Incidental Mutation 'IGL01154:Jakmip2'
ID |
53214 |
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 # |
IGL01154
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
43664472-43820838 bp(-) (GRCm39) |
Type of Mutation |
utr 5 prime |
DNA Base Change (assembly) |
T to C
at 43723744 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 benign
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
2210408I21Rik |
T |
G |
13: 77,429,213 (GRCm39) |
F767V |
probably benign |
Het |
A2m |
C |
A |
6: 121,650,501 (GRCm39) |
S1203* |
probably null |
Het |
Abcc3 |
T |
C |
11: 94,250,058 (GRCm39) |
|
probably benign |
Het |
Adamts13 |
T |
C |
2: 26,896,206 (GRCm39) |
Y1200H |
probably benign |
Het |
Aldh1l2 |
T |
C |
10: 83,356,237 (GRCm39) |
D51G |
probably damaging |
Het |
Apc2 |
A |
G |
10: 80,148,903 (GRCm39) |
E1319G |
possibly damaging |
Het |
Arap3 |
A |
T |
18: 38,129,787 (GRCm39) |
S125T |
probably benign |
Het |
Atp2b1 |
T |
A |
10: 98,832,750 (GRCm39) |
V417E |
probably damaging |
Het |
Bpifa1 |
T |
A |
2: 153,985,920 (GRCm39) |
D78E |
probably benign |
Het |
Catsperb |
C |
A |
12: 101,591,940 (GRCm39) |
A1090E |
possibly damaging |
Het |
Ceacam9 |
C |
A |
7: 16,457,886 (GRCm39) |
T138K |
probably damaging |
Het |
Cenpf |
T |
A |
1: 189,412,530 (GRCm39) |
E244D |
probably benign |
Het |
Cep135 |
A |
T |
5: 76,754,643 (GRCm39) |
|
probably benign |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Col15a1 |
A |
C |
4: 47,208,450 (GRCm39) |
T6P |
possibly damaging |
Het |
Cyp11b1 |
T |
A |
15: 74,710,383 (GRCm39) |
Q306L |
probably benign |
Het |
Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
Dnah5 |
A |
T |
15: 28,458,802 (GRCm39) |
T4480S |
possibly damaging |
Het |
Fastkd1 |
T |
C |
2: 69,520,404 (GRCm39) |
|
probably null |
Het |
Flt1 |
A |
G |
5: 147,512,966 (GRCm39) |
Y1124H |
possibly damaging |
Het |
Fsd1l |
A |
G |
4: 53,701,074 (GRCm39) |
M469V |
probably benign |
Het |
Fxr2 |
T |
C |
11: 69,532,259 (GRCm39) |
|
probably benign |
Het |
Gm10801 |
A |
T |
2: 98,494,328 (GRCm39) |
Y135F |
probably benign |
Het |
Grm4 |
A |
T |
17: 27,653,711 (GRCm39) |
C699* |
probably null |
Het |
Hcn4 |
A |
G |
9: 58,766,362 (GRCm39) |
T677A |
unknown |
Het |
Igkv9-123 |
G |
T |
6: 67,931,518 (GRCm39) |
|
probably benign |
Het |
Irf4 |
T |
A |
13: 30,941,404 (GRCm39) |
H253Q |
possibly damaging |
Het |
Kmt2c |
A |
G |
5: 25,489,397 (GRCm39) |
V1134A |
probably damaging |
Het |
Limch1 |
G |
T |
5: 66,903,301 (GRCm39) |
E17* |
probably null |
Het |
Nap1l1 |
T |
A |
10: 111,322,536 (GRCm39) |
N72K |
probably damaging |
Het |
Or4x11 |
T |
C |
2: 89,867,812 (GRCm39) |
L183P |
probably damaging |
Het |
Or51t4 |
T |
C |
7: 102,598,046 (GRCm39) |
S115P |
probably damaging |
Het |
Otud6b |
A |
T |
4: 14,811,732 (GRCm39) |
Y304N |
probably damaging |
Het |
Pdcd10 |
A |
C |
3: 75,448,540 (GRCm39) |
M8R |
probably damaging |
Het |
Ppip5k1 |
T |
C |
2: 121,173,660 (GRCm39) |
T404A |
probably damaging |
Het |
Ppp2r2d |
C |
T |
7: 138,483,940 (GRCm39) |
A197V |
probably benign |
Het |
Psg25 |
C |
T |
7: 18,258,624 (GRCm39) |
D351N |
probably benign |
Het |
Sbno1 |
A |
T |
5: 124,548,312 (GRCm39) |
I87N |
probably damaging |
Het |
Stfa2l1 |
C |
T |
16: 35,980,307 (GRCm39) |
|
probably benign |
Het |
Sugp2 |
T |
A |
8: 70,695,349 (GRCm39) |
D107E |
probably damaging |
Het |
Syne1 |
G |
T |
10: 5,310,848 (GRCm39) |
F576L |
probably damaging |
Het |
Syne3 |
A |
G |
12: 104,924,328 (GRCm39) |
F357S |
probably benign |
Het |
Tenm2 |
A |
G |
11: 35,932,371 (GRCm39) |
L1741P |
probably damaging |
Het |
Tgs1 |
A |
T |
4: 3,585,473 (GRCm39) |
K117* |
probably null |
Het |
Tram1 |
C |
T |
1: 13,649,673 (GRCm39) |
|
probably null |
Het |
Trank1 |
T |
A |
9: 111,215,468 (GRCm39) |
D1799E |
probably benign |
Het |
Ttc14 |
A |
T |
3: 33,857,248 (GRCm39) |
Y198F |
probably benign |
Het |
Ube3b |
A |
G |
5: 114,544,313 (GRCm39) |
N570S |
probably null |
Het |
Ube4b |
A |
G |
4: 149,449,927 (GRCm39) |
F412S |
probably benign |
Het |
Vac14 |
T |
C |
8: 111,380,239 (GRCm39) |
|
probably benign |
Het |
Vmn2r65 |
T |
C |
7: 84,592,729 (GRCm39) |
T493A |
probably benign |
Het |
Zfp408 |
T |
C |
2: 91,478,351 (GRCm39) |
|
probably benign |
Het |
Zfp580 |
C |
T |
7: 5,056,267 (GRCm39) |
T209I |
possibly damaging |
Het |
|
Other mutations in Jakmip2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02981:Jakmip2
|
APN |
18 |
43,695,595 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
2013-06-21 |