Incidental Mutation 'IGL02981:Jakmip2'
| ID |
406564 |
| 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: 0.316)
|
| Stock # |
IGL02981
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
43664472-43820838 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 43695595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082254]
|
| AlphaFold |
D3YXK0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000082254
|
| SMART Domains |
Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
A |
G |
2: 150,675,044 (GRCm39) |
S392P |
probably benign |
Het |
| Adam23 |
G |
A |
1: 63,610,112 (GRCm39) |
V705I |
probably damaging |
Het |
| Ank2 |
T |
G |
3: 126,728,211 (GRCm39) |
D794A |
possibly damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Aqr |
T |
C |
2: 113,965,305 (GRCm39) |
|
probably benign |
Het |
| Atp9b |
A |
G |
18: 80,797,504 (GRCm39) |
V857A |
possibly damaging |
Het |
| Banp |
T |
C |
8: 122,705,303 (GRCm39) |
Y58H |
possibly damaging |
Het |
| Cacna1e |
T |
A |
1: 154,347,171 (GRCm39) |
N999Y |
probably benign |
Het |
| Cd14 |
T |
C |
18: 36,859,532 (GRCm39) |
|
probably benign |
Het |
| Crmp1 |
T |
C |
5: 37,443,770 (GRCm39) |
I447T |
probably damaging |
Het |
| Dip2a |
A |
G |
10: 76,112,255 (GRCm39) |
V1090A |
possibly damaging |
Het |
| Ep400 |
T |
A |
5: 110,903,969 (GRCm39) |
H210L |
possibly damaging |
Het |
| Ep400 |
T |
A |
5: 110,839,476 (GRCm39) |
|
probably benign |
Het |
| Fam243 |
T |
C |
16: 92,117,757 (GRCm39) |
N177S |
probably benign |
Het |
| Fbxw26 |
A |
G |
9: 109,573,862 (GRCm39) |
F97L |
probably benign |
Het |
| Fut8 |
C |
A |
12: 77,521,812 (GRCm39) |
P484T |
probably damaging |
Het |
| Golph3 |
A |
G |
15: 12,349,550 (GRCm39) |
E190G |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,815,670 (GRCm39) |
D1472E |
possibly damaging |
Het |
| Hnrnpdl |
T |
C |
5: 100,184,958 (GRCm39) |
I298V |
possibly damaging |
Het |
| Kcnj5 |
G |
A |
9: 32,233,877 (GRCm39) |
T146I |
probably damaging |
Het |
| Lyst |
T |
G |
13: 13,809,496 (GRCm39) |
F389V |
probably damaging |
Het |
| Myo1b |
A |
G |
1: 51,817,532 (GRCm39) |
S577P |
probably damaging |
Het |
| Myo3b |
T |
C |
2: 69,938,969 (GRCm39) |
V114A |
probably damaging |
Het |
| Or10a2 |
C |
A |
7: 106,673,758 (GRCm39) |
T241N |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,678,714 (GRCm39) |
G901R |
probably benign |
Het |
| Patz1 |
T |
C |
11: 3,240,656 (GRCm39) |
Y15H |
probably damaging |
Het |
| Pdp2 |
T |
C |
8: 105,320,267 (GRCm39) |
W39R |
probably benign |
Het |
| Poc5 |
T |
C |
13: 96,538,265 (GRCm39) |
|
probably null |
Het |
| Pou3f1 |
A |
G |
4: 124,552,236 (GRCm39) |
D246G |
probably damaging |
Het |
| Pramel5 |
T |
A |
4: 143,999,430 (GRCm39) |
Y219F |
probably benign |
Het |
| Prrc2c |
C |
T |
1: 162,532,748 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,676,670 (GRCm39) |
K678E |
probably damaging |
Het |
| Rps2 |
T |
C |
17: 24,940,698 (GRCm39) |
F271L |
probably benign |
Het |
| Serpina3k |
C |
A |
12: 104,307,250 (GRCm39) |
Q161K |
probably benign |
Het |
| Serpinb6b |
A |
G |
13: 33,155,589 (GRCm39) |
T101A |
probably benign |
Het |
| Tprkb |
T |
A |
6: 85,904,861 (GRCm39) |
D112E |
probably benign |
Het |
| Tubal3 |
A |
G |
13: 3,983,257 (GRCm39) |
T346A |
probably benign |
Het |
| Vwde |
A |
G |
6: 13,193,112 (GRCm39) |
F409S |
possibly damaging |
Het |
| Zbtb6 |
G |
A |
2: 37,319,176 (GRCm39) |
Q251* |
probably null |
Het |
|
| Other mutations in Jakmip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01154:Jakmip2
|
APN |
18 |
43,723,744 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01311:Jakmip2
|
APN |
18 |
43,690,389 (GRCm39) |
splice site |
probably benign |
|
|
IGL01467:Jakmip2
|
APN |
18 |
43,715,352 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL01947:Jakmip2
|
APN |
18 |
43,680,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02010:Jakmip2
|
APN |
18 |
43,692,158 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02040:Jakmip2
|
APN |
18 |
43,704,919 (GRCm39) |
missense |
probably benign |
|
|
IGL02143:Jakmip2
|
APN |
18 |
43,696,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02246:Jakmip2
|
APN |
18 |
43,700,223 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02350:Jakmip2
|
APN |
18 |
43,680,192 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02357:Jakmip2
|
APN |
18 |
43,680,192 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02725:Jakmip2
|
APN |
18 |
43,695,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02833:Jakmip2
|
APN |
18 |
43,708,516 (GRCm39) |
splice site |
probably benign |
|
|
IGL02866:Jakmip2
|
APN |
18 |
43,685,266 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0042:Jakmip2
|
UTSW |
18 |
43,685,210 (GRCm39) |
splice site |
probably benign |
|
|
R0044:Jakmip2
|
UTSW |
18 |
43,715,170 (GRCm39) |
missense |
probably benign |
|
|
R0436:Jakmip2
|
UTSW |
18 |
43,691,234 (GRCm39) |
nonsense |
probably null |
|
|
R1453:Jakmip2
|
UTSW |
18 |
43,692,279 (GRCm39) |
splice site |
probably null |
|
|
R1682:Jakmip2
|
UTSW |
18 |
43,714,896 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1829:Jakmip2
|
UTSW |
18 |
43,715,145 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1908:Jakmip2
|
UTSW |
18 |
43,700,209 (GRCm39) |
missense |
probably benign |
|
|
R2070:Jakmip2
|
UTSW |
18 |
43,696,395 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2168:Jakmip2
|
UTSW |
18 |
43,698,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2985:Jakmip2
|
UTSW |
18 |
43,704,246 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3896:Jakmip2
|
UTSW |
18 |
43,682,751 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4243:Jakmip2
|
UTSW |
18 |
43,710,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4245:Jakmip2
|
UTSW |
18 |
43,710,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4614:Jakmip2
|
UTSW |
18 |
43,695,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4687:Jakmip2
|
UTSW |
18 |
43,710,477 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4830:Jakmip2
|
UTSW |
18 |
43,700,208 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4852:Jakmip2
|
UTSW |
18 |
43,710,465 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5099:Jakmip2
|
UTSW |
18 |
43,701,173 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5381:Jakmip2
|
UTSW |
18 |
43,715,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5753:Jakmip2
|
UTSW |
18 |
43,692,181 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5883:Jakmip2
|
UTSW |
18 |
43,715,059 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6261:Jakmip2
|
UTSW |
18 |
43,708,599 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6382:Jakmip2
|
UTSW |
18 |
43,704,244 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6527:Jakmip2
|
UTSW |
18 |
43,689,589 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6612:Jakmip2
|
UTSW |
18 |
43,690,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6679:Jakmip2
|
UTSW |
18 |
43,699,014 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7070:Jakmip2
|
UTSW |
18 |
43,690,393 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7103:Jakmip2
|
UTSW |
18 |
43,673,648 (GRCm39) |
splice site |
probably null |
|
|
R7434:Jakmip2
|
UTSW |
18 |
43,690,444 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7446:Jakmip2
|
UTSW |
18 |
43,710,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7515:Jakmip2
|
UTSW |
18 |
43,704,191 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7586:Jakmip2
|
UTSW |
18 |
43,673,676 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7720:Jakmip2
|
UTSW |
18 |
43,704,973 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7999:Jakmip2
|
UTSW |
18 |
43,696,398 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9002:Jakmip2
|
UTSW |
18 |
43,715,323 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9184:Jakmip2
|
UTSW |
18 |
43,715,352 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9248:Jakmip2
|
UTSW |
18 |
43,685,242 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9252:Jakmip2
|
UTSW |
18 |
43,715,194 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9674:Jakmip2
|
UTSW |
18 |
43,704,961 (GRCm39) |
missense |
probably benign |
|
|
R9691:Jakmip2
|
UTSW |
18 |
43,673,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9788:Jakmip2
|
UTSW |
18 |
43,704,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0057:Jakmip2
|
UTSW |
18 |
43,699,035 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
| Posted On |
2016-08-02 |
Incidental Mutation