Incidental Mutation 'R9788:Jakmip2'
| ID |
734478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jakmip2
|
| Ensembl Gene |
ENSMUSG00000024502 |
| Gene Name |
janus kinase and microtubule interacting protein 2 |
| Synonyms |
6430702L21Rik, D930046L20Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R9788 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
43664472-43820838 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43704927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 358
(N358I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082254]
|
| AlphaFold |
D3YXK0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082254
AA Change: N358I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
AA Change: N358I
| 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 |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.9%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,192,253 (GRCm39) |
M753K |
probably damaging |
Het |
| Adcy7 |
A |
G |
8: 89,045,733 (GRCm39) |
T572A |
probably benign |
Het |
| Bmp8b |
A |
G |
4: 122,999,369 (GRCm39) |
M76V |
probably damaging |
Het |
| C2cd2 |
A |
G |
16: 97,723,473 (GRCm39) |
S15P |
possibly damaging |
Het |
| Cfh |
T |
C |
1: 140,036,499 (GRCm39) |
I702V |
probably benign |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Cntln |
G |
A |
4: 84,968,093 (GRCm39) |
V771M |
probably damaging |
Het |
| Ear2 |
A |
G |
14: 44,340,705 (GRCm39) |
Y121C |
probably damaging |
Het |
| Ect2l |
C |
T |
10: 18,041,347 (GRCm39) |
C369Y |
possibly damaging |
Het |
| Elapor1 |
G |
A |
3: 108,377,297 (GRCm39) |
T387I |
possibly damaging |
Het |
| Ephb4 |
T |
G |
5: 137,363,743 (GRCm39) |
Y583D |
probably damaging |
Het |
| Gabra2 |
T |
C |
5: 71,192,140 (GRCm39) |
D63G |
probably benign |
Het |
| Gfra1 |
A |
G |
19: 58,441,652 (GRCm39) |
M93T |
probably damaging |
Het |
| Gm3604 |
A |
T |
13: 62,519,724 (GRCm39) |
H10Q |
possibly damaging |
Het |
| Gtf2b |
AATCATC |
AATC |
3: 142,477,178 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
A |
C |
9: 66,307,185 (GRCm39) |
I1002L |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,528,333 (GRCm39) |
I3272V |
probably benign |
Het |
| Izumo3 |
A |
G |
4: 92,035,037 (GRCm39) |
I60T |
probably benign |
Het |
| Klra9 |
T |
A |
6: 130,159,385 (GRCm39) |
K209N |
possibly damaging |
Het |
| Ldah |
A |
T |
12: 8,333,946 (GRCm39) |
Y279F |
possibly damaging |
Het |
| Lrrcc1 |
T |
A |
3: 14,602,286 (GRCm39) |
H126Q |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mipep |
A |
G |
14: 61,083,893 (GRCm39) |
T595A |
probably damaging |
Het |
| Mms22l |
A |
G |
4: 24,586,204 (GRCm39) |
T859A |
probably benign |
Het |
| Mogat1 |
A |
G |
1: 78,499,342 (GRCm39) |
M39V |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,232,100 (GRCm39) |
D968G |
probably damaging |
Het |
| Nab1 |
T |
C |
1: 52,529,166 (GRCm39) |
K244E |
possibly damaging |
Het |
| Nr1h4 |
A |
G |
10: 89,314,638 (GRCm39) |
|
probably null |
Het |
| Nxph1 |
A |
G |
6: 9,247,418 (GRCm39) |
T130A |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,969,678 (GRCm39) |
V2426A |
possibly damaging |
Het |
| Or10j7 |
C |
T |
1: 173,011,458 (GRCm39) |
R181H |
probably benign |
Het |
| Or11l3 |
T |
A |
11: 58,516,692 (GRCm39) |
Y60F |
probably benign |
Het |
| Or1e31 |
T |
C |
11: 73,689,768 (GRCm39) |
T272A |
probably benign |
Het |
| Or4m1 |
A |
G |
14: 50,558,181 (GRCm39) |
F37S |
probably benign |
Het |
| Or5p4 |
T |
C |
7: 107,680,745 (GRCm39) |
V248A |
probably damaging |
Het |
| Or8g21 |
A |
G |
9: 38,906,296 (GRCm39) |
V145A |
possibly damaging |
Het |
| Osbpl3 |
A |
G |
6: 50,324,344 (GRCm39) |
|
probably null |
Het |
| Otop3 |
T |
A |
11: 115,235,087 (GRCm39) |
C259S |
unknown |
Het |
| Pcsk5 |
A |
G |
19: 17,455,245 (GRCm39) |
Y1062H |
probably benign |
Het |
| Phf21a |
T |
C |
2: 92,181,978 (GRCm39) |
|
probably null |
Het |
| Plch1 |
T |
C |
3: 63,681,136 (GRCm39) |
I164V |
probably benign |
Het |
| Plekhh2 |
T |
A |
17: 84,854,892 (GRCm39) |
M42K |
possibly damaging |
Het |
| Plekhm3 |
T |
C |
1: 64,961,422 (GRCm39) |
D278G |
possibly damaging |
Het |
| Plod3 |
A |
G |
5: 137,019,911 (GRCm39) |
Y447C |
probably damaging |
Het |
| Psg16 |
T |
C |
7: 16,824,524 (GRCm39) |
S12P |
possibly damaging |
Het |
| Ptprq |
A |
T |
10: 107,401,751 (GRCm39) |
C1914S |
probably benign |
Het |
| Rai1 |
A |
G |
11: 60,078,080 (GRCm39) |
T715A |
possibly damaging |
Het |
| Rsad2 |
G |
A |
12: 26,500,577 (GRCm39) |
H237Y |
probably benign |
Het |
| Sarm1 |
A |
G |
11: 78,378,863 (GRCm39) |
L394P |
probably damaging |
Het |
| Scube1 |
A |
G |
15: 83,535,901 (GRCm39) |
S258P |
possibly damaging |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc22a26 |
G |
A |
19: 7,763,798 (GRCm39) |
P412S |
probably benign |
Het |
| Son |
TATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGTTCCATGGACTCCCAGATGTTAGCA |
TATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGTTCCATGGACTCCCAGATGTTAGCA |
16: 91,453,699 (GRCm39) |
|
probably benign |
Het |
| Synrg |
A |
T |
11: 83,877,781 (GRCm39) |
H342L |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,788,596 (GRCm39) |
Y478C |
probably benign |
Het |
| Tlr9 |
C |
T |
9: 106,101,006 (GRCm39) |
P99L |
probably damaging |
Het |
| Trip4 |
T |
C |
9: 65,740,702 (GRCm39) |
E535G |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,653,171 (GRCm39) |
L303P |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,041,942 (GRCm39) |
N258D |
possibly damaging |
Het |
| Zfp616 |
G |
A |
11: 73,975,276 (GRCm39) |
G515D |
probably damaging |
Het |
| Zfp786 |
A |
G |
6: 47,797,816 (GRCm39) |
L374P |
probably benign |
Het |
| Zfp82 |
C |
T |
7: 29,755,963 (GRCm39) |
R373H |
probably damaging |
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 |
|
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 |
|
X0057:Jakmip2
|
UTSW |
18 |
43,699,035 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCCTTCCACTCTGCAAG -3'
(R):5'- ACCCTATTTCCCTCAAGATACGAG -3'
Sequencing Primer
(F):5'- TTCCACTCTGCAAGGTTAGAAAC -3'
(R):5'- AAACCTCTCCTGGAAAGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation