Incidental Mutation 'R5883:Jakmip2'
| ID |
454542 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jakmip2
|
| Ensembl Gene |
ENSMUSG00000024502 |
| Gene Name |
janus kinase and microtubule interacting protein 2 |
| Synonyms |
6430702L21Rik, D930046L20Rik |
| MMRRC Submission |
044086-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R5883 (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 43715059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 156
(I156V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082254]
|
| AlphaFold |
D3YXK0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000082254
AA Change: I156V
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
AA Change: I156V
| 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 |
0.0673 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 95.9%
- 20x: 83.7%
|
| Validation Efficiency |
100% (70/70) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
G |
A |
8: 120,872,380 (GRCm39) |
V103I |
possibly damaging |
Het |
| Aass |
G |
A |
6: 23,072,993 (GRCm39) |
T920I |
probably benign |
Het |
| Akirin2 |
A |
G |
4: 34,565,256 (GRCm39) |
I168V |
possibly damaging |
Het |
| Ambn |
T |
A |
5: 88,615,688 (GRCm39) |
Y372* |
probably null |
Het |
| Ano3 |
T |
A |
2: 110,711,209 (GRCm39) |
E85V |
probably null |
Het |
| Bmf |
C |
T |
2: 118,377,447 (GRCm39) |
|
silent |
Het |
| Bmper |
T |
A |
9: 23,317,970 (GRCm39) |
S530T |
probably benign |
Het |
| Bop1 |
T |
C |
15: 76,339,049 (GRCm39) |
D383G |
probably damaging |
Het |
| Bub1b |
T |
A |
2: 118,440,363 (GRCm39) |
Y156N |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,595,896 (GRCm39) |
V1987A |
probably benign |
Het |
| Cd84 |
T |
C |
1: 171,700,405 (GRCm39) |
V174A |
possibly damaging |
Het |
| Cep290 |
T |
A |
10: 100,359,261 (GRCm39) |
L997Q |
probably benign |
Het |
| Chil4 |
C |
T |
3: 106,117,886 (GRCm39) |
R128H |
possibly damaging |
Het |
| Cpne3 |
A |
T |
4: 19,552,314 (GRCm39) |
V106D |
possibly damaging |
Het |
| D6Wsu163e |
A |
G |
6: 126,943,879 (GRCm39) |
E425G |
probably damaging |
Het |
| Dlgap1 |
A |
T |
17: 70,824,008 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
C |
A |
7: 105,369,711 (GRCm39) |
H4379N |
probably damaging |
Het |
| Gm10309 |
A |
G |
17: 86,806,185 (GRCm39) |
|
probably benign |
Het |
| Gm6264 |
G |
A |
1: 85,148,903 (GRCm39) |
|
probably benign |
Het |
| Has2 |
T |
A |
15: 56,531,459 (GRCm39) |
I419F |
possibly damaging |
Het |
| Hscb |
A |
G |
5: 110,987,444 (GRCm39) |
C51R |
probably benign |
Het |
| Ighv1-61 |
T |
C |
12: 115,323,183 (GRCm39) |
S4G |
probably benign |
Het |
| Islr2 |
G |
T |
9: 58,105,998 (GRCm39) |
Q465K |
probably benign |
Het |
| Klk1b24 |
A |
G |
7: 43,839,787 (GRCm39) |
I49V |
probably benign |
Het |
| Krt90 |
C |
T |
15: 101,461,654 (GRCm39) |
|
probably benign |
Het |
| Larp1 |
C |
T |
11: 57,933,125 (GRCm39) |
S243F |
probably damaging |
Het |
| Lrp4 |
T |
C |
2: 91,318,778 (GRCm39) |
Y872H |
probably benign |
Het |
| Maip1 |
T |
C |
1: 57,446,260 (GRCm39) |
M110T |
probably damaging |
Het |
| Marchf7 |
G |
A |
2: 60,064,786 (GRCm39) |
R354Q |
probably damaging |
Het |
| Med12l |
G |
T |
3: 58,998,889 (GRCm39) |
E605D |
probably damaging |
Het |
| Nt5c1a |
T |
A |
4: 123,110,049 (GRCm39) |
|
probably null |
Het |
| Or2j6 |
T |
A |
7: 139,980,101 (GRCm39) |
Y286F |
probably damaging |
Het |
| Or5ac25 |
A |
T |
16: 59,182,078 (GRCm39) |
C168S |
probably damaging |
Het |
| Or5p66 |
C |
T |
7: 107,885,451 (GRCm39) |
S294N |
probably damaging |
Het |
| Pdzd9 |
T |
A |
7: 120,267,776 (GRCm39) |
E13V |
possibly damaging |
Het |
| Ppip5k2 |
C |
T |
1: 97,635,535 (GRCm39) |
A1100T |
possibly damaging |
Het |
| Prkdc |
C |
A |
16: 15,533,778 (GRCm39) |
Q1539K |
probably benign |
Het |
| Rad54l |
C |
G |
4: 115,956,243 (GRCm39) |
|
probably benign |
Het |
| Ric1 |
T |
A |
19: 29,573,389 (GRCm39) |
I943N |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 51,995,651 (GRCm39) |
|
probably null |
Het |
| Rpl12 |
T |
C |
2: 32,852,536 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,860,637 (GRCm39) |
|
probably benign |
Het |
| Scarb1 |
C |
A |
5: 125,417,971 (GRCm39) |
|
probably benign |
Het |
| Sox10 |
T |
C |
15: 79,040,463 (GRCm39) |
E359G |
probably damaging |
Het |
| Taf5 |
A |
G |
19: 47,056,228 (GRCm39) |
T9A |
unknown |
Het |
| Tmem128 |
C |
T |
5: 38,423,885 (GRCm39) |
A33V |
possibly damaging |
Het |
| Tox |
A |
C |
4: 6,697,444 (GRCm39) |
V453G |
probably benign |
Het |
| Ubxn4 |
T |
A |
1: 128,183,867 (GRCm39) |
C76S |
probably damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,743,786 (GRCm39) |
Y483F |
probably benign |
Het |
| Xkr5 |
A |
G |
8: 18,990,806 (GRCm39) |
S154P |
probably damaging |
Het |
| Zfp687 |
T |
C |
3: 94,919,355 (GRCm39) |
N139S |
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 |
|
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'- GTACTAACCAGCCTCCGTATATC -3'
(R):5'- TAAAGCCAAGCTCCACGAGG -3'
Sequencing Primer
(F):5'- AGCCTCCGTATATCCCGTTCG -3'
(R):5'- CGTGAGGGAGAATCTCATCAAAC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation