Incidental Mutation 'IGL02177:Mapk8ip1'
| ID |
283164 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.296)
|
| Stock # |
IGL02177
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
92214021-92231608 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92217092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 401
(D401G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050312]
[ENSMUST00000054316]
[ENSMUST00000111279]
[ENSMUST00000111280]
[ENSMUST00000191292]
|
| AlphaFold |
Q9WVI9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050312
AA Change: D410G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050773
Gene: ENSMUSG00000027223
AA Change: D410G
| 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: D401G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106910
Gene: ENSMUSG00000027223
AA Change: D401G
| 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 |
noncoding transcript
Transcript: ENSMUST00000149653
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183506
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189714
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191292
|
| Coding Region Coverage |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add3 |
T |
G |
19: 53,205,323 (GRCm39) |
Y24* |
probably null |
Het |
| Catsperb |
A |
G |
12: 101,507,721 (GRCm39) |
Y496C |
probably damaging |
Het |
| Ccdc183 |
C |
T |
2: 25,502,095 (GRCm39) |
E260K |
probably benign |
Het |
| Ccdc81 |
A |
C |
7: 89,524,988 (GRCm39) |
M531R |
possibly damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,386,964 (GRCm39) |
N342I |
probably benign |
Het |
| Defb43 |
T |
C |
14: 63,249,266 (GRCm39) |
V3A |
probably benign |
Het |
| Dpyd |
T |
A |
3: 118,858,559 (GRCm39) |
I591N |
possibly damaging |
Het |
| Dpysl5 |
T |
G |
5: 30,902,622 (GRCm39) |
V18G |
probably damaging |
Het |
| Erc2 |
A |
T |
14: 27,620,580 (GRCm39) |
M69L |
probably benign |
Het |
| Fam184b |
G |
T |
5: 45,690,157 (GRCm39) |
Y817* |
probably null |
Het |
| Fyb1 |
G |
T |
15: 6,688,047 (GRCm39) |
|
probably null |
Het |
| Gpr33 |
G |
T |
12: 52,070,863 (GRCm39) |
Q59K |
probably benign |
Het |
| Heatr3 |
T |
G |
8: 88,883,351 (GRCm39) |
F278V |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,819,103 (GRCm39) |
D1292E |
probably damaging |
Het |
| Herc1 |
A |
T |
9: 66,341,793 (GRCm39) |
M1861L |
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,242,627 (GRCm39) |
L614Q |
probably damaging |
Het |
| Itpr3 |
A |
G |
17: 27,318,588 (GRCm39) |
R915G |
possibly damaging |
Het |
| Jhy |
T |
C |
9: 40,809,553 (GRCm39) |
D646G |
probably damaging |
Het |
| Lrig1 |
T |
A |
6: 94,640,977 (GRCm39) |
N76I |
possibly damaging |
Het |
| Macc1 |
A |
G |
12: 119,429,292 (GRCm39) |
D814G |
probably damaging |
Het |
| Nedd4 |
T |
A |
9: 72,654,439 (GRCm39) |
S865T |
probably damaging |
Het |
| Or9s27 |
G |
A |
1: 92,516,479 (GRCm39) |
M142I |
possibly damaging |
Het |
| Pi4ka |
A |
T |
16: 17,136,146 (GRCm39) |
D937E |
probably benign |
Het |
| Prkcd |
T |
A |
14: 30,327,844 (GRCm39) |
I81F |
probably damaging |
Het |
| Ranbp9 |
A |
T |
13: 43,573,193 (GRCm39) |
C280S |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Scn1b |
T |
C |
7: 30,816,655 (GRCm39) |
*219W |
probably null |
Het |
| Slain2 |
T |
C |
5: 73,072,008 (GRCm39) |
V14A |
probably benign |
Het |
| Soat1 |
A |
T |
1: 156,268,073 (GRCm39) |
|
probably benign |
Het |
| Tbc1d4 |
T |
A |
14: 101,692,375 (GRCm39) |
M1030L |
possibly damaging |
Het |
| Tenm4 |
T |
C |
7: 96,544,869 (GRCm39) |
V2295A |
probably benign |
Het |
| Tmem135 |
A |
G |
7: 88,987,661 (GRCm39) |
Y46H |
probably damaging |
Het |
| Tnfsf18 |
A |
T |
1: 161,331,354 (GRCm39) |
D168V |
probably damaging |
Het |
| Trdn |
T |
C |
10: 33,015,169 (GRCm39) |
V41A |
probably damaging |
Het |
| Trpc5 |
G |
T |
X: 143,264,234 (GRCm39) |
L208I |
probably damaging |
Het |
| Vmn1r50 |
T |
C |
6: 90,085,139 (GRCm39) |
Y295H |
probably benign |
Het |
| Vmn2r18 |
T |
G |
5: 151,510,274 (GRCm39) |
H33P |
possibly damaging |
Het |
| Vmn2r84 |
T |
C |
10: 130,227,881 (GRCm39) |
I118M |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation