Incidental Mutation 'R4231:Jak3'
ID |
320850 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Jak3
|
Ensembl Gene |
ENSMUSG00000031805 |
Gene Name |
Janus kinase 3 |
Synonyms |
|
MMRRC Submission |
041050-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.702)
|
Stock # |
R4231 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
72129027-72143221 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 72138189 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 880
(V880D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105640
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034261]
[ENSMUST00000051995]
[ENSMUST00000110012]
[ENSMUST00000110013]
|
AlphaFold |
no structure available at present |
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 damaging
Transcript: ENSMUST00000051995
AA Change: V880D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000060073 Gene: ENSMUSG00000031805 AA Change: V880D
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: V880D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105639 Gene: ENSMUSG00000031805 AA Change: V880D
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: V880D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105640 Gene: ENSMUSG00000031805 AA Change: V880D
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 |
0.9728 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
99% (75/76) |
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 |
4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
Akap6 |
A |
T |
12: 53,187,821 (GRCm39) |
D1745V |
probably damaging |
Het |
Aldh5a1 |
C |
T |
13: 25,095,636 (GRCm39) |
G494R |
probably damaging |
Het |
Ankar |
T |
C |
1: 72,697,701 (GRCm39) |
D1034G |
probably benign |
Het |
Aox3 |
T |
A |
1: 58,154,044 (GRCm39) |
N23K |
probably benign |
Het |
Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
Bltp1 |
C |
T |
3: 36,974,385 (GRCm39) |
T663I |
probably benign |
Het |
Cacnb2 |
A |
G |
2: 14,986,251 (GRCm39) |
K343E |
probably damaging |
Het |
Casp8 |
T |
C |
1: 58,883,929 (GRCm39) |
V432A |
probably damaging |
Het |
Cd93 |
A |
T |
2: 148,284,880 (GRCm39) |
H155Q |
probably benign |
Het |
Cox6b2 |
T |
C |
7: 4,755,834 (GRCm39) |
M1V |
probably null |
Het |
Crat |
T |
C |
2: 30,303,023 (GRCm39) |
E88G |
possibly damaging |
Het |
Ddx1 |
C |
T |
12: 13,273,858 (GRCm39) |
V590I |
possibly damaging |
Het |
Dip2a |
G |
A |
10: 76,155,304 (GRCm39) |
P94S |
probably damaging |
Het |
Dtx3 |
A |
G |
10: 127,029,058 (GRCm39) |
I60T |
possibly damaging |
Het |
Filip1l |
T |
C |
16: 57,327,131 (GRCm39) |
S54P |
probably benign |
Het |
Gm12887 |
A |
T |
4: 121,479,299 (GRCm39) |
M1K |
probably null |
Het |
Gm26678 |
T |
C |
3: 54,540,504 (GRCm39) |
|
noncoding transcript |
Het |
Impg1 |
A |
G |
9: 80,252,611 (GRCm39) |
L523P |
probably damaging |
Het |
Insyn2b |
A |
T |
11: 34,353,143 (GRCm39) |
E395V |
probably benign |
Het |
Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
Irak2 |
A |
G |
6: 113,667,817 (GRCm39) |
E466G |
probably damaging |
Het |
Irgm2 |
C |
T |
11: 58,110,304 (GRCm39) |
|
probably benign |
Het |
Jmy |
G |
T |
13: 93,635,433 (GRCm39) |
P128T |
probably benign |
Het |
Kif20a |
A |
G |
18: 34,765,091 (GRCm39) |
N775S |
probably benign |
Het |
Kremen1 |
G |
A |
11: 5,193,881 (GRCm39) |
Q50* |
probably null |
Het |
Lrrc71 |
A |
G |
3: 87,648,298 (GRCm39) |
I438T |
probably benign |
Het |
Map3k1 |
T |
C |
13: 111,905,028 (GRCm39) |
T374A |
probably benign |
Het |
Med12l |
T |
G |
3: 59,164,644 (GRCm39) |
|
probably null |
Het |
Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
Mta1 |
T |
C |
12: 113,099,447 (GRCm39) |
M603T |
possibly damaging |
Het |
Myo5a |
A |
G |
9: 75,097,279 (GRCm39) |
N1319S |
possibly damaging |
Het |
Nalcn |
T |
A |
14: 123,837,325 (GRCm39) |
Q13L |
probably benign |
Het |
Nbas |
A |
G |
12: 13,443,344 (GRCm39) |
N1133S |
probably damaging |
Het |
Nsun2 |
A |
G |
13: 69,767,660 (GRCm39) |
N205D |
probably damaging |
Het |
Nxpe4 |
A |
T |
9: 48,310,137 (GRCm39) |
T467S |
probably damaging |
Het |
Or13a20 |
T |
C |
7: 140,232,653 (GRCm39) |
Y254H |
probably damaging |
Het |
Or4f17-ps1 |
C |
T |
2: 111,358,546 (GRCm39) |
R314C |
probably damaging |
Het |
Or7g30 |
T |
A |
9: 19,352,886 (GRCm39) |
L226I |
probably damaging |
Het |
Pam |
A |
G |
1: 97,811,849 (GRCm39) |
|
probably null |
Het |
Pcdh7 |
G |
A |
5: 57,876,631 (GRCm39) |
G62D |
possibly damaging |
Het |
Plxna2 |
C |
T |
1: 194,326,762 (GRCm39) |
T232I |
probably damaging |
Het |
Prkar1b |
A |
G |
5: 139,094,376 (GRCm39) |
S71P |
probably benign |
Het |
Ptprq |
A |
T |
10: 107,522,144 (GRCm39) |
Y602* |
probably null |
Het |
Rfx4 |
A |
T |
10: 84,650,558 (GRCm39) |
M84L |
probably benign |
Het |
Rfx7 |
A |
T |
9: 72,526,672 (GRCm39) |
E1287D |
possibly damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rnf216 |
A |
T |
5: 143,078,845 (GRCm39) |
S35T |
probably damaging |
Het |
Rps6kc1 |
A |
G |
1: 190,541,097 (GRCm39) |
V402A |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sart3 |
A |
G |
5: 113,909,479 (GRCm39) |
M73T |
probably benign |
Het |
Scn10a |
G |
T |
9: 119,460,610 (GRCm39) |
T1088K |
probably damaging |
Het |
Senp2 |
T |
C |
16: 21,830,304 (GRCm39) |
|
probably null |
Het |
Setd7 |
T |
C |
3: 51,450,151 (GRCm39) |
N92D |
probably benign |
Het |
Sipa1 |
A |
T |
19: 5,704,117 (GRCm39) |
L735Q |
probably damaging |
Het |
Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
Slitrk6 |
A |
T |
14: 110,988,820 (GRCm39) |
S296T |
probably benign |
Het |
Spc24 |
T |
C |
9: 21,667,498 (GRCm39) |
|
probably null |
Het |
Tex15 |
T |
C |
8: 34,062,165 (GRCm39) |
S806P |
probably damaging |
Het |
Tgm3 |
A |
T |
2: 129,886,509 (GRCm39) |
K577* |
probably null |
Het |
Wscd2 |
A |
G |
5: 113,699,045 (GRCm39) |
D200G |
probably benign |
Het |
Xpo6 |
T |
C |
7: 125,773,354 (GRCm39) |
T24A |
possibly damaging |
Het |
Zfhx2 |
A |
G |
14: 55,310,991 (GRCm39) |
C568R |
possibly damaging |
Het |
Zfp599 |
T |
A |
9: 22,161,041 (GRCm39) |
K375* |
probably null |
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 |
|
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'- TTAAGTACATCTCTTTGCTGGGC -3'
(R):5'- ACCTTCTACTGGGTGTATTGATTC -3'
Sequencing Primer
(F):5'- GGTGGACACTGCCCTCTCATC -3'
(R):5'- TTCGTTCAACCTCCAGCTATAGAAG -3'
|
Posted On |
2015-06-12 |