Incidental Mutation 'R7103:Jakmip2'
| ID |
568421 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jakmip2
|
| Ensembl Gene |
ENSMUSG00000024502 |
| Gene Name |
janus kinase and microtubule interacting protein 2 |
| Synonyms |
6430702L21Rik, D930046L20Rik |
| MMRRC Submission |
045195-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R7103 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
43664472-43820838 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 43673648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082254]
|
| AlphaFold |
D3YXK0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000082254
|
| SMART Domains |
Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (61/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
A |
G |
11: 50,628,181 (GRCm39) |
T294A |
probably damaging |
Het |
| Adamtsl2 |
G |
A |
2: 26,997,473 (GRCm39) |
V893I |
probably damaging |
Het |
| Amph |
T |
A |
13: 19,333,908 (GRCm39) |
D656E |
probably benign |
Het |
| Aoah |
T |
C |
13: 21,207,485 (GRCm39) |
F568S |
probably damaging |
Het |
| Atr |
G |
A |
9: 95,747,425 (GRCm39) |
G236S |
probably damaging |
Het |
| Brd3 |
T |
A |
2: 27,340,406 (GRCm39) |
Q601L |
probably damaging |
Het |
| Ccar2 |
T |
C |
14: 70,379,426 (GRCm39) |
E524G |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,267,853 (GRCm39) |
|
probably null |
Het |
| Csnka2ip |
C |
A |
16: 64,299,120 (GRCm39) |
V415F |
unknown |
Het |
| Dmp1 |
A |
T |
5: 104,359,729 (GRCm39) |
D135V |
probably damaging |
Het |
| Dtna |
T |
C |
18: 23,786,436 (GRCm39) |
|
probably null |
Het |
| Endou |
A |
G |
15: 97,616,810 (GRCm39) |
S238P |
probably damaging |
Het |
| Ep400 |
T |
A |
5: 110,881,651 (GRCm39) |
E779D |
unknown |
Het |
| Fcgbp |
A |
G |
7: 27,784,387 (GRCm39) |
E149G |
probably benign |
Het |
| G6pc1 |
C |
A |
11: 101,265,413 (GRCm39) |
|
probably null |
Het |
| Gmeb1 |
T |
C |
4: 131,962,179 (GRCm39) |
H160R |
probably damaging |
Het |
| Gramd1b |
T |
C |
9: 40,312,902 (GRCm39) |
Y22C |
unknown |
Het |
| Hcrtr2 |
C |
T |
9: 76,161,793 (GRCm39) |
G199D |
probably benign |
Het |
| Hoxb2 |
T |
C |
11: 96,244,447 (GRCm39) |
F353L |
possibly damaging |
Het |
| Itpr2 |
C |
A |
6: 146,226,572 (GRCm39) |
V1391F |
probably damaging |
Het |
| Kcnmb4 |
T |
C |
10: 116,309,164 (GRCm39) |
Y88C |
possibly damaging |
Het |
| Kif1a |
T |
C |
1: 93,005,507 (GRCm39) |
Y89C |
probably damaging |
Het |
| Kif23 |
T |
A |
9: 61,827,174 (GRCm39) |
K892N |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,664,936 (GRCm39) |
S646T |
probably benign |
Het |
| Lig3 |
T |
A |
11: 82,688,138 (GRCm39) |
M709K |
probably benign |
Het |
| Mindy3 |
C |
A |
2: 12,405,885 (GRCm39) |
A137S |
possibly damaging |
Het |
| Mis18bp1 |
T |
C |
12: 65,196,057 (GRCm39) |
E569G |
possibly damaging |
Het |
| Misp |
T |
A |
10: 79,662,999 (GRCm39) |
L472Q |
probably damaging |
Het |
| Mrps5 |
A |
T |
2: 127,443,330 (GRCm39) |
