Incidental Mutation 'IGL02149:Jakmip3'
| ID |
281914 |
| 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: 0.083)
|
| Stock # |
IGL02149
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
138542459-138663892 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 138609075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 60
(V60M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106111]
[ENSMUST00000166163]
[ENSMUST00000209297]
|
| AlphaFold |
Q5DTN8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106111
AA Change: V60M
PolyPhen 2
Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000101717
Gene: ENSMUSG00000056856
AA Change: V60M
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
349 |
N/A |
INTRINSIC |
|
coiled coil region
|
421 |
452 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166163
AA Change: V60M
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000130207
Gene: ENSMUSG00000056856
AA Change: V60M
| 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
AA Change: V60M
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam10 |
A |
T |
9: 70,610,713 (GRCm39) |
H67L |
probably damaging |
Het |
| Adgrb1 |
C |
T |
15: 74,412,326 (GRCm39) |
T435I |
probably damaging |
Het |
| Adgrd1 |
T |
A |
5: 129,256,325 (GRCm39) |
F652Y |
probably damaging |
Het |
| Adgrl4 |
T |
A |
3: 151,205,991 (GRCm39) |
F250Y |
possibly damaging |
Het |
| Aebp2 |
C |
T |
6: 140,588,010 (GRCm39) |
A360V |
probably benign |
Het |
| AW551984 |
A |
C |
9: 39,504,220 (GRCm39) |
M582R |
probably benign |
Het |
| B430306N03Rik |
T |
C |
17: 48,624,020 (GRCm39) |
V107A |
probably benign |
Het |
| Cage1 |
T |
C |
13: 38,206,505 (GRCm39) |
N447D |
probably damaging |
Het |
| Col17a1 |
T |
C |
19: 47,657,071 (GRCm39) |
D524G |
probably benign |
Het |
| Dpp6 |
A |
T |
5: 27,743,022 (GRCm39) |
I218F |
probably benign |
Het |
| Ep300 |
T |
G |
15: 81,512,621 (GRCm39) |
|
probably benign |
Het |
| Ephb2 |
C |
T |
4: 136,421,225 (GRCm39) |
C375Y |
probably damaging |
Het |
| Fastk |
A |
G |
5: 24,649,051 (GRCm39) |
V112A |
probably damaging |
Het |
| Fbxo11 |
T |
A |
17: 88,301,187 (GRCm39) |
R775S |
possibly damaging |
Het |
| Fbxw20 |
A |
G |
9: 109,062,886 (GRCm39) |
|
probably null |
Het |
| Hamp2 |
G |
T |
7: 30,622,122 (GRCm39) |
A50E |
probably damaging |
Het |
| Il22b |
C |
A |
10: 118,130,902 (GRCm39) |
|
probably benign |
Het |
| Ints1 |
G |
A |
5: 139,737,715 (GRCm39) |
R2139C |
probably damaging |
Het |
| Itgae |
T |
A |
11: 72,994,720 (GRCm39) |
V24E |
probably benign |
Het |
| Kcnk10 |
A |
C |
12: 98,485,099 (GRCm39) |
|
probably benign |
Het |
| Klra1 |
A |
T |
6: 130,352,293 (GRCm39) |
C150S |
probably damaging |
Het |
| Lhx9 |
A |
T |
1: 138,759,172 (GRCm39) |
V376E |
probably damaging |
Het |
| Mdm1 |
T |
A |
10: 117,983,970 (GRCm39) |
F199I |
probably damaging |
Het |
| Nipal3 |
G |
T |
4: 135,194,163 (GRCm39) |
T290K |
possibly damaging |
Het |
| Obsl1 |
C |
T |
1: 75,480,464 (GRCm39) |
E387K |
probably damaging |
Het |
| Or8b43 |
A |
G |
9: 38,360,693 (GRCm39) |
H175R |
probably damaging |
Het |
| Oxct1 |
A |
G |
15: 4,120,711 (GRCm39) |
Y265C |
probably damaging |
Het |
| Pccb |
G |
A |
9: 100,867,243 (GRCm39) |
H411Y |
probably damaging |
Het |
| Pkp1 |
A |
G |
1: 135,814,485 (GRCm39) |
S279P |
probably benign |
Het |
| Prdm14 |
C |
A |
1: 13,195,663 (GRCm39) |
G133C |
probably benign |
Het |
| Prkaa2 |
A |
T |
4: 104,897,285 (GRCm39) |
N309K |
probably benign |
Het |
| Shc2 |
T |
C |
10: 79,458,102 (GRCm39) |
D527G |
probably damaging |
Het |
| Shkbp1 |
C |
T |
7: 27,042,064 (GRCm39) |
|
probably benign |
Het |
| Skil |
T |
C |
3: 31,151,856 (GRCm39) |
V126A |
possibly damaging |
Het |
| Slc25a36 |
A |
T |
9: 96,975,122 (GRCm39) |
|
probably benign |
Het |
| Slc2a13 |
T |
C |
15: 91,227,924 (GRCm39) |
T423A |
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,657,892 (GRCm39) |
|
probably benign |
Het |
| Stag1 |
A |
G |
9: 100,769,442 (GRCm39) |
D519G |
probably benign |
Het |
| Tmprss2 |
G |
T |
16: 97,400,479 (GRCm39) |
|
probably benign |
Het |
| Trim66 |
G |
T |
7: 109,060,109 (GRCm39) |
T759K |
possibly damaging |
Het |
| Trpc4ap |
C |
A |
2: 155,481,467 (GRCm39) |
A530S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,642,099 (GRCm39) |
D11625E |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,483,141 (GRCm39) |
I42M |
possibly damaging |
Het |
| Ubxn10 |
A |
G |
4: 138,448,584 (GRCm39) |
S31P |
probably benign |
Het |
| Ubxn7 |
A |
G |
16: 32,194,088 (GRCm39) |
Y220C |
probably damaging |
Het |
| Vmn1r234 |
A |
G |
17: 21,449,269 (GRCm39) |
Y61C |
probably benign |
Het |
|
| Other mutations in Jakmip3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01013:Jakmip3
|
APN |
7 |
138,619,302 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation