Incidental Mutation 'IGL03089:Jak3'
| ID |
418305 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Jak3
|
| Ensembl Gene |
ENSMUSG00000031805 |
| Gene Name |
Janus kinase 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.702)
|
| Stock # |
IGL03089
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
72129027-72143221 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72138727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 975
(D975G)
|
| 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
AA Change: D975G
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
AA Change: D975G
| 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
AA Change: D975G
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
AA Change: D975G
| 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
AA Change: D975G
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
AA Change: D975G
| 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
|
| Coding Region Coverage |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl4 |
A |
G |
3: 95,584,556 (GRCm39) |
S947P |
probably damaging |
Het |
| Agl |
T |
A |
3: 116,574,672 (GRCm39) |
H709L |
probably damaging |
Het |
| Alpi |
T |
A |
1: 87,027,830 (GRCm39) |
D250V |
probably benign |
Het |
| Anapc4 |
A |
G |
5: 53,023,740 (GRCm39) |
S735G |
probably benign |
Het |
| Ank1 |
A |
T |
8: 23,594,848 (GRCm39) |
I611L |
probably benign |
Het |
| Canx |
A |
G |
11: 50,195,309 (GRCm39) |
V253A |
possibly damaging |
Het |
| Cbfa2t3 |
A |
T |
8: 123,361,873 (GRCm39) |
I383N |
probably damaging |
Het |
| Ccn3 |
C |
T |
15: 54,612,680 (GRCm39) |
R230C |
possibly damaging |
Het |
| Cdc23 |
T |
C |
18: 34,767,513 (GRCm39) |
Y519C |
probably damaging |
Het |
| Celsr3 |
T |
A |
9: 108,703,806 (GRCm39) |
N96K |
probably benign |
Het |
| Clptm1 |
A |
G |
7: 19,371,072 (GRCm39) |
Y355H |
probably damaging |
Het |
| Col6a5 |
C |
T |
9: 105,811,038 (GRCm39) |
S827N |
unknown |
Het |
| Cyp21a1 |
G |
T |
17: 35,022,420 (GRCm39) |
|
probably null |
Het |
| Cyp24a1 |
T |
G |
2: 170,327,886 (GRCm39) |
H452P |
probably damaging |
Het |
| Cyp2c39 |
T |
A |
19: 39,552,295 (GRCm39) |
H329Q |
probably benign |
Het |
| D630003M21Rik |
C |
T |
2: 158,058,664 (GRCm39) |
R412Q |
probably benign |
Het |
| Dennd1b |
G |
A |
1: 139,029,767 (GRCm39) |
R308Q |
possibly damaging |
Het |
| Deup1 |
T |
C |
9: 15,519,096 (GRCm39) |
S137G |
possibly damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,712,778 (GRCm39) |
I1583N |
probably damaging |
Het |
| Dvl1 |
G |
A |
4: 155,939,609 (GRCm39) |
V320M |
probably damaging |
Het |
| Elmod3 |
A |
G |
6: 72,546,299 (GRCm39) |
S254P |
probably damaging |
Het |
| Emsy |
G |
A |
7: 98,286,473 (GRCm39) |
Q226* |
probably null |
Het |
| Ephb6 |
C |
A |
6: 41,591,108 (GRCm39) |
D88E |
probably damaging |
Het |
| Exoc1 |
A |
G |
5: 76,690,005 (GRCm39) |
M182V |
possibly damaging |
Het |
| Fbxw4 |
T |
G |
19: 45,580,160 (GRCm39) |
|
probably benign |
Het |
| Fgr |
A |
G |
4: 132,713,577 (GRCm39) |
D35G |
probably damaging |
Het |
| Gm20547 |
A |
T |
17: 35,080,008 (GRCm39) |
D366E |
probably damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,004,988 (GRCm39) |
N599S |
probably damaging |
Het |
| Ighg2b |
G |
A |
12: 113,270,298 (GRCm39) |
P240L |
probably damaging |
Het |
| Klhl26 |
A |
T |
8: 70,908,283 (GRCm39) |
N24K |
probably benign |
Het |
| Letm1 |
T |
A |
5: 33,918,202 (GRCm39) |
E314D |
probably damaging |
Het |
| Lin54 |
A |
T |
5: 100,598,852 (GRCm39) |
F319L |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,670,314 (GRCm39) |
|
probably null |
Het |
| Lvrn |
T |
C |
18: 47,013,776 (GRCm39) |
F486S |
probably damaging |
Het |
| Or1e19 |
T |
C |
11: 73,316,009 (GRCm39) |
T267A |
probably benign |
Het |
| Or2h1b |
A |
G |
17: 37,462,534 (GRCm39) |
C110R |
probably damaging |
Het |
| Or4c113 |
T |
C |
2: 88,885,357 (GRCm39) |
R138G |
probably benign |
Het |
| Or51m1 |
A |
C |
7: 103,578,329 (GRCm39) |
I100L |
probably benign |
Het |
| Or8g54 |
A |
T |
9: 39,706,977 (GRCm39) |
Y102F |
probably benign |
Het |
| Pramel24 |
A |
G |
4: 143,452,703 (GRCm39) |
T45A |
probably benign |
Het |
| Sap30bp |
T |
A |
11: 115,848,214 (GRCm39) |
M112K |
possibly damaging |
Het |
| Sbno1 |
A |
G |
5: 124,525,374 (GRCm39) |
|
probably benign |
Het |
| Slc30a5 |
T |
C |
13: 100,950,338 (GRCm39) |
I307V |
probably benign |
Het |
| Trim37 |
T |
A |
11: 87,080,963 (GRCm39) |
D21E |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,396,958 (GRCm39) |
F614S |
possibly damaging |
Het |
| Usp39 |
A |
C |
6: 72,305,622 (GRCm39) |
F387C |
probably damaging |
Het |
| Vipas39 |
C |
T |
12: 87,300,028 (GRCm39) |
C149Y |
probably damaging |
Het |
| Vmn2r107 |
C |
A |
17: 20,595,974 (GRCm39) |
H842Q |
probably benign |
Het |
| Vps18 |
T |
A |
2: 119,123,658 (GRCm39) |
V195E |
probably benign |
Het |
| Vsx1 |
A |
G |
2: 150,527,510 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation