Incidental Mutation 'R7070:Jak3'
ID |
548839 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Jak3
|
Ensembl Gene |
ENSMUSG00000031805 |
Gene Name |
Janus kinase 3 |
Synonyms |
|
MMRRC Submission |
045166-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.702)
|
Stock # |
R7070 (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 G
at 72137255 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 772
(D772G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105640
(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: D772G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000060073 Gene: ENSMUSG00000031805 AA Change: D772G
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: D772G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105639 Gene: ENSMUSG00000031805 AA Change: D772G
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: D772G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105640 Gene: ENSMUSG00000031805 AA Change: D772G
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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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 |
4930544G11Rik |
T |
C |
6: 65,930,232 (GRCm39) |
Y156H |
probably damaging |
Het |
Abca13 |
T |
A |
11: 9,240,701 (GRCm39) |
F855I |
probably benign |
Het |
Abca2 |
T |
G |
2: 25,333,007 (GRCm39) |
F1569V |
probably benign |
Het |
Adcy8 |
T |
A |
15: 64,792,404 (GRCm39) |
N184I |
probably damaging |
Het |
Akap3 |
T |
C |
6: 126,850,987 (GRCm39) |
V835A |
probably damaging |
Het |
Atg5 |
T |
A |
10: 44,162,150 (GRCm39) |
L22H |
probably damaging |
Het |
Atp13a5 |
A |
G |
16: 29,152,879 (GRCm39) |
F196L |
possibly damaging |
Het |
C1qtnf9 |
A |
G |
14: 61,017,232 (GRCm39) |
H254R |
probably damaging |
Het |
Capza3 |
C |
T |
6: 139,987,646 (GRCm39) |
R82C |
probably damaging |
Het |
Ccdc126 |
A |
G |
6: 49,316,796 (GRCm39) |
D92G |
probably damaging |
Het |
Cdh12 |
T |
A |
15: 21,583,915 (GRCm39) |
M585K |
probably benign |
Het |
Chrnb3 |
A |
T |
8: 27,883,989 (GRCm39) |
Y242F |
probably damaging |
Het |
Cngb3 |
T |
C |
4: 19,425,593 (GRCm39) |
V467A |
possibly damaging |
Het |
Cnot8 |
A |
G |
11: 58,008,278 (GRCm39) |
D248G |
probably benign |
Het |
Cntn1 |
C |
T |
15: 92,151,917 (GRCm39) |
T452M |
probably damaging |
Het |
Cygb |
C |
A |
11: 116,544,851 (GRCm39) |
|
probably benign |
Het |
D930020B18Rik |
G |
A |
10: 121,477,879 (GRCm39) |
V35M |
probably damaging |
Het |
Dcaf17 |
C |
T |
2: 70,918,857 (GRCm39) |
T477M |
probably benign |
Het |
Dpp3 |
A |
T |
19: 4,968,356 (GRCm39) |
F239I |
probably benign |
Het |
Dst |
T |
A |
1: 34,314,383 (GRCm39) |
V6442E |
probably damaging |
Het |
Enpp2 |
T |
A |
15: 54,762,685 (GRCm39) |
I188F |
probably damaging |
Het |
Galnt5 |
A |
G |
2: 57,888,621 (GRCm39) |
M74V |
probably benign |
Het |
Grin2a |
T |
C |
16: 9,397,288 (GRCm39) |
D933G |
possibly damaging |
Het |
Gtf2i |
T |
A |
5: 134,311,657 (GRCm39) |
E223D |
probably damaging |
Het |
H2-M5 |
C |
A |
17: 37,300,051 (GRCm39) |
G41V |
possibly damaging |
Het |
Hars2 |
C |
T |
18: 36,924,165 (GRCm39) |
R501* |
probably null |
Het |
Heatr4 |
A |
G |
12: 84,016,632 (GRCm39) |
V545A |
probably benign |
Het |
Hsd3b3 |
T |
A |
3: 98,649,787 (GRCm39) |
T179S |
possibly damaging |
Het |
Ighv5-6 |
A |
G |
12: 113,589,429 (GRCm39) |
V17A |
probably damaging |
Het |
Jakmip2 |
A |
T |
18: 43,690,393 (GRCm39) |
|
probably null |
Het |
Kcnj15 |
C |
G |
16: 95,096,690 (GRCm39) |
T104S |
probably damaging |
Het |
Kndc1 |
A |
G |
7: 139,501,744 (GRCm39) |
E927G |
probably damaging |
Het |
Larp1b |
G |
T |
3: 40,931,086 (GRCm39) |
G275C |
probably damaging |
Het |
Lyst |
C |
A |
13: 13,932,029 (GRCm39) |
H3552Q |
probably benign |
Het |
Mast2 |
A |
T |
4: 116,168,052 (GRCm39) |
I960N |
probably benign |
Het |
Mcee |
G |
A |
7: 64,050,078 (GRCm39) |
V70I |
possibly damaging |
Het |
Muc16 |
G |
A |
9: 18,557,219 (GRCm39) |
Q3025* |
probably null |
Het |
Nrg1 |
T |
A |
8: 32,339,465 (GRCm39) |
T45S |
probably damaging |
Het |
Nutm1 |
T |
A |
2: 112,079,806 (GRCm39) |
H703L |
probably benign |
Het |
Or5m10 |
G |
A |
2: 85,718,034 (GRCm39) |
V297I |
probably benign |
Het |
Or7a38 |
A |
T |
10: 78,753,102 (GRCm39) |
I143L |
probably benign |
Het |
Pbx1 |
A |
C |
1: 168,023,337 (GRCm39) |
C273G |
probably damaging |
Het |
Peg10 |
ACATCAGGATCC |
ACATCAGGATCCCCATCAGGATCC |
6: 4,756,454 (GRCm39) |
|
probably benign |
Het |
Phf1 |
A |
G |
17: 27,153,307 (GRCm39) |
T42A |
possibly damaging |
Het |
Pigm |
T |
A |
1: 172,205,233 (GRCm39) |
I323N |
probably damaging |
Het |
Plcg2 |
G |
A |
8: 118,323,045 (GRCm39) |
R700H |
probably benign |
Het |
Ptx4 |
G |
A |
17: 25,341,971 (GRCm39) |
A149T |
probably benign |
Het |
Rab6a |
A |
G |
7: 100,279,064 (GRCm39) |
D68G |
probably damaging |
Het |
Rcan3 |
C |
T |
4: 135,143,898 (GRCm39) |
E185K |
probably damaging |
Het |
Rnf14 |
A |
G |
18: 38,434,781 (GRCm39) |
N76S |
possibly damaging |
Het |
Rpf1 |
A |
T |
3: 146,217,939 (GRCm39) |
F192I |
probably damaging |
Het |
Rps6ka1 |
T |
C |
4: 133,588,759 (GRCm39) |
T285A |
probably benign |
Het |
Rrp8 |
T |
C |
7: 105,384,083 (GRCm39) |
K94E |
possibly damaging |
Het |
Rsbn1 |
A |
G |
3: 103,836,299 (GRCm39) |
K122E |
probably damaging |
Het |
Senp1 |
T |
C |
15: 97,980,187 (GRCm39) |
T53A |
possibly damaging |
Het |
Slc23a1 |
T |
G |
18: 35,754,834 (GRCm39) |
D519A |
probably damaging |
Het |
Slfn14 |
T |
G |
11: 83,167,531 (GRCm39) |
R661S |
probably benign |
Het |
Snta1 |
T |
C |
2: 154,222,979 (GRCm39) |
E248G |
probably benign |
Het |
Son |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
16: 91,453,729 (GRCm39) |
|
probably benign |
Het |
Spmap2l |
G |
T |
5: 77,195,124 (GRCm39) |
|
probably null |
Het |
Stk11ip |
C |
T |
1: 75,504,259 (GRCm39) |
H297Y |
probably benign |
Het |
Synpr |
T |
A |
14: 13,493,628 (GRCm38) |
F76I |
probably damaging |
Het |
Tns2 |
A |
G |
15: 102,012,968 (GRCm39) |
R27G |
possibly damaging |
Het |
Trav5-4 |
C |
T |
14: 53,941,912 (GRCm39) |
S95F |
possibly damaging |
Het |
Ttyh1 |
T |
C |
7: 4,136,363 (GRCm39) |
Y330H |
probably damaging |
Het |
Ugt1a2 |
T |
A |
1: 88,129,224 (GRCm39) |
|
probably null |
Het |
Vmn2r69 |
T |
C |
7: 85,060,688 (GRCm39) |
I299V |
probably damaging |
Het |
Vmn2r90 |
T |
A |
17: 17,924,313 (GRCm39) |
D37E |
probably 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 |
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 |
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'- AAATCGCGAGCTGAGCATC -3'
(R):5'- GTGACTTGGATACCCTCAGATG -3'
Sequencing Primer
(F):5'- CGAGCTGAGCATCGCAAC -3'
(R):5'- GAAATCCAGCCTGAGATGCTAGTTTG -3'
|
Posted On |
2019-05-13 |