Incidental Mutation 'R7588:Mapk8ip1'
| ID |
587244 |
| 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 |
045636-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.267)
|
| Stock # |
R7588 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
92214021-92231608 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 92216984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 446
(D446V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050312]
[ENSMUST00000054316]
[ENSMUST00000111279]
[ENSMUST00000111280]
[ENSMUST00000191292]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000050312
AA Change: D446V
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000050773
Gene: ENSMUSG00000027223
AA Change: D446V
| 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: ENSMUST00000054316
|
| SMART Domains |
Protein: ENSMUSP00000051464
Gene: ENSMUSG00000044916
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4733
|
4 |
97 |
7.7e-50 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111279
AA Change: D437V
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106910
Gene: ENSMUSG00000027223
AA Change: D437V
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191292
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap2b1 |
T |
A |
11: 83,215,348 (GRCm39) |
D97E |
probably benign |
Het |
| Apbb1 |
G |
T |
7: 105,223,173 (GRCm39) |
P146Q |
probably benign |
Het |
| Aste1 |
T |
A |
9: 105,274,590 (GRCm39) |
S277T |
possibly damaging |
Het |
| Bnip5 |
T |
C |
17: 29,124,430 (GRCm39) |
K291E |
probably benign |
Het |
| Cdk15 |
A |
G |
1: 59,383,458 (GRCm39) |
D415G |
possibly damaging |
Het |
| Cep152 |
T |
A |
2: 125,411,546 (GRCm39) |
E1256D |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,864,039 (GRCm39) |
N2643S |
probably damaging |
Het |
| Copg2 |
A |
G |
6: 30,788,526 (GRCm39) |
|
probably null |
Het |
| D130043K22Rik |
T |
A |
13: 25,071,876 (GRCm39) |
I940N |
probably damaging |
Het |
| Dnmt3a |
A |
G |
12: 3,946,080 (GRCm39) |
T312A |
possibly damaging |
Het |
| Dock5 |
A |
G |
14: 68,000,607 (GRCm39) |
|
probably null |
Het |
| Fam83g |
A |
T |
11: 61,575,522 (GRCm39) |
I55F |
probably damaging |
Het |
| Fanci |
T |
C |
7: 79,084,017 (GRCm39) |
F780L |
possibly damaging |
Het |
| Fhod3 |
G |
T |
18: 25,223,305 (GRCm39) |
A884S |
probably benign |
Het |
| Gas6 |
T |
C |
8: 13,516,711 (GRCm39) |
S596G |
probably benign |
Het |
| Gns |
T |
C |
10: 121,226,563 (GRCm39) |
V404A |
probably benign |
Het |
| Gpatch1 |
T |
C |
7: 34,991,173 (GRCm39) |
N624D |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,532,885 (GRCm39) |
I3099M |
possibly damaging |
Het |
| Itga1 |
A |
T |
13: 115,104,785 (GRCm39) |
S1080R |
possibly damaging |
Het |
| Kcnk15 |
T |
C |
2: 163,700,226 (GRCm39) |
V155A |
probably damaging |
Het |
| Luzp2 |
T |
A |
7: 54,724,838 (GRCm39) |
|
probably null |
Het |
| Med1 |
T |
C |
11: 98,046,398 (GRCm39) |
E1466G |
unknown |
Het |
| Mug1 |
A |
G |
6: 121,852,476 (GRCm39) |
R855G |
probably damaging |
Het |
| Naalad2 |
C |
A |
9: 18,262,775 (GRCm39) |
V374F |
probably damaging |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
| Nlrp5 |
A |
G |
7: 23,107,576 (GRCm39) |
E83G |
probably benign |
Het |
| Nod2 |
T |
C |
8: 89,401,536 (GRCm39) |
F901S |
possibly damaging |
Het |
| Nps |
T |
C |
7: 134,870,508 (GRCm39) |
V10A |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,806,900 (GRCm39) |
V1109E |
probably damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,877,246 (GRCm39) |
D267G |
probably damaging |
Het |
| Pfkp |
A |
G |
13: 6,698,673 (GRCm39) |
Y15H |
possibly damaging |
Het |
| Pgap6 |
T |
C |
17: 26,341,017 (GRCm39) |
Y176H |
probably damaging |
Het |
| Ppm1b |
T |
C |
17: 85,320,997 (GRCm39) |
S380P |
probably benign |
Het |
| Psg21 |
T |
C |
7: 18,381,134 (GRCm39) |
N470D |
probably benign |
Het |
| Qrich2 |
T |
C |
11: 116,356,763 (GRCm39) |
N29D |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,090,566 (GRCm39) |
T3431A |
probably benign |
Het |
| Rfc1 |
A |
G |
5: 65,429,850 (GRCm39) |
V852A |
probably damaging |
Het |
| Rttn |
T |
G |
18: 89,082,353 (GRCm39) |
D1426E |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Styxl1 |
G |
A |
5: 135,799,130 (GRCm39) |
P28L |
probably damaging |
Het |
| Tcl1b4 |
A |
G |
12: 105,168,641 (GRCm39) |
|
probably benign |
Het |
| Trav17 |
A |
G |
14: 54,044,302 (GRCm39) |
D24G |
probably benign |
Het |
| Trim28 |
A |
C |
7: 12,763,347 (GRCm39) |
D496A |
probably damaging |
Het |
| Trim29 |
T |
C |
9: 43,246,425 (GRCm39) |
Y574H |
probably damaging |
Het |
| Trip12 |
G |
T |
1: 84,738,604 (GRCm39) |
F750L |
probably damaging |
Het |
| Ubr3 |
C |
A |
2: 69,801,513 (GRCm39) |
T1007K |
probably damaging |
Het |
| Zzz3 |
A |
G |
3: 152,128,405 (GRCm39) |
Y7C |
possibly damaging |
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 |
|
|
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 |
|
R9306:Mapk8ip1
|
UTSW |
2 |
92,219,428 (GRCm39) |
missense |
probably benign |
|
|
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'- AAAGGACTCAGCACCTGTGG -3'
(R):5'- ATGCCCAGCTTGAGTTGGTG -3'
Sequencing Primer
(F):5'- CACCTGTGGGAAGGCAATAGTTTG -3'
(R):5'- CAGCTTGAGTTGGTGAGCCTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation