452,827 (GRCm39) |
D514G |
probably benign |
Het |
| Or10al5 |
C |
G |
17: 38,063,577 (GRCm39) |
D277E |
probably damaging |
Het |
| Pals2 |
A |
G |
6: 50,175,146 (GRCm39) |
K500E |
possibly damaging |
Het |
| Pcnx2 |
C |
A |
8: 126,480,224 (GRCm39) |
V2028F |
probably damaging |
Het |
| Pdx1 |
G |
T |
5: 147,207,440 (GRCm39) |
W131L |
probably damaging |
Het |
| Pkdrej |
C |
T |
15: 85,703,747 (GRCm39) |
V730I |
probably damaging |
Het |
| Plcg1 |
T |
A |
2: 160,596,487 (GRCm39) |
Y669N |
probably damaging |
Het |
| Plpp1 |
G |
T |
13: 113,003,454 (GRCm39) |
W226L |
probably damaging |
Het |
| Sfxn1 |
G |
A |
13: 54,242,918 (GRCm39) |
V59I |
probably benign |
Het |
| Shank1 |
T |
C |
7: 43,976,645 (GRCm39) |
I581T |
unknown |
Het |
| Slc35f6 |
A |
C |
5: 30,814,164 (GRCm39) |
K150N |
possibly damaging |
Het |
| Slc5a7 |
A |
T |
17: 54,591,231 (GRCm39) |
S234T |
probably benign |
Het |
| Smg6 |
C |
T |
11: 74,821,331 (GRCm39) |
T534I |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,573,724 (GRCm39) |
T3649I |
probably benign |
Het |
| Vmn1r158 |
T |
C |
7: 22,490,078 (GRCm39) |
T44A |
possibly damaging |
Het |
| Vmn1r217 |
A |
T |
13: 23,298,073 (GRCm39) |
Y276* |
probably null |
Het |
| Vmn2r100 |
T |
A |
17: 19,742,355 (GRCm39) |
I243N |
probably damaging |
Het |
| Vwde |
T |
C |
6: 13,208,404 (GRCm39) |
|
probably null |
Het |
| Washc4 |
C |
A |
10: 83,394,687 (GRCm39) |
P306T |
probably damaging |
Het |
| Wdhd1 |
C |
T |
14: 47,488,217 (GRCm39) |
|
probably null |
Het |
| Xpo6 |
T |
C |
7: 125,770,262 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCATCAGGAAGGCGTACC -3'
(R):5'- TTCACCAGCACCTTGACAG -3'
Sequencing Primer
(F):5'- ACCTGATGTCTTTGGGAAGTTCC -3'
(R):5'- GGAGAACATATTCTTAGCTGCCTTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation