Incidental Mutation 'R5038:Jak3'
| ID |
393118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jak3
|
| Ensembl Gene |
ENSMUSG00000031805 |
| Gene Name |
Janus kinase 3 |
| Synonyms |
|
| MMRRC Submission |
042628-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.702)
|
| Stock # |
R5038 (G1)
|
| Quality Score |
134 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
72129027-72143221 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72138702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 967
(A967T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034260]
[ENSMUST00000034261]
[ENSMUST00000051995]
[ENSMUST00000110012]
[ENSMUST00000110013]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034260
|
| SMART Domains |
Protein: ENSMUSP00000034260
Gene: ENSMUSG00000031803
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Galactosyl_T
|
121 |
314 |
5.9e-44 |
PFAM |
|
| 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: A967T
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
AA Change: A967T
| 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: A967T
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
AA Change: A967T
| 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: A967T
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
AA Change: A967T
| 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 |
0.8205 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
94% (64/68) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930512M02Rik |
A |
T |
11: 11,539,375 (GRCm39) |
|
probably null |
Het |
| Abtb2 |
G |
T |
2: 103,397,408 (GRCm39) |
G113C |
probably damaging |
Het |
| Acsm5 |
A |
G |
7: 119,134,034 (GRCm39) |
T272A |
probably damaging |
Het |
| Adprs |
C |
T |
4: 126,211,102 (GRCm39) |
E272K |
possibly damaging |
Het |
| Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
| Atp7b |
A |
C |
8: 22,518,472 (GRCm39) |
I122S |
possibly damaging |
Het |
| B230219D22Rik |
T |
C |
13: 55,847,288 (GRCm39) |
Y134H |
probably damaging |
Het |
| Bnc1 |
A |
G |
7: 81,618,462 (GRCm39) |
S868P |
probably damaging |
Het |
| Camta1 |
T |
C |
4: 151,229,926 (GRCm39) |
E302G |
probably damaging |
Het |
| Car1 |
A |
G |
3: 14,835,933 (GRCm39) |
Y129H |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,984,197 (GRCm39) |
T352A |
probably benign |
Het |
| Ckmt2 |
T |
C |
13: 92,009,282 (GRCm39) |
E215G |
probably benign |
Het |
| Cyb5r4 |
T |
G |
9: 86,941,130 (GRCm39) |
|
probably null |
Het |
| Dhrs13 |
A |
G |
11: 77,923,256 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
G |
A |
18: 20,397,901 (GRCm39) |
A34T |
probably benign |
Het |
| Epb41l1 |
T |
C |
2: 156,363,330 (GRCm39) |
V613A |
probably benign |
Het |
| Fam114a1 |
A |
G |
5: 65,166,388 (GRCm39) |
M240V |
probably damaging |
Het |
| Gm15455 |
T |
C |
1: 33,877,257 (GRCm39) |
|
noncoding transcript |
Het |
| Herc1 |
T |
G |
9: 66,383,742 (GRCm39) |
|
probably benign |
Het |
| Ifna11 |
T |
C |
4: 88,738,314 (GRCm39) |
V40A |
probably benign |
Het |
| Ifna15 |
T |
C |
4: 88,476,266 (GRCm39) |
N73D |
probably benign |
Het |
| Imp4 |
A |
T |
1: 34,482,016 (GRCm39) |
L45F |
probably damaging |
Het |
| Krtap19-2 |
A |
T |
16: 88,670,916 (GRCm39) |
Y76* |
probably null |
Het |
| Map4k5 |
A |
T |
12: 69,871,388 (GRCm39) |
N492K |
probably damaging |
Het |
| Mycbp2 |
C |
T |
14: 103,534,375 (GRCm39) |
R372H |
probably damaging |
Het |
| Nos2 |
G |
A |
11: 78,813,140 (GRCm39) |
S16N |
probably benign |
Het |
| Nr2c2 |
A |
G |
6: 92,116,803 (GRCm39) |
T2A |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,199,232 (GRCm39) |
Y267H |
probably damaging |
Het |
| Nxph2 |
G |
A |
2: 23,211,556 (GRCm39) |
|
probably null |
Het |
| Or5b107 |
T |
A |
19: 13,142,955 (GRCm39) |
D192E |
probably benign |
Het |
| Or5b96 |
T |
A |
19: 12,867,770 (GRCm39) |
H57L |
probably damaging |
Het |
| Or9i1b |
T |
A |
19: 13,896,822 (GRCm39) |
V146E |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,541,783 (GRCm39) |
E761K |
possibly damaging |
Het |
| Pik3r1 |
C |
T |
13: 101,825,952 (GRCm39) |
R37Q |
probably damaging |
Het |
| Pkn3 |
T |
C |
2: 29,975,293 (GRCm39) |
|
probably null |
Het |
| Pold3 |
A |
G |
7: 99,770,590 (GRCm39) |
V14A |
probably damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,519,083 (GRCm39) |
S38P |
probably damaging |
Het |
| Raf1 |
G |
A |
6: 115,597,196 (GRCm39) |
Q35* |
probably null |
Het |
| Rps3a1 |
C |
A |
3: 86,045,338 (GRCm39) |
E251D |
probably benign |
Het |
| Scd1 |
C |
T |
19: 44,390,148 (GRCm39) |
V207M |
probably damaging |
Het |
| Shq1 |
A |
G |
6: 100,607,954 (GRCm39) |
V319A |
probably benign |
Het |
| Slc4a8 |
T |
C |
15: 100,693,702 (GRCm39) |
Y416H |
probably damaging |
Het |
| Slco1a5 |
T |
C |
6: 142,208,363 (GRCm39) |
T143A |
probably benign |
Het |
| Slco1a5 |
C |
T |
6: 142,212,090 (GRCm39) |
G90D |
probably damaging |
Het |
| Snx9 |
T |
C |
17: 5,937,348 (GRCm39) |
V30A |
probably benign |
Het |
| Spdya |
T |
C |
17: 71,895,561 (GRCm39) |
|
probably benign |
Het |
| Stat1 |
A |
T |
1: 52,162,368 (GRCm39) |
N75I |
probably damaging |
Het |
| Sv2b |
A |
T |
7: 74,807,173 (GRCm39) |
M159K |
probably damaging |
Het |
| Tdh |
A |
T |
14: 63,733,575 (GRCm39) |
Y89* |
probably null |
Het |
| Tmc7 |
A |
G |
7: 118,142,588 (GRCm39) |
F600S |
probably damaging |
Het |
| Trpa1 |
T |
A |
1: 14,981,090 (GRCm39) |
H104L |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,678,984 (GRCm39) |
|
probably benign |
Het |
| Vmn1r113 |
A |
G |
7: 20,521,419 (GRCm39) |
I70M |
possibly damaging |
Het |
| Vmn1r171 |
A |
G |
7: 23,332,188 (GRCm39) |
M138V |
probably benign |
Het |
| Zfc3h1 |
G |
A |
10: 115,240,116 (GRCm39) |
V550I |
probably benign |
Het |
| Zfp335 |
G |
T |
2: 164,752,564 (GRCm39) |
S60* |
probably null |
Het |
| Zfp7 |
T |
C |
15: 76,776,010 (GRCm39) |
M684T |
probably benign |
Het |
| Zfp984 |
T |
A |
4: 147,839,903 (GRCm39) |
H316L |
probably damaging |
Het |
| Zmym2 |
T |
A |
14: 57,193,637 (GRCm39) |
Y1151N |
possibly 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 |
|
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'- CTGTTCGCTTGGCAGATCTG -3'
(R):5'- ATCGTGGCTATAGGGCTGAC -3'
Sequencing Primer
(F):5'- GCAAGGTGCGAGCATCG -3'
(R):5'- CAAGGCCTTTGCGAGGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation