Incidental Mutation 'R0531:Jak3'
| ID |
49160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jak3
|
| Ensembl Gene |
ENSMUSG00000031805 |
| Gene Name |
Janus kinase 3 |
| Synonyms |
|
| MMRRC Submission |
038723-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.664)
|
| Stock # |
R0531 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
72129027-72143221 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 72139620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 benign
Transcript: ENSMUST00000051995
|
| SMART Domains |
Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
| 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 benign
Transcript: ENSMUST00000110012
|
| SMART Domains |
Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
| 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 benign
Transcript: ENSMUST00000110013
|
| SMART Domains |
Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
100% (69/69) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,892,127 (GRCm39) |
N130D |
probably benign |
Het |
| Acot6 |
C |
A |
12: 84,148,075 (GRCm39) |
D110E |
probably benign |
Het |
| Agrn |
T |
A |
4: 156,263,891 (GRCm39) |
N124I |
probably benign |
Het |
| Astn1 |
G |
T |
1: 158,427,959 (GRCm39) |
G710V |
probably damaging |
Het |
| Bcar3 |
T |
C |
3: 122,220,148 (GRCm39) |
V15A |
probably benign |
Het |
| Best3 |
T |
C |
10: 116,840,280 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,090,974 (GRCm39) |
I743N |
probably damaging |
Het |
| Cenpa |
T |
C |
5: 30,829,837 (GRCm39) |
F39L |
possibly damaging |
Het |
| Cfap44 |
A |
T |
16: 44,221,789 (GRCm39) |
M1L |
probably benign |
Het |
| Chrnd |
A |
G |
1: 87,122,541 (GRCm39) |
I107M |
probably damaging |
Het |
| Col11a2 |
A |
G |
17: 34,277,351 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,889,787 (GRCm39) |
|
probably null |
Het |
| Entpd8 |
A |
G |
2: 24,974,781 (GRCm39) |
Y404C |
probably damaging |
Het |
| Fam118a |
T |
C |
15: 84,932,633 (GRCm39) |
I125T |
possibly damaging |
Het |
| Fam161a |
G |
A |
11: 22,970,298 (GRCm39) |
E159K |
possibly damaging |
Het |
| Fkbp5 |
A |
T |
17: 28,657,003 (GRCm39) |
H71Q |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,427,375 (GRCm39) |
Y2926N |
probably damaging |
Het |
| Gap43 |
A |
T |
16: 42,112,691 (GRCm39) |
D23E |
probably damaging |
Het |
| Glt8d1 |
T |
C |
14: 30,728,461 (GRCm39) |
F3S |
probably benign |
Het |
| Gm11555 |
C |
T |
11: 99,540,844 (GRCm39) |
|
probably benign |
Het |
| Gtpbp1 |
G |
A |
15: 79,604,292 (GRCm39) |
G667S |
probably damaging |
Het |
| H2-T24 |
A |
C |
17: 36,326,463 (GRCm39) |
S145R |
probably benign |
Het |
| Inpp5b |
A |
T |
4: 124,689,249 (GRCm39) |
N843I |
probably damaging |
Het |
| Krt8 |
T |
A |
15: 101,909,883 (GRCm39) |
M174L |
probably benign |
Het |
| Ktn1 |
C |
T |
14: 47,901,398 (GRCm39) |
T52I |
probably damaging |
Het |
| Lrp4 |
T |
C |
2: 91,305,523 (GRCm39) |
|
probably benign |
Het |
| Nefh |
G |
A |
11: 4,890,240 (GRCm39) |
A793V |
probably damaging |
Het |
| Niban1 |
T |
C |
1: 151,593,835 (GRCm39) |
V840A |
probably benign |
Het |
| Notch1 |
A |
G |
2: 26,356,584 (GRCm39) |
S1678P |
probably benign |
Het |
| Notch2 |
C |
T |
3: 98,009,767 (GRCm39) |
|
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 88,762,112 (GRCm39) |
F53S |
probably damaging |
Het |
| Or10d4c |
A |
G |
9: 39,558,168 (GRCm39) |
T49A |
probably benign |
Het |
| Or2ab1 |
A |
G |
11: 58,488,674 (GRCm39) |
I151V |
probably benign |
Het |
| Or5ac25 |
T |
A |
16: 59,182,171 (GRCm39) |
N137Y |
probably damaging |
Het |
| Or6z5 |
A |
T |
7: 6,477,234 (GRCm39) |
I42F |
possibly damaging |
Het |
| Or8g17 |
G |
T |
9: 38,930,472 (GRCm39) |
R122S |
probably damaging |
Het |
| Or9i16 |
C |
T |
19: 13,865,116 (GRCm39) |
V153I |
possibly damaging |
Het |
| Pak4 |
T |
A |
7: 28,267,479 (GRCm39) |
I62F |
possibly damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,570,371 (GRCm39) |
F506I |
probably damaging |
Het |
| Per1 |
A |
T |
11: 68,995,016 (GRCm39) |
D632V |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,061,498 (GRCm39) |
M2678T |
probably benign |
Het |
| Plg |
A |
G |
17: 12,630,334 (GRCm39) |
|
probably benign |
Het |
| Prmt1 |
A |
T |
7: 44,627,048 (GRCm39) |
S304R |
probably damaging |
Het |
| Prr27 |
T |
C |
5: 87,990,537 (GRCm39) |
F50L |
probably benign |
Het |
| Prune2 |
T |
C |
19: 16,984,117 (GRCm39) |
L159P |
probably damaging |
Het |
| Ptpn12 |
A |
T |
5: 21,203,481 (GRCm39) |
N432K |
possibly damaging |
Het |
| Rfwd3 |
A |
G |
8: 112,020,621 (GRCm39) |
|
probably null |
Het |
| Rims2 |
A |
T |
15: 39,430,426 (GRCm39) |
D1170V |
probably damaging |
Het |
| Sag |
T |
C |
1: 87,762,351 (GRCm39) |
|
probably null |
Het |
| Sall4 |
C |
T |
2: 168,598,256 (GRCm39) |
A195T |
probably benign |
Het |
| Sbf2 |
G |
A |
7: 109,966,530 (GRCm39) |
|
probably benign |
Het |
| Scaper |
A |
T |
9: 55,517,158 (GRCm39) |
D599E |
possibly damaging |
Het |
| Sema7a |
G |
A |
9: 57,867,876 (GRCm39) |
S484N |
possibly damaging |
Het |
| Senp1 |
A |
G |
15: 97,962,761 (GRCm39) |
|
probably benign |
Het |
| Senp6 |
A |
G |
9: 80,031,166 (GRCm39) |
T623A |
probably damaging |
Het |
| Siae |
A |
G |
9: 37,539,090 (GRCm39) |
D95G |
probably benign |
Het |
| Slc26a2 |
T |
C |
18: 61,331,451 (GRCm39) |
D660G |
probably damaging |
Het |
| Slc3a1 |
T |
C |
17: 85,336,077 (GRCm39) |
F73S |
possibly damaging |
Het |
| Slfn5 |
A |
T |
11: 82,851,866 (GRCm39) |
Q664L |
probably damaging |
Het |
| Spire1 |
T |
C |
18: 67,624,375 (GRCm39) |
I512V |
probably damaging |
Het |
| Srpra |
A |
G |
9: 35,124,797 (GRCm39) |
T133A |
probably benign |
Het |
| Stag1 |
A |
G |
9: 100,836,300 (GRCm39) |
*175W |
probably null |
Het |
| Stk32c |
C |
A |
7: 138,700,636 (GRCm39) |
V316F |
probably damaging |
Het |
| Tekt1 |
A |
C |
11: 72,236,420 (GRCm39) |
N347K |
possibly damaging |
Het |
| Tmem81 |
C |
G |
1: 132,435,567 (GRCm39) |
I124M |
probably damaging |
Het |
| Tnpo2 |
T |
A |
8: 85,776,786 (GRCm39) |
C498S |
probably damaging |
Het |
| Tra2b |
G |
A |
16: 22,065,955 (GRCm39) |
R281* |
probably null |
Het |
| Ubr5 |
A |
T |
15: 37,991,588 (GRCm39) |
I1985N |
probably benign |
Het |
| Ush2a |
T |
G |
1: 188,175,378 (GRCm39) |
S1159A |
probably benign |
Het |
| Vmn1r15 |
C |
T |
6: 57,235,236 (GRCm39) |
P35S |
probably benign |
Het |
| Vmn1r6 |
A |
T |
6: 56,979,583 (GRCm39) |
I60L |
probably benign |
Het |
| Vps8 |
A |
G |
16: 21,278,561 (GRCm39) |
|
probably benign |
Het |
| Xkr7 |
T |
C |
2: 152,874,272 (GRCm39) |
V113A |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATACTTCACATTGACGACTCCC -3'
(R):5'- AAAGTATTCCCAGTCAGGCACCGC -3'
Sequencing Primer
(F):5'- AGGCCACTGTTTCACACC -3'
(R):5'- ATCATGCTCAGGAACTCCTGTG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation