Incidental Mutation 'R5959:Jak3'
ID |
471354 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Jak3
|
Ensembl Gene |
ENSMUSG00000031805 |
Gene Name |
Janus kinase 3 |
Synonyms |
|
MMRRC Submission |
044146-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.664)
|
Stock # |
R5959 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
72129027-72143221 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72134715 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 481
(N481D)
|
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: N481D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000060073 Gene: ENSMUSG00000031805 AA Change: N481D
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: N481D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105639 Gene: ENSMUSG00000031805 AA Change: N481D
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: N481D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105640 Gene: ENSMUSG00000031805 AA Change: N481D
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133263
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.6%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
A |
T |
11: 84,106,792 (GRCm39) |
N164Y |
probably damaging |
Het |
Acp6 |
A |
G |
3: 97,073,888 (GRCm39) |
E164G |
probably damaging |
Het |
Adcy5 |
A |
T |
16: 35,118,780 (GRCm39) |
I1044F |
probably damaging |
Het |
Ahcyl2 |
A |
G |
6: 29,886,173 (GRCm39) |
D363G |
probably damaging |
Het |
Ankrd28 |
T |
C |
14: 31,451,879 (GRCm39) |
T273A |
probably benign |
Het |
Cc2d1a |
A |
T |
8: 84,860,132 (GRCm39) |
Y862* |
probably null |
Het |
Cfap221 |
T |
A |
1: 119,860,511 (GRCm39) |
H705L |
probably damaging |
Het |
Cfap61 |
C |
T |
2: 145,789,053 (GRCm39) |
T19M |
probably benign |
Het |
Chga |
T |
C |
12: 102,528,114 (GRCm39) |
S202P |
probably benign |
Het |
Cnmd |
T |
C |
14: 79,894,109 (GRCm39) |
I93V |
probably damaging |
Het |
Cpne1 |
G |
A |
2: 155,920,143 (GRCm39) |
S188L |
probably benign |
Het |
Dchs2 |
G |
A |
3: 83,232,725 (GRCm39) |
V2237I |
probably benign |
Het |
Dguok |
C |
T |
6: 83,467,574 (GRCm39) |
R91H |
probably benign |
Het |
Eed |
A |
G |
7: 89,618,835 (GRCm39) |
I193T |
probably damaging |
Het |
Fasn |
C |
T |
11: 120,699,390 (GRCm39) |
E2353K |
probably damaging |
Het |
Fpr-rs7 |
G |
A |
17: 20,334,011 (GRCm39) |
H160Y |
probably benign |
Het |
Gramd4 |
T |
A |
15: 86,011,758 (GRCm39) |
M272K |
probably damaging |
Het |
Hfm1 |
A |
G |
5: 107,022,783 (GRCm39) |
S940P |
probably damaging |
Het |
Ifnlr1 |
T |
A |
4: 135,432,652 (GRCm39) |
S363T |
possibly damaging |
Het |
Kcnj3 |
A |
G |
2: 55,327,330 (GRCm39) |
K40E |
probably benign |
Het |
Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
Lpcat4 |
T |
A |
2: 112,070,380 (GRCm39) |
L31H |
possibly damaging |
Het |
Myo1c |
A |
G |
11: 75,548,345 (GRCm39) |
T38A |
probably benign |
Het |
Myt1l |
T |
C |
12: 29,970,039 (GRCm39) |
|
probably null |
Het |
Nbas |
T |
C |
12: 13,338,802 (GRCm39) |
V214A |
probably damaging |
Het |
Neb |
C |
A |
2: 52,046,389 (GRCm39) |
R6537L |
probably benign |
Het |
Nwd2 |
T |
A |
5: 63,965,413 (GRCm39) |
F1666I |
probably benign |
Het |
Or52z1 |
T |
A |
7: 103,436,723 (GRCm39) |
I254F |
probably damaging |
Het |
Or8b1 |
A |
G |
9: 38,400,207 (GRCm39) |
N294S |
probably damaging |
Het |
Prmt8 |
C |
A |
6: 127,706,381 (GRCm39) |
V137L |
probably damaging |
Het |
Ptpn21 |
A |
T |
12: 98,675,148 (GRCm39) |
|
probably null |
Het |
Rab15 |
A |
G |
12: 76,869,043 (GRCm39) |
S17P |
probably damaging |
Het |
Rbm5 |
T |
G |
9: 107,629,339 (GRCm39) |
I338L |
probably benign |
Het |
Rragc |
G |
A |
4: 123,817,767 (GRCm39) |
S218N |
probably damaging |
Het |
Sacs |
T |
C |
14: 61,449,849 (GRCm39) |
M3965T |
probably damaging |
Het |
Sgo2b |
T |
A |
8: 64,380,322 (GRCm39) |
I837F |
probably benign |
Het |
Sorcs3 |
T |
G |
19: 48,737,835 (GRCm39) |
C751G |
probably damaging |
Het |
Sowahc |
A |
G |
10: 59,058,920 (GRCm39) |
D352G |
probably benign |
Het |
Sox15 |
C |
T |
11: 69,546,556 (GRCm39) |
R120C |
probably damaging |
Het |
Spata31f1e |
T |
A |
4: 42,793,492 (GRCm39) |
K213N |
probably damaging |
Het |
Srr |
A |
G |
11: 74,801,891 (GRCm39) |
V126A |
possibly damaging |
Het |
Tenm3 |
T |
A |
8: 49,099,482 (GRCm39) |
R108* |
probably null |
Het |
Traf3ip2 |
A |
T |
10: 39,517,337 (GRCm39) |
M403L |
probably benign |
Het |
Trappc11 |
T |
C |
8: 47,954,593 (GRCm39) |
D949G |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,544,960 (GRCm39) |
I32714T |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,693,849 (GRCm39) |
T218S |
possibly damaging |
Het |
Uaca |
A |
T |
9: 60,778,052 (GRCm39) |
H811L |
probably damaging |
Het |
Ugt2b1 |
T |
C |
5: 87,073,813 (GRCm39) |
E182G |
probably benign |
Het |
Vmn1r49 |
T |
C |
6: 90,049,786 (GRCm39) |
D72G |
probably damaging |
Het |
Vmn2r80 |
A |
T |
10: 79,005,313 (GRCm39) |
M317L |
probably benign |
Het |
Vwa2 |
T |
C |
19: 56,869,604 (GRCm39) |
L13P |
possibly damaging |
Het |
Zc3hav1 |
G |
A |
6: 38,284,379 (GRCm39) |
T912I |
probably benign |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
Zfp948 |
A |
G |
17: 21,807,776 (GRCm39) |
K323E |
probably benign |
Het |
Zfyve27 |
T |
G |
19: 42,167,887 (GRCm39) |
V143G |
unknown |
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 |
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'- CCCATGGGTGAATGCCACTAAG -3'
(R):5'- TTCCACGTCCTCCCAAAAGG -3'
Sequencing Primer
(F):5'- TGGTGTCCTGGCTAACAAAGACC -3'
(R):5'- TCCTCCCAAAAGGGCCCG -3'
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Posted On |
2017-03-31 |