Incidental Mutation 'R9671:Jak1'
| ID |
728035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jak1
|
| Ensembl Gene |
ENSMUSG00000028530 |
| Gene Name |
Janus kinase 1 |
| Synonyms |
C130039L05Rik, BAP004 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9671 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
101009564-101122479 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101034926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 339
(K339E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099842
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102781]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102781
AA Change: K339E
PolyPhen 2
Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000099842
Gene: ENSMUSG00000028530
AA Change: K339E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
A |
5: 64,055,948 (GRCm39) |
L228* |
probably null |
Het |
| Acsf2 |
T |
C |
11: 94,460,802 (GRCm39) |
D368G |
probably benign |
Het |
| Adat2 |
T |
A |
10: 13,438,452 (GRCm39) |
N177K |
probably damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,760,795 (GRCm39) |
R830M |
probably damaging |
Het |
| Apoh |
G |
A |
11: 108,286,792 (GRCm39) |
W72* |
probably null |
Het |
| Bcl2l12 |
G |
T |
7: 44,642,301 (GRCm39) |
P195Q |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,596,282 (GRCm39) |
M470V |
probably benign |
Het |
| Ccdc188 |
A |
T |
16: 18,036,268 (GRCm39) |
R79* |
probably null |
Het |
| Cd34 |
T |
A |
1: 194,641,501 (GRCm39) |
M309K |
probably damaging |
Het |
| Clec4a2 |
A |
T |
6: 123,101,942 (GRCm39) |
K32N |
possibly damaging |
Het |
| Csmd3 |
G |
T |
15: 47,845,299 (GRCm39) |
P88H |
|
Het |
| Def6 |
A |
G |
17: 28,438,755 (GRCm39) |
S154G |
probably benign |
Het |
| Dot1l |
T |
C |
10: 80,620,613 (GRCm39) |
L530P |
probably damaging |
Het |
| Fam13a |
A |
G |
6: 58,951,014 (GRCm39) |
|
probably null |
Het |
| Fat3 |
G |
A |
9: 16,286,871 (GRCm39) |
A884V |
possibly damaging |
Het |
| Frem3 |
C |
A |
8: 81,339,134 (GRCm39) |
H476N |
probably benign |
Het |
| Gm3404 |
T |
C |
5: 146,463,031 (GRCm39) |
V71A |
probably benign |
Het |
| Hnf4g |
T |
G |
3: 3,703,273 (GRCm39) |
S53R |
probably benign |
Het |
| Ighv13-2 |
T |
C |
12: 114,321,796 (GRCm39) |
N15D |
probably benign |
Het |
| Klhl35 |
C |
G |
7: 99,117,702 (GRCm39) |
P82R |
probably benign |
Het |
| Klhl40 |
T |
A |
9: 121,607,743 (GRCm39) |
V301E |
probably benign |
Het |
| Knl1 |
A |
T |
2: 118,901,089 (GRCm39) |
N930I |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,603,217 (GRCm39) |
|
probably null |
Het |
| Mapk7 |
T |
C |
11: 61,382,498 (GRCm39) |
D68G |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 70,086,908 (GRCm39) |
H852R |
probably damaging |
Het |
| Or51a6 |
A |
T |
7: 102,604,633 (GRCm39) |
H58Q |
probably benign |
Het |
| Pkd2 |
A |
G |
5: 104,637,256 (GRCm39) |
D623G |
probably damaging |
Het |
| Pramel14 |
A |
C |
4: 143,719,687 (GRCm39) |
I226S |
probably benign |
Het |
| Rfxank |
T |
C |
8: 70,588,198 (GRCm39) |
T118A |
probably benign |
Het |
| Rxrb |
T |
A |
17: 34,252,020 (GRCm39) |
|
probably null |
Het |
| Sec14l3 |
G |
A |
11: 4,025,486 (GRCm39) |
V337M |
probably damaging |
Het |
| Sema3e |
A |
G |
5: 14,212,217 (GRCm39) |
T98A |
probably benign |
Het |
| Ska1 |
A |
T |
18: 74,333,010 (GRCm39) |
M136K |
probably damaging |
Het |
| Slc19a3 |
T |
C |
1: 83,000,297 (GRCm39) |
D240G |
probably benign |
Het |
| Snph |
T |
C |
2: 151,436,331 (GRCm39) |
Y199C |
probably damaging |
Het |
| Sorl1 |
A |
T |
9: 41,943,077 (GRCm39) |
I933N |
possibly damaging |
Het |
| Spag16 |
C |
A |
1: 69,883,495 (GRCm39) |
H75N |
probably benign |
Het |
| Spice1 |
C |
T |
16: 44,199,671 (GRCm39) |
R708C |
probably benign |
Het |
| Tet3 |
C |
A |
6: 83,381,136 (GRCm39) |
S344I |
possibly damaging |
Het |
| Trav5-4 |
A |
G |
14: 53,941,816 (GRCm39) |
E63G |
possibly damaging |
Het |
| Trp73 |
G |
A |
4: 154,148,403 (GRCm39) |
P337L |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,778,359 (GRCm39) |
F1343L |
unknown |
Het |
| Vipas39 |
T |
C |
12: 87,292,985 (GRCm39) |
H320R |
probably benign |
Het |
| Vmn2r4 |
T |
C |
3: 64,317,271 (GRCm39) |
I156V |
probably benign |
Het |
| Wdr81 |
T |
C |
11: 75,345,189 (GRCm39) |
D26G |
probably damaging |
Het |
| Zscan4d |
A |
T |
7: 10,898,945 (GRCm39) |
F111I |
probably 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 |
|
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 |
|
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'- GCCACATAGTCTCTCACCAG -3'
(R):5'- TGTAAGCCCATGATTCCCTG -3'
Sequencing Primer
(F):5'- CAGGTCTCGAGCGAGCTTAC -3'
(R):5'- GCATTTCTCTGACTTCAGGCATG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation