Incidental Mutation 'R6798:Jak3'
| ID |
533115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jak3
|
| Ensembl Gene |
ENSMUSG00000031805 |
| Gene Name |
Janus kinase 3 |
| Synonyms |
|
| MMRRC Submission |
044911-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.702)
|
| Stock # |
R6798 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
72129027-72143221 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 72133615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 408
(F408V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051995]
[ENSMUST00000110012]
[ENSMUST00000110013]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051995
AA Change: F408V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
AA Change: F408V
| 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: F408V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
AA Change: F408V
| 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: F408V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
AA Change: F408V
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
| Validation Efficiency |
97% (73/75) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
C |
5: 8,782,364 (GRCm39) |
Y916H |
probably damaging |
Het |
| Adam11 |
A |
G |
11: 102,667,834 (GRCm39) |
I740V |
probably damaging |
Het |
| Adam22 |
A |
T |
5: 8,210,784 (GRCm39) |
D161E |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,703,280 (GRCm39) |
|
probably null |
Het |
| Ank2 |
T |
C |
3: 126,737,913 (GRCm39) |
|
probably benign |
Het |
| Aspm |
T |
A |
1: 139,396,423 (GRCm39) |
H867Q |
possibly damaging |
Het |
| Aurkaip1 |
T |
C |
4: 155,917,196 (GRCm39) |
|
probably null |
Het |
| BC048507 |
A |
C |
13: 68,011,683 (GRCm39) |
D20A |
probably benign |
Het |
| Cacna1a |
G |
A |
8: 85,338,231 (GRCm39) |
A1704T |
probably damaging |
Het |
| Cep152 |
A |
C |
2: 125,408,447 (GRCm39) |
|
probably null |
Het |
| Cep19 |
T |
C |
16: 31,922,867 (GRCm39) |
|
probably null |
Het |
| Cfhr4 |
T |
C |
1: 139,625,859 (GRCm39) |
T813A |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,778,182 (GRCm39) |
E2731V |
possibly damaging |
Het |
| Chrd |
T |
C |
16: 20,553,056 (GRCm39) |
L139P |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,064,585 (GRCm39) |
E489G |
possibly damaging |
Het |
| Clcn7 |
A |
G |
17: 25,378,734 (GRCm39) |
N720D |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,722,731 (GRCm39) |
|
probably null |
Het |
| Dchs2 |
T |
A |
3: 83,255,593 (GRCm39) |
Y2430N |
probably damaging |
Het |
| Dpy30 |
A |
G |
17: 74,614,751 (GRCm39) |
I64T |
probably damaging |
Het |
| Eif2b3 |
G |
T |
4: 116,923,655 (GRCm39) |
W290L |
probably benign |
Het |
| Epha6 |
T |
G |
16: 60,425,427 (GRCm39) |
E62A |
possibly damaging |
Het |
| Epha6 |
C |
T |
16: 60,425,428 (GRCm39) |
E62K |
possibly damaging |
Het |
| Epha8 |
C |
T |
4: 136,672,980 (GRCm39) |
R268Q |
probably benign |
Het |
| Fbxw17 |
C |
A |
13: 50,587,300 (GRCm39) |
|
probably null |
Het |
| Fndc8 |
C |
T |
11: 82,783,217 (GRCm39) |
T66I |
probably benign |
Het |
| Frmpd1 |
A |
G |
4: 45,284,850 (GRCm39) |
T1224A |
probably benign |
Het |
| Gcm2 |
T |
C |
13: 41,259,361 (GRCm39) |
D36G |
probably damaging |
Het |
| Glt28d2 |
T |
C |
3: 85,779,296 (GRCm39) |
D59G |
probably benign |
Het |
| Gorasp1 |
T |
C |
9: 119,758,663 (GRCm39) |
D243G |
probably benign |
Het |
| Gtsf1l |
T |
C |
2: 162,929,391 (GRCm39) |
K31E |
probably benign |
Het |
| Heatr5a |
A |
G |
12: 51,928,048 (GRCm39) |
V1816A |
probably benign |
Het |
| Il10ra |
T |
C |
9: 45,167,730 (GRCm39) |
K274E |
probably damaging |
Het |
| Il1rl2 |
T |
C |
1: 40,404,400 (GRCm39) |
I507T |
probably damaging |
Het |
| Kdm1b |
A |
G |
13: 47,222,012 (GRCm39) |
T484A |
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Map9 |
T |
G |
3: 82,287,471 (GRCm39) |
L31W |
probably damaging |
Het |
| Mical2 |
T |
C |
7: 111,975,266 (GRCm39) |
|
probably benign |
Het |
| Mt1 |
A |
G |
8: 94,906,516 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
T |
C |
5: 112,909,252 (GRCm39) |
I1964V |
probably damaging |
Het |
| Nalf1 |
G |
A |
8: 9,820,205 (GRCm39) |
Q272* |
probably null |
Het |
| Nod1 |
A |
T |
6: 54,921,596 (GRCm39) |
C241S |
probably damaging |
Het |
| Nrxn1 |
T |
A |
17: 90,937,378 (GRCm39) |
D685V |
probably damaging |
Het |
| Oog1 |
A |
T |
12: 87,655,609 (GRCm39) |
|
probably null |
Het |
| Or11a4 |
T |
G |
17: 37,536,697 (GRCm39) |
L227R |
probably damaging |
Het |
| Or2ag13 |
T |
C |
7: 106,313,402 (GRCm39) |
Y162C |
probably damaging |
Het |
| Or4k2 |
A |
G |
14: 50,424,584 (GRCm39) |
V30A |
probably benign |
Het |
| Or56b1b |
T |
A |
7: 108,164,967 (GRCm39) |
K12* |
probably null |
Het |
| P4htm |
T |
A |
9: 108,460,117 (GRCm39) |
N219I |
possibly damaging |
Het |
| Pcif1 |
T |
C |
2: 164,727,711 (GRCm39) |
L168P |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,795,850 (GRCm39) |
V46A |
probably benign |
Het |
| Pias1 |
T |
C |
9: 62,799,451 (GRCm39) |
T480A |
probably benign |
Het |
| Prkd2 |
A |
T |
7: 16,583,128 (GRCm39) |
K297* |
probably null |
Het |
| Prl7d1 |
T |
A |
13: 27,893,380 (GRCm39) |
|
probably null |
Het |
| Pxdc1 |
G |
T |
13: 34,836,408 (GRCm39) |
A4E |
possibly damaging |
Het |
| Rcor1 |
A |
G |
12: 111,006,320 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
A |
T |
10: 39,730,759 (GRCm39) |
D2761V |
probably damaging |
Het |
| Scgb1b7 |
A |
G |
7: 31,412,406 (GRCm39) |
T61A |
probably damaging |
Het |
| Sec14l2 |
A |
G |
11: 4,061,213 (GRCm39) |
Y83H |
probably damaging |
Het |
| Setd4 |
C |
A |
16: 93,386,841 (GRCm39) |
V286F |
probably damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,137,968 (GRCm39) |
S536P |
probably benign |
Het |
| Snx25 |
T |
C |
8: 46,486,810 (GRCm39) |
H977R |
probably damaging |
Het |
| Spint5 |
T |
A |
2: 164,559,060 (GRCm39) |
C95* |
probably null |
Het |
| Sprr5 |
G |
C |
3: 92,440,243 (GRCm39) |
C65W |
unknown |
Het |
| Srgap1 |
T |
C |
10: 121,761,809 (GRCm39) |
D113G |
probably damaging |
Het |
| Stxbp2 |
T |
A |
8: 3,691,180 (GRCm39) |
S476T |
probably benign |
Het |
| Tg |
A |
G |
15: 66,550,688 (GRCm39) |
T273A |
probably damaging |
Het |
| Tnc |
C |
T |
4: 63,883,841 (GRCm39) |
R1868H |
probably benign |
Het |
| Trappc10 |
A |
G |
10: 78,024,665 (GRCm39) |
Y1155H |
probably benign |
Het |
| Trpm2 |
T |
A |
10: 77,750,574 (GRCm39) |
N1341Y |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfand1 |
T |
G |
3: 10,411,236 (GRCm39) |
K67T |
probably benign |
Het |
| Zfand4 |
A |
C |
6: 116,305,214 (GRCm39) |
K214Q |
probably benign |
Het |
| Zfp653 |
A |
T |
9: 21,968,668 (GRCm39) |
V465E |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,766,060 (GRCm39) |
Y782C |
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 |
|
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'- AGCTAGTTGGGGTCACAGTG -3'
(R):5'- CTGAGACTGTTTCCTGAGCTC -3'
Sequencing Primer
(F):5'- TCACAGTGGGGATGGGGC -3'
(R):5'- TGTAGATGCAAGTCACCGTGC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation