Incidental Mutation 'R9184:Jakmip2'
| ID |
697277 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jakmip2
|
| Ensembl Gene |
ENSMUSG00000024502 |
| Gene Name |
janus kinase and microtubule interacting protein 2 |
| Synonyms |
6430702L21Rik, D930046L20Rik |
| MMRRC Submission |
068979-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.293)
|
| Stock # |
R9184 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
43531408-43687773 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43582287 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 58
(I58T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082254]
|
| AlphaFold |
D3YXK0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082254
AA Change: I58T
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
AA Change: I58T
| 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 |
|
| Meta Mutation Damage Score |
0.0717 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
97% (60/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030452D12Rik |
T |
C |
8: 106,507,269 (GRCm38) |
V199A |
unknown |
Het |
| Abca7 |
A |
G |
10: 80,002,856 (GRCm38) |
H621R |
probably damaging |
Het |
| Adam18 |
T |
A |
8: 24,647,831 (GRCm38) |
N331I |
probably benign |
Het |
| Akt1 |
A |
G |
12: 112,654,718 (GRCm38) |
S475P |
possibly damaging |
Het |
| Arc |
A |
G |
15: 74,671,930 (GRCm38) |
V148A |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,241,857 (GRCm38) |
L21P |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,271,388 (GRCm38) |
L692S |
probably damaging |
Het |
| C1qtnf2 |
T |
C |
11: 43,474,353 (GRCm38) |
V25A |
probably benign |
Het |
| Cald1 |
G |
T |
6: 34,753,577 (GRCm38) |
E244D |
unknown |
Het |
| Cdc42bpa |
T |
A |
1: 180,144,736 (GRCm38) |
F1368I |
probably benign |
Het |
| Cfap61 |
G |
A |
2: 146,077,388 (GRCm38) |
C680Y |
probably null |
Het |
| Chd1 |
T |
A |
17: 15,742,289 (GRCm38) |
N769K |
possibly damaging |
Het |
| Clasp1 |
T |
A |
1: 118,543,178 (GRCm38) |
V848E |
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm38) |
|
probably benign |
Het |
| Ctsb |
G |
T |
14: 63,138,095 (GRCm38) |
G170V |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,340,406 (GRCm38) |
K2320E |
probably benign |
Het |
| Fat4 |
A |
T |
3: 38,982,443 (GRCm38) |
I3415F |
probably damaging |
Het |
| Fibcd1 |
A |
G |
2: 31,816,476 (GRCm38) |
S448P |
probably damaging |
Het |
| Filip1 |
T |
C |
9: 79,898,260 (GRCm38) |
K71E |
probably benign |
Het |
| Gad2 |
G |
A |
2: 22,668,319 (GRCm38) |
V350I |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,440,589 (GRCm38) |
S1032T |
possibly damaging |
Het |
| Glis3 |
T |
C |
19: 28,531,607 (GRCm38) |
T326A |
probably damaging |
Het |
| Hspa9 |
C |
T |
18: 34,949,115 (GRCm38) |
R146H |
possibly damaging |
Het |
| Kcnk15 |
G |
A |
2: 163,858,686 (GRCm38) |
V282M |
probably benign |
Het |
| Klk1b8 |
A |
G |
7: 43,952,734 (GRCm38) |
N30S |
probably benign |
Het |
| Lpin2 |
T |
A |
17: 71,233,916 (GRCm38) |
Y454* |
probably null |
Het |
| Mcam |
T |
C |
9: 44,135,248 (GRCm38) |
|
probably benign |
Het |
| Mms22l |
T |
C |
4: 24,596,182 (GRCm38) |
L1047S |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,328,755 (GRCm38) |
I81T |
possibly damaging |
Het |
| Neurod4 |
A |
T |
10: 130,271,089 (GRCm38) |
D105E |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,181,241 (GRCm38) |
L592P |
probably damaging |
Het |
| Nnt |
C |
A |
13: 119,381,734 (GRCm38) |
K302N |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,587,390 (GRCm38) |
F1767S |
probably damaging |
Het |
| Or4c103 |
C |
A |
2: 88,683,175 (GRCm38) |
A186S |
possibly damaging |
Het |
| Or4c58 |
T |
A |
2: 89,844,950 (GRCm38) |
I8F |
probably benign |
Het |
| Or7g16 |
T |
C |
9: 18,815,842 (GRCm38) |
I151V |
probably benign |
Het |
| Pcdhga4 |
A |
T |
18: 37,687,407 (GRCm38) |
I670F |
possibly damaging |
Het |
| Pdp1 |
T |
C |
4: 11,962,143 (GRCm38) |
E75G |
possibly damaging |
Het |
| Pds5b |
T |
A |
5: 150,800,784 (GRCm38) |
N1275K |
probably benign |
Het |
| Pink1 |
G |
T |
4: 138,321,010 (GRCm38) |
Q134K |
probably benign |
Het |
| Poli |
T |
A |
18: 70,509,179 (GRCm38) |
H650L |
probably damaging |
Het |
| Prickle2 |
G |
A |
6: 92,411,524 (GRCm38) |
P355L |
possibly damaging |
Het |
| Prkaca |
G |
A |
8: 83,990,676 (GRCm38) |
G194D |
probably benign |
Het |
| Ptgs2 |
A |
T |
1: 150,104,424 (GRCm38) |
Y371F |
probably damaging |
Het |
| Rarb |
C |
T |
14: 16,818,881 (GRCm38) |
|
probably benign |
Het |
| Rarb |
T |
A |
14: 16,818,882 (GRCm38) |
|
probably benign |
Het |
| Safb2 |
ACTTCTTCT |
ACTTCT |
17: 56,571,292 (GRCm38) |
|
probably benign |
Het |
| Serpinb1b |
T |
G |
13: 33,085,410 (GRCm38) |
V42G |
probably damaging |
Het |
| Sgsm2 |
T |
A |
11: 74,892,008 (GRCm38) |
I41F |
possibly damaging |
Het |
| Slc26a5 |
T |
A |
5: 21,813,882 (GRCm38) |
D653V |
probably damaging |
Het |
| Slc26a7 |
C |
T |
4: 14,506,630 (GRCm38) |
V602M |
possibly damaging |
Het |
| Slu7 |
T |
C |
11: 43,443,397 (GRCm38) |
S417P |
probably damaging |
Het |
| Smad2 |
T |
A |
18: 76,289,100 (GRCm38) |
D194E |
probably benign |
Het |
| Sntg1 |
A |
T |
1: 8,677,832 (GRCm38) |
V112E |
probably damaging |
Het |
| Strip1 |
A |
T |
3: 107,614,663 (GRCm38) |
M733K |
probably benign |
Het |
| Szt2 |
G |
A |
4: 118,384,529 (GRCm38) |
S1655L |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,769,605 (GRCm38) |
I19075N |
probably benign |
Het |
| Urb2 |
C |
T |
8: 124,045,151 (GRCm38) |
T1437I |
probably benign |
Het |
| Vmn2r111 |
T |
A |
17: 22,571,841 (GRCm38) |
I159F |
probably benign |
Het |
| Zfp78 |
T |
C |
7: 6,379,301 (GRCm38) |
V450A |
probably damaging |
Het |
| Zmynd11 |
T |
A |
13: 9,693,439 (GRCm38) |
H314L |
probably benign |
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 |
|
IGL02357: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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTTGAGTCTCTGAATCTCCC -3'
(R):5'- GCTTTAAGGCCCTGGCTTTC -3'
Sequencing Primer
(F):5'- GAGTCTCTGAATCTCCCCATCC -3'
(R):5'- CGGGAGTAAGCGTTTTCT -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation