Incidental Mutation 'R9691:Jakmip2'
ID |
729186 |
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: 0.316)
|
Stock # |
R9691 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
43664472-43820838 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 43673685 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 793
(I793N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080881
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082254]
|
AlphaFold |
D3YXK0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000082254
AA Change: I793N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000080881 Gene: ENSMUSG00000024502 AA Change: I793N
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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 |
Ahnak |
T |
C |
19: 8,989,090 (GRCm39) |
M3458T |
possibly damaging |
Het |
Akap9 |
T |
G |
5: 4,010,491 (GRCm39) |
L398R |
probably damaging |
Het |
Anks3 |
A |
T |
16: 4,759,840 (GRCm39) |
C635S |
probably benign |
Het |
Ankzf1 |
C |
A |
1: 75,175,196 (GRCm39) |
Q649K |
probably benign |
Het |
Atp8a2 |
T |
C |
14: 60,245,829 (GRCm39) |
E621G |
probably damaging |
Het |
Bscl2 |
A |
G |
19: 8,817,110 (GRCm39) |
T13A |
probably benign |
Het |
Cd109 |
T |
C |
9: 78,611,074 (GRCm39) |
L1230P |
possibly damaging |
Het |
Celsr2 |
T |
A |
3: 108,301,551 (GRCm39) |
S2678C |
probably damaging |
Het |
Cnot10 |
A |
G |
9: 114,420,715 (GRCm39) |
L709P |
probably damaging |
Het |
Col5a1 |
G |
A |
2: 27,842,994 (GRCm39) |
R449Q |
unknown |
Het |
Cyp3a25 |
T |
A |
5: 145,931,732 (GRCm39) |
E125D |
probably benign |
Het |
Ddx50 |
T |
G |
10: 62,476,524 (GRCm39) |
I250L |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,852,249 (GRCm39) |
N1859S |
probably damaging |
Het |
Dnajc13 |
A |
G |
9: 104,042,211 (GRCm39) |
L2008P |
probably damaging |
Het |
Dock4 |
C |
T |
12: 40,686,097 (GRCm39) |
L111F |
probably damaging |
Het |
Ffar3 |
C |
G |
7: 30,555,119 (GRCm39) |
R67P |
probably damaging |
Het |
Gdap2 |
C |
T |
3: 100,109,441 (GRCm39) |
A486V |
probably benign |
Het |
Gm45871 |
G |
A |
18: 90,610,111 (GRCm39) |
V450M |
possibly damaging |
Het |
Golgb1 |
T |
A |
16: 36,718,996 (GRCm39) |
S342T |
probably damaging |
Het |
Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
Grm5 |
T |
C |
7: 87,723,903 (GRCm39) |
I731T |
probably damaging |
Het |
Gxylt2 |
A |
T |
6: 100,760,109 (GRCm39) |
T215S |
probably damaging |
Het |
Kcnc1 |
C |
A |
7: 46,076,955 (GRCm39) |
C252* |
probably null |
Het |
Kdr |
T |
A |
5: 76,129,521 (GRCm39) |
D122V |
probably damaging |
Het |
Kmt2a |
G |
A |
9: 44,731,557 (GRCm39) |
P2920L |
unknown |
Het |
Lrrc31 |
T |
C |
3: 30,741,617 (GRCm39) |
E264G |
probably damaging |
Het |
Mbnl1 |
A |
G |
3: 60,529,614 (GRCm39) |
T256A |
probably benign |
Het |
Myh3 |
A |
G |
11: 66,991,921 (GRCm39) |
E1822G |
possibly damaging |
Het |
Ndst4 |
A |
G |
3: 125,518,344 (GRCm39) |
N155S |
unknown |
Het |
Negr1 |
T |
C |
3: 156,267,898 (GRCm39) |
C23R |
probably damaging |
Het |
Nfia |
T |
A |
4: 97,671,465 (GRCm39) |
D58E |
probably damaging |
Het |
Nrp1 |
A |
T |
8: 129,202,650 (GRCm39) |
N545I |
probably damaging |
Het |
Nrtn |
T |
A |
17: 57,059,480 (GRCm39) |
|
probably benign |
Het |
Or2a14 |
A |
G |
6: 43,130,629 (GRCm39) |
H130R |
probably benign |
Het |
Or4c100 |
T |
C |
2: 88,356,421 (GRCm39) |
F165L |
probably benign |
Het |
Or5an11 |
C |
T |
19: 12,246,379 (GRCm39) |
R262* |
probably null |
Het |
Pclo |
G |
A |
5: 14,727,558 (GRCm39) |
D2139N |
unknown |
Het |
Phlpp1 |
C |
T |
1: 106,246,699 (GRCm39) |
Q630* |
probably null |
Het |
Pkd1 |
T |
C |
17: 24,796,812 (GRCm39) |
V2429A |
possibly damaging |
Het |
Pramel20 |
T |
A |
4: 143,299,328 (GRCm39) |
H330Q |
probably benign |
Het |
Pramel30 |
T |
C |
4: 144,056,844 (GRCm39) |
L9P |
probably damaging |
Het |
Prkch |
A |
G |
12: 73,805,730 (GRCm39) |
K502E |
probably damaging |
Het |
Rad51ap2 |
A |
G |
12: 11,509,413 (GRCm39) |
K930E |
possibly damaging |
Het |
Reep4 |
T |
A |
14: 70,785,683 (GRCm39) |
N204K |
probably benign |
Het |
Rin2 |
T |
C |
2: 145,690,764 (GRCm39) |
L144P |
probably damaging |
Het |
Scfd2 |
T |
C |
5: 74,691,611 (GRCm39) |
S224G |
possibly damaging |
Het |
Srprb |
A |
G |
9: 103,069,481 (GRCm39) |
Y158H |
probably damaging |
Het |
Thbs4 |
T |
A |
13: 92,890,896 (GRCm39) |
H857L |
probably damaging |
Het |
Tmem184a |
A |
G |
5: 139,798,790 (GRCm39) |
L77P |
possibly damaging |
Het |
Trbv26 |
G |
T |
6: 41,204,478 (GRCm39) |
C7F |
probably benign |
Het |
Trip11 |
A |
G |
12: 101,850,123 (GRCm39) |
S1314P |
probably benign |
Het |
Ttc28 |
A |
T |
5: 111,431,879 (GRCm39) |
T1951S |
probably benign |
Het |
Ttc29 |
A |
C |
8: 78,972,895 (GRCm39) |
D115A |
possibly damaging |
Het |
Upf2 |
G |
A |
2: 6,032,024 (GRCm39) |
V857I |
unknown |
Het |
Vmn2r43 |
A |
G |
7: 8,247,787 (GRCm39) |
V792A |
probably damaging |
Het |
Washc5 |
A |
T |
15: 59,218,706 (GRCm39) |
I687N |
probably damaging |
Het |
Wwc2 |
G |
A |
8: 48,281,799 (GRCm39) |
|
probably benign |
Het |
Xirp2 |
G |
A |
2: 67,340,539 (GRCm39) |
E927K |
possibly damaging |
Het |
Zc3hav1l |
A |
G |
6: 38,276,112 (GRCm39) |
F22L |
probably benign |
Het |
Zfp407 |
C |
T |
18: 84,578,312 (GRCm39) |
A934T |
probably benign |
Het |
Zfp986 |
T |
A |
4: 145,626,070 (GRCm39) |
S243R |
probably benign |
Het |
Zfyve9 |
T |
C |
4: 108,576,305 (GRCm39) |
T259A |
probably benign |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTTGTGTTCAGCTAAAGGTG -3'
(R):5'- CCACCACAAGTCTGGATCAG -3'
Sequencing Primer
(F):5'- TAAAGGTGGGCACTGCTCTCTC -3'
(R):5'- CCACAAGTCTGGATCAGCTTTAG -3'
|
Posted On |
2022-10-06 |