Incidental Mutation 'IGL01718:Jakmip3'
| ID |
105007 |
| 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 # |
IGL01718
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
138542459-138663892 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 138591121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 2
(S2A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106111]
[ENSMUST00000166163]
[ENSMUST00000209297]
|
| AlphaFold |
Q5DTN8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068273
AA Change: S2A
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000065675
Gene: ENSMUSG00000056856
AA Change: S2A
| 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 |
possibly damaging
Transcript: ENSMUST00000106111
AA Change: S2A
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101717
Gene: ENSMUSG00000056856
AA Change: S2A
| 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: S2A
PolyPhen 2
Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130207
Gene: ENSMUSG00000056856
AA Change: S2A
| 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 |
unknown
Transcript: ENSMUST00000209297
AA Change: S2A
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a3 |
A |
G |
7: 66,049,953 (GRCm39) |
F422L |
possibly damaging |
Het |
| Ap2m1 |
T |
C |
16: 20,360,944 (GRCm39) |
|
probably benign |
Het |
| Asic1 |
A |
G |
15: 99,569,883 (GRCm39) |
Y68C |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,349,214 (GRCm39) |
D1002G |
possibly damaging |
Het |
| Cyp2c29 |
A |
T |
19: 39,318,704 (GRCm39) |
I434F |
possibly damaging |
Het |
| Diaph3 |
T |
A |
14: 86,893,774 (GRCm39) |
R78S |
unknown |
Het |
| Dnase1l2 |
T |
C |
17: 24,660,690 (GRCm39) |
D188G |
possibly damaging |
Het |
| Exosc9 |
T |
C |
3: 36,608,078 (GRCm39) |
|
probably benign |
Het |
| Fgf23 |
G |
A |
6: 127,057,436 (GRCm39) |
V251I |
probably benign |
Het |
| Fndc3c1 |
T |
C |
X: 105,489,534 (GRCm39) |
T296A |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,938,617 (GRCm39) |
E633G |
probably damaging |
Het |
| Gpr155 |
T |
C |
2: 73,212,576 (GRCm39) |
M16V |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,258,555 (GRCm39) |
N1347K |
probably damaging |
Het |
| Mars1 |
T |
C |
10: 127,141,707 (GRCm39) |
R266G |
possibly damaging |
Het |
| Mplkipl1 |
A |
G |
19: 61,164,199 (GRCm39) |
S79P |
probably damaging |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,675 (GRCm39) |
|
probably null |
Het |
| Or7g20 |
T |
A |
9: 18,946,584 (GRCm39) |
L55* |
probably null |
Het |
| Pdzk1ip1 |
T |
A |
4: 114,950,111 (GRCm39) |
|
probably benign |
Het |
| Ppid |
G |
T |
3: 79,500,986 (GRCm39) |
C52F |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,152,512 (GRCm39) |
I2318T |
possibly damaging |
Het |
| Rhpn2 |
G |
A |
7: 35,070,179 (GRCm39) |
D146N |
probably benign |
Het |
| Tspoap1 |
G |
T |
11: 87,671,081 (GRCm39) |
R1670L |
possibly damaging |
Het |
| Ttc22 |
G |
A |
4: 106,495,773 (GRCm39) |
V376M |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,560,746 (GRCm39) |
L29218F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,560,748 (GRCm39) |
L29218I |
probably damaging |
Het |
| Zfp609 |
G |
A |
9: 65,609,682 (GRCm39) |
Q1094* |
probably null |
Het |
| Zfp831 |
C |
T |
2: 174,485,631 (GRCm39) |
T102I |
possibly damaging |
Het |
| Zglp1 |
C |
T |
9: 20,974,675 (GRCm39) |
C171Y |
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 |
|
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 |
2014-01-21 |
Incidental Mutation