Incidental Mutation 'R0744:Jak3'
| ID |
70859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jak3
|
| Ensembl Gene |
ENSMUSG00000031805 |
| Gene Name |
Janus kinase 3 |
| Synonyms |
|
| MMRRC Submission |
038925-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.664)
|
| Stock # |
R0744 (G1)
|
| Quality Score |
184 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
72129027-72143221 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 72136622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 643
(N643T)
|
| 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: N643T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
AA Change: N643T
| 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: N643T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
AA Change: N643T
| 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: N643T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
AA Change: N643T
| 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
|
| Meta Mutation Damage Score |
0.7065 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
98% (91/93) |
| 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: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,000,931 (GRCm39) |
L41P |
probably damaging |
Het |
| A930003A15Rik |
T |
C |
16: 19,702,622 (GRCm39) |
|
noncoding transcript |
Het |
| Abca8a |
A |
T |
11: 109,931,390 (GRCm39) |
D1253E |
possibly damaging |
Het |
| Acsm3 |
T |
C |
7: 119,376,323 (GRCm39) |
I350T |
possibly damaging |
Het |
| Adcy9 |
T |
C |
16: 4,237,135 (GRCm39) |
D92G |
possibly damaging |
Het |
| Aebp2 |
T |
G |
6: 140,588,090 (GRCm39) |
|
probably null |
Het |
| AI987944 |
T |
C |
7: 41,026,283 (GRCm39) |
Y6C |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,721,762 (GRCm39) |
W2072R |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,649,097 (GRCm39) |
D362G |
probably damaging |
Het |
| Baiap2l1 |
T |
A |
5: 144,203,451 (GRCm39) |
D479V |
probably benign |
Het |
| Bdp1 |
A |
T |
13: 100,172,333 (GRCm39) |
H2094Q |
probably benign |
Het |
| Bptf |
C |
A |
11: 107,001,638 (GRCm39) |
|
probably null |
Het |
| Camk4 |
G |
T |
18: 33,072,507 (GRCm39) |
S20I |
unknown |
Het |
| Ccdc85a |
T |
A |
11: 28,533,296 (GRCm39) |
I83F |
probably damaging |
Het |
| Ccnt2 |
T |
A |
1: 127,730,131 (GRCm39) |
M336K |
probably benign |
Het |
| Cd209e |
G |
T |
8: 3,903,205 (GRCm39) |
D62E |
probably benign |
Het |
| Cd226 |
A |
C |
18: 89,225,144 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,768,784 (GRCm39) |
D605G |
probably benign |
Het |
| Crtc1 |
A |
G |
8: 70,845,663 (GRCm39) |
V306A |
probably benign |
Het |
| D130043K22Rik |
G |
A |
13: 25,047,563 (GRCm39) |
|
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 49,966,215 (GRCm39) |
V20A |
probably damaging |
Het |
| Dzip3 |
A |
G |
16: 48,780,038 (GRCm39) |
Y301H |
probably damaging |
Het |
| Ephb4 |
T |
A |
5: 137,363,929 (GRCm39) |
N600K |
probably damaging |
Het |
| Erich6 |
T |
A |
3: 58,543,543 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,156,734 (GRCm39) |
|
probably benign |
Het |
| Fryl |
A |
T |
5: 73,246,424 (GRCm39) |
|
probably benign |
Het |
| Galnt17 |
T |
A |
5: 131,179,754 (GRCm39) |
D131V |
probably damaging |
Het |
| Gm6619 |
T |
A |
6: 131,467,297 (GRCm39) |
L54Q |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,855,784 (GRCm39) |
|
probably benign |
Het |
| Hic1 |
T |
A |
11: 75,056,627 (GRCm39) |
Q754L |
possibly damaging |
Het |
| Hnf4g |
A |
T |
3: 3,716,689 (GRCm39) |
D286V |
possibly damaging |
Het |
| Iho1 |
A |
T |
9: 108,282,000 (GRCm39) |
C563S |
probably benign |
Het |
| Itgb5 |
A |
G |
16: 33,720,953 (GRCm39) |
K339R |
probably damaging |
Het |
| Itih1 |
A |
T |
14: 30,663,512 (GRCm39) |
V164E |
probably damaging |
Het |
| Lamp1 |
T |
A |
8: 13,222,654 (GRCm39) |
F279L |
probably damaging |
Het |
| Lrfn5 |
A |
C |
12: 61,886,454 (GRCm39) |
T81P |
probably damaging |
Het |
| Lrrc58 |
A |
G |
16: 37,698,935 (GRCm39) |
|
probably benign |
Het |
| Marchf6 |
T |
C |
15: 31,480,437 (GRCm39) |
Y562C |
probably benign |
Het |
| Mark1 |
T |
A |
1: 184,653,805 (GRCm39) |
I166F |
probably damaging |
Het |
| Mark2 |
A |
G |
19: 7,263,189 (GRCm39) |
Y193H |
probably damaging |
Het |
| Mast4 |
C |
G |
13: 102,873,895 (GRCm39) |
Q1632H |
probably damaging |
Het |
| Mcrs1 |
T |
C |
15: 99,141,330 (GRCm39) |
|
probably benign |
Het |
| Mgst3 |
A |
G |
1: 167,201,374 (GRCm39) |
Y104H |
probably damaging |
Het |
| Mlxipl |
C |
T |
5: 135,161,329 (GRCm39) |
T416I |
possibly damaging |
Het |
| Mthfd2l |
T |
C |
5: 91,094,801 (GRCm39) |
V90A |
probably damaging |
Het |
| Mtnr1a |
A |
T |
8: 45,540,974 (GRCm39) |
I312F |
probably benign |
Het |
| Muc1 |
C |
A |
3: 89,137,635 (GRCm39) |
P159Q |
possibly damaging |
Het |
| Myom2 |
A |
T |
8: 15,182,924 (GRCm39) |
K1454* |
probably null |
Het |
| Myt1 |
TGAGGAGGAGGAGGAGGAGG |
TGAGGAGGAGGAGGAGG |
2: 181,439,298 (GRCm39) |
|
probably benign |
Het |
| Or10g3b |
T |
C |
14: 52,586,835 (GRCm39) |
I223V |
probably benign |
Het |
| Or2t29 |
T |
A |
11: 58,433,988 (GRCm39) |
M105L |
possibly damaging |
Het |
| Or52ae9 |
T |
C |
7: 103,390,132 (GRCm39) |
H105R |
probably damaging |
Het |
| Or56b1b |
T |
C |
7: 108,164,205 (GRCm39) |
T266A |
possibly damaging |
Het |
| Or8b1c |
A |
T |
9: 38,384,081 (GRCm39) |
I13F |
probably benign |
Het |
| Pdcd6 |
A |
G |
13: 74,464,443 (GRCm39) |
|
probably benign |
Het |
| Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
| Pramel23 |
A |
T |
4: 143,425,056 (GRCm39) |
M129K |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,493,158 (GRCm39) |
|
probably benign |
Het |
| Rab27b |
T |
C |
18: 70,120,112 (GRCm39) |
|
probably benign |
Het |
| Rapgef3 |
G |
A |
15: 97,659,466 (GRCm39) |
|
probably benign |
Het |
| Rapsn |
T |
C |
2: 90,867,153 (GRCm39) |
Y152H |
probably damaging |
Het |
| Rgs11 |
T |
A |
17: 26,422,292 (GRCm39) |
M29K |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,793,759 (GRCm39) |
|
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,497,709 (GRCm39) |
|
probably null |
Het |
| Samd9l |
T |
C |
6: 3,372,725 (GRCm39) |
E1512G |
possibly damaging |
Het |
| Sgsm1 |
C |
T |
5: 113,427,050 (GRCm39) |
A127T |
probably benign |
Het |
| Slc22a28 |
T |
C |
19: 8,094,197 (GRCm39) |
Y245C |
possibly damaging |
Het |
| Slc25a1 |
T |
A |
16: 17,745,300 (GRCm39) |
H78L |
probably benign |
Het |
| Slc26a1 |
T |
A |
5: 108,821,389 (GRCm39) |
T167S |
probably benign |
Het |
| Slc2a12 |
T |
C |
10: 22,577,915 (GRCm39) |
|
probably benign |
Het |
| Slc44a5 |
T |
C |
3: 153,971,111 (GRCm39) |
S654P |
probably damaging |
Het |
| Slc51a |
T |
A |
16: 32,294,667 (GRCm39) |
T306S |
probably benign |
Het |
| Slc6a13 |
T |
G |
6: 121,279,826 (GRCm39) |
W67G |
probably damaging |
Het |
| Sowahc |
GGGAGGAGGAGGAGGAGGAGGAGGAGGA |
GGGAGGAGGAGGAGGAGGAGGAGGA |
10: 59,059,313 (GRCm39) |
|
probably benign |
Het |
| Sp100 |
A |
T |
1: 85,627,465 (GRCm39) |
I86L |
probably damaging |
Het |
| Spata31e5 |
A |
G |
1: 28,816,902 (GRCm39) |
S377P |
possibly damaging |
Het |
| Supt20 |
T |
A |
3: 54,622,122 (GRCm39) |
Y409N |
probably damaging |
Het |
| Synrg |
C |
T |
11: 83,915,131 (GRCm39) |
Q1046* |
probably null |
Het |
| Tab2 |
T |
C |
10: 7,783,345 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,978,904 (GRCm39) |
D48G |
probably damaging |
Het |
| Tex24 |
A |
T |
8: 27,834,748 (GRCm39) |
H92L |
possibly damaging |
Het |
| Tgm6 |
T |
C |
2: 129,993,681 (GRCm39) |
V640A |
probably benign |
Het |
| Tle2 |
T |
C |
10: 81,424,781 (GRCm39) |
F667L |
probably damaging |
Het |
| Tnfaip3 |
C |
A |
10: 18,878,697 (GRCm39) |
A704S |
probably benign |
Het |
| Tomm34 |
T |
C |
2: 163,912,896 (GRCm39) |
N22D |
probably benign |
Het |
| Trabd2b |
A |
G |
4: 114,437,519 (GRCm39) |
Q232R |
probably benign |
Het |
| Trim62 |
A |
G |
4: 128,778,008 (GRCm39) |
S16G |
probably damaging |
Het |
| Ttc28 |
T |
A |
5: 111,378,947 (GRCm39) |
I1144N |
probably damaging |
Het |
| Unc5a |
C |
A |
13: 55,151,746 (GRCm39) |
N56K |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,546,603 (GRCm39) |
|
probably benign |
Het |
| Wrn |
A |
G |
8: 33,785,034 (GRCm39) |
I446T |
possibly damaging |
Het |
| Zbed5 |
T |
A |
5: 129,931,113 (GRCm39) |
V354E |
possibly damaging |
Het |
| Zfp266 |
G |
A |
9: 20,411,095 (GRCm39) |
H361Y |
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 |
|
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'- CAAGACATGACTTCACGGGCCTAC -3'
(R):5'- TTCTGTCGGTGAGCACTGGAGAAC -3'
Sequencing Primer
(F):5'- CTACAGTGGTTGCCAAAGC -3'
(R):5'- TGAGAACTGTCATGGTCACC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation