Incidental Mutation 'R3026:Mapk8ip2'
| ID |
265829 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapk8ip2
|
| Ensembl Gene |
ENSMUSG00000022619 |
| Gene Name |
mitogen-activated protein kinase 8 interacting protein 2 |
| Synonyms |
JNK-interacting protein, 3230402N03Rik, Jip2, IB2 |
| MMRRC Submission |
040542-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.573)
|
| Stock # |
R3026 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
89338114-89346650 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89345649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 803
(A803V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023291]
[ENSMUST00000137755]
|
| AlphaFold |
Q9ERE9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023291
AA Change: A803V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023291
Gene: ENSMUSG00000022619
AA Change: A803V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
419 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
472 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
598 |
N/A |
INTRINSIC |
|
SH3
|
613 |
670 |
2.24e-10 |
SMART |
|
PTB
|
684 |
823 |
1.19e-38 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137755
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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 closely related to MAPK8IP1/IB1/JIP-1, a scaffold protein that is involved in the c-Jun amino-terminal kinase signaling pathway. This protein is expressed in brain and pancreatic cells. It has been shown to interact with, and regulate the activity of MAPK8/JNK1, and MAP2K7/MKK7 kinases. This protein thus is thought to function as a regulator of signal transduction by protein kinase cascade in brain and pancreatic beta-cells. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a null allele are smaller in size and exhibit male infertility. Mice homozygous for a different knock-out allele exhibit behavioral and cerebellar transmission deficits. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC051665 |
T |
A |
13: 60,932,521 (GRCm39) |
N55Y |
probably damaging |
Het |
| Cdh19 |
T |
C |
1: 110,882,418 (GRCm39) |
T25A |
probably benign |
Het |
| Eef1akmt1 |
A |
T |
14: 57,787,891 (GRCm39) |
S156T |
probably damaging |
Het |
| Fsip1 |
T |
C |
2: 118,080,384 (GRCm39) |
H124R |
probably benign |
Het |
| Gba2 |
C |
A |
4: 43,578,308 (GRCm39) |
A14S |
possibly damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,809,564 (GRCm39) |
|
probably null |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,660,465 (GRCm39) |
S702P |
probably damaging |
Het |
| Nudt14 |
T |
C |
12: 112,905,612 (GRCm39) |
Q27R |
probably null |
Het |
| Or51h1 |
T |
C |
7: 102,308,336 (GRCm39) |
F103L |
possibly damaging |
Het |
| Pdilt |
T |
A |
7: 119,114,177 (GRCm39) |
Q107L |
probably benign |
Het |
| Rasgrp3 |
T |
C |
17: 75,831,916 (GRCm39) |
V579A |
possibly damaging |
Het |
| Rasl11a |
G |
A |
5: 146,784,187 (GRCm39) |
V211I |
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Shoc1 |
A |
G |
4: 59,062,656 (GRCm39) |
S867P |
possibly damaging |
Het |
| Spc24 |
AGAGGTAGTCACTGA |
AGA |
9: 21,667,511 (GRCm39) |
|
probably null |
Het |
| Synj1 |
A |
T |
16: 90,775,622 (GRCm39) |
D385E |
probably damaging |
Het |
| Usp48 |
A |
G |
4: 137,321,755 (GRCm39) |
E49G |
probably benign |
Het |
| Vmn1r202 |
C |
T |
13: 22,685,932 (GRCm39) |
V162I |
probably benign |
Het |
|
| Other mutations in Mapk8ip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01942:Mapk8ip2
|
APN |
15 |
89,341,220 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02720:Mapk8ip2
|
APN |
15 |
89,341,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02741:Mapk8ip2
|
APN |
15 |
89,341,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03027:Mapk8ip2
|
APN |
15 |
89,342,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4520001:Mapk8ip2
|
UTSW |
15 |
89,344,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Mapk8ip2
|
UTSW |
15 |
89,340,861 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2355:Mapk8ip2
|
UTSW |
15 |
89,343,168 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3430:Mapk8ip2
|
UTSW |
15 |
89,341,485 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4275:Mapk8ip2
|
UTSW |
15 |
89,343,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4789:Mapk8ip2
|
UTSW |
15 |
89,343,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4953:Mapk8ip2
|
UTSW |
15 |
89,341,431 (GRCm39) |
missense |
probably benign |
|
|
R5209:Mapk8ip2
|
UTSW |
15 |
89,343,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5417:Mapk8ip2
|
UTSW |
15 |
89,341,642 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5521:Mapk8ip2
|
UTSW |
15 |
89,343,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6860:Mapk8ip2
|
UTSW |
15 |
89,344,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7145:Mapk8ip2
|
UTSW |
15 |
89,343,201 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7231:Mapk8ip2
|
UTSW |
15 |
89,342,279 (GRCm39) |
missense |
probably benign |
|
|
R7369:Mapk8ip2
|
UTSW |
15 |
89,338,454 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7753:Mapk8ip2
|
UTSW |
15 |
89,345,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7827:Mapk8ip2
|
UTSW |
15 |
89,342,322 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7834:Mapk8ip2
|
UTSW |
15 |
89,345,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8387:Mapk8ip2
|
UTSW |
15 |
89,344,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8433:Mapk8ip2
|
UTSW |
15 |
89,342,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8528:Mapk8ip2
|
UTSW |
15 |
89,339,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9061:Mapk8ip2
|
UTSW |
15 |
89,342,016 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9301:Mapk8ip2
|
UTSW |
15 |
89,341,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9768:Mapk8ip2
|
UTSW |
15 |
89,343,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGGTGCTCATCTGGACAAC -3'
(R):5'- TCCTGGTAGTACTCCAGGAAG -3'
Sequencing Primer
(F):5'- CTCATCTGGACAACAGTTGTTATTAG -3'
(R):5'- TAGTACTCCAGGAAGGCCCG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation