Incidental Mutation 'R0833:Jak3'
| ID |
77644 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jak3
|
| Ensembl Gene |
ENSMUSG00000031805 |
| Gene Name |
Janus kinase 3 |
| Synonyms |
|
| MMRRC Submission |
039012-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.702)
|
| Stock # |
R0833 (G1)
|
| Quality Score |
225 |
|
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: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.6%
|
| Validation Efficiency |
100% (97/97) |
| 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: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,000,931 (GRCm39) |
L41P |
probably damaging |
Het |
| 3110082I17Rik |
A |
G |
5: 139,349,875 (GRCm39) |
V58A |
possibly damaging |
Het |
| 4932415M13Rik |
A |
T |
17: 54,031,374 (GRCm39) |
|
noncoding transcript |
Het |
| Aldh1a7 |
C |
T |
19: 20,679,607 (GRCm39) |
V390M |
probably damaging |
Het |
| Alg14 |
A |
G |
3: 121,092,259 (GRCm39) |
H34R |
probably damaging |
Het |
| Ankrd27 |
A |
G |
7: 35,307,772 (GRCm39) |
N337S |
probably damaging |
Het |
| Apoa2 |
T |
A |
1: 171,052,948 (GRCm39) |
|
probably benign |
Het |
| Arl2 |
T |
G |
19: 6,186,052 (GRCm39) |
K126T |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,721,762 (GRCm39) |
W2072R |
probably benign |
Het |
| Astl |
T |
C |
2: 127,184,339 (GRCm39) |
F21L |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,649,097 (GRCm39) |
D362G |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,172,333 (GRCm39) |
H2094Q |
probably benign |
Het |
| Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
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 |
| Cd226 |
A |
C |
18: 89,225,144 (GRCm39) |
|
probably benign |
Het |
| Ceacam23 |
C |
A |
7: 17,638,906 (GRCm39) |
A301E |
possibly damaging |
Het |
| Ces1f |
A |
T |
8: 93,996,652 (GRCm39) |
S214T |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,768,784 (GRCm39) |
D605G |
probably benign |
Het |
| Col26a1 |
A |
G |
5: 136,794,154 (GRCm39) |
|
probably null |
Het |
| Crtc1 |
A |
G |
8: 70,845,663 (GRCm39) |
V306A |
probably benign |
Het |
| D130043K22Rik |
G |
A |
13: 25,047,563 (GRCm39) |
|
probably benign |
Het |
| D17H6S53E |
A |
T |
17: 35,346,385 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
G |
A |
12: 118,160,397 (GRCm39) |
A111V |
probably benign |
Het |
| Dyrk2 |
T |
C |
10: 118,697,027 (GRCm39) |
H77R |
probably benign |
Het |
| Epha3 |
A |
G |
16: 63,423,882 (GRCm39) |
|
probably benign |
Het |
| Epn2 |
T |
C |
11: 61,410,317 (GRCm39) |
N611S |
probably benign |
Het |
| Erich6 |
A |
C |
3: 58,526,365 (GRCm39) |
|
probably benign |
Het |
| Fam217b |
T |
C |
2: 178,062,782 (GRCm39) |
S249P |
probably benign |
Het |
| Fam219b |
A |
G |
9: 57,445,299 (GRCm39) |
|
probably benign |
Het |
| Fryl |
A |
T |
5: 73,246,424 (GRCm39) |
|
probably benign |
Het |
| Ftdc2 |
G |
A |
16: 58,455,886 (GRCm39) |
S129L |
probably damaging |
Het |
| Gm14496 |
T |
C |
2: 181,638,059 (GRCm39) |
W378R |
probably damaging |
Het |
| Gm57858 |
A |
G |
3: 36,074,362 (GRCm39) |
|
probably benign |
Het |
| Gm8674 |
A |
T |
13: 50,058,611 (GRCm39) |
|
noncoding transcript |
Het |
| Grap |
T |
A |
11: 61,551,065 (GRCm39) |
D32E |
possibly damaging |
Het |
| Grk2 |
C |
A |
19: 4,339,385 (GRCm39) |
L428F |
probably damaging |
Het |
| Grm8 |
T |
A |
6: 27,363,178 (GRCm39) |
E779V |
probably damaging |
Het |
| Hipk1 |
A |
G |
3: 103,661,612 (GRCm39) |
S670P |
probably damaging |
Het |
| Ilrun |
A |
T |
17: 28,005,112 (GRCm39) |
S148R |
probably damaging |
Het |
| Itgae |
A |
T |
11: 73,020,032 (GRCm39) |
M845L |
probably benign |
Het |
| Itih1 |
A |
T |
14: 30,663,512 (GRCm39) |
V164E |
probably damaging |
Het |
| Itpka |
T |
A |
2: 119,581,312 (GRCm39) |
N448K |
probably damaging |
Het |
| Lrfn5 |
A |
C |
12: 61,886,454 (GRCm39) |
T81P |
probably damaging |
Het |
| Lrrc45 |
T |
A |
11: 120,609,019 (GRCm39) |
|
probably null |
Het |
| Marchf6 |
T |
C |
15: 31,480,437 (GRCm39) |
Y562C |
probably benign |
Het |
| Mcrs1 |
T |
C |
15: 99,141,330 (GRCm39) |
|
probably benign |
Het |
| Meis1 |
G |
A |
11: 18,831,767 (GRCm39) |
H424Y |
possibly damaging |
Het |
| Mst1r |
A |
G |
9: 107,791,975 (GRCm39) |
N837S |
probably benign |
Het |
| Mst1r |
G |
A |
9: 107,790,366 (GRCm39) |
V660I |
probably benign |
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 |
| Or10g3b |
T |
C |
14: 52,586,835 (GRCm39) |
I223V |
probably benign |
Het |
| Or51g1 |
C |
A |
7: 102,634,043 (GRCm39) |
L109F |
possibly damaging |
Het |
| Or8b12b |
T |
C |
9: 37,684,372 (GRCm39) |
V139A |
probably benign |
Het |
| Otog |
C |
T |
7: 45,918,786 (GRCm39) |
T954I |
possibly damaging |
Het |
| Pdcd6 |
A |
G |
13: 74,464,443 (GRCm39) |
|
probably benign |
Het |
| Phlpp2 |
A |
G |
8: 110,663,738 (GRCm39) |
T926A |
probably damaging |
Het |
| Plec |
GGCAGCAG |
GGCAGCAGCAG |
15: 76,066,107 (GRCm39) |
|
probably benign |
Het |
| Plekha5 |
T |
A |
6: 140,535,360 (GRCm39) |
|
probably benign |
Het |
| Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
| Pramel18 |
G |
A |
4: 101,767,294 (GRCm39) |
C181Y |
probably damaging |
Het |
| Pramel23 |
A |
T |
4: 143,425,056 (GRCm39) |
M129K |
probably benign |
Het |
| Rab27b |
T |
C |
18: 70,120,112 (GRCm39) |
|
probably benign |
Het |
| Rapsn |
T |
C |
2: 90,867,153 (GRCm39) |
Y152H |
probably damaging |
Het |
| Rasd1 |
A |
T |
11: 59,855,379 (GRCm39) |
F85I |
probably damaging |
Het |
| Rgs1 |
A |
T |
1: 144,123,671 (GRCm39) |
S85T |
probably damaging |
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 |
| Shc1 |
A |
G |
3: 89,330,276 (GRCm39) |
D70G |
probably damaging |
Het |
| Slc26a1 |
T |
A |
5: 108,821,389 (GRCm39) |
T167S |
probably benign |
Het |
| Slc26a7 |
A |
T |
4: 14,593,873 (GRCm39) |
Y81N |
probably damaging |
Het |
| Slc2a12 |
T |
C |
10: 22,577,915 (GRCm39) |
|
probably benign |
Het |
| Slc30a7 |
T |
A |
3: 115,783,789 (GRCm39) |
|
probably null |
Het |
| Slc44a5 |
T |
C |
3: 153,971,111 (GRCm39) |
S654P |
probably damaging |
Het |
| Stard9 |
T |
G |
2: 120,527,480 (GRCm39) |
S1246A |
possibly damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,740,843 (GRCm39) |
S116R |
probably damaging |
Het |
| Syvn1 |
C |
T |
19: 6,102,483 (GRCm39) |
P517L |
probably benign |
Het |
| Tas2r105 |
T |
C |
6: 131,664,393 (GRCm39) |
I12V |
probably benign |
Het |
| Tas2r121 |
A |
G |
6: 132,677,325 (GRCm39) |
S216P |
probably damaging |
Het |
| Tcof1 |
T |
C |
18: 60,978,904 (GRCm39) |
D48G |
probably damaging |
Het |
| Tgm3 |
C |
T |
2: 129,868,602 (GRCm39) |
|
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 |
| Trabd2b |
A |
G |
4: 114,437,519 (GRCm39) |
Q232R |
probably benign |
Het |
| Ttc28 |
T |
A |
5: 111,378,947 (GRCm39) |
I1144N |
probably damaging |
Het |
| Ucp3 |
T |
A |
7: 100,128,748 (GRCm39) |
C25* |
probably null |
Het |
| Ugt3a1 |
A |
G |
15: 9,370,236 (GRCm39) |
D460G |
probably damaging |
Het |
| Urb1 |
T |
C |
16: 90,592,336 (GRCm39) |
D308G |
possibly damaging |
Het |
| Ush1g |
G |
T |
11: 115,209,694 (GRCm39) |
R167S |
possibly damaging |
Het |
| Vav3 |
A |
G |
3: 109,554,995 (GRCm39) |
N81S |
possibly damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,691,721 (GRCm39) |
D267E |
probably benign |
Het |
| Zng1 |
A |
G |
19: 24,918,203 (GRCm39) |
|
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 |
|
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 |
|
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 |
2013-10-16 |
Incidental Mutation