Incidental Mutation 'R9306:Mapk8ip1'
ID |
705203 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mapk8ip1
|
Ensembl Gene |
ENSMUSG00000027223 |
Gene Name |
mitogen-activated protein kinase 8 interacting protein 1 |
Synonyms |
Skip, IB1, Prkm8ip, MAPK8IP1, mjip-2a, JIP-1, Jip1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.296)
|
Stock # |
R9306 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
92214021-92231608 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 92219428 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 134
(D134E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050773
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050312]
[ENSMUST00000111279]
[ENSMUST00000111280]
|
AlphaFold |
Q9WVI9 |
PDB Structure |
Structural basis for the selective inhibition of JNK1 by the scaffolding protein JIP1 and SP600125 [X-RAY DIFFRACTION]
Structural basis for the selective inhibition of JNK1 by the scaffolding protein JIP1 and SP600125 [X-RAY DIFFRACTION]
Crystal Structure of JNK1-alpha1 isoform [X-RAY DIFFRACTION]
Crystal Structure of JNK1-alpha1 isoform complex with a biaryl tetrazol (A-82118) [X-RAY DIFFRACTION]
Structural and functional analysis of quercetagetin, a natural JNK1 inhibitor [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000050312
AA Change: D134E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000050773 Gene: ENSMUSG00000027223 AA Change: D134E
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
24 |
N/A |
INTRINSIC |
low complexity region
|
38 |
51 |
N/A |
INTRINSIC |
low complexity region
|
71 |
87 |
N/A |
INTRINSIC |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
low complexity region
|
242 |
254 |
N/A |
INTRINSIC |
low complexity region
|
462 |
477 |
N/A |
INTRINSIC |
SH3
|
487 |
544 |
2.62e-11 |
SMART |
PTB
|
558 |
700 |
1.2e-43 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111279
AA Change: D125E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106910 Gene: ENSMUSG00000027223 AA Change: D125E
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
42 |
N/A |
INTRINSIC |
low complexity region
|
62 |
78 |
N/A |
INTRINSIC |
low complexity region
|
89 |
110 |
N/A |
INTRINSIC |
low complexity region
|
233 |
245 |
N/A |
INTRINSIC |
low complexity region
|
453 |
468 |
N/A |
INTRINSIC |
SH3
|
478 |
535 |
2.62e-11 |
SMART |
PTB
|
549 |
691 |
1.2e-43 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111280
|
SMART Domains |
Protein: ENSMUSP00000106911 Gene: ENSMUSG00000044916
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
29 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
100% (43/43) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse protein known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This protein has been shown to prevent MAPK8 mediated activation of transcription factors, and to decrease IL-1 beta and MAP kinase kinase 1 (MEKK1) induced apoptosis in pancreatic beta cells. This protein also functions as a DNA-binding transactivator of the glucose transporter GLUT2. RE1-silencing transcription factor (REST) is reported to repress the expression of this gene in insulin-secreting beta cells. This gene is found to be mutated in a type 2 diabetes family, and thus is thought to be a susceptibility gene for type 2 diabetes. [provided by RefSeq, May 2011] PHENOTYPE: Homozygous mutation of this gene results in a decreased susceptibility to ischemic brain injury. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
Adam18 |
G |
A |
8: 25,136,420 (GRCm39) |
S367L |
possibly damaging |
Het |
Alox12b |
A |
T |
11: 69,060,396 (GRCm39) |
I651F |
possibly damaging |
Het |
Arfgef2 |
A |
G |
2: 166,723,188 (GRCm39) |
K1543E |
probably benign |
Het |
Arhgap24 |
A |
G |
5: 102,994,008 (GRCm39) |
I30V |
possibly damaging |
Het |
Atad2 |
A |
T |
15: 57,959,994 (GRCm39) |
Y1343* |
probably null |
Het |
Clca3a1 |
A |
G |
3: 144,730,339 (GRCm39) |
Y169H |
probably damaging |
Het |
Cspg4b |
A |
G |
13: 113,506,010 (GRCm39) |
T2380A |
unknown |
Het |
Eno1b |
G |
A |
18: 48,180,922 (GRCm39) |
V367I |
probably benign |
Het |
Fbh1 |
T |
C |
2: 11,772,387 (GRCm39) |
E98G |
probably benign |
Het |
Fbxw14 |
A |
T |
9: 109,100,280 (GRCm39) |
M458K |
probably benign |
Het |
Galnt13 |
A |
T |
2: 54,823,569 (GRCm39) |
I382F |
probably benign |
Het |
Hoxa10 |
T |
C |
6: 52,209,635 (GRCm39) |
T368A |
possibly damaging |
Het |
Ism2 |
C |
T |
12: 87,333,826 (GRCm39) |
C73Y |
probably benign |
Het |
Kif15 |
T |
C |
9: 122,807,056 (GRCm39) |
V264A |
probably damaging |
Het |
Lars1 |
T |
C |
18: 42,358,884 (GRCm39) |
|
probably null |
Het |
Lmtk2 |
T |
A |
5: 144,119,599 (GRCm39) |
H1353Q |
probably benign |
Het |
Lrp1b |
A |
T |
2: 40,518,762 (GRCm39) |
C157S |
possibly damaging |
Het |
Map3k7cl |
A |
G |
16: 87,391,149 (GRCm39) |
D91G |
possibly damaging |
Het |
Meaf6 |
A |
T |
4: 124,996,766 (GRCm39) |
T159S |
unknown |
Het |
Moxd1 |
A |
G |
10: 24,128,824 (GRCm39) |
|
probably benign |
Het |
Mup8 |
T |
A |
4: 60,219,682 (GRCm39) |
E195V |
possibly damaging |
Het |
Nox4 |
A |
T |
7: 86,896,781 (GRCm39) |
Q48L |
probably benign |
Het |
Or1j19 |
T |
A |
2: 36,677,407 (GRCm39) |
I290N |
probably damaging |
Het |
Or52d3 |
T |
A |
7: 104,229,128 (GRCm39) |
W92R |
probably damaging |
Het |
Or6c219 |
G |
A |
10: 129,781,289 (GRCm39) |
S99F |
probably damaging |
Het |
Otop3 |
G |
T |
11: 115,237,248 (GRCm39) |
V571L |
probably benign |
Het |
Oxr1 |
A |
G |
15: 41,686,861 (GRCm39) |
H581R |
possibly damaging |
Het |
Pappa2 |
A |
T |
1: 158,764,492 (GRCm39) |
F340I |
probably damaging |
Het |
Pcdh10 |
G |
A |
3: 45,335,804 (GRCm39) |
G706D |
probably benign |
Het |
Pdia5 |
A |
T |
16: 35,250,353 (GRCm39) |
V202D |
probably damaging |
Het |
Pdpn |
G |
A |
4: 143,000,601 (GRCm39) |
T77M |
probably damaging |
Het |
Phf11 |
T |
A |
14: 59,482,294 (GRCm39) |
D153V |
probably damaging |
Het |
Pira1 |
T |
A |
7: 3,740,360 (GRCm39) |
Q287L |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,422,599 (GRCm39) |
T1598A |
probably benign |
Het |
Slc27a6 |
C |
T |
18: 58,742,953 (GRCm39) |
T547I |
possibly damaging |
Het |
Smoc1 |
G |
A |
12: 81,214,430 (GRCm39) |
V282I |
possibly damaging |
Het |
Sppl3 |
C |
A |
5: 115,212,922 (GRCm39) |
N50K |
probably benign |
Het |
Taar5 |
T |
C |
10: 23,846,781 (GRCm39) |
S60P |
possibly damaging |
Het |
Tgtp2 |
G |
T |
11: 48,949,865 (GRCm39) |
Q236K |
probably benign |
Het |
Timd5 |
A |
C |
11: 46,419,519 (GRCm39) |
M112L |
probably benign |
Het |
Vmn1r8 |
T |
A |
6: 57,013,713 (GRCm39) |
W255R |
probably benign |
Het |
Vmn2r11 |
C |
T |
5: 109,196,831 (GRCm39) |
C547Y |
probably damaging |
Het |
Vmn2r96 |
A |
G |
17: 18,803,226 (GRCm39) |
T187A |
probably benign |
Het |
Vwa1 |
G |
A |
4: 155,855,328 (GRCm39) |
P262S |
probably benign |
Het |
|
Other mutations in Mapk8ip1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00331:Mapk8ip1
|
APN |
2 |
92,215,533 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01538:Mapk8ip1
|
APN |
2 |
92,219,319 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02089:Mapk8ip1
|
APN |
2 |
92,216,220 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02177:Mapk8ip1
|
APN |
2 |
92,217,092 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03032:Mapk8ip1
|
APN |
2 |
92,216,958 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03180:Mapk8ip1
|
APN |
2 |
92,217,257 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0243:Mapk8ip1
|
UTSW |
2 |
92,216,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R0483:Mapk8ip1
|
UTSW |
2 |
92,216,321 (GRCm39) |
splice site |
probably null |
|
R0515:Mapk8ip1
|
UTSW |
2 |
92,217,701 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2016:Mapk8ip1
|
UTSW |
2 |
92,221,379 (GRCm39) |
critical splice donor site |
probably null |
|
R2017:Mapk8ip1
|
UTSW |
2 |
92,221,379 (GRCm39) |
critical splice donor site |
probably null |
|
R5141:Mapk8ip1
|
UTSW |
2 |
92,217,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R5858:Mapk8ip1
|
UTSW |
2 |
92,215,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R6194:Mapk8ip1
|
UTSW |
2 |
92,219,589 (GRCm39) |
missense |
probably damaging |
0.98 |
R6243:Mapk8ip1
|
UTSW |
2 |
92,219,589 (GRCm39) |
missense |
probably damaging |
0.98 |
R6244:Mapk8ip1
|
UTSW |
2 |
92,219,589 (GRCm39) |
missense |
probably damaging |
0.98 |
R6245:Mapk8ip1
|
UTSW |
2 |
92,219,589 (GRCm39) |
missense |
probably damaging |
0.98 |
R6984:Mapk8ip1
|
UTSW |
2 |
92,217,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R7471:Mapk8ip1
|
UTSW |
2 |
92,219,489 (GRCm39) |
missense |
probably benign |
|
R7588:Mapk8ip1
|
UTSW |
2 |
92,216,984 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7810:Mapk8ip1
|
UTSW |
2 |
92,219,496 (GRCm39) |
missense |
probably benign |
0.05 |
R8021:Mapk8ip1
|
UTSW |
2 |
92,216,760 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8975:Mapk8ip1
|
UTSW |
2 |
92,215,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R9062:Mapk8ip1
|
UTSW |
2 |
92,217,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R9267:Mapk8ip1
|
UTSW |
2 |
92,216,714 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9569:Mapk8ip1
|
UTSW |
2 |
92,217,599 (GRCm39) |
missense |
probably benign |
0.00 |
R9729:Mapk8ip1
|
UTSW |
2 |
92,217,060 (GRCm39) |
missense |
probably damaging |
1.00 |
X0023:Mapk8ip1
|
UTSW |
2 |
92,216,946 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCCCTGCAGAAAGCCTGTC -3'
(R):5'- TGATTTCACTCTGGGCTCGG -3'
Sequencing Primer
(F):5'- TGCAGAAAGCCTGTCCCTCC -3'
(R):5'- AGGCCCAGTGCTTCTGTC -3'
|
Posted On |
2022-03-25 |