Incidental Mutation 'PIT4515001:Jak3'
| ID |
556321 |
| 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 # |
PIT4515001 (G1)
|
| Quality Score |
163.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
72129027-72143221 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72132286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 217
(V217A)
|
| 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: V217A
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
AA Change: V217A
| 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: V217A
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
AA Change: V217A
| 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: V217A
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
AA Change: V217A
| 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: 93.4%
- 3x: 91.0%
- 10x: 86.0%
- 20x: 75.1%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,383,068 (GRCm39) |
R966* |
probably null |
Het |
| Adam32 |
A |
T |
8: 25,404,342 (GRCm39) |
I221K |
possibly damaging |
Het |
| Adcy6 |
T |
C |
15: 98,493,027 (GRCm39) |
T880A |
probably benign |
Het |
| Agpat5 |
T |
A |
8: 18,896,657 (GRCm39) |
Y28N |
probably damaging |
Het |
| Atg2a |
A |
G |
19: 6,303,615 (GRCm39) |
I1125V |
probably damaging |
Het |
| B4galt6 |
A |
G |
18: 20,821,524 (GRCm39) |
Y335H |
probably benign |
Het |
| Bend3 |
A |
T |
10: 43,386,630 (GRCm39) |
E341V |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,028,385 (GRCm39) |
Y2351N |
probably damaging |
Het |
| Ccdc136 |
T |
A |
6: 29,417,225 (GRCm39) |
V682E |
probably benign |
Het |
| Ccdc142 |
T |
C |
6: 83,080,238 (GRCm39) |
C394R |
probably benign |
Het |
| Cfap58 |
A |
G |
19: 48,023,122 (GRCm39) |
N845D |
probably benign |
Het |
| Col4a3 |
G |
A |
1: 82,660,024 (GRCm39) |
G890R |
unknown |
Het |
| Cyp1a2 |
C |
A |
9: 57,589,242 (GRCm39) |
V191L |
probably benign |
Het |
| Cyp51 |
A |
T |
5: 4,149,122 (GRCm39) |
|
probably null |
Het |
| Diras2 |
T |
C |
13: 52,661,783 (GRCm39) |
S175G |
possibly damaging |
Het |
| Dnah6 |
A |
G |
6: 73,091,565 (GRCm39) |
F2242S |
probably damaging |
Het |
| Erg |
T |
A |
16: 95,210,619 (GRCm39) |
N78Y |
probably benign |
Het |
| Fdft1 |
T |
A |
14: 63,402,032 (GRCm39) |
Q49L |
probably benign |
Het |
| Frem1 |
G |
T |
4: 82,818,663 (GRCm39) |
H2183Q |
probably damaging |
Het |
| Fut2 |
G |
A |
7: 45,299,890 (GRCm39) |
T294I |
probably damaging |
Het |
| Gabrb1 |
A |
C |
5: 71,858,160 (GRCm39) |
D62A |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,238,004 (GRCm39) |
Y263* |
probably null |
Het |
| Gimap6 |
T |
C |
6: 48,679,502 (GRCm39) |
D178G |
probably benign |
Het |
| Gss |
T |
A |
2: 155,420,261 (GRCm39) |
T147S |
probably damaging |
Het |
| Hlcs |
A |
T |
16: 94,068,275 (GRCm39) |
V315E |
probably benign |
Het |
| Hoxa3 |
C |
T |
6: 52,147,164 (GRCm39) |
G363E |
unknown |
Het |
| Ift140 |
A |
G |
17: 25,305,834 (GRCm39) |
N807S |
probably damaging |
Het |
| Iglc1 |
T |
G |
16: 18,880,701 (GRCm39) |
D40A |
|
Het |
| Itga10 |
T |
A |
3: 96,569,948 (GRCm39) |
I1120N |
probably damaging |
Het |
| Kank2 |
T |
G |
9: 21,706,179 (GRCm39) |
I280L |
probably benign |
Het |
| Kcnk1 |
G |
T |
8: 126,752,081 (GRCm39) |
G229V |
probably damaging |
Het |
| Kpna7 |
T |
C |
5: 144,941,862 (GRCm39) |
T143A |
probably benign |
Het |
| Letmd1 |
C |
T |
15: 100,374,683 (GRCm39) |
R310C |
probably damaging |
Het |
| Mga |
G |
A |
2: 119,746,985 (GRCm39) |
V379I |
probably damaging |
Het |
| Mto1 |
T |
A |
9: 78,364,699 (GRCm39) |
Y313N |
probably damaging |
Het |
| Muc5ac |
G |
A |
7: 141,361,153 (GRCm39) |
C1488Y |
probably damaging |
Het |
| Nde1 |
T |
A |
16: 13,988,357 (GRCm39) |
|
probably null |
Het |
| Nfatc3 |
T |
C |
8: 106,805,835 (GRCm39) |
S235P |
possibly damaging |
Het |
| Nup88 |
T |
C |
11: 70,835,547 (GRCm39) |
D602G |
probably benign |
Het |
| Or11g25 |
T |
A |
14: 50,723,536 (GRCm39) |
M207K |
probably benign |
Het |
| Or2h1b |
A |
C |
17: 37,462,270 (GRCm39) |
S198A |
probably benign |
Het |
| Pcnx1 |
G |
A |
12: 82,038,561 (GRCm39) |
C1309Y |
|
Het |
| Phldb1 |
A |
G |
9: 44,627,257 (GRCm39) |
I396T |
probably benign |
Het |
| Pramel38 |
T |
C |
5: 94,368,831 (GRCm39) |
M442T |
probably benign |
Het |
| Pramel41 |
A |
C |
5: 94,594,694 (GRCm39) |
K185Q |
probably benign |
Het |
| Prss53 |
G |
A |
7: 127,487,963 (GRCm39) |
T173I |
probably benign |
Het |
| Ptpn11 |
C |
A |
5: 121,302,617 (GRCm39) |
D156Y |
probably damaging |
Het |
| Rfx8 |
A |
G |
1: 39,729,265 (GRCm39) |
Y167H |
probably benign |
Het |
| Rpsa |
T |
A |
9: 119,960,214 (GRCm39) |
I259N |
probably benign |
Het |
| Rrm2b |
G |
T |
15: 37,947,048 (GRCm39) |
D84E |
probably benign |
Het |
| Scgb2b19 |
A |
T |
7: 32,979,036 (GRCm39) |
|
probably null |
Het |
| Sik3 |
T |
C |
9: 46,120,029 (GRCm39) |
L706P |
probably damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,281,112 (GRCm39) |
E426D |
probably damaging |
Het |
| Slc8a2 |
C |
A |
7: 15,874,504 (GRCm39) |
L251I |
possibly damaging |
Het |
| Taf6 |
T |
C |
5: 138,180,504 (GRCm39) |
K287E |
probably benign |
Het |
| Tiam1 |
G |
A |
16: 89,657,130 (GRCm39) |
T702I |
probably damaging |
Het |
| Tle1 |
A |
T |
4: 72,117,556 (GRCm39) |
F35I |
possibly damaging |
Het |
| Tle2 |
A |
G |
10: 81,422,964 (GRCm39) |
Q454R |
possibly damaging |
Het |
| Tsc2 |
T |
C |
17: 24,840,121 (GRCm39) |
N425S |
probably benign |
Het |
| Utp3 |
A |
G |
5: 88,702,564 (GRCm39) |
D31G |
probably benign |
Het |
| Vmn1r173 |
A |
T |
7: 23,401,911 (GRCm39) |
R49* |
probably null |
Het |
| Ybx2 |
T |
A |
11: 69,831,224 (GRCm39) |
V273E |
probably benign |
Het |
| Zbtb22 |
G |
A |
17: 34,137,672 (GRCm39) |
A606T |
probably benign |
Het |
| Zcchc8 |
A |
T |
5: 123,838,995 (GRCm39) |
D514E |
probably benign |
Het |
| Zfy2 |
T |
A |
Y: 2,117,096 (GRCm39) |
I244F |
probably benign |
Het |
| Zglp1 |
T |
C |
9: 20,977,485 (GRCm39) |
N110S |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCCAACTTGTGCAGCCAC -3'
(R):5'- ACGGGCTTCTTTACTAACCG -3'
Sequencing Primer
(F):5'- AGCCACCCTCTCCGTCAG -3'
(R):5'- TCCAGGAGATGCCGTTGTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation