Incidental Mutation 'IGL01013:Jakmip3'
ID |
53660 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Jakmip3
|
Ensembl Gene |
ENSMUSG00000056856 |
Gene Name |
janus kinase and microtubule interacting protein 3 |
Synonyms |
6330417G02Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.095)
|
Stock # |
IGL01013
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
138542459-138663892 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 138619302 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Alanine
at position 228
(E228A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130207
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106111]
[ENSMUST00000166163]
[ENSMUST00000209297]
|
AlphaFold |
Q5DTN8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068273
AA Change: E228A
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000065675 Gene: ENSMUSG00000056856 AA Change: E228A
Domain | Start | End | E-Value | Type |
coiled coil region
|
9 |
255 |
N/A |
INTRINSIC |
low complexity region
|
270 |
282 |
N/A |
INTRINSIC |
coiled coil region
|
289 |
421 |
N/A |
INTRINSIC |
Pfam:JAKMIP_CC3
|
429 |
626 |
1.2e-87 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106111
|
SMART Domains |
Protein: ENSMUSP00000101717 Gene: ENSMUSG00000056856
Domain | Start | End | E-Value | Type |
coiled coil region
|
9 |
349 |
N/A |
INTRINSIC |
coiled coil region
|
421 |
452 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166163
AA Change: E228A
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000130207 Gene: ENSMUSG00000056856 AA Change: E228A
Domain | Start | End | E-Value | Type |
coiled coil region
|
9 |
255 |
N/A |
INTRINSIC |
low complexity region
|
270 |
282 |
N/A |
INTRINSIC |
coiled coil region
|
289 |
421 |
N/A |
INTRINSIC |
coiled coil region
|
493 |
524 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209297
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210718
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
T |
A |
5: 77,034,053 (GRCm39) |
E499D |
possibly damaging |
Het |
Abca1 |
A |
T |
4: 53,038,185 (GRCm39) |
L2059* |
probably null |
Het |
Ankar |
T |
A |
1: 72,690,148 (GRCm39) |
I1228F |
possibly damaging |
Het |
Appl1 |
A |
T |
14: 26,671,433 (GRCm39) |
Y340N |
possibly damaging |
Het |
Atp8b4 |
C |
A |
2: 126,165,007 (GRCm39) |
R1103L |
probably benign |
Het |
B4galt6 |
A |
G |
18: 20,822,070 (GRCm39) |
V308A |
probably damaging |
Het |
Ccdc162 |
G |
A |
10: 41,457,335 (GRCm39) |
P1534L |
probably benign |
Het |
Ccdc78 |
A |
G |
17: 26,008,028 (GRCm39) |
E313G |
possibly damaging |
Het |
Cep57l1 |
G |
A |
10: 41,616,865 (GRCm39) |
R141* |
probably null |
Het |
Cpsf1 |
G |
A |
15: 76,483,497 (GRCm39) |
Q883* |
probably null |
Het |
Crot |
A |
G |
5: 9,043,575 (GRCm39) |
Y16H |
probably benign |
Het |
Cyld |
T |
G |
8: 89,468,990 (GRCm39) |
L587R |
probably damaging |
Het |
Fam114a1 |
G |
A |
5: 65,188,738 (GRCm39) |
|
probably null |
Het |
Fam89b |
G |
T |
19: 5,779,397 (GRCm39) |
D53E |
probably benign |
Het |
Fig4 |
T |
C |
10: 41,143,782 (GRCm39) |
M226V |
probably benign |
Het |
Gm10722 |
A |
T |
9: 3,002,230 (GRCm39) |
Y184F |
probably damaging |
Het |
Hp |
C |
A |
8: 110,305,653 (GRCm39) |
|
probably benign |
Het |
Igsf9b |
G |
T |
9: 27,245,600 (GRCm39) |
R1189L |
probably damaging |
Het |
Ilf3 |
A |
G |
9: 21,310,987 (GRCm39) |
N620D |
possibly damaging |
Het |
Kpna3 |
A |
T |
14: 61,607,966 (GRCm39) |
I413K |
probably damaging |
Het |
Letm1 |
A |
T |
5: 33,919,934 (GRCm39) |
C202S |
possibly damaging |
Het |
Lmod2 |
C |
A |
6: 24,604,134 (GRCm39) |
Q370K |
probably damaging |
Het |
Map4k5 |
T |
C |
12: 69,874,300 (GRCm39) |
|
probably benign |
Het |
Mcidas |
T |
A |
13: 113,134,119 (GRCm39) |
|
probably benign |
Het |
Mme |
A |
G |
3: 63,235,281 (GRCm39) |
|
probably null |
Het |
Mrc1 |
T |
C |
2: 14,333,236 (GRCm39) |
W1306R |
probably damaging |
Het |
Mthfd1l |
C |
A |
10: 3,980,716 (GRCm39) |
Q473K |
probably damaging |
Het |
Muc6 |
A |
T |
7: 141,234,333 (GRCm39) |
C719* |
probably null |
Het |
Nsun7 |
T |
C |
5: 66,440,944 (GRCm39) |
I355T |
possibly damaging |
Het |
Padi6 |
A |
G |
4: 140,456,314 (GRCm39) |
L560P |
probably damaging |
Het |
Parl |
C |
A |
16: 20,101,540 (GRCm39) |
A285S |
possibly damaging |
Het |
Pclo |
A |
T |
5: 14,843,848 (GRCm39) |
M4795L |
unknown |
Het |
Polr2f |
A |
G |
15: 79,030,329 (GRCm39) |
Y56C |
probably damaging |
Het |
Rasgrp2 |
A |
T |
19: 6,454,413 (GRCm39) |
H152L |
probably damaging |
Het |
Rpl10l |
T |
C |
12: 66,331,001 (GRCm39) |
D44G |
probably benign |
Het |
Slc25a16 |
A |
G |
10: 62,780,212 (GRCm39) |
|
probably null |
Het |
Snrnp200 |
G |
A |
2: 127,074,392 (GRCm39) |
E1411K |
probably damaging |
Het |
Tanc2 |
G |
A |
11: 105,515,891 (GRCm39) |
R3Q |
probably damaging |
Het |
Tbc1d32 |
G |
T |
10: 56,078,055 (GRCm39) |
|
probably null |
Het |
Tcf7l2 |
T |
C |
19: 55,908,059 (GRCm39) |
|
probably benign |
Het |
Tnrc6c |
G |
T |
11: 117,612,855 (GRCm39) |
V498L |
probably benign |
Het |
Tymp |
G |
A |
15: 89,260,513 (GRCm39) |
H102Y |
probably damaging |
Het |
Wdr76 |
T |
C |
2: 121,365,978 (GRCm39) |
S492P |
probably benign |
Het |
Zc3h12d |
T |
C |
10: 7,715,720 (GRCm39) |
I41T |
probably damaging |
Het |
|
Other mutations in Jakmip3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01095:Jakmip3
|
APN |
7 |
138,622,546 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01356:Jakmip3
|
APN |
7 |
138,619,341 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01718:Jakmip3
|
APN |
7 |
138,591,121 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01759:Jakmip3
|
APN |
7 |
138,622,633 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02149:Jakmip3
|
APN |
7 |
138,609,075 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL02152:Jakmip3
|
APN |
7 |
138,627,217 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02691:Jakmip3
|
APN |
7 |
138,628,573 (GRCm39) |
nonsense |
probably null |
|
R1175:Jakmip3
|
UTSW |
7 |
138,629,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R1439:Jakmip3
|
UTSW |
7 |
138,631,375 (GRCm39) |
missense |
probably benign |
0.00 |
R1509:Jakmip3
|
UTSW |
7 |
138,629,505 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1868:Jakmip3
|
UTSW |
7 |
138,609,316 (GRCm39) |
missense |
probably benign |
0.04 |
R1938:Jakmip3
|
UTSW |
7 |
138,621,867 (GRCm39) |
missense |
probably damaging |
0.97 |
R2566:Jakmip3
|
UTSW |
7 |
138,591,197 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3418:Jakmip3
|
UTSW |
7 |
138,619,474 (GRCm39) |
intron |
probably benign |
|
R4825:Jakmip3
|
UTSW |
7 |
138,628,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R5011:Jakmip3
|
UTSW |
7 |
138,621,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R5327:Jakmip3
|
UTSW |
7 |
138,627,164 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5519:Jakmip3
|
UTSW |
7 |
138,609,520 (GRCm39) |
missense |
probably damaging |
1.00 |
R6291:Jakmip3
|
UTSW |
7 |
138,622,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R6393:Jakmip3
|
UTSW |
7 |
138,620,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R6960:Jakmip3
|
UTSW |
7 |
138,625,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R7116:Jakmip3
|
UTSW |
7 |
138,621,979 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7191:Jakmip3
|
UTSW |
7 |
138,591,257 (GRCm39) |
splice site |
probably null |
|
R7232:Jakmip3
|
UTSW |
7 |
138,609,355 (GRCm39) |
missense |
probably benign |
0.00 |
R7385:Jakmip3
|
UTSW |
7 |
138,625,068 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7482:Jakmip3
|
UTSW |
7 |
138,627,228 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7657:Jakmip3
|
UTSW |
7 |
138,620,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R7814:Jakmip3
|
UTSW |
7 |
138,620,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R8321:Jakmip3
|
UTSW |
7 |
138,628,613 (GRCm39) |
missense |
probably benign |
|
R8886:Jakmip3
|
UTSW |
7 |
138,609,171 (GRCm39) |
missense |
probably benign |
0.01 |
R9109:Jakmip3
|
UTSW |
7 |
138,622,560 (GRCm39) |
missense |
probably damaging |
0.98 |
R9576:Jakmip3
|
UTSW |
7 |
138,621,988 (GRCm39) |
missense |
probably damaging |
0.97 |
R9629:Jakmip3
|
UTSW |
7 |
138,625,118 (GRCm39) |
critical splice donor site |
probably null |
|
R9643:Jakmip3
|
UTSW |
7 |
138,621,915 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Jakmip3
|
UTSW |
7 |
138,621,862 (GRCm39) |
missense |
probably benign |
0.16 |
|
Posted On |
2013-06-28 |