Incidental Mutation 'R9244:Jak1'
| ID |
701141 |
| 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 # |
R9244 (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 101015040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 917
(H917R)
|
| 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: H917R
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000099842
Gene: ENSMUSG00000028530
AA Change: H917R
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (55/55) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,241,577 (GRCm39) |
I1147V |
probably benign |
Het |
| Adcy10 |
A |
G |
1: 165,370,679 (GRCm39) |
T653A |
probably benign |
Het |
| App |
A |
G |
16: 84,759,629 (GRCm39) |
I656T |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,397,879 (GRCm39) |
I574N |
possibly damaging |
Het |
| Cdc42 |
T |
C |
4: 137,056,391 (GRCm39) |
T75A |
probably benign |
Het |
| Cdh23 |
C |
A |
10: 60,249,442 (GRCm39) |
K822N |
possibly damaging |
Het |
| Chrnb3 |
T |
A |
8: 27,884,594 (GRCm39) |
L444I |
unknown |
Het |
| Ctnnbl1 |
G |
T |
2: 157,678,583 (GRCm39) |
K395N |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,026,316 (GRCm39) |
I1808K |
probably benign |
Het |
| Dnajb8 |
C |
A |
6: 88,199,884 (GRCm39) |
P140Q |
probably damaging |
Het |
| Dock5 |
G |
A |
14: 67,996,563 (GRCm39) |
R1727W |
probably damaging |
Het |
| Dscam |
G |
A |
16: 96,486,429 (GRCm39) |
T1082I |
possibly damaging |
Het |
| Eaf1 |
T |
C |
14: 31,219,766 (GRCm39) |
|
probably benign |
Het |
| Elapor2 |
A |
G |
5: 9,460,700 (GRCm39) |
Y207C |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,654,689 (GRCm39) |
D663G |
probably damaging |
Het |
| Epha5 |
A |
G |
5: 84,265,441 (GRCm39) |
V451A |
probably benign |
Het |
| Erap1 |
G |
A |
13: 74,821,903 (GRCm39) |
|
probably null |
Het |
| Esco2 |
A |
G |
14: 66,059,088 (GRCm39) |
W530R |
probably damaging |
Het |
| Fhip1b |
A |
G |
7: 105,038,870 (GRCm39) |
V123A |
possibly damaging |
Het |
| Fhod3 |
T |
C |
18: 25,248,922 (GRCm39) |
I1367T |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,348,862 (GRCm39) |
|
probably benign |
Het |
| Get1 |
A |
G |
16: 95,955,383 (GRCm39) |
T147A |
probably benign |
Het |
| Gm42669 |
A |
G |
5: 107,656,370 (GRCm39) |
T295A |
possibly damaging |
Het |
| Harbi1 |
A |
G |
2: 91,543,040 (GRCm39) |
N167S |
probably damaging |
Het |
| Hfm1 |
A |
C |
5: 107,022,766 (GRCm39) |
N945K |
probably damaging |
Het |
| Hook3 |
A |
G |
8: 26,561,084 (GRCm39) |
|
probably null |
Het |
| Htr1f |
G |
T |
16: 64,746,857 (GRCm39) |
T145K |
probably benign |
Het |
| Igf2bp2 |
A |
C |
16: 21,886,901 (GRCm39) |
S453A |
possibly damaging |
Het |
| Ipo4 |
A |
T |
14: 55,871,799 (GRCm39) |
W116R |
probably damaging |
Het |
| Klrb1b |
A |
T |
6: 128,792,245 (GRCm39) |
C189* |
probably null |
Het |
| Lrrn2 |
A |
G |
1: 132,865,058 (GRCm39) |
Y41C |
probably damaging |
Het |
| Lrrn2 |
T |
C |
1: 132,865,237 (GRCm39) |
S101P |
probably damaging |
Het |
| Mcmdc2 |
C |
T |
1: 9,985,835 (GRCm39) |
T127I |
probably damaging |
Het |
| Mtch1 |
C |
A |
17: 29,566,626 (GRCm39) |
A46S |
unknown |
Het |
| Ndufb5 |
C |
A |
3: 32,795,906 (GRCm39) |
Q33K |
probably null |
Het |
| Nufip2 |
T |
C |
11: 77,583,475 (GRCm39) |
V463A |
probably damaging |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or2r3 |
T |
A |
6: 42,448,537 (GRCm39) |
I192F |
possibly damaging |
Het |
| Or5p62 |
A |
G |
7: 107,771,852 (GRCm39) |
I33T |
probably benign |
Het |
| Or6d12 |
G |
A |
6: 116,492,782 (GRCm39) |
V15I |
probably benign |
Het |
| Or8j3c |
A |
T |
2: 86,253,423 (GRCm39) |
V199E |
probably damaging |
Het |
| Pira13 |
T |
C |
7: 3,825,226 (GRCm39) |
D472G |
unknown |
Het |
| Ppip5k1 |
A |
C |
2: 121,164,932 (GRCm39) |
S972A |
probably benign |
Het |
| Prl8a2 |
A |
T |
13: 27,534,982 (GRCm39) |
M86L |
probably benign |
Het |
| Prorsd1 |
T |
C |
11: 29,463,271 (GRCm39) |
I164V |
probably benign |
Het |
| Ptgs1 |
A |
G |
2: 36,130,724 (GRCm39) |
T208A |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,254,915 (GRCm39) |
|
probably null |
Het |
| Reln |
T |
C |
5: 22,120,151 (GRCm39) |
R2834G |
probably damaging |
Het |
| Shc4 |
G |
T |
2: 125,497,589 (GRCm39) |
Y373* |
probably null |
Het |
| Skor1 |
A |
T |
9: 63,049,524 (GRCm39) |
|
probably null |
Het |
| Slc9a4 |
T |
C |
1: 40,658,249 (GRCm39) |
S591P |
probably damaging |
Het |
| Stat2 |
A |
G |
10: 128,118,634 (GRCm39) |
E389G |
possibly damaging |
Het |
| Trav14n-3 |
C |
A |
14: 53,608,004 (GRCm39) |
D111E |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,533,370 (GRCm39) |
S873G |
probably benign |
Het |
| Vmn1r210 |
T |
C |
13: 23,012,089 (GRCm39) |
I66V |
probably benign |
Het |
| Vmn2r117 |
T |
A |
17: 23,696,589 (GRCm39) |
I273F |
probably damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,672,189 (GRCm39) |
M714K |
possibly damaging |
Het |
| Zfp235 |
A |
G |
7: 23,839,919 (GRCm39) |
T113A |
probably benign |
Het |
| Zranb1 |
T |
G |
7: 132,585,640 (GRCm39) |
L696R |
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 |
|
|
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'- AAGGACCTTGTTGTTGTGAGAC -3'
(R):5'- AAGGCATTTCCTCAGCGGATC -3'
Sequencing Primer
(F):5'- TGAGACCTGAATGTCTGACAGCC -3'
(R):5'- CCTCAGCGGATCTAGCTTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation