Incidental Mutation 'R4897:Jak3'
| ID |
375818 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jak3
|
| Ensembl Gene |
ENSMUSG00000031805 |
| Gene Name |
Janus kinase 3 |
| Synonyms |
|
| MMRRC Submission |
042501-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.702)
|
| Stock # |
R4897 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
72129027-72143221 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72138048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 833
(E833G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034261]
[ENSMUST00000051995]
[ENSMUST00000110012]
[ENSMUST00000110013]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034261
|
| SMART Domains |
Protein: ENSMUSP00000034261
Gene: ENSMUSG00000079019
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
IlGF
|
26 |
120 |
2.46e-10 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051995
AA Change: E833G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
AA Change: E833G
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
20 |
254 |
2.2e-42 |
SMART |
|
SH2
|
370 |
460 |
5.57e-8 |
SMART |
|
low complexity region
|
488 |
503 |
N/A |
INTRINSIC |
|
STYKc
|
517 |
773 |
3.58e-12 |
SMART |
|
TyrKc
|
818 |
1091 |
4.59e-105 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110012
AA Change: E833G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
AA Change: E833G
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
20 |
254 |
2.2e-42 |
SMART |
|
SH2
|
370 |
460 |
5.57e-8 |
SMART |
|
low complexity region
|
488 |
503 |
N/A |
INTRINSIC |
|
STYKc
|
517 |
773 |
3.58e-12 |
SMART |
|
TyrKc
|
818 |
1091 |
4.59e-105 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110013
AA Change: E833G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
AA Change: E833G
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
20 |
254 |
2.2e-42 |
SMART |
|
SH2
|
370 |
460 |
5.57e-8 |
SMART |
|
low complexity region
|
488 |
503 |
N/A |
INTRINSIC |
|
STYKc
|
517 |
773 |
3.58e-12 |
SMART |
|
TyrKc
|
818 |
1091 |
4.59e-105 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130624
|
| Meta Mutation Damage Score |
0.8361 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
100% (79/79) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired B cell development, small thymi and T cell proliferate. Point mutation homozygotes develop autoimmune inflammatory bowel disease, decreased susceptibility to malaria infection and/or increased susceptibility to bacterial infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
C |
A |
2: 35,266,309 (GRCm39) |
M120I |
probably damaging |
Het |
| 4933427D14Rik |
A |
T |
11: 72,082,342 (GRCm39) |
L328Q |
probably damaging |
Het |
| Adgrv1 |
A |
C |
13: 81,709,704 (GRCm39) |
|
probably null |
Het |
| Ankrd46 |
A |
T |
15: 36,484,279 (GRCm39) |
|
probably benign |
Het |
| Arhgef18 |
A |
T |
8: 3,494,979 (GRCm39) |
M413L |
probably benign |
Het |
| Atp6v1e1 |
G |
A |
6: 120,781,044 (GRCm39) |
T87M |
probably null |
Het |
| Bap1 |
T |
C |
14: 30,980,402 (GRCm39) |
|
probably benign |
Het |
| Brf1 |
A |
G |
12: 112,929,507 (GRCm39) |
L385P |
probably benign |
Het |
| C1qtnf1 |
A |
T |
11: 118,338,938 (GRCm39) |
N203Y |
probably damaging |
Het |
| Catsperb |
A |
T |
12: 101,569,025 (GRCm39) |
N899I |
probably damaging |
Het |
| Ccnjl |
A |
C |
11: 43,470,718 (GRCm39) |
D162A |
probably damaging |
Het |
| Cd248 |
A |
C |
19: 5,119,195 (GRCm39) |
I348L |
probably benign |
Het |
| Cdc20 |
T |
C |
4: 118,293,029 (GRCm39) |
T265A |
probably benign |
Het |
| Cdca5 |
T |
A |
19: 6,140,427 (GRCm39) |
L196* |
probably null |
Het |
| Cdk4 |
T |
A |
10: 126,900,444 (GRCm39) |
|
probably benign |
Het |
| Cldn10 |
G |
A |
14: 119,025,725 (GRCm39) |
G53S |
possibly damaging |
Het |
| Clec4b2 |
G |
T |
6: 123,177,999 (GRCm39) |
E105* |
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,909,600 (GRCm39) |
D1404E |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 30,989,496 (GRCm39) |
Y3308C |
probably damaging |
Het |
| Dnah17 |
A |
C |
11: 117,969,419 (GRCm39) |
Y2260D |
probably damaging |
Het |
| Dock8 |
T |
G |
19: 25,159,001 (GRCm39) |
S1720A |
probably benign |
Het |
| Erc1 |
A |
G |
6: 119,754,947 (GRCm39) |
|
probably null |
Het |
| Ergic1 |
A |
G |
17: 26,848,597 (GRCm39) |
I66V |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,843,158 (GRCm39) |
T1029A |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 39,034,781 (GRCm39) |
Y2811F |
probably damaging |
Het |
| Flt3 |
A |
G |
5: 147,306,110 (GRCm39) |
M310T |
probably damaging |
Het |
| Ganab |
T |
A |
19: 8,892,355 (GRCm39) |
C844S |
probably benign |
Het |
| Gas2l2 |
C |
A |
11: 83,320,041 (GRCm39) |
V72F |
probably damaging |
Het |
| Gm14401 |
T |
A |
2: 176,778,573 (GRCm39) |
C220S |
probably damaging |
Het |
| Hmmr |
A |
T |
11: 40,619,261 (GRCm39) |
V73E |
probably benign |
Het |
| Idi2l |
T |
G |
13: 8,990,637 (GRCm39) |
|
probably benign |
Het |
| Ifih1 |
G |
T |
2: 62,465,358 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
TTTGCGCATT |
TTT |
10: 26,919,639 (GRCm39) |
|
probably null |
Het |
| Ldb1 |
G |
A |
19: 46,023,132 (GRCm39) |
A217V |
probably benign |
Het |
| Lrrc8c |
A |
G |
5: 105,755,955 (GRCm39) |
T577A |
probably benign |
Het |
| Mfn1 |
T |
A |
3: 32,600,711 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
G |
A |
7: 135,298,474 (GRCm39) |
P2187S |
probably damaging |
Het |
| Mrc1 |
T |
A |
2: 14,323,952 (GRCm39) |
D1096E |
probably benign |
Het |
| Msi1 |
A |
G |
5: 115,573,654 (GRCm39) |
|
probably benign |
Het |
| Msto1 |
T |
A |
3: 88,819,559 (GRCm39) |
I152F |
probably benign |
Het |
| Myo9a |
A |
G |
9: 59,803,800 (GRCm39) |
R2060G |
probably benign |
Het |
| Nnt |
A |
T |
13: 119,541,107 (GRCm39) |
C44* |
probably null |
Het |
| Nup210l |
A |
G |
3: 90,100,378 (GRCm39) |
D1468G |
probably damaging |
Het |
| Or1j16 |
T |
C |
2: 36,530,906 (GRCm39) |
L285P |
probably damaging |
Het |
| Or4c10b |
A |
G |
2: 89,711,476 (GRCm39) |
E102G |
probably benign |
Het |
| Or5d46 |
C |
A |
2: 88,174,686 (GRCm39) |
C129F |
possibly damaging |
Het |
| Or7a40 |
T |
C |
16: 16,491,482 (GRCm39) |
D121G |
probably damaging |
Het |
| P2rx3 |
G |
A |
2: 84,855,270 (GRCm39) |
T62I |
probably damaging |
Het |
| Pabpc4l |
G |
T |
3: 46,401,578 (GRCm39) |
T22K |
probably damaging |
Het |
| Pcdha7 |
A |
G |
18: 37,108,646 (GRCm39) |
D557G |
probably damaging |
Het |
| Pcdhb20 |
A |
G |
18: 37,639,298 (GRCm39) |
K608R |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,964,939 (GRCm39) |
S369G |
probably damaging |
Het |
| Plod1 |
T |
C |
4: 148,004,736 (GRCm39) |
I455V |
probably benign |
Het |
| Prune2 |
A |
T |
19: 17,099,219 (GRCm39) |
E1574D |
probably benign |
Het |
| Ptar1 |
T |
A |
19: 23,680,472 (GRCm39) |
L96H |
probably damaging |
Het |
| Rabgap1 |
T |
C |
2: 37,450,583 (GRCm39) |
S904P |
probably benign |
Het |
| Rps6ka4 |
C |
T |
19: 6,815,467 (GRCm39) |
V176I |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Runx1t1 |
T |
A |
4: 13,771,459 (GRCm39) |
M1K |
probably null |
Het |
| Serinc4 |
T |
A |
2: 121,282,905 (GRCm39) |
Y419F |
probably damaging |
Het |
| Serpina12 |
A |
T |
12: 104,004,056 (GRCm39) |
M192K |
possibly damaging |
Het |
| Spata21 |
T |
A |
4: 140,832,261 (GRCm39) |
M474K |
probably damaging |
Het |
| Stpg1 |
T |
C |
4: 135,246,676 (GRCm39) |
S135P |
possibly damaging |
Het |
| Tdrkh |
A |
G |
3: 94,336,671 (GRCm39) |
D481G |
probably damaging |
Het |
| Ube2e1 |
A |
C |
14: 18,285,268 (GRCm38) |
S68R |
probably damaging |
Het |
| Vcpip1 |
A |
C |
1: 9,817,572 (GRCm39) |
N270K |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,650,675 (GRCm39) |
F154L |
probably benign |
Het |
| Vwa3b |
A |
G |
1: 37,153,684 (GRCm39) |
|
probably benign |
Het |
| Xdh |
C |
A |
17: 74,207,703 (GRCm39) |
V885L |
probably benign |
Het |
| Zfp141 |
A |
T |
7: 42,125,629 (GRCm39) |
V281D |
probably benign |
Het |
| Zfp317 |
T |
A |
9: 19,558,143 (GRCm39) |
I119N |
probably benign |
Het |
| Zfp345 |
G |
A |
2: 150,314,608 (GRCm39) |
R310C |
probably benign |
Het |
| Zfp760 |
G |
A |
17: 21,942,229 (GRCm39) |
C468Y |
probably benign |
Het |
|
| Other mutations in Jak3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Jak3
|
APN |
8 |
72,134,341 (GRCm39) |
splice site |
probably benign |
|
|
IGL00720:Jak3
|
APN |
8 |
72,136,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00966:Jak3
|
APN |
8 |
72,131,656 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01147:Jak3
|
APN |
8 |
72,136,047 (GRCm39) |
missense |
probably benign |
|
|
IGL01308:Jak3
|
APN |
8 |
72,137,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01328:Jak3
|
APN |
8 |
72,132,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01386:Jak3
|
APN |
8 |
72,136,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01515:Jak3
|
APN |
8 |
72,133,206 (GRCm39) |
splice site |
probably null |
|
|
IGL01870:Jak3
|
APN |
8 |
72,133,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02132:Jak3
|
APN |
8 |
72,131,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02413:Jak3
|
APN |
8 |
72,138,763 (GRCm39) |
splice site |
probably null |
|
|
IGL02752:Jak3
|
APN |
8 |
72,135,595 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL03089:Jak3
|
APN |
8 |
72,138,727 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03177:Jak3
|
APN |
8 |
72,135,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
barbed
|
UTSW |
8 |
72,131,425 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
beanstalk
|
UTSW |
8 |
72,139,932 (GRCm39) |
missense |
probably benign |
0.01 |
|
Bonis
|
UTSW |
8 |
72,131,898 (GRCm39) |
missense |
probably benign |
0.05 |
|
citron
|
UTSW |
8 |
72,139,620 (GRCm39) |
splice site |
probably benign |
|
|
corrupt
|
UTSW |
8 |
72,136,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
daniels
|
UTSW |
8 |
72,134,299 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Deposuit
|
UTSW |
8 |
72,138,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
distortion
|
UTSW |
8 |
72,136,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Downcast
|
UTSW |
8 |
72,138,155 (GRCm39) |
missense |
probably benign |
0.07 |
|
fake_news
|
UTSW |
8 |
72,138,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Implevit
|
UTSW |
8 |
72,131,417 (GRCm39) |
missense |
probably benign |
|
|
mount_tai
|
UTSW |
8 |
72,136,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
potentes
|
UTSW |
8 |
72,138,702 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Riot
|
UTSW |
8 |
72,134,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
thistle
|
UTSW |
8 |
72,138,027 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
thistle2
|
UTSW |
8 |
72,138,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4403001:Jak3
|
UTSW |
8 |
72,136,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4515001:Jak3
|
UTSW |
8 |
72,132,286 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0013:Jak3
|
UTSW |
8 |
72,136,971 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0496:Jak3
|
UTSW |
8 |
72,135,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0522:Jak3
|
UTSW |
8 |
72,134,918 (GRCm39) |
splice site |
probably benign |
|
|
R0531:Jak3
|
UTSW |
8 |
72,139,620 (GRCm39) |
splice site |
probably benign |
|
|
R0538:Jak3
|
UTSW |
8 |
72,138,126 (GRCm39) |
missense |
probably benign |
|
|
R0612:Jak3
|
UTSW |
8 |
72,136,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0744:Jak3
|
UTSW |
8 |
72,136,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0833:Jak3
|
UTSW |
8 |
72,136,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0836:Jak3
|
UTSW |
8 |
72,136,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1183:Jak3
|
UTSW |
8 |
72,137,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1420:Jak3
|
UTSW |
8 |
72,134,182 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1793:Jak3
|
UTSW |
8 |
72,138,590 (GRCm39) |
splice site |
probably benign |
|
|
R1967:Jak3
|
UTSW |
8 |
72,134,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1983:Jak3
|
UTSW |
8 |
72,140,780 (GRCm39) |
missense |
probably benign |
|
|
R1983:Jak3
|
UTSW |
8 |
72,131,019 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2058:Jak3
|
UTSW |
8 |
72,138,027 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2060:Jak3
|
UTSW |
8 |
72,136,059 (GRCm39) |
nonsense |
probably null |
|
|
R2060:Jak3
|
UTSW |
8 |
72,133,358 (GRCm39) |
nonsense |
probably null |
|
|
R3705:Jak3
|
UTSW |
8 |
72,134,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3734:Jak3
|
UTSW |
8 |
72,129,225 (GRCm39) |
unclassified |
probably benign |
|
|
R4231:Jak3
|
UTSW |
8 |
72,138,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4596:Jak3
|
UTSW |
8 |
72,137,275 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4844:Jak3
|
UTSW |
8 |
72,134,299 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5038:Jak3
|
UTSW |
8 |
72,138,702 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5469:Jak3
|
UTSW |
8 |
72,131,417 (GRCm39) |
missense |
probably benign |
|
|
R5538:Jak3
|
UTSW |
8 |
72,131,417 (GRCm39) |
missense |
probably benign |
|
|
R5718:Jak3
|
UTSW |
8 |
72,136,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5799:Jak3
|
UTSW |
8 |
72,131,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5909:Jak3
|
UTSW |
8 |
72,136,875 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5959:Jak3
|
UTSW |
8 |
72,134,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6260:Jak3
|
UTSW |
8 |
72,131,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6798:Jak3
|
UTSW |
8 |
72,133,615 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7013:Jak3
|
UTSW |
8 |
72,131,425 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7070:Jak3
|
UTSW |
8 |
72,137,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7122:Jak3
|
UTSW |
8 |
72,138,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7166:Jak3
|
UTSW |
8 |
72,134,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7225:Jak3
|
UTSW |
8 |
72,138,155 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7440:Jak3
|
UTSW |
8 |
72,133,362 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7489:Jak3
|
UTSW |
8 |
72,136,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7773:Jak3
|
UTSW |
8 |
72,131,686 (GRCm39) |
missense |
probably benign |
|
|
R7779:Jak3
|
UTSW |
8 |
72,139,932 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8511:Jak3
|
UTSW |
8 |
72,138,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8808:Jak3
|
UTSW |
8 |
72,138,164 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8859:Jak3
|
UTSW |
8 |
72,131,160 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9079:Jak3
|
UTSW |
8 |
72,131,898 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9320:Jak3
|
UTSW |
8 |
72,134,265 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9389:Jak3
|
UTSW |
8 |
72,136,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9664:Jak3
|
UTSW |
8 |
72,131,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Jak3
|
UTSW |
8 |
72,133,327 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCCTCGAGATGAGCTGTG -3'
(R):5'- CATGGGAGTTAACGACCTTGTTC -3'
Sequencing Primer
(F):5'- CGAGATGAGCTGTGCGGTG -3'
(R):5'- GGAGTTAACGACCTTGTTCAACAG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation