Incidental Mutation 'R5753:Jakmip2'
| ID |
444922 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jakmip2
|
| Ensembl Gene |
ENSMUSG00000024502 |
| Gene Name |
janus kinase and microtubule interacting protein 2 |
| Synonyms |
6430702L21Rik, D930046L20Rik |
| MMRRC Submission |
043358-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.293)
|
| Stock # |
R5753 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
43531408-43687773 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43559116 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 585
(E585G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082254]
|
| AlphaFold |
D3YXK0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082254
AA Change: E585G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
AA Change: E585G
| 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 |
0.3152 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
97% (58/60) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
C |
T |
5: 87,972,515 (GRCm38) |
T377I |
probably damaging |
Het |
| Abcb1a |
A |
G |
5: 8,723,160 (GRCm38) |
D796G |
probably damaging |
Het |
| Actn3 |
T |
C |
19: 4,864,567 (GRCm38) |
|
probably null |
Het |
| Ada |
A |
T |
2: 163,735,398 (GRCm38) |
S57T |
probably benign |
Het |
| Adamts6 |
A |
G |
13: 104,347,350 (GRCm38) |
Y359C |
probably damaging |
Het |
| Adcy1 |
A |
T |
11: 7,130,300 (GRCm38) |
I348F |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 122,895,304 (GRCm38) |
E603G |
possibly damaging |
Het |
| Bcas3 |
A |
G |
11: 85,822,084 (GRCm38) |
|
probably benign |
Het |
| Cldn1 |
C |
A |
16: 26,363,121 (GRCm38) |
V113L |
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,634,625 (GRCm38) |
T540A |
probably benign |
Het |
| Erp27 |
A |
G |
6: 136,919,877 (GRCm38) |
F109S |
probably damaging |
Het |
| F13a1 |
G |
A |
13: 36,898,108 (GRCm38) |
Q541* |
probably null |
Het |
| Fam124a |
T |
C |
14: 62,606,539 (GRCm38) |
S499P |
probably benign |
Het |
| Fgd3 |
T |
A |
13: 49,274,940 (GRCm38) |
E486V |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,433,489 (GRCm38) |
S11P |
probably benign |
Het |
| Gm12508 |
C |
A |
4: 55,254,787 (GRCm38) |
|
noncoding transcript |
Het |
| Grk2 |
C |
T |
19: 4,290,468 (GRCm38) |
R295H |
probably damaging |
Het |
| Gtf2ird1 |
A |
G |
5: 134,410,983 (GRCm38) |
M131T |
probably damaging |
Het |
| Hist1h4d |
G |
A |
13: 23,581,604 (GRCm38) |
M1I |
probably null |
Het |
| Itpripl2 |
A |
G |
7: 118,491,009 (GRCm38) |
V109A |
probably damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,331,404 (GRCm38) |
I593F |
possibly damaging |
Het |
| Lgr4 |
C |
T |
2: 110,002,512 (GRCm38) |
Q316* |
probably null |
Het |
| Mcf2l |
T |
C |
8: 12,999,993 (GRCm38) |
F305S |
probably damaging |
Het |
| Nos1ap |
T |
A |
1: 170,349,399 (GRCm38) |
K145M |
probably damaging |
Het |
| Olfr1143 |
A |
T |
2: 87,803,252 (GRCm38) |
M288L |
probably benign |
Het |
| Olfr1264 |
T |
C |
2: 90,021,503 (GRCm38) |
T188A |
possibly damaging |
Het |
| Olfr1301 |
T |
A |
2: 111,754,801 (GRCm38) |
I184K |
possibly damaging |
Het |
| Olfr19 |
A |
T |
16: 16,673,620 (GRCm38) |
Y120* |
probably null |
Het |
| Olfr64 |
A |
G |
7: 103,893,201 (GRCm38) |
L178P |
probably damaging |
Het |
| Olfr73 |
G |
A |
2: 88,034,576 (GRCm38) |
L188F |
probably damaging |
Het |
| Olfr735 |
T |
A |
14: 50,345,588 (GRCm38) |
T285S |
probably damaging |
Het |
| Pcdh9 |
T |
A |
14: 93,888,161 (GRCm38) |
D191V |
probably damaging |
Het |
| Pde4d |
T |
A |
13: 109,772,722 (GRCm38) |
|
probably benign |
Het |
| Phkb |
C |
T |
8: 85,878,230 (GRCm38) |
A88V |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,173,420 (GRCm38) |
S4128P |
probably damaging |
Het |
| Plekha5 |
A |
T |
6: 140,537,004 (GRCm38) |
|
probably null |
Het |
| Rgs13 |
A |
C |
1: 144,140,740 (GRCm38) |
N88K |
probably benign |
Het |
| Rho |
T |
A |
6: 115,935,487 (GRCm38) |
I104N |
probably damaging |
Het |
| Rnps1 |
T |
C |
17: 24,418,164 (GRCm38) |
|
probably benign |
Het |
| Slc10a7 |
G |
T |
8: 78,525,299 (GRCm38) |
|
probably null |
Het |
| Slc39a7 |
C |
T |
17: 34,030,176 (GRCm38) |
R246K |
probably damaging |
Het |
| Sort1 |
G |
C |
3: 108,345,774 (GRCm38) |
G510A |
probably damaging |
Het |
| Spag6l |
A |
G |
16: 16,766,967 (GRCm38) |
|
probably null |
Het |
| Sync |
T |
A |
4: 129,293,386 (GRCm38) |
Y70* |
probably null |
Het |
| Tex45 |
A |
T |
8: 3,484,112 (GRCm38) |
I350L |
probably benign |
Het |
| Timm8a2 |
T |
C |
14: 122,034,877 (GRCm38) |
V64A |
probably benign |
Het |
| Tnfrsf11b |
C |
A |
15: 54,254,059 (GRCm38) |
V267L |
possibly damaging |
Het |
| Trim30b |
A |
G |
7: 104,357,337 (GRCm38) |
V104A |
possibly damaging |
Het |
| Tusc3 |
T |
C |
8: 39,096,946 (GRCm38) |
S244P |
probably damaging |
Het |
| Usp16 |
T |
A |
16: 87,482,899 (GRCm38) |
Y746N |
probably damaging |
Het |
| Vax1 |
G |
T |
19: 59,166,382 (GRCm38) |
H274Q |
probably benign |
Het |
| Vmn2r108 |
A |
G |
17: 20,462,917 (GRCm38) |
V675A |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,091,804 (GRCm38) |
W298R |
probably damaging |
Het |
| Zfp948 |
A |
G |
17: 21,586,894 (GRCm38) |
N116S |
probably damaging |
Het |
| Zkscan2 |
A |
G |
7: 123,480,700 (GRCm38) |
V678A |
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 |
|
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 |
|
R9184:Jakmip2
|
UTSW |
18 |
43,582,287 (GRCm38) |
missense |
probably benign |
0.34 |
|
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'- CATGAGGACAGTCTGAAGCTTC -3'
(R):5'- ACCTTGTTCACTGAGTGGATG -3'
Sequencing Primer
(F):5'- CATTACTAGACAGATACATGGCGTAG -3'
(R):5'- GGATGATTTGCAACCACATCCATGG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation