Incidental Mutation 'R4172:Jak1'
| ID |
318166 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jak1
|
| Ensembl Gene |
ENSMUSG00000028530 |
| Gene Name |
Janus kinase 1 |
| Synonyms |
C130039L05Rik, BAP004 |
| MMRRC Submission |
044391-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4172 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
101009564-101122479 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 101016329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 812
(V812L)
|
| 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: V812L
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000099842
Gene: ENSMUSG00000028530
AA Change: V812L
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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 |
|---|
| Akip1 |
C |
T |
7: 109,306,716 (GRCm39) |
Q138* |
probably null |
Het |
| Cdc5l |
A |
G |
17: 45,730,698 (GRCm39) |
I196T |
probably damaging |
Het |
| Dnah7b |
G |
T |
1: 46,266,106 (GRCm39) |
R2225L |
probably damaging |
Het |
| Gfra2 |
C |
A |
14: 71,133,521 (GRCm39) |
T117K |
possibly damaging |
Het |
| Gle1 |
T |
C |
2: 29,828,538 (GRCm39) |
I120T |
probably benign |
Het |
| Guf1 |
T |
A |
5: 69,715,572 (GRCm39) |
N52K |
possibly damaging |
Het |
| Helq |
T |
C |
5: 100,919,713 (GRCm39) |
K813E |
probably benign |
Het |
| Ighv7-4 |
A |
T |
12: 114,186,635 (GRCm39) |
F46I |
probably damaging |
Het |
| Il6st |
G |
A |
13: 112,631,861 (GRCm39) |
D467N |
probably benign |
Het |
| Kank4 |
G |
T |
4: 98,667,358 (GRCm39) |
T363K |
probably damaging |
Het |
| Lcat |
C |
A |
8: 106,669,059 (GRCm39) |
W72L |
possibly damaging |
Het |
| Map2 |
T |
C |
1: 66,452,759 (GRCm39) |
S392P |
possibly damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,711,358 (GRCm39) |
F456L |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,183,247 (GRCm39) |
R709W |
probably damaging |
Het |
| Nop14 |
T |
C |
5: 34,807,951 (GRCm39) |
N337S |
probably damaging |
Het |
| Npbwr1 |
A |
G |
1: 5,987,155 (GRCm39) |
Y120H |
probably damaging |
Het |
| Or4c58 |
T |
G |
2: 89,675,122 (GRCm39) |
D65A |
probably damaging |
Het |
| Oxsm |
A |
T |
14: 16,242,079 (GRCm38) |
V230E |
probably damaging |
Het |
| Paox |
G |
A |
7: 139,713,941 (GRCm39) |
G234R |
probably damaging |
Het |
| Polq |
C |
T |
16: 36,881,120 (GRCm39) |
H1095Y |
probably benign |
Het |
| Rad51c |
T |
C |
11: 87,293,572 (GRCm39) |
T77A |
probably damaging |
Het |
| Ryr3 |
C |
A |
2: 112,624,815 (GRCm39) |
V2202F |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Snx27 |
T |
C |
3: 94,410,794 (GRCm39) |
H452R |
probably benign |
Het |
| Son |
C |
T |
16: 91,456,250 (GRCm39) |
H1666Y |
probably damaging |
Het |
| Spata25 |
C |
A |
2: 164,669,408 (GRCm39) |
W201L |
possibly damaging |
Het |
| Spint2 |
A |
G |
7: 28,963,097 (GRCm39) |
V67A |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,691,268 (GRCm39) |
Y322C |
probably benign |
Het |
| Synm |
T |
C |
7: 67,385,109 (GRCm39) |
Y409C |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tpm1 |
T |
C |
9: 66,930,649 (GRCm39) |
N283D |
probably benign |
Het |
| Trpv6 |
T |
C |
6: 41,602,432 (GRCm39) |
D318G |
probably damaging |
Het |
| Ube2j2 |
A |
G |
4: 156,033,543 (GRCm39) |
D39G |
probably damaging |
Het |
| Ubr1 |
C |
T |
2: 120,777,103 (GRCm39) |
|
probably null |
Het |
| Vwa5a |
T |
C |
9: 38,635,166 (GRCm39) |
F224L |
probably damaging |
Het |
| Zfp445 |
T |
A |
9: 122,681,002 (GRCm39) |
M980L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCCTCCAAGCAGTAACCAGG -3'
(R):5'- ACGACTGCTTTCCTCATACTGG -3'
Sequencing Primer
(F):5'- GTAACCAGGACTGCCACCCTC -3'
(R):5'- TTCCTCATACTGGAAAGAGGC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation