Incidental Mutation 'IGL02357:Jakmip2'
| ID |
290590 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Jakmip2
|
| Ensembl Gene |
ENSMUSG00000024502 |
| Gene Name |
janus kinase and microtubule interacting protein 2 |
| Synonyms |
6430702L21Rik, D930046L20Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.293)
|
| Stock # |
IGL02357
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
43531408-43687773 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43547127 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 722
(T722A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082254]
|
| AlphaFold |
D3YXK0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000082254
AA Change: T722A
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
AA Change: T722A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
13 |
102 |
N/A |
INTRINSIC |
|
coiled coil region
|
206 |
249 |
N/A |
INTRINSIC |
|
Pfam:JAKMIP_CC3
|
409 |
602 |
2.3e-86 |
PFAM |
|
coiled coil region
|
698 |
808 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 reported to be a component of the Golgi matrix. It may act as a golgin protein by negatively regulating transit of secretory cargo and by acting as a structural scaffold of the Golgi. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110035E14Rik |
T |
C |
1: 9,613,319 (GRCm38) |
I44T |
possibly damaging |
Het |
| Abhd8 |
A |
G |
8: 71,461,477 (GRCm38) |
V169A |
probably benign |
Het |
| Adamts16 |
T |
A |
13: 70,738,585 (GRCm38) |
T1029S |
probably benign |
Het |
| Adgrv1 |
C |
A |
13: 81,270,855 (GRCm38) |
C6007F |
probably benign |
Het |
| Ak8 |
A |
T |
2: 28,700,213 (GRCm38) |
H8L |
probably benign |
Het |
| Apol7b |
A |
G |
15: 77,423,632 (GRCm38) |
V221A |
probably benign |
Het |
| BC005624 |
G |
A |
2: 30,973,767 (GRCm38) |
P235S |
probably benign |
Het |
| Casp9 |
C |
A |
4: 141,805,472 (GRCm38) |
D226E |
probably benign |
Het |
| Cd96 |
A |
G |
16: 46,069,776 (GRCm38) |
|
probably benign |
Het |
| Celf1 |
A |
T |
2: 90,998,588 (GRCm38) |
K27I |
probably damaging |
Het |
| Cfap65 |
A |
T |
1: 74,928,348 (GRCm38) |
C190* |
probably null |
Het |
| Cib2 |
A |
T |
9: 54,549,886 (GRCm38) |
H31Q |
probably damaging |
Het |
| Cyp3a59 |
T |
C |
5: 146,079,342 (GRCm38) |
L3P |
probably damaging |
Het |
| Dnajc13 |
T |
C |
9: 104,162,359 (GRCm38) |
M2104V |
possibly damaging |
Het |
| Emb |
A |
G |
13: 117,249,471 (GRCm38) |
|
probably benign |
Het |
| Fbn2 |
G |
T |
18: 58,103,995 (GRCm38) |
N645K |
possibly damaging |
Het |
| Fes |
T |
C |
7: 80,383,830 (GRCm38) |
|
probably null |
Het |
| Flnc |
A |
T |
6: 29,438,493 (GRCm38) |
K129* |
probably null |
Het |
| Gckr |
C |
A |
5: 31,307,790 (GRCm38) |
H368N |
possibly damaging |
Het |
| Gm5145 |
A |
T |
17: 20,570,440 (GRCm38) |
I27F |
probably damaging |
Het |
| Hecw1 |
A |
G |
13: 14,248,338 (GRCm38) |
|
probably null |
Het |
| Hook2 |
C |
T |
8: 84,994,985 (GRCm38) |
Q291* |
probably null |
Het |
| Kcnt2 |
A |
G |
1: 140,351,269 (GRCm38) |
I53V |
probably benign |
Het |
| Lipo2 |
A |
G |
19: 33,730,948 (GRCm38) |
L222P |
possibly damaging |
Het |
| Mrc2 |
A |
G |
11: 105,325,721 (GRCm38) |
D112G |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,912,000 (GRCm38) |
N338S |
probably benign |
Het |
| Mrpl23 |
T |
A |
7: 142,536,065 (GRCm38) |
|
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,850,247 (GRCm38) |
N1442S |
probably benign |
Het |
| Ngdn |
T |
A |
14: 55,021,936 (GRCm38) |
V179E |
probably damaging |
Het |
| Nxn |
A |
G |
11: 76,274,654 (GRCm38) |
|
probably benign |
Het |
| Olfr1349 |
T |
A |
7: 6,515,226 (GRCm38) |
M68L |
probably damaging |
Het |
| Olfr1535 |
A |
G |
13: 21,555,602 (GRCm38) |
L140P |
probably damaging |
Het |
| Osmr |
A |
T |
15: 6,828,663 (GRCm38) |
N441K |
probably benign |
Het |
| Plcb3 |
A |
C |
19: 6,958,178 (GRCm38) |
L789R |
probably damaging |
Het |
| Plek |
C |
T |
11: 16,981,846 (GRCm38) |
R335H |
probably damaging |
Het |
| Pmp22 |
G |
T |
11: 63,158,308 (GRCm38) |
V126F |
probably benign |
Het |
| Prom1 |
A |
G |
5: 44,029,604 (GRCm38) |
|
probably benign |
Het |
| Prss1 |
C |
A |
6: 41,463,205 (GRCm38) |
Q159K |
probably damaging |
Het |
| Psd3 |
G |
T |
8: 67,963,869 (GRCm38) |
H459N |
probably benign |
Het |
| Rusc2 |
T |
G |
4: 43,425,351 (GRCm38) |
V1152G |
possibly damaging |
Het |
| Slc16a4 |
A |
G |
3: 107,303,099 (GRCm38) |
I362V |
probably benign |
Het |
| Slc22a22 |
A |
G |
15: 57,247,448 (GRCm38) |
V461A |
probably benign |
Het |
| Slc35e4 |
C |
T |
11: 3,912,640 (GRCm38) |
R183Q |
probably benign |
Het |
| Spen |
T |
C |
4: 141,477,579 (GRCm38) |
T1246A |
unknown |
Het |
| Syt16 |
T |
C |
12: 74,266,842 (GRCm38) |
V514A |
probably benign |
Het |
| Tdpoz2 |
A |
G |
3: 93,652,428 (GRCm38) |
V79A |
possibly damaging |
Het |
| Tpgs1 |
A |
G |
10: 79,675,759 (GRCm38) |
D245G |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,709,619 (GRCm38) |
V34341A |
probably benign |
Het |
| Wwox |
T |
C |
8: 114,712,142 (GRCm38) |
V316A |
possibly damaging |
Het |
|
| Other mutations in Jakmip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01154:Jakmip2
|
APN |
18 |
43,590,679 (GRCm38) |
utr 5 prime |
probably benign |
|
|
IGL01311:Jakmip2
|
APN |
18 |
43,557,324 (GRCm38) |
splice site |
probably benign |
|
|
IGL01467:Jakmip2
|
APN |
18 |
43,582,287 (GRCm38) |
missense |
probably benign |
0.34 |
|
IGL01947:Jakmip2
|
APN |
18 |
43,547,094 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02010:Jakmip2
|
APN |
18 |
43,559,093 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02040:Jakmip2
|
APN |
18 |
43,571,854 (GRCm38) |
missense |
probably benign |
|
|
IGL02143:Jakmip2
|
APN |
18 |
43,563,285 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02246:Jakmip2
|
APN |
18 |
43,567,158 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL02350:Jakmip2
|
APN |
18 |
43,547,127 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL02725:Jakmip2
|
APN |
18 |
43,562,590 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02833:Jakmip2
|
APN |
18 |
43,575,451 (GRCm38) |
splice site |
probably benign |
|
|
IGL02866:Jakmip2
|
APN |
18 |
43,552,201 (GRCm38) |
missense |
probably benign |
0.28 |
|
IGL02981:Jakmip2
|
APN |
18 |
43,562,530 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0042:Jakmip2
|
UTSW |
18 |
43,552,145 (GRCm38) |
splice site |
probably benign |
|
|
R0044:Jakmip2
|
UTSW |
18 |
43,582,105 (GRCm38) |
missense |
probably benign |
|
|
R0436:Jakmip2
|
UTSW |
18 |
43,558,169 (GRCm38) |
nonsense |
probably null |
|
|
R1453:Jakmip2
|
UTSW |
18 |
43,559,214 (GRCm38) |
splice site |
probably null |
|
|
R1682:Jakmip2
|
UTSW |
18 |
43,581,831 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1829:Jakmip2
|
UTSW |
18 |
43,582,080 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1908:Jakmip2
|
UTSW |
18 |
43,567,144 (GRCm38) |
missense |
probably benign |
|
|
R2070:Jakmip2
|
UTSW |
18 |
43,563,330 (GRCm38) |
missense |
probably benign |
0.34 |
|
R2168:Jakmip2
|
UTSW |
18 |
43,565,930 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2985:Jakmip2
|
UTSW |
18 |
43,571,181 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R3896:Jakmip2
|
UTSW |
18 |
43,549,686 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4243:Jakmip2
|
UTSW |
18 |
43,577,436 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4245:Jakmip2
|
UTSW |
18 |
43,577,436 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4614:Jakmip2
|
UTSW |
18 |
43,562,592 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4687:Jakmip2
|
UTSW |
18 |
43,577,412 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R4830:Jakmip2
|
UTSW |
18 |
43,567,143 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4852:Jakmip2
|
UTSW |
18 |
43,577,400 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5099:Jakmip2
|
UTSW |
18 |
43,568,108 (GRCm38) |
missense |
probably benign |
0.20 |
|
R5381:Jakmip2
|
UTSW |
18 |
43,581,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5753:Jakmip2
|
UTSW |
18 |
43,559,116 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5883:Jakmip2
|
UTSW |
18 |
43,581,994 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R6261:Jakmip2
|
UTSW |
18 |
43,575,534 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6382:Jakmip2
|
UTSW |
18 |
43,571,179 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R6527:Jakmip2
|
UTSW |
18 |
43,556,524 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6612:Jakmip2
|
UTSW |
18 |
43,557,367 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6679:Jakmip2
|
UTSW |
18 |
43,565,949 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7070:Jakmip2
|
UTSW |
18 |
43,557,328 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7103:Jakmip2
|
UTSW |
18 |
43,540,583 (GRCm38) |
splice site |
probably null |
|
|
R7434:Jakmip2
|
UTSW |
18 |
43,557,379 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7446:Jakmip2
|
UTSW |
18 |
43,577,325 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7515:Jakmip2
|
UTSW |
18 |
43,571,126 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7586:Jakmip2
|
UTSW |
18 |
43,540,611 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7720:Jakmip2
|
UTSW |
18 |
43,571,908 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R7999:Jakmip2
|
UTSW |
18 |
43,563,333 (GRCm38) |
missense |
probably benign |
0.21 |
|
R9002:Jakmip2
|
UTSW |
18 |
43,582,258 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9184:Jakmip2
|
UTSW |
18 |
43,582,287 (GRCm38) |
missense |
probably benign |
0.34 |
|
R9248:Jakmip2
|
UTSW |
18 |
43,552,177 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9252:Jakmip2
|
UTSW |
18 |
43,582,129 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9674:Jakmip2
|
UTSW |
18 |
43,571,896 (GRCm38) |
missense |
probably benign |
|
|
R9691:Jakmip2
|
UTSW |
18 |
43,540,620 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9788:Jakmip2
|
UTSW |
18 |
43,571,862 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0057:Jakmip2
|
UTSW |
18 |
43,565,970 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
| Posted On |
2015-04-16 |
Incidental Mutation