Incidental Mutation 'R9062:Mapk8ip1'
| ID |
689017 |
| 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 |
068888-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.296)
|
| Stock # |
R9062 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
92214021-92231608 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92217527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 265
(Y265C)
|
| 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 |
probably damaging
Transcript: ENSMUST00000050312
AA Change: Y265C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050773
Gene: ENSMUSG00000027223
AA Change: Y265C
| 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: Y256C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106910
Gene: ENSMUSG00000027223
AA Change: Y256C
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (52/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambra1 |
A |
G |
2: 91,740,662 (GRCm39) |
E1047G |
possibly damaging |
Het |
| Ankfn1 |
T |
G |
11: 89,325,583 (GRCm39) |
I530L |
probably benign |
Het |
| Apob |
A |
T |
12: 8,058,046 (GRCm39) |
Y2176F |
possibly damaging |
Het |
| Atp5f1a |
C |
T |
18: 77,866,459 (GRCm39) |
R171* |
probably null |
Het |
| Atxn10 |
T |
C |
15: 85,275,918 (GRCm39) |
V325A |
probably benign |
Het |
| B3galt1 |
T |
C |
2: 67,948,890 (GRCm39) |
Y202H |
|
Het |
| Calhm1 |
A |
T |
19: 47,129,828 (GRCm39) |
D231E |
possibly damaging |
Het |
| Cel |
C |
A |
2: 28,451,214 (GRCm39) |
V48F |
probably benign |
Het |
| Cep78 |
T |
A |
19: 15,956,318 (GRCm39) |
Y207F |
probably benign |
Het |
| Cnst |
T |
C |
1: 179,434,100 (GRCm39) |
|
probably null |
Het |
| Cpeb2 |
C |
A |
5: 43,391,171 (GRCm39) |
N122K |
|
Het |
| Cyth1 |
T |
C |
11: 118,023,142 (GRCm39) |
Q432R |
unknown |
Het |
| Eif2ak1 |
T |
C |
5: 143,803,548 (GRCm39) |
|
probably benign |
Het |
| Eif6 |
T |
C |
2: 155,665,928 (GRCm39) |
T76A |
probably benign |
Het |
| Etfrf1 |
A |
T |
6: 145,161,153 (GRCm39) |
N41I |
probably damaging |
Het |
| Etl4 |
T |
G |
2: 20,748,616 (GRCm39) |
L318R |
probably damaging |
Het |
| Fam151a |
G |
T |
4: 106,605,306 (GRCm39) |
W556L |
probably benign |
Het |
| Gas2l1 |
A |
G |
11: 5,011,497 (GRCm39) |
V444A |
probably benign |
Het |
| Gbp8 |
A |
G |
5: 105,179,124 (GRCm39) |
I125T |
possibly damaging |
Het |
| Jrkl |
A |
G |
9: 13,245,338 (GRCm39) |
F108L |
probably benign |
Het |
| Kif13a |
G |
T |
13: 46,941,536 (GRCm39) |
D980E |
possibly damaging |
Het |
| Leng9 |
C |
T |
7: 4,151,666 (GRCm39) |
A337T |
probably damaging |
Het |
| Lipo3 |
A |
C |
19: 33,757,714 (GRCm39) |
C252G |
probably damaging |
Het |
| Lrp4 |
C |
A |
2: 91,303,925 (GRCm39) |
D113E |
possibly damaging |
Het |
| Mios |
A |
T |
6: 8,233,221 (GRCm39) |
I790F |
probably benign |
Het |
| Mlf2 |
G |
A |
6: 124,911,334 (GRCm39) |
|
silent |
Het |
| Mycbp2 |
T |
A |
14: 103,479,796 (GRCm39) |
Y1226F |
probably benign |
Het |
| Ncoa6 |
T |
A |
2: 155,263,348 (GRCm39) |
Q362L |
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,341,692 (GRCm39) |
D2020G |
possibly damaging |
Het |
| Or4a73 |
T |
C |
2: 89,420,923 (GRCm39) |
M179V |
probably benign |
Het |
| Or4c111 |
T |
A |
2: 88,843,548 (GRCm39) |
T287S |
probably damaging |
Het |
| Or52z1 |
T |
A |
7: 103,437,155 (GRCm39) |
I110L |
probably benign |
Het |
| Or8d1b |
A |
T |
9: 38,887,421 (GRCm39) |
I150F |
probably benign |
Het |
| Otop2 |
C |
A |
11: 115,214,465 (GRCm39) |
A74E |
probably benign |
Het |
| Pgm1 |
T |
C |
4: 99,843,954 (GRCm39) |
I579T |
probably damaging |
Het |
| Preb |
A |
G |
5: 31,116,196 (GRCm39) |
V137A |
probably benign |
Het |
| Psap |
G |
T |
10: 60,131,738 (GRCm39) |
V244L |
possibly damaging |
Het |
| Setbp1 |
A |
G |
18: 78,900,266 (GRCm39) |
S1134P |
probably benign |
Het |
| Skp2 |
G |
T |
15: 9,113,821 (GRCm39) |
P399Q |
probably damaging |
Het |
| Slc47a1 |
T |
G |
11: 61,253,924 (GRCm39) |
I222L |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,126,945 (GRCm39) |
W2022R |
probably benign |
Het |
| Spef2 |
A |
G |
15: 9,601,717 (GRCm39) |
L1515S |
unknown |
Het |
| Sri |
T |
C |
5: 8,106,625 (GRCm39) |
Y13H |
unknown |
Het |
| Tcf25 |
T |
C |
8: 124,116,448 (GRCm39) |
F248L |
|
Het |
| Tdrd12 |
T |
C |
7: 35,179,694 (GRCm39) |
T885A |
unknown |
Het |
| Ttn |
T |
C |
2: 76,600,944 (GRCm39) |
T18813A |
probably damaging |
Het |
| Usp42 |
A |
G |
5: 143,703,740 (GRCm39) |
V441A |
possibly damaging |
Het |
| Vwa1 |
A |
T |
4: 155,854,820 (GRCm39) |
S405T |
probably benign |
Het |
| Zbbx |
A |
T |
3: 74,989,124 (GRCm39) |
H326Q |
possibly damaging |
Het |
| Zfp64 |
T |
C |
2: 168,767,747 (GRCm39) |
T622A |
probably benign |
Het |
| Zfp677 |
T |
G |
17: 21,612,815 (GRCm39) |
|
probably null |
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 |
|
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'- TCCTCTTCACTGATGGAGGG -3'
(R):5'- TGTCCTCCAGGAGAACAGAC -3'
Sequencing Primer
(F):5'- CTCTTCACTGATGGAGGGGTGTG -3'
(R):5'- TGAACACATCTGCCTGAGTG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation