Incidental Mutation 'R7489:Jak3'
| ID |
580413 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jak3
|
| Ensembl Gene |
ENSMUSG00000031805 |
| Gene Name |
Janus kinase 3 |
| Synonyms |
|
| MMRRC Submission |
045563-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.702)
|
| Stock # |
R7489 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
72129027-72143221 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 72136936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 704
(K704T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060073
(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: K704T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
AA Change: K704T
| 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: K704T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
AA Change: K704T
| 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: K704T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
AA Change: K704T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
A |
T |
16: 88,424,122 (GRCm39) |
V123D |
probably damaging |
Het |
| 4930503E14Rik |
A |
T |
14: 44,407,756 (GRCm39) |
N92K |
probably damaging |
Het |
| 4930519G04Rik |
T |
C |
5: 115,017,686 (GRCm39) |
S166P |
unknown |
Het |
| Abtb3 |
T |
A |
10: 85,463,079 (GRCm39) |
Y615N |
probably damaging |
Het |
| Adgrb3 |
G |
A |
1: 25,586,586 (GRCm39) |
T369I |
probably damaging |
Het |
| Agbl4 |
T |
C |
4: 111,383,855 (GRCm39) |
S237P |
probably damaging |
Het |
| Ahi1 |
T |
C |
10: 20,839,649 (GRCm39) |
C187R |
probably benign |
Het |
| Akap9 |
C |
T |
5: 4,054,933 (GRCm39) |
T1626M |
probably damaging |
Het |
| Alas1 |
A |
T |
9: 106,118,833 (GRCm39) |
|
probably null |
Het |
| Apbb1 |
G |
T |
7: 105,216,687 (GRCm39) |
T301N |
probably benign |
Het |
| Arhgap42 |
A |
G |
9: 9,006,359 (GRCm39) |
V679A |
probably benign |
Het |
| Atp2a2 |
T |
C |
5: 122,605,830 (GRCm39) |
D375G |
probably benign |
Het |
| Best1 |
A |
G |
19: 9,974,410 (GRCm39) |
S45P |
possibly damaging |
Het |
| Bpifb4 |
A |
C |
2: 153,785,924 (GRCm39) |
T21P |
probably damaging |
Het |
| Cdx2 |
A |
T |
5: 147,243,482 (GRCm39) |
M104K |
probably benign |
Het |
| Ces1d |
A |
T |
8: 93,904,759 (GRCm39) |
L327Q |
probably damaging |
Het |
| Ces2e |
A |
G |
8: 105,656,412 (GRCm39) |
H214R |
probably benign |
Het |
| Chd5 |
G |
A |
4: 152,457,925 (GRCm39) |
G1014D |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,228,346 (GRCm39) |
K2247N |
possibly damaging |
Het |
| Dip2c |
T |
C |
13: 9,583,348 (GRCm39) |
V110A |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,541,265 (GRCm39) |
S724P |
probably benign |
Het |
| Galnt1 |
T |
A |
18: 24,415,214 (GRCm39) |
V485D |
probably damaging |
Het |
| Garin3 |
G |
C |
11: 46,298,268 (GRCm39) |
G524A |
|
Het |
| Gli2 |
A |
G |
1: 118,765,905 (GRCm39) |
S749P |
probably benign |
Het |
| H2-M5 |
A |
C |
17: 37,300,363 (GRCm39) |
L12V |
unknown |
Het |
| Iqcf6 |
C |
A |
9: 106,504,656 (GRCm39) |
Q107K |
probably benign |
Het |
| Itfg1 |
C |
T |
8: 86,493,630 (GRCm39) |
C283Y |
probably damaging |
Het |
| Kl |
A |
T |
5: 150,876,461 (GRCm39) |
T94S |
probably damaging |
Het |
| Krt73 |
A |
C |
15: 101,702,294 (GRCm39) |
V523G |
probably benign |
Het |
| Lap3 |
T |
C |
5: 45,657,848 (GRCm39) |
F215L |
probably damaging |
Het |
| Lce1c |
G |
A |
3: 92,587,954 (GRCm39) |
C127Y |
unknown |
Het |
| Map6 |
C |
T |
7: 98,917,268 (GRCm39) |
R14C |
probably damaging |
Het |
| Mcm10 |
T |
A |
2: 5,006,112 (GRCm39) |
K410M |
probably damaging |
Het |
| Med23 |
T |
A |
10: 24,780,254 (GRCm39) |
N967K |
probably damaging |
Het |
| Mmp8 |
A |
T |
9: 7,561,388 (GRCm39) |
T131S |
probably benign |
Het |
| Ms4a14 |
T |
C |
19: 11,279,395 (GRCm39) |
I1054M |
probably benign |
Het |
| Mup14 |
A |
G |
4: 61,259,887 (GRCm39) |
M1T |
probably null |
Het |
| Myzap |
T |
A |
9: 71,468,320 (GRCm39) |
T110S |
probably benign |
Het |
| Nmrk1 |
A |
T |
19: 18,619,606 (GRCm39) |
K153M |
probably damaging |
Het |
| Nmrk1 |
G |
T |
19: 18,619,607 (GRCm39) |
K153N |
possibly damaging |
Het |
| Or4x12-ps1 |
T |
A |
2: 89,916,704 (GRCm39) |
M34L |
probably benign |
Het |
| Or6c70 |
A |
T |
10: 129,710,551 (GRCm39) |
I25N |
probably damaging |
Het |
| Pcdh12 |
T |
C |
18: 38,414,842 (GRCm39) |
H761R |
possibly damaging |
Het |
| Pde4d |
C |
A |
13: 109,253,301 (GRCm39) |
L43I |
unknown |
Het |
| Prrc2a |
A |
T |
17: 35,381,330 (GRCm39) |
S46R |
unknown |
Het |
| Rab19 |
A |
G |
6: 39,365,039 (GRCm39) |
T100A |
probably benign |
Het |
| Rad51b |
C |
T |
12: 79,347,359 (GRCm39) |
R8* |
probably null |
Het |
| Sclt1 |
A |
T |
3: 41,584,032 (GRCm39) |
L642Q |
probably damaging |
Het |
| Scyl3 |
T |
C |
1: 163,776,745 (GRCm39) |
I392T |
possibly damaging |
Het |
| Sipa1l3 |
A |
G |
7: 29,066,127 (GRCm39) |
W1076R |
probably damaging |
Het |
| Slc12a9 |
C |
A |
5: 137,321,082 (GRCm39) |
A478S |
probably damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,741,113 (GRCm39) |
C511F |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,450,647 (GRCm39) |
L2612P |
probably damaging |
Het |
| Synrg |
C |
T |
11: 83,881,651 (GRCm39) |
T329I |
probably benign |
Het |
| Tdrd9 |
A |
G |
12: 112,034,071 (GRCm39) |
T1338A |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,486,521 (GRCm39) |
D996V |
possibly damaging |
Het |
| Ticam2 |
T |
A |
18: 46,693,584 (GRCm39) |
I168L |
probably damaging |
Het |
| Tom1l1 |
T |
C |
11: 90,547,185 (GRCm39) |
I374M |
probably benign |
Het |
| Trip10 |
A |
T |
17: 57,557,966 (GRCm39) |
K51I |
probably damaging |
Het |
| Trpc6 |
T |
A |
9: 8,656,545 (GRCm39) |
D735E |
probably benign |
Het |
| Trpm8 |
T |
A |
1: 88,307,481 (GRCm39) |
N1050K |
possibly damaging |
Het |
| Tuba8 |
A |
T |
6: 121,202,980 (GRCm39) |
D431V |
probably damaging |
Het |
| Ucn2 |
C |
T |
9: 108,815,322 (GRCm39) |
T28I |
possibly damaging |
Het |
| Vmn1r21 |
C |
T |
6: 57,820,877 (GRCm39) |
G189D |
probably damaging |
Het |
| Vmn2r8 |
T |
C |
5: 108,945,522 (GRCm39) |
N695S |
possibly damaging |
Het |
| Xirp2 |
A |
C |
2: 67,355,904 (GRCm39) |
N3555T |
possibly damaging |
Het |
| Zfp119a |
A |
T |
17: 56,173,158 (GRCm39) |
H228Q |
probably damaging |
Het |
| Zfr |
T |
A |
15: 12,153,068 (GRCm39) |
H566Q |
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 |
|
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 |
|
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'- AGTGAGTACAGGCTAGCCTCAC -3'
(R):5'- TCTAAGGGACGAGGGTTCAC -3'
Sequencing Primer
(F):5'- ACTATACCCCGTGTCTGCAG -3'
(R):5'- GACGAGGGTTCACTTCGG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation