Incidental Mutation 'IGL01328:Jak3'
ID |
74390 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Jak3
|
Ensembl Gene |
ENSMUSG00000031805 |
Gene Name |
Janus kinase 3 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.664)
|
Stock # |
IGL01328
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
72129027-72143221 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 72132264 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 210
(R210C)
|
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 damaging
Transcript: ENSMUST00000051995
AA Change: R210C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000060073 Gene: ENSMUSG00000031805 AA Change: R210C
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: R210C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105639 Gene: ENSMUSG00000031805 AA Change: R210C
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: R210C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105640 Gene: ENSMUSG00000031805 AA Change: R210C
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
C |
T |
18: 59,181,954 (GRCm39) |
S1131F |
possibly damaging |
Het |
Alg14 |
G |
A |
3: 121,155,232 (GRCm39) |
V151I |
probably benign |
Het |
Ano5 |
G |
A |
7: 51,206,019 (GRCm39) |
|
probably null |
Het |
Arhgef28 |
A |
T |
13: 98,106,831 (GRCm39) |
C698S |
probably damaging |
Het |
Cacnb4 |
T |
C |
2: 52,354,637 (GRCm39) |
H247R |
probably damaging |
Het |
Clec12b |
A |
T |
6: 129,356,517 (GRCm39) |
W216R |
probably damaging |
Het |
Clnk |
C |
T |
5: 38,941,871 (GRCm39) |
S35N |
possibly damaging |
Het |
Cnot4 |
T |
A |
6: 35,055,049 (GRCm39) |
N80I |
probably damaging |
Het |
Cntn5 |
C |
T |
9: 9,781,773 (GRCm39) |
M635I |
probably damaging |
Het |
Dlg5 |
A |
G |
14: 24,252,419 (GRCm39) |
V107A |
probably damaging |
Het |
Dsc2 |
A |
T |
18: 20,181,343 (GRCm39) |
F155I |
probably damaging |
Het |
Dtwd1 |
A |
G |
2: 126,006,739 (GRCm39) |
I254V |
probably damaging |
Het |
Dzip3 |
A |
T |
16: 48,792,621 (GRCm39) |
D221E |
probably damaging |
Het |
F13b |
T |
A |
1: 139,435,820 (GRCm39) |
|
probably benign |
Het |
Fam131b |
G |
A |
6: 42,295,206 (GRCm39) |
L324F |
probably damaging |
Het |
Fam83a |
A |
T |
15: 57,849,901 (GRCm39) |
R148S |
probably damaging |
Het |
Farsb |
T |
C |
1: 78,447,729 (GRCm39) |
I236V |
probably benign |
Het |
Fat4 |
T |
A |
3: 39,034,807 (GRCm39) |
F2820I |
probably damaging |
Het |
Fat4 |
T |
A |
3: 38,944,140 (GRCm39) |
V1011E |
probably damaging |
Het |
Fgf7 |
A |
G |
2: 125,930,164 (GRCm39) |
E99G |
probably damaging |
Het |
Fign |
T |
C |
2: 63,809,216 (GRCm39) |
T685A |
probably damaging |
Het |
Fubp1 |
G |
A |
3: 151,925,855 (GRCm39) |
G289E |
probably damaging |
Het |
Gata6 |
G |
T |
18: 11,064,530 (GRCm39) |
M477I |
probably damaging |
Het |
Gm14496 |
A |
G |
2: 181,637,673 (GRCm39) |
Y249C |
probably damaging |
Het |
Hectd1 |
T |
C |
12: 51,807,904 (GRCm39) |
D1768G |
probably damaging |
Het |
Htatip2 |
T |
A |
7: 49,420,697 (GRCm39) |
|
probably null |
Het |
Irs2 |
C |
A |
8: 11,054,792 (GRCm39) |
Q1213H |
probably damaging |
Het |
Klk1b27 |
T |
C |
7: 43,705,303 (GRCm39) |
S157P |
probably damaging |
Het |
Klri1 |
T |
C |
6: 129,675,800 (GRCm39) |
S157G |
probably damaging |
Het |
Mtmr2 |
G |
T |
9: 13,713,223 (GRCm39) |
G395* |
probably null |
Het |
Mx1 |
T |
A |
16: 97,256,832 (GRCm39) |
I116F |
probably damaging |
Het |
Oip5 |
A |
C |
2: 119,442,314 (GRCm39) |
M200R |
possibly damaging |
Het |
Or10ag56 |
T |
A |
2: 87,139,925 (GRCm39) |
L284Q |
possibly damaging |
Het |
Or10g3 |
T |
C |
14: 52,609,967 (GRCm39) |
D181G |
probably damaging |
Het |
Or4b1d |
T |
C |
2: 89,969,418 (GRCm39) |
K22E |
probably benign |
Het |
Or4k39 |
A |
G |
2: 111,239,564 (GRCm39) |
Y268C |
probably damaging |
Het |
Pamr1 |
T |
A |
2: 102,472,482 (GRCm39) |
S594T |
probably benign |
Het |
Phf13 |
C |
T |
4: 152,080,285 (GRCm39) |
E13K |
probably benign |
Het |
Plekha6 |
A |
T |
1: 133,200,074 (GRCm39) |
|
probably null |
Het |
Rad17 |
A |
C |
13: 100,754,311 (GRCm39) |
N636K |
probably benign |
Het |
Rad21 |
T |
A |
15: 51,836,520 (GRCm39) |
D217V |
probably damaging |
Het |
Slc7a10 |
A |
G |
7: 34,885,917 (GRCm39) |
D4G |
possibly damaging |
Het |
Stc1 |
A |
G |
14: 69,275,726 (GRCm39) |
D173G |
probably benign |
Het |
Supt16 |
C |
T |
14: 52,414,489 (GRCm39) |
E438K |
probably benign |
Het |
Tex15 |
C |
T |
8: 34,061,424 (GRCm39) |
Q559* |
probably null |
Het |
Trim44 |
T |
A |
2: 102,230,365 (GRCm39) |
E222V |
probably benign |
Het |
Ubr5 |
T |
C |
15: 37,981,767 (GRCm39) |
E2343G |
possibly damaging |
Het |
Vmn2r86 |
T |
C |
10: 130,288,365 (GRCm39) |
T379A |
possibly damaging |
Het |
Vmn2r93 |
A |
G |
17: 18,545,819 (GRCm39) |
T564A |
probably benign |
Het |
Vsir |
C |
A |
10: 60,203,539 (GRCm39) |
|
probably benign |
Het |
Vwc2l |
T |
A |
1: 70,768,163 (GRCm39) |
|
probably null |
Het |
Xrn2 |
T |
C |
2: 146,871,850 (GRCm39) |
V396A |
possibly damaging |
Het |
Zbbx |
T |
A |
3: 75,000,382 (GRCm39) |
K208* |
probably null |
Het |
Zfhx4 |
C |
A |
3: 5,309,344 (GRCm39) |
L857M |
probably damaging |
Het |
Zfp180 |
A |
G |
7: 23,800,904 (GRCm39) |
D53G |
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 |
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 |
|
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 |
|
Posted On |
2013-10-07 |