T303S |
probably damaging |
Het |
| Msh3 |
T |
G |
13: 92,411,308 (GRCm39) |
I630L |
probably benign |
Het |
| Muc21 |
C |
A |
17: 35,932,432 (GRCm39) |
A585S |
unknown |
Het |
| Myo16 |
A |
G |
8: 10,619,673 (GRCm39) |
Y1408C |
unknown |
Het |
| N4bp2 |
T |
C |
5: 65,964,189 (GRCm39) |
V746A |
probably benign |
Het |
| Oga |
G |
A |
19: 45,771,605 (GRCm39) |
|
probably benign |
Het |
| Or4c120 |
A |
G |
2: 89,000,827 (GRCm39) |
I243T |
possibly damaging |
Het |
| Or4d11 |
A |
G |
19: 12,013,752 (GRCm39) |
M118T |
probably damaging |
Het |
| Or5p56 |
A |
G |
7: 107,589,805 (GRCm39) |
T78A |
possibly damaging |
Het |
| Ostf1 |
C |
T |
19: 18,573,715 (GRCm39) |
M44I |
probably null |
Het |
| Pik3c2b |
T |
G |
1: 133,033,712 (GRCm39) |
L1572R |
probably damaging |
Het |
| Pilra |
T |
C |
5: 137,829,488 (GRCm39) |
D192G |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,437,027 (GRCm39) |
I3462V |
probably benign |
Het |
| Plekhh1 |
A |
G |
12: 79,113,429 (GRCm39) |
D619G |
probably benign |
Het |
| Pramel31 |
C |
T |
4: 144,090,297 (GRCm39) |
R446C |
probably benign |
Het |
| Ptprb |
T |
A |
10: 116,174,718 (GRCm39) |
Y797N |
probably damaging |
Het |
| Rb1 |
T |
C |
14: 73,500,084 (GRCm39) |
D521G |
probably damaging |
Het |
| Rnf17 |
T |
G |
14: 56,708,763 (GRCm39) |
F728V |
possibly damaging |
Het |
| Slc16a4 |
T |
C |
3: 107,218,787 (GRCm39) |
S463P |
probably damaging |
Het |
| Slc4a1 |
A |
T |
11: 102,244,693 (GRCm39) |
I634K |
probably damaging |
Het |
| Slc4a1ap |
T |
C |
5: 31,701,201 (GRCm39) |
V634A |
probably benign |
Het |
| Spam1 |
A |
G |
6: 24,800,583 (GRCm39) |
M441V |
probably benign |
Het |
| Teddm3 |
A |
C |
16: 20,971,729 (GRCm39) |
L280* |
probably null |
Het |
| Tmem231 |
T |
C |
8: 112,645,517 (GRCm39) |
|
probably null |
Het |
| Tom1l1 |
T |
C |
11: 90,561,907 (GRCm39) |
|
probably null |
Het |
| Topors |
C |
T |
4: 40,261,706 (GRCm39) |
G526D |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,790,911 (GRCm39) |
I649F |
possibly damaging |
Het |
| Ttc16 |
T |
A |
2: 32,664,440 (GRCm39) |
M66L |
probably benign |
Het |
| Tubgcp6 |
A |
G |
15: 88,985,232 (GRCm39) |
F1619L |
probably damaging |
Het |
| Vps13d |
G |
T |
4: 144,842,062 (GRCm39) |
A2619E |
|
Het |
| Vps8 |
G |
A |
16: 21,345,191 (GRCm39) |
R838H |
probably damaging |
Het |
| Vwde |
T |
A |
6: 13,215,799 (GRCm39) |
M86L |
probably benign |
Het |
| Zfp64 |
A |
T |
2: 168,768,357 (GRCm39) |
D418E |
probably benign |
Het |
| Zfp952 |
C |
T |
17: 33,222,606 (GRCm39) |
P362S |
possibly damaging |
Het |
| Zglp1 |
T |
C |
9: 20,977,368 (GRCm39) |
E149G |
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 |
|
|
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'- AAAATTCCAAGGCTGCGGATG -3'
(R):5'- ACATGCAGAAACCCTATAGATGAG -3'
Sequencing Primer
(F):5'- ACATCTGCCTGTTCCAGA -3'
(R):5'- TTCCACTCACTGGGACCTAACAAATG -3'
|
| Posted On |
2019-07-17 |
Incidental Mutation