Incidental Mutation 'R6261:Jakmip2'
ID |
506730 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Jakmip2
|
Ensembl Gene |
ENSMUSG00000024502 |
Gene Name |
janus kinase and microtubule interacting protein 2 |
Synonyms |
6430702L21Rik, D930046L20Rik |
MMRRC Submission |
044404-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.316)
|
Stock # |
R6261 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
43664472-43820838 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43708599 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 288
(I288T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080881
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082254]
|
AlphaFold |
D3YXK0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000082254
AA Change: I288T
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000080881 Gene: ENSMUSG00000024502 AA Change: I288T
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 |
0.0683 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
Validation Efficiency |
100% (65/65) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot8 |
T |
C |
2: 164,636,979 (GRCm39) |
D257G |
probably damaging |
Het |
Adamtsl1 |
T |
C |
4: 86,255,115 (GRCm39) |
V736A |
probably benign |
Het |
Anln |
A |
G |
9: 22,275,342 (GRCm39) |
L521S |
probably damaging |
Het |
Arfgap2 |
T |
G |
2: 91,100,627 (GRCm39) |
S311A |
probably benign |
Het |
Brdt |
A |
T |
5: 107,496,369 (GRCm39) |
E160D |
probably benign |
Het |
Ccdc187 |
A |
G |
2: 26,166,215 (GRCm39) |
I738T |
probably damaging |
Het |
Cd59a |
G |
C |
2: 103,934,550 (GRCm39) |
G6A |
probably damaging |
Het |
Cd5l |
C |
T |
3: 87,275,915 (GRCm39) |
P295L |
probably benign |
Het |
Cdhr17 |
T |
C |
5: 17,017,183 (GRCm39) |
|
noncoding transcript |
Het |
Cnot1 |
A |
G |
8: 96,468,549 (GRCm39) |
S1432P |
probably benign |
Het |
Cnot8 |
T |
A |
11: 58,004,877 (GRCm39) |
I192N |
probably damaging |
Het |
Col4a1 |
G |
T |
8: 11,257,409 (GRCm39) |
|
probably null |
Het |
Cuta |
A |
G |
17: 27,158,301 (GRCm39) |
L11P |
possibly damaging |
Het |
Cyp2c39 |
G |
A |
19: 39,556,463 (GRCm39) |
R433H |
probably damaging |
Het |
Cyp4a12b |
T |
A |
4: 115,271,740 (GRCm39) |
Y150* |
probably null |
Het |
Dcaf15 |
G |
A |
8: 84,825,734 (GRCm39) |
A291V |
probably benign |
Het |
Dcstamp |
A |
T |
15: 39,618,131 (GRCm39) |
H180L |
possibly damaging |
Het |
Egfr |
A |
G |
11: 16,839,964 (GRCm39) |
I659M |
probably benign |
Het |
Fzd8 |
A |
G |
18: 9,214,598 (GRCm39) |
E560G |
possibly damaging |
Het |
Gm5111 |
A |
T |
6: 48,566,526 (GRCm39) |
|
probably benign |
Het |
Gm7945 |
T |
C |
14: 41,104,780 (GRCm39) |
T214A |
unknown |
Het |
Gpi1 |
T |
C |
7: 33,920,170 (GRCm39) |
T168A |
possibly damaging |
Het |
Gys2 |
T |
C |
6: 142,405,134 (GRCm39) |
I218V |
probably benign |
Het |
Gzmf |
T |
A |
14: 56,443,949 (GRCm39) |
I74L |
probably benign |
Het |
Hacl1 |
G |
A |
14: 31,357,728 (GRCm39) |
A70V |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,846,820 (GRCm39) |
L3590* |
probably null |
Het |
Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
Igfals |
G |
T |
17: 25,100,339 (GRCm39) |
V477F |
possibly damaging |
Het |
Igkv8-28 |
A |
T |
6: 70,120,874 (GRCm39) |
V23E |
probably benign |
Het |
Isg20l2 |
T |
A |
3: 87,839,395 (GRCm39) |
V202E |
probably damaging |
Het |
Kansl3 |
A |
G |
1: 36,404,686 (GRCm39) |
V88A |
probably benign |
Het |
Kcna3 |
A |
G |
3: 106,945,266 (GRCm39) |
T510A |
possibly damaging |
Het |
Map2k5 |
G |
T |
9: 63,245,380 (GRCm39) |
L140I |
probably benign |
Het |
Map3k19 |
A |
G |
1: 127,750,336 (GRCm39) |
I1005T |
possibly damaging |
Het |
Mmp25 |
G |
A |
17: 23,849,768 (GRCm39) |
A541V |
possibly damaging |
Het |
Ms4a14 |
T |
A |
19: 11,281,384 (GRCm39) |
E391D |
probably benign |
Het |
Mtrf1l |
A |
G |
10: 5,765,550 (GRCm39) |
|
probably null |
Het |
Myom1 |
A |
G |
17: 71,433,132 (GRCm39) |
N1591S |
probably damaging |
Het |
Nos1 |
G |
A |
5: 118,074,635 (GRCm39) |
V1060M |
probably benign |
Het |
Nsun5 |
C |
T |
5: 135,400,385 (GRCm39) |
T142M |
probably damaging |
Het |
Odc1 |
A |
G |
12: 17,600,655 (GRCm39) |
E430G |
probably benign |
Het |
Or8g36 |
C |
A |
9: 39,422,105 (GRCm39) |
V304F |
probably benign |
Het |
P2ry12 |
T |
C |
3: 59,125,328 (GRCm39) |
I116V |
probably null |
Het |
Patl1 |
T |
A |
19: 11,897,695 (GRCm39) |
V94E |
probably damaging |
Het |
Plin3 |
A |
T |
17: 56,588,488 (GRCm39) |
Y255* |
probably null |
Het |
Pou6f1 |
T |
C |
15: 100,477,827 (GRCm39) |
T439A |
probably damaging |
Het |
Prdm13 |
T |
C |
4: 21,678,366 (GRCm39) |
K708R |
probably damaging |
Het |
Prr14l |
A |
G |
5: 32,986,748 (GRCm39) |
S916P |
possibly damaging |
Het |
Rab34 |
T |
A |
11: 78,082,028 (GRCm39) |
|
probably null |
Het |
Rps7 |
A |
G |
12: 28,685,593 (GRCm39) |
S21P |
possibly damaging |
Het |
Scn9a |
A |
T |
2: 66,314,240 (GRCm39) |
L1815Q |
probably damaging |
Het |
Sesn3 |
A |
G |
9: 14,232,459 (GRCm39) |
Y244C |
probably benign |
Het |
Slc15a2 |
A |
G |
16: 36,581,973 (GRCm39) |
F284L |
probably benign |
Het |
Slc25a44 |
C |
T |
3: 88,328,218 (GRCm39) |
G72D |
probably damaging |
Het |
Slco6d1 |
A |
G |
1: 98,427,588 (GRCm39) |
T640A |
probably benign |
Het |
Sspo |
A |
T |
6: 48,439,125 (GRCm39) |
E1591V |
possibly damaging |
Het |
Tbata |
C |
A |
10: 61,011,644 (GRCm39) |
T60K |
possibly damaging |
Het |
Tbc1d2 |
T |
A |
4: 46,637,692 (GRCm39) |
T185S |
possibly damaging |
Het |
Tlcd4 |
T |
A |
3: 121,028,708 (GRCm39) |
I60F |
possibly damaging |
Het |
Tmem87a |
A |
G |
2: 120,234,502 (GRCm39) |
S14P |
possibly damaging |
Het |
Tnnt2 |
C |
A |
1: 135,778,292 (GRCm39) |
|
probably null |
Het |
Trex1 |
A |
G |
9: 108,887,709 (GRCm39) |
V94A |
probably benign |
Het |
Ubtfl1 |
A |
C |
9: 18,320,592 (GRCm39) |
D40A |
possibly damaging |
Het |
Zc3hav1 |
A |
T |
6: 38,309,935 (GRCm39) |
Y296N |
probably benign |
Het |
Zfp521 |
T |
A |
18: 13,977,684 (GRCm39) |
N910Y |
probably damaging |
Het |
Zfp53 |
A |
G |
17: 21,728,975 (GRCm39) |
E336G |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TATGTGGGGCAGCCACTTTG -3'
(R):5'- TAGCCAAGAGAGGTCTTTACTCAG -3'
Sequencing Primer
(F):5'- ATACTATACTTTTGTTACCTGCTCGC -3'
(R):5'- GGAGTAAATGCTGAGAGTTAGAAAG -3'
|
Posted On |
2018-03-15 |