Incidental Mutation 'R5538:Jak3'
| ID |
434935 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jak3
|
| Ensembl Gene |
ENSMUSG00000031805 |
| Gene Name |
Janus kinase 3 |
| Synonyms |
|
| MMRRC Submission |
043096-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.702)
|
| Stock # |
R5538 (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 72131417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 94
(D94G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051995]
[ENSMUST00000110012]
[ENSMUST00000110013]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051995
AA Change: D94G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
AA Change: D94G
| 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 benign
Transcript: ENSMUST00000110012
AA Change: D94G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
AA Change: D94G
| 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 benign
Transcript: ENSMUST00000110013
AA Change: D94G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
AA Change: D94G
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133263
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
94% (73/78) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
A |
13: 81,581,808 (GRCm39) |
R4745S |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,823,257 (GRCm39) |
E642G |
probably damaging |
Het |
| Arhgap11a |
G |
T |
2: 113,667,875 (GRCm39) |
D375E |
probably benign |
Het |
| Arl8b |
C |
A |
6: 108,760,297 (GRCm39) |
L28M |
probably damaging |
Het |
| Bbs2 |
G |
A |
8: 94,816,391 (GRCm39) |
T157M |
probably damaging |
Het |
| C2cd3 |
T |
A |
7: 100,104,700 (GRCm39) |
|
probably null |
Het |
| C6 |
T |
A |
15: 4,844,311 (GRCm39) |
I911N |
possibly damaging |
Het |
| Cc2d2a |
T |
C |
5: 43,852,518 (GRCm39) |
I365T |
possibly damaging |
Het |
| Cd46 |
T |
G |
1: 194,750,478 (GRCm39) |
|
probably null |
Het |
| Ceacam3 |
A |
T |
7: 16,892,346 (GRCm39) |
D363V |
probably damaging |
Het |
| Cep63 |
A |
T |
9: 102,465,992 (GRCm39) |
L678* |
probably null |
Het |
| Clasrp |
A |
C |
7: 19,318,707 (GRCm39) |
|
probably benign |
Het |
| Clk2 |
T |
A |
3: 89,082,962 (GRCm39) |
Y412N |
probably damaging |
Het |
| Col24a1 |
C |
T |
3: 144,998,882 (GRCm39) |
A5V |
probably damaging |
Het |
| Cox16 |
T |
C |
12: 81,531,703 (GRCm39) |
N13D |
possibly damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dhx32 |
A |
T |
7: 133,324,946 (GRCm39) |
M437K |
probably benign |
Het |
| Dnm2 |
T |
C |
9: 21,416,923 (GRCm39) |
F819L |
probably benign |
Het |
| Dpysl4 |
A |
G |
7: 138,671,906 (GRCm39) |
T85A |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,323,096 (GRCm39) |
K80* |
probably null |
Het |
| Dync2h1 |
T |
C |
9: 7,168,630 (GRCm39) |
|
probably benign |
Het |
| Ern1 |
A |
G |
11: 106,312,727 (GRCm39) |
V218A |
possibly damaging |
Het |
| Fbn2 |
G |
A |
18: 58,204,973 (GRCm39) |
R1157C |
probably benign |
Het |
| Fez1 |
T |
A |
9: 36,780,172 (GRCm39) |
I323N |
probably damaging |
Het |
| Fmo9 |
T |
A |
1: 166,501,198 (GRCm39) |
T199S |
probably benign |
Het |
| Fry |
T |
A |
5: 150,419,313 (GRCm39) |
L915Q |
probably damaging |
Het |
| Gatd1 |
A |
G |
7: 140,986,758 (GRCm39) |
|
probably benign |
Het |
| Gm10719 |
T |
C |
9: 3,018,962 (GRCm39) |
L69S |
probably benign |
Het |
| Gnpda2 |
A |
T |
5: 69,735,394 (GRCm39) |
H230Q |
probably damaging |
Het |
| Gramd1c |
T |
A |
16: 43,802,455 (GRCm39) |
N652I |
probably damaging |
Het |
| H2-T13 |
T |
A |
17: 36,392,178 (GRCm39) |
H178L |
probably benign |
Het |
| Hells |
T |
A |
19: 38,942,096 (GRCm39) |
F462Y |
probably benign |
Het |
| Htr7 |
A |
G |
19: 35,947,235 (GRCm39) |
F260L |
probably benign |
Het |
| Itsn1 |
C |
A |
16: 91,580,990 (GRCm39) |
A23D |
probably damaging |
Het |
| Kctd16 |
T |
A |
18: 40,390,319 (GRCm39) |
Y97* |
probably null |
Het |
| Kif20b |
A |
T |
19: 34,930,364 (GRCm39) |
K25* |
probably null |
Het |
| Klf2 |
T |
C |
8: 73,073,316 (GRCm39) |
L40P |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,731,639 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Lonrf1 |
T |
A |
8: 36,690,178 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
A |
T |
2: 40,587,486 (GRCm39) |
I154K |
unknown |
Het |
| Mybpc1 |
T |
A |
10: 88,381,891 (GRCm39) |
I600L |
possibly damaging |
Het |
| Npnt |
T |
C |
3: 132,610,724 (GRCm39) |
N285S |
probably damaging |
Het |
| Or4c12b |
T |
A |
2: 89,646,964 (GRCm39) |
F92Y |
probably damaging |
Het |
| Or51h5 |
A |
G |
7: 102,577,728 (GRCm39) |
T298A |
probably damaging |
Het |
| Or6c69 |
T |
A |
10: 129,747,871 (GRCm39) |
Y92F |
probably benign |
Het |
| Or6n1 |
T |
C |
1: 173,917,544 (GRCm39) |
*313R |
probably null |
Het |
| Pcnx1 |
T |
C |
12: 81,907,183 (GRCm39) |
V13A |
probably damaging |
Het |
| Phkb |
G |
A |
8: 86,648,756 (GRCm39) |
V191I |
possibly damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,581,508 (GRCm39) |
M594V |
probably benign |
Het |
| Potefam3e |
A |
C |
8: 19,799,430 (GRCm39) |
|
probably null |
Het |
| Prkdc |
A |
G |
16: 15,469,333 (GRCm39) |
E146G |
probably damaging |
Het |
| Ror1 |
T |
C |
4: 100,298,208 (GRCm39) |
M527T |
probably benign |
Het |
| Scnm1 |
A |
G |
3: 95,037,066 (GRCm39) |
|
probably benign |
Het |
| Skint11 |
A |
T |
4: 114,088,959 (GRCm39) |
N251I |
probably damaging |
Het |
| Slc19a3 |
T |
A |
1: 83,000,282 (GRCm39) |
N245I |
possibly damaging |
Het |
| Slc1a3 |
A |
T |
15: 8,675,188 (GRCm39) |
D272E |
probably damaging |
Het |
| Smok2b |
T |
A |
17: 13,454,440 (GRCm39) |
V200D |
possibly damaging |
Het |
| Sspo |
T |
C |
6: 48,429,112 (GRCm39) |
Y417H |
probably damaging |
Het |
| Stk11ip |
C |
A |
1: 75,504,979 (GRCm39) |
S388R |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,049,282 (GRCm39) |
|
probably null |
Het |
| Sytl2 |
A |
G |
7: 90,038,114 (GRCm39) |
I525V |
probably benign |
Het |
| Tie1 |
T |
C |
4: 118,343,390 (GRCm39) |
N158D |
probably benign |
Het |
| Tle2 |
T |
C |
10: 81,416,418 (GRCm39) |
L180P |
probably damaging |
Het |
| Txlnb |
T |
C |
10: 17,714,657 (GRCm39) |
L363P |
probably damaging |
Het |
| Upk3b |
C |
G |
5: 136,072,890 (GRCm39) |
A258G |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,908,612 (GRCm39) |
D1031E |
possibly damaging |
Het |
| Vmn2r116 |
C |
T |
17: 23,620,041 (GRCm39) |
L592F |
probably benign |
Het |
| Zfp607b |
A |
G |
7: 27,402,294 (GRCm39) |
H250R |
probably damaging |
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 |
|
R4897:Jak3
|
UTSW |
8 |
72,138,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5038:Jak3
|
UTSW |
8 |
72,138,702 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5469: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'- TCCCTAGATGACCATGCCATG -3'
(R):5'- AAGCGGTGACATGTCTCCAG -3'
Sequencing Primer
(F):5'- GATGACCATGCCATGTAATAGC -3'
(R):5'- TAAAAGCTGTGGGTTTCAGAATG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation