Incidental Mutation 'R4844:Jak3'
| ID |
372053 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jak3
|
| Ensembl Gene |
ENSMUSG00000031805 |
| Gene Name |
Janus kinase 3 |
| Synonyms |
|
| MMRRC Submission |
042457-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.664)
|
| Stock # |
R4844 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
72129027-72143221 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 72134299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 467
(N467I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051995]
[ENSMUST00000110012]
[ENSMUST00000110013]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051995
AA Change: N467I
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
AA Change: N467I
| 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 |
possibly damaging
Transcript: ENSMUST00000110012
AA Change: N467I
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
AA Change: N467I
| 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 |
possibly damaging
Transcript: ENSMUST00000110013
AA Change: N467I
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
AA Change: N467I
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
97% (68/70) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,634,824 (GRCm39) |
T147A |
probably benign |
Het |
| Acvrl1 |
T |
C |
15: 101,033,409 (GRCm39) |
S99P |
probably damaging |
Het |
| Adamts3 |
T |
A |
5: 89,825,675 (GRCm39) |
S1055C |
probably damaging |
Het |
| Aftph |
T |
C |
11: 20,658,667 (GRCm39) |
|
probably benign |
Het |
| Aldh1a1 |
A |
G |
19: 20,611,764 (GRCm39) |
K363E |
probably benign |
Het |
| Astn2 |
A |
G |
4: 65,562,967 (GRCm39) |
V886A |
possibly damaging |
Het |
| Atad5 |
G |
A |
11: 80,005,137 (GRCm39) |
|
probably null |
Het |
| C9orf72 |
A |
G |
4: 35,213,565 (GRCm39) |
V31A |
possibly damaging |
Het |
| Ccnf |
G |
T |
17: 24,449,331 (GRCm39) |
Y482* |
probably null |
Het |
| Cfap97 |
A |
G |
8: 46,622,712 (GRCm39) |
D34G |
possibly damaging |
Het |
| Chst11 |
G |
T |
10: 83,026,923 (GRCm39) |
E117* |
probably null |
Het |
| Cobl |
A |
T |
11: 12,204,740 (GRCm39) |
L572Q |
probably benign |
Het |
| Coch |
G |
A |
12: 51,649,477 (GRCm39) |
G263S |
probably damaging |
Het |
| Coq4 |
T |
C |
2: 29,686,026 (GRCm39) |
I205T |
possibly damaging |
Het |
| Cyp3a13 |
A |
T |
5: 137,915,813 (GRCm39) |
I62K |
probably benign |
Het |
| Cyp7a1 |
A |
G |
4: 6,273,655 (GRCm39) |
S84P |
probably damaging |
Het |
| Dennd10 |
GTCT |
GT |
19: 60,823,435 (GRCm39) |
|
probably null |
Het |
| G6pc3 |
G |
A |
11: 102,084,057 (GRCm39) |
|
probably null |
Het |
| Gm10576 |
T |
C |
4: 100,911,707 (GRCm39) |
|
noncoding transcript |
Het |
| Gm17511 |
G |
A |
7: 126,885,454 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat2 |
T |
C |
3: 108,002,831 (GRCm39) |
S80P |
probably damaging |
Het |
| Gpaa1 |
C |
T |
15: 76,216,508 (GRCm39) |
|
probably benign |
Het |
| Gpr107 |
T |
A |
2: 31,078,686 (GRCm39) |
|
probably null |
Het |
| Hormad1 |
T |
C |
3: 95,478,242 (GRCm39) |
Y103H |
probably damaging |
Het |
| Ighv14-1 |
T |
G |
12: 113,895,622 (GRCm39) |
Q101P |
probably damaging |
Het |
| Igsf9 |
A |
G |
1: 172,324,737 (GRCm39) |
D885G |
probably benign |
Het |
| Il15ra |
G |
A |
2: 11,723,082 (GRCm39) |
|
probably benign |
Het |
| Islr2 |
C |
T |
9: 58,115,517 (GRCm39) |
|
probably benign |
Het |
| Jarid2 |
T |
C |
13: 45,067,248 (GRCm39) |
V1023A |
probably damaging |
Het |
| Kcnn2 |
A |
T |
18: 45,816,187 (GRCm39) |
T333S |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,520,111 (GRCm39) |
T2000A |
probably benign |
Het |
| Lpxn |
A |
G |
19: 12,810,536 (GRCm39) |
T327A |
probably damaging |
Het |
| Mxra8 |
A |
G |
4: 155,927,151 (GRCm39) |
T362A |
probably benign |
Het |
| Myh6 |
A |
G |
14: 55,184,651 (GRCm39) |
I1560T |
possibly damaging |
Het |
| Ndufv1 |
A |
G |
19: 4,062,574 (GRCm39) |
S17P |
probably benign |
Het |
| Nwd1 |
A |
T |
8: 73,393,742 (GRCm39) |
H335L |
probably damaging |
Het |
| Or1a1 |
A |
G |
11: 74,086,902 (GRCm39) |
D191G |
probably damaging |
Het |
| Or2f1b |
T |
A |
6: 42,739,394 (GRCm39) |
M136K |
probably damaging |
Het |
| Otop2 |
G |
A |
11: 115,214,201 (GRCm39) |
|
probably null |
Het |
| Pwwp2b |
C |
A |
7: 138,835,502 (GRCm39) |
S314R |
probably benign |
Het |
| Rfx7 |
C |
T |
9: 72,500,524 (GRCm39) |
Q95* |
probably null |
Het |
| Serpine2 |
A |
T |
1: 79,777,241 (GRCm39) |
L192* |
probably null |
Het |
| Smpdl3b |
T |
C |
4: 132,465,369 (GRCm39) |
I322M |
probably damaging |
Het |
| Spata31d1b |
C |
T |
13: 59,866,169 (GRCm39) |
R1106C |
possibly damaging |
Het |
| Sprr2k |
T |
G |
3: 92,336,732 (GRCm39) |
|
probably null |
Het |
| St8sia1 |
T |
A |
6: 142,774,996 (GRCm39) |
R194S |
possibly damaging |
Het |
| Sv2a |
T |
A |
3: 96,095,695 (GRCm39) |
V337D |
probably damaging |
Het |
| Tars1 |
G |
A |
15: 11,385,281 (GRCm39) |
R637W |
possibly damaging |
Het |
| Tcp11l2 |
G |
T |
10: 84,449,555 (GRCm39) |
V507L |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,321,630 (GRCm39) |
Y2262H |
possibly damaging |
Het |
| Vars1 |
A |
G |
17: 35,230,588 (GRCm39) |
E529G |
probably damaging |
Het |
| Vash2 |
C |
T |
1: 190,710,691 (GRCm39) |
|
probably benign |
Het |
| Vmn1r194 |
T |
C |
13: 22,429,223 (GRCm39) |
V280A |
probably benign |
Het |
| Vti1a |
A |
G |
19: 55,380,297 (GRCm39) |
T142A |
probably damaging |
Het |
| Zfp111 |
C |
T |
7: 23,898,801 (GRCm39) |
C270Y |
probably damaging |
Het |
| Zfp518a |
T |
A |
19: 40,903,340 (GRCm39) |
Y1090N |
probably damaging |
Het |
| Zfp616 |
A |
T |
11: 73,975,225 (GRCm39) |
Y498F |
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 |
|
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 |
|
|
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'- AGGTCCTCTTTGCAGACTCC -3'
(R):5'- TTAGCCAGGACACCACAGAG -3'
Sequencing Primer
(F):5'- CTCTTGGCCCCGACTACAAG -3'
(R):5'- TGGCATTCACCCATGGGAAG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation