Incidental Mutation 'R9320:Jak3'
| ID |
706101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jak3
|
| Ensembl Gene |
ENSMUSG00000031805 |
| Gene Name |
Janus kinase 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.664)
|
| Stock # |
R9320 (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 T
at 72134265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 456
(N456Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051995]
[ENSMUST00000110012]
[ENSMUST00000110013]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051995
AA Change: N456Y
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
AA Change: N456Y
| 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: N456Y
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
AA Change: N456Y
| 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: N456Y
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
AA Change: N456Y
| 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: 99.5%
- 20x: 98.2%
|
| 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 |
|---|
| Abca16 |
T |
C |
7: 120,139,320 (GRCm39) |
Y1451H |
probably damaging |
Het |
| Abca7 |
T |
A |
10: 79,833,471 (GRCm39) |
M8K |
possibly damaging |
Het |
| Ablim3 |
C |
A |
18: 61,972,805 (GRCm39) |
R238L |
probably damaging |
Het |
| Adar |
T |
A |
3: 89,658,368 (GRCm39) |
Y1141* |
probably null |
Het |
| Arid2 |
T |
C |
15: 96,269,067 (GRCm39) |
I1060T |
probably damaging |
Het |
| Armc2 |
A |
T |
10: 41,839,774 (GRCm39) |
V397D |
possibly damaging |
Het |
| Astn2 |
A |
G |
4: 66,322,386 (GRCm39) |
V71A |
unknown |
Het |
| Bcat2 |
A |
G |
7: 45,234,542 (GRCm39) |
D141G |
probably damaging |
Het |
| Bicdl1 |
C |
A |
5: 115,862,769 (GRCm39) |
R162L |
probably damaging |
Het |
| Btbd17 |
A |
G |
11: 114,684,910 (GRCm39) |
I43T |
possibly damaging |
Het |
| C2cd5 |
A |
T |
6: 142,977,019 (GRCm39) |
C698* |
probably null |
Het |
| Calr |
T |
A |
8: 85,572,629 (GRCm39) |
K87* |
probably null |
Het |
| Cap2 |
C |
T |
13: 46,768,818 (GRCm39) |
T208I |
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,364,780 (GRCm39) |
M1630L |
probably benign |
Het |
| Copg1 |
T |
G |
6: 87,887,072 (GRCm39) |
S816A |
possibly damaging |
Het |
| Csf2ra |
C |
A |
19: 61,215,280 (GRCm39) |
A112S |
possibly damaging |
Het |
| Cwc27 |
T |
A |
13: 104,933,799 (GRCm39) |
H241L |
probably benign |
Het |
| Dgki |
T |
A |
6: 36,892,422 (GRCm39) |
E852V |
probably damaging |
Het |
| Dpp6 |
T |
C |
5: 27,868,521 (GRCm39) |
|
probably null |
Het |
| Dynlrb1 |
T |
C |
2: 155,089,860 (GRCm39) |
|
probably null |
Het |
| Ehhadh |
C |
T |
16: 21,592,281 (GRCm39) |
V141I |
probably benign |
Het |
| Esyt3 |
A |
G |
9: 99,194,044 (GRCm39) |
L865P |
probably damaging |
Het |
| Fam83h |
T |
A |
15: 75,873,924 (GRCm39) |
T1138S |
possibly damaging |
Het |
| Fzd4 |
T |
C |
7: 89,056,912 (GRCm39) |
W320R |
probably damaging |
Het |
| Gimap7 |
A |
T |
6: 48,701,260 (GRCm39) |
K282M |
probably benign |
Het |
| Gnai2 |
G |
A |
9: 107,492,913 (GRCm39) |
T330I |
|
Het |
| Gpr107 |
T |
C |
2: 31,078,728 (GRCm39) |
S388P |
possibly damaging |
Het |
| Il1a |
T |
G |
2: 129,142,654 (GRCm39) |
M264L |
probably benign |
Het |
| Ints10 |
A |
T |
8: 69,279,951 (GRCm39) |
I693F |
probably damaging |
Het |
| Krcc1 |
A |
G |
6: 71,261,457 (GRCm39) |
E163G |
probably benign |
Het |
| Lctl |
A |
G |
9: 64,040,455 (GRCm39) |
Y466C |
probably damaging |
Het |
| Lrp12 |
A |
T |
15: 39,741,357 (GRCm39) |
S472T |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,335,111 (GRCm39) |
|
probably null |
Het |
| Lrriq1 |
T |
A |
10: 103,057,144 (GRCm39) |
M219L |
probably benign |
Het |
| Mbl2 |
T |
A |
19: 30,216,741 (GRCm39) |
D184E |
probably damaging |
Het |
| Mrgpra9 |
G |
A |
7: 46,885,392 (GRCm39) |
R92C |
probably benign |
Het |
| Mroh4 |
G |
A |
15: 74,483,405 (GRCm39) |
T644I |
probably damaging |
Het |
| Muc5ac |
C |
T |
7: 141,369,255 (GRCm39) |
A3114V |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,029,152 (GRCm39) |
M1197L |
|
Het |
| Naga |
C |
T |
15: 82,221,084 (GRCm39) |
G71S |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Nsd3 |
A |
G |
8: 26,199,088 (GRCm39) |
|
probably null |
Het |
| Nsun6 |
T |
C |
2: 15,047,048 (GRCm39) |
T101A |
probably benign |
Het |
| Or55b10 |
T |
A |
7: 102,144,084 (GRCm39) |
|
probably benign |
Het |
| Pabpc4l |
T |
A |
3: 46,401,326 (GRCm39) |
D106V |
probably damaging |
Het |
| Pdlim5 |
G |
A |
3: 141,953,109 (GRCm39) |
P529L |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,755,843 (GRCm39) |
L1111P |
possibly damaging |
Het |
| Rangap1 |
T |
C |
15: 81,606,221 (GRCm39) |
D40G |
probably benign |
Het |
| Ripor2 |
T |
C |
13: 24,915,663 (GRCm39) |
F1078L |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,610,336 (GRCm39) |
D2312G |
probably damaging |
Het |
| Siglecg |
T |
A |
7: 43,058,853 (GRCm39) |
I202N |
probably benign |
Het |
| Slco4c1 |
G |
T |
1: 96,795,644 (GRCm39) |
S138* |
probably null |
Het |
| Snx27 |
T |
C |
3: 94,431,593 (GRCm39) |
Y267C |
probably damaging |
Het |
| Sphk2 |
C |
T |
7: 45,361,179 (GRCm39) |
R275H |
probably damaging |
Het |
| Stk36 |
T |
A |
1: 74,655,793 (GRCm39) |
V432E |
possibly damaging |
Het |
| Tecrl |
C |
T |
5: 83,428,422 (GRCm39) |
S283N |
possibly damaging |
Het |
| Tenm2 |
T |
A |
11: 35,914,474 (GRCm39) |
E2354D |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,937,822 (GRCm39) |
V186A |
possibly damaging |
Het |
| Try4 |
T |
C |
6: 41,282,008 (GRCm39) |
|
probably null |
Het |
| Ubr1 |
C |
A |
2: 120,727,000 (GRCm39) |
G1248V |
probably benign |
Het |
| Umod |
C |
T |
7: 119,065,355 (GRCm39) |
G558E |
probably damaging |
Het |
| Unc13b |
T |
C |
4: 43,171,044 (GRCm39) |
F624S |
unknown |
Het |
| Uvssa |
T |
G |
5: 33,547,365 (GRCm39) |
D310E |
probably benign |
Het |
| Vmn1r222 |
A |
T |
13: 23,416,418 (GRCm39) |
M265K |
probably benign |
Het |
| Vmn1r3 |
A |
G |
4: 3,185,284 (GRCm39) |
F8L |
probably benign |
Het |
| Zfp268 |
C |
G |
4: 145,349,156 (GRCm39) |
Q198E |
possibly damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,517 (GRCm39) |
C412S |
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 |
|
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 |
|
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'- GAAGCATCCTTAGAGGTTGGAG -3'
(R):5'- TGATGTCTGAAGACTGTGCC -3'
Sequencing Primer
(F):5'- TGAGCATACAGTCTTCCAGAAAG -3'
(R):5'- GACTGTGCCAAAAAGTCGTGTTCTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation