Incidental Mutation 'R5381:Jakmip2'
| ID |
424759 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jakmip2
|
| Ensembl Gene |
ENSMUSG00000024502 |
| Gene Name |
janus kinase and microtubule interacting protein 2 |
| Synonyms |
6430702L21Rik, D930046L20Rik |
| MMRRC Submission |
042956-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R5381 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
43664472-43820838 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43715025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 167
(D167G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082254]
|
| AlphaFold |
D3YXK0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082254
AA Change: D167G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
AA Change: D167G
| 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 |
0.0937 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (74/74) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700086D15Rik |
G |
T |
11: 65,044,137 (GRCm39) |
S19* |
probably null |
Het |
| 4930432E11Rik |
A |
T |
7: 29,262,393 (GRCm39) |
|
noncoding transcript |
Het |
| Acvr1c |
T |
C |
2: 58,177,747 (GRCm39) |
T241A |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,804,284 (GRCm39) |
T900A |
probably benign |
Het |
| Anp32a |
A |
C |
9: 62,279,459 (GRCm39) |
E107A |
probably damaging |
Het |
| Arhgef40 |
T |
C |
14: 52,229,306 (GRCm39) |
I623T |
probably damaging |
Het |
| Camsap3 |
T |
A |
8: 3,653,812 (GRCm39) |
I483N |
probably damaging |
Het |
| Card9 |
G |
A |
2: 26,248,895 (GRCm39) |
L85F |
probably damaging |
Het |
| Cbfa2t2 |
T |
G |
2: 154,365,849 (GRCm39) |
V353G |
probably damaging |
Het |
| Ccdc166 |
A |
T |
15: 75,852,701 (GRCm39) |
L422* |
probably null |
Het |
| Ccdc198 |
T |
C |
14: 49,470,364 (GRCm39) |
D185G |
probably damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,820,270 (GRCm39) |
N416Y |
probably damaging |
Het |
| Celsr2 |
A |
T |
3: 108,310,073 (GRCm39) |
D1552E |
probably damaging |
Het |
| Ces1b |
A |
T |
8: 93,791,647 (GRCm39) |
N317K |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,703,334 (GRCm39) |
R2471G |
unknown |
Het |
| Crocc |
C |
T |
4: 140,756,622 (GRCm39) |
R1165H |
possibly damaging |
Het |
| Csmd3 |
T |
A |
15: 47,604,611 (GRCm39) |
Y1955F |
probably benign |
Het |
| Ctbp1 |
A |
T |
5: 33,407,034 (GRCm39) |
D232E |
probably benign |
Het |
| Cuedc1 |
T |
A |
11: 88,078,812 (GRCm39) |
|
probably null |
Het |
| Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
| Dusp6 |
G |
A |
10: 99,102,129 (GRCm39) |
V226I |
possibly damaging |
Het |
| Gpr152 |
A |
G |
19: 4,192,516 (GRCm39) |
E19G |
probably damaging |
Het |
| Ighv16-1 |
T |
C |
12: 114,032,593 (GRCm39) |
T70A |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Il12b |
C |
A |
11: 44,298,699 (GRCm39) |
D51E |
possibly damaging |
Het |
| Il9r |
T |
G |
11: 32,140,715 (GRCm39) |
D435A |
probably benign |
Het |
| Klrd1 |
A |
G |
6: 129,572,397 (GRCm39) |
D63G |
possibly damaging |
Het |
| Lactb |
A |
G |
9: 66,863,297 (GRCm39) |
L439P |
probably damaging |
Het |
| Laptm5 |
T |
C |
4: 130,660,969 (GRCm39) |
|
probably benign |
Het |
| Lgals1 |
A |
G |
15: 78,814,223 (GRCm39) |
D96G |
probably benign |
Het |
| Lrp8 |
A |
T |
4: 107,726,307 (GRCm39) |
H871L |
probably damaging |
Het |
| Mfap4 |
A |
T |
11: 61,378,756 (GRCm39) |
I235F |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,217,836 (GRCm39) |
T2279I |
possibly damaging |
Het |
| Nlrp4b |
T |
A |
7: 10,449,172 (GRCm39) |
Y91* |
probably null |
Het |
| Osbp2 |
A |
G |
11: 3,655,593 (GRCm39) |
Y383H |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Palb2 |
G |
T |
7: 121,727,636 (GRCm39) |
T78K |
probably benign |
Het |
| Panx2 |
G |
T |
15: 88,944,433 (GRCm39) |
V53L |
probably damaging |
Het |
| Pip4p1 |
T |
C |
14: 51,166,495 (GRCm39) |
E161G |
probably benign |
Het |
| Pitx1 |
T |
C |
13: 55,973,892 (GRCm39) |
Y313C |
probably damaging |
Het |
| Pjvk |
A |
G |
2: 76,481,904 (GRCm39) |
|
probably null |
Het |
| Pnldc1 |
T |
G |
17: 13,109,283 (GRCm39) |
K439T |
probably benign |
Het |
| Ppp4r4 |
A |
C |
12: 103,559,357 (GRCm39) |
T513P |
probably benign |
Het |
| Pram1 |
A |
T |
17: 33,860,600 (GRCm39) |
Q389L |
probably damaging |
Het |
| Prg4 |
T |
C |
1: 150,330,204 (GRCm39) |
|
probably benign |
Het |
| Prkch |
C |
A |
12: 73,738,366 (GRCm39) |
R158S |
probably damaging |
Het |
| Ptpn7 |
A |
T |
1: 135,070,906 (GRCm39) |
M332L |
probably damaging |
Het |
| Rad51c |
A |
T |
11: 87,288,459 (GRCm39) |
D241E |
probably benign |
Het |
| Rara |
T |
G |
11: 98,862,410 (GRCm39) |
I270M |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,571,544 (GRCm39) |
D4898V |
probably damaging |
Het |
| Sec31b |
C |
T |
19: 44,522,810 (GRCm39) |
G218S |
probably damaging |
Het |
| Slc9a1 |
T |
A |
4: 133,149,382 (GRCm39) |
L736Q |
probably damaging |
Het |
| Slco2a1 |
A |
T |
9: 102,945,213 (GRCm39) |
D196V |
probably damaging |
Het |
| Sp3 |
C |
A |
2: 72,800,910 (GRCm39) |
A368S |
probably benign |
Het |
| Stk24 |
A |
T |
14: 121,531,645 (GRCm39) |
L337Q |
possibly damaging |
Het |
| Tbc1d13 |
A |
G |
2: 30,027,379 (GRCm39) |
T96A |
probably benign |
Het |
| Tm2d3 |
G |
A |
7: 65,351,420 (GRCm39) |
G225S |
probably damaging |
Het |
| Urb2 |
T |
C |
8: 124,756,651 (GRCm39) |
V786A |
probably benign |
Het |
| Usp32 |
C |
T |
11: 84,949,953 (GRCm39) |
|
probably benign |
Het |
| Usp54 |
C |
T |
14: 20,636,144 (GRCm39) |
G300D |
probably damaging |
Het |
| Vmn1r124 |
T |
A |
7: 20,994,323 (GRCm39) |
N74Y |
probably damaging |
Het |
| Vmn1r77 |
T |
A |
7: 11,775,952 (GRCm39) |
C175S |
probably damaging |
Het |
| Vmn2r62 |
G |
T |
7: 42,437,219 (GRCm39) |
Q422K |
probably benign |
Het |
| Vmn2r76 |
A |
G |
7: 85,874,496 (GRCm39) |
F827S |
probably damaging |
Het |
| Vps52 |
A |
G |
17: 34,177,275 (GRCm39) |
S106G |
possibly damaging |
Het |
| Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
| Zic2 |
A |
G |
14: 122,713,227 (GRCm39) |
N47S |
probably 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 |
|
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 |
|
|
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'- TACCTTGCGCTTCCAACAGC -3'
(R):5'- ATTCAGAGACTCAAGTCCGCG -3'
Sequencing Primer
(F):5'- GTTTTGTTTATGGTAACCGACAAG -3'
(R):5'- AGACTCAAGTCCGCGCTGTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation