Incidental Mutation 'R0515:Mapk8ip1'
ID |
48174 |
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 |
038709-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.296)
|
Stock # |
R0515 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
92214021-92231608 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 92217701 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 198
(I198N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106910
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050312]
[ENSMUST00000054316]
[ENSMUST00000111279]
[ENSMUST00000111280]
[ENSMUST00000191292]
|
AlphaFold |
Q9WVI9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050312
AA Change: I207N
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000050773 Gene: ENSMUSG00000027223 AA Change: I207N
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 |
possibly damaging
Transcript: ENSMUST00000111279
AA Change: I198N
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000106910 Gene: ENSMUSG00000027223 AA Change: I198N
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
|
Meta Mutation Damage Score |
0.0594 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
Validation Efficiency |
98% (40/41) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
App |
C |
T |
16: 84,900,232 (GRCm39) |
|
probably benign |
Het |
Arhgap11a |
G |
A |
2: 113,667,816 (GRCm39) |
T395I |
possibly damaging |
Het |
Arhgef38 |
T |
G |
3: 132,855,301 (GRCm39) |
H262P |
probably damaging |
Het |
Cd96 |
A |
G |
16: 45,884,268 (GRCm39) |
|
probably benign |
Het |
Cfap57 |
A |
G |
4: 118,477,599 (GRCm39) |
S2P |
probably damaging |
Het |
Cltc |
A |
G |
11: 86,599,865 (GRCm39) |
S948P |
probably benign |
Het |
Cyp3a41a |
A |
T |
5: 145,654,810 (GRCm39) |
H30Q |
probably damaging |
Het |
Dcp2 |
C |
T |
18: 44,532,798 (GRCm39) |
L105F |
probably benign |
Het |
Dennd4c |
T |
C |
4: 86,731,703 (GRCm39) |
V887A |
possibly damaging |
Het |
Dnaaf9 |
A |
G |
2: 130,582,408 (GRCm39) |
V515A |
probably damaging |
Het |
Gm11360 |
T |
A |
13: 28,140,143 (GRCm39) |
D2E |
probably damaging |
Het |
Gpank1 |
G |
T |
17: 35,342,475 (GRCm39) |
A149S |
probably damaging |
Het |
Gtf2i |
C |
A |
5: 134,271,773 (GRCm39) |
S792I |
probably damaging |
Het |
Hvcn1 |
A |
G |
5: 122,371,582 (GRCm39) |
N41D |
probably damaging |
Het |
Klk1b5 |
A |
G |
7: 43,867,957 (GRCm39) |
Y43C |
probably damaging |
Het |
Lmtk2 |
A |
G |
5: 144,111,809 (GRCm39) |
D843G |
possibly damaging |
Het |
Lrriq1 |
A |
T |
10: 102,904,829 (GRCm39) |
|
probably null |
Het |
Mill1 |
T |
C |
7: 17,998,798 (GRCm39) |
V336A |
probably benign |
Het |
Mroh7 |
T |
A |
4: 106,548,861 (GRCm39) |
M1001L |
probably benign |
Het |
Nfe2 |
T |
A |
15: 103,157,854 (GRCm39) |
T46S |
probably null |
Het |
Or8b40 |
T |
C |
9: 38,027,313 (GRCm39) |
S74P |
probably damaging |
Het |
Or9q1 |
T |
C |
19: 13,805,185 (GRCm39) |
S192G |
probably damaging |
Het |
Parp4 |
T |
C |
14: 56,851,124 (GRCm39) |
V709A |
probably damaging |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Prex2 |
A |
T |
1: 11,270,098 (GRCm39) |
Q1261L |
probably damaging |
Het |
Prl8a8 |
T |
A |
13: 27,692,350 (GRCm39) |
I214L |
probably damaging |
Het |
Rictor |
C |
T |
15: 6,798,782 (GRCm39) |
T343M |
probably damaging |
Het |
Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
Siglecf |
T |
C |
7: 43,005,055 (GRCm39) |
|
probably null |
Het |
Slco1b2 |
T |
C |
6: 141,615,136 (GRCm39) |
F347S |
possibly damaging |
Het |
Sox13 |
A |
T |
1: 133,311,457 (GRCm39) |
Y592N |
probably damaging |
Het |
Synj1 |
C |
T |
16: 90,790,910 (GRCm39) |
A84T |
possibly damaging |
Het |
Tent5b |
A |
T |
4: 133,213,450 (GRCm39) |
H107L |
possibly damaging |
Het |
Trpv5 |
T |
A |
6: 41,651,145 (GRCm39) |
|
probably benign |
Het |
Tshz1 |
A |
G |
18: 84,034,090 (GRCm39) |
V106A |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTGACCGAGTCGTAGGACAGTG -3'
(R):5'- CATCCTCCCCTCTGAAGACAGGTAAG -3'
Sequencing Primer
(F):5'- CTGGATCGGAGCTAACTGACATC -3'
(R):5'- TCTCTCCCCAAGCTGGAGAC -3'
|
Posted On |
2013-06-12 |