Incidental Mutation 'R1983:Jak3'
ID |
220151 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Jak3
|
Ensembl Gene |
ENSMUSG00000031805 |
Gene Name |
Janus kinase 3 |
Synonyms |
|
MMRRC Submission |
039995-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.702)
|
Stock # |
R1983 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
72129027-72143221 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 72131019 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 13
(Q13L)
|
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: Q13L
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000060073 Gene: ENSMUSG00000031805 AA Change: Q13L
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: Q13L
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000105639 Gene: ENSMUSG00000031805 AA Change: Q13L
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: Q13L
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000105640 Gene: ENSMUSG00000031805 AA Change: Q13L
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600012H06Rik |
T |
A |
17: 15,164,272 (GRCm39) |
V133E |
probably damaging |
Het |
Aco1 |
G |
A |
4: 40,175,845 (GRCm39) |
G160S |
probably benign |
Het |
Actn2 |
C |
T |
13: 12,293,696 (GRCm39) |
R608H |
probably benign |
Het |
Adora2a |
A |
C |
10: 75,169,480 (GRCm39) |
S315R |
probably benign |
Het |
Arhgap42 |
T |
C |
9: 9,017,018 (GRCm39) |
Y382C |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atg4c |
A |
G |
4: 99,116,812 (GRCm39) |
Y318C |
probably damaging |
Het |
Baz2a |
C |
T |
10: 127,959,828 (GRCm39) |
T1408I |
probably benign |
Het |
Bbx |
T |
A |
16: 50,029,480 (GRCm39) |
Q663L |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 36,942,014 (GRCm39) |
D273G |
probably null |
Het |
Btbd3 |
T |
G |
2: 138,125,608 (GRCm39) |
L264R |
probably damaging |
Het |
Cfi |
T |
C |
3: 129,662,194 (GRCm39) |
I391T |
probably damaging |
Het |
Chadl |
T |
C |
15: 81,578,097 (GRCm39) |
I45V |
probably benign |
Het |
Chd5 |
C |
A |
4: 152,469,123 (GRCm39) |
A1853D |
possibly damaging |
Het |
Cmas |
G |
T |
6: 142,716,312 (GRCm39) |
D251Y |
probably damaging |
Het |
Cyp2d10 |
A |
G |
15: 82,290,200 (GRCm39) |
M90T |
probably benign |
Het |
D630003M21Rik |
A |
G |
2: 158,050,341 (GRCm39) |
F714L |
probably benign |
Het |
Dguok |
A |
T |
6: 83,464,110 (GRCm39) |
Y126* |
probably null |
Het |
Dnai1 |
A |
G |
4: 41,603,232 (GRCm39) |
K172E |
probably benign |
Het |
Dnai2 |
T |
A |
11: 114,626,682 (GRCm39) |
|
probably null |
Het |
Efcab6 |
A |
T |
15: 83,777,163 (GRCm39) |
|
probably benign |
Het |
Eln |
A |
T |
5: 134,765,194 (GRCm39) |
|
probably null |
Het |
Epor |
T |
C |
9: 21,870,696 (GRCm39) |
T395A |
probably benign |
Het |
Evc2 |
G |
T |
5: 37,573,275 (GRCm39) |
E996* |
probably null |
Het |
Fam124b |
T |
A |
1: 80,191,364 (GRCm39) |
E6D |
probably benign |
Het |
Filip1 |
T |
A |
9: 79,767,374 (GRCm39) |
K146N |
probably damaging |
Het |
Filip1l |
T |
C |
16: 57,391,637 (GRCm39) |
S742P |
probably damaging |
Het |
Fsip2 |
G |
T |
2: 82,810,175 (GRCm39) |
V2165L |
probably benign |
Het |
Gcdh |
A |
T |
8: 85,617,539 (GRCm39) |
V227E |
possibly damaging |
Het |
Gm12185 |
T |
C |
11: 48,806,183 (GRCm39) |
N336S |
probably benign |
Het |
Gm12695 |
G |
T |
4: 96,627,214 (GRCm39) |
A399E |
possibly damaging |
Het |
Gm16503 |
T |
A |
4: 147,625,749 (GRCm39) |
V81E |
unknown |
Het |
Gpr137c |
T |
C |
14: 45,517,428 (GRCm39) |
V388A |
probably benign |
Het |
Hgf |
A |
G |
5: 16,766,010 (GRCm39) |
T49A |
possibly damaging |
Het |
Hspa1a |
G |
T |
17: 35,189,938 (GRCm39) |
R322S |
probably benign |
Het |
Kif11 |
C |
T |
19: 37,379,224 (GRCm39) |
T305I |
possibly damaging |
Het |
Lcor |
T |
A |
19: 41,546,806 (GRCm39) |
V130E |
probably damaging |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 41,401,416 (GRCm39) |
|
probably null |
Het |
Mdga1 |
G |
A |
17: 30,069,579 (GRCm39) |
R430C |
probably damaging |
Het |
Mfsd12 |
T |
A |
10: 81,198,090 (GRCm39) |
|
probably null |
Het |
Mmp27 |
T |
A |
9: 7,578,898 (GRCm39) |
|
probably null |
Het |
Mtnr1a |
A |
T |
8: 45,540,471 (GRCm39) |
N144I |
probably benign |
Het |
Mycbp2 |
T |
C |
14: 103,383,407 (GRCm39) |
T3563A |
probably damaging |
Het |
Myef2 |
T |
A |
2: 124,940,765 (GRCm39) |
M355L |
probably benign |
Het |
Or4a39 |
A |
G |
2: 89,236,770 (GRCm39) |
F218L |
probably benign |
Het |
Or5b104 |
A |
G |
19: 13,072,748 (GRCm39) |
I88T |
probably benign |
Het |
Or5p51 |
C |
T |
7: 107,444,619 (GRCm39) |
G107D |
probably benign |
Het |
Or8k27 |
T |
A |
2: 86,275,420 (GRCm39) |
H302L |
probably benign |
Het |
Parg |
A |
G |
14: 31,939,653 (GRCm39) |
K560E |
probably damaging |
Het |
Pck2 |
G |
A |
14: 55,781,525 (GRCm39) |
|
probably null |
Het |
Pdcd6 |
T |
C |
13: 74,452,119 (GRCm39) |
I174V |
probably benign |
Het |
Pomgnt1 |
T |
C |
4: 116,009,066 (GRCm39) |
L57S |
probably damaging |
Het |
Pomgnt1 |
C |
A |
4: 116,009,117 (GRCm39) |
P74Q |
probably benign |
Het |
Prdm4 |
T |
C |
10: 85,743,817 (GRCm39) |
Y146C |
probably damaging |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Prune2 |
A |
G |
19: 16,998,006 (GRCm39) |
M248V |
probably damaging |
Het |
Ric8b |
T |
A |
10: 84,837,702 (GRCm39) |
M503K |
probably damaging |
Het |
Ror2 |
C |
T |
13: 53,264,444 (GRCm39) |
V871M |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,758,897 (GRCm39) |
N3427S |
possibly damaging |
Het |
Ryr2 |
A |
G |
13: 11,600,288 (GRCm39) |
|
probably null |
Het |
Scimp |
C |
T |
11: 70,691,540 (GRCm39) |
V30I |
probably damaging |
Het |
Skint4 |
A |
G |
4: 112,003,689 (GRCm39) |
E374G |
probably benign |
Het |
Slc6a20a |
A |
G |
9: 123,469,652 (GRCm39) |
Y482H |
probably damaging |
Het |
Slitrk5 |
A |
G |
14: 111,917,821 (GRCm39) |
S482G |
probably benign |
Het |
Spopfm2 |
T |
G |
3: 94,083,601 (GRCm39) |
D70A |
possibly damaging |
Het |
Strc |
T |
A |
2: 121,201,518 (GRCm39) |
M1229L |
possibly damaging |
Het |
Tasor2 |
G |
T |
13: 3,624,853 (GRCm39) |
T1699K |
possibly damaging |
Het |
Terf2 |
T |
C |
8: 107,809,640 (GRCm39) |
Y226C |
probably damaging |
Het |
Tex10 |
A |
T |
4: 48,460,059 (GRCm39) |
L431I |
possibly damaging |
Het |
Tnc |
A |
G |
4: 63,902,867 (GRCm39) |
V1470A |
possibly damaging |
Het |
Ttll13 |
T |
C |
7: 79,903,364 (GRCm39) |
I248T |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,619,369 (GRCm39) |
N16031S |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,587,104 (GRCm39) |
K21631M |
probably damaging |
Het |
Uroc1 |
A |
T |
6: 90,322,351 (GRCm39) |
S292C |
probably damaging |
Het |
Vmn1r80 |
A |
T |
7: 11,927,588 (GRCm39) |
M233L |
probably benign |
Het |
Wdr31 |
A |
T |
4: 62,378,840 (GRCm39) |
M129K |
probably damaging |
Het |
Wnk1 |
A |
T |
6: 119,914,539 (GRCm39) |
N1754K |
probably damaging |
Het |
Xirp1 |
G |
A |
9: 119,845,695 (GRCm39) |
Q1063* |
probably null |
Het |
Zfp799 |
C |
A |
17: 33,041,084 (GRCm39) |
V32L |
probably damaging |
Het |
Zfyve9 |
A |
T |
4: 108,546,386 (GRCm39) |
D874E |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGGAATATTGGCTTGGCTGAC -3'
(R):5'- CATGGCATGGTCATCTAGGG -3'
Sequencing Primer
(F):5'- AATATTGGCTTGGCTGACTATGC -3'
(R):5'- GTCATCTAGGGACCCACTCAC -3'
|
Posted On |
2014-08-25 |