Incidental Mutation 'R8528:Mapk8ip2'
| ID |
658909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapk8ip2
|
| Ensembl Gene |
ENSMUSG00000022619 |
| Gene Name |
mitogen-activated protein kinase 8 interacting protein 2 |
| Synonyms |
JNK-interacting protein, 3230402N03Rik, Jip2, IB2 |
| MMRRC Submission |
068498-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.539)
|
| Stock # |
R8528 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
89338114-89346650 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89339422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 34
(D34G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023291]
|
| AlphaFold |
Q9ERE9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023291
AA Change: D34G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023291
Gene: ENSMUSG00000022619
AA Change: D34G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
419 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
472 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
598 |
N/A |
INTRINSIC |
|
SH3
|
613 |
670 |
2.24e-10 |
SMART |
|
PTB
|
684 |
823 |
1.19e-38 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is closely related to MAPK8IP1/IB1/JIP-1, a scaffold protein that is involved in the c-Jun amino-terminal kinase signaling pathway. This protein is expressed in brain and pancreatic cells. It has been shown to interact with, and regulate the activity of MAPK8/JNK1, and MAP2K7/MKK7 kinases. This protein thus is thought to function as a regulator of signal transduction by protein kinase cascade in brain and pancreatic beta-cells. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a null allele are smaller in size and exhibit male infertility. Mice homozygous for a different knock-out allele exhibit behavioral and cerebellar transmission deficits. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
A |
C |
15: 74,447,700 (GRCm39) |
I169L |
possibly damaging |
Het |
| Ahnak |
A |
T |
19: 8,985,092 (GRCm39) |
K2125N |
probably damaging |
Het |
| Arl5b |
T |
A |
2: 15,078,138 (GRCm39) |
|
probably null |
Het |
| Ccng2 |
T |
C |
5: 93,417,164 (GRCm39) |
V60A |
possibly damaging |
Het |
| Cfap65 |
A |
G |
1: 74,945,096 (GRCm39) |
V1442A |
possibly damaging |
Het |
| Cyp1b1 |
T |
A |
17: 80,017,993 (GRCm39) |
E387D |
probably damaging |
Het |
| Dchs2 |
T |
C |
3: 83,261,918 (GRCm39) |
S2729P |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 117,972,538 (GRCm39) |
F2882S |
probably damaging |
Het |
| Dpy30 |
T |
C |
17: 74,606,757 (GRCm39) |
D97G |
probably benign |
Het |
| Enam |
T |
A |
5: 88,650,078 (GRCm39) |
V454E |
probably damaging |
Het |
| Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
| Ero1b |
T |
A |
13: 12,614,757 (GRCm39) |
C240* |
probably null |
Het |
| Exog |
A |
G |
9: 119,291,686 (GRCm39) |
D297G |
probably damaging |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| Fer1l5 |
A |
G |
1: 36,456,855 (GRCm39) |
Y1611C |
possibly damaging |
Het |
| Firrm |
T |
C |
1: 163,813,652 (GRCm39) |
K191E |
probably damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,285,034 (GRCm39) |
V1285A |
probably benign |
Het |
| Gfpt1 |
G |
C |
6: 87,043,770 (GRCm39) |
|
probably null |
Het |
| Gm15446 |
T |
C |
5: 110,090,896 (GRCm39) |
Y383H |
possibly damaging |
Het |
| Gsdmc |
A |
T |
15: 63,649,189 (GRCm39) |
|
probably null |
Het |
| Hao1 |
A |
G |
2: 134,364,913 (GRCm39) |
I238T |
probably damaging |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Kcnv2 |
T |
A |
19: 27,300,387 (GRCm39) |
D79E |
probably benign |
Het |
| Lrrc8a |
T |
C |
2: 30,145,557 (GRCm39) |
Y124H |
probably damaging |
Het |
| Lrrc8d |
T |
A |
5: 105,960,352 (GRCm39) |
M254K |
probably benign |
Het |
| Map3k4 |
T |
C |
17: 12,451,821 (GRCm39) |
N1489S |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,767,423 (GRCm39) |
T876A |
probably damaging |
Het |
| Pabpc2 |
C |
T |
18: 39,908,439 (GRCm39) |
T568I |
probably benign |
Het |
| Pcdhga2 |
G |
T |
18: 37,802,221 (GRCm39) |
A22S |
probably benign |
Het |
| Rc3h2 |
G |
A |
2: 37,272,811 (GRCm39) |
T755I |
probably benign |
Het |
| Sertad4 |
A |
G |
1: 192,533,391 (GRCm39) |
V15A |
probably benign |
Het |
| Slc28a2 |
A |
G |
2: 122,286,223 (GRCm39) |
K520E |
probably damaging |
Het |
| Slc4a10 |
T |
C |
2: 62,127,140 (GRCm39) |
V831A |
possibly damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spag17 |
A |
T |
3: 100,031,501 (GRCm39) |
I2255F |
possibly damaging |
Het |
| Sprn |
C |
T |
7: 139,733,423 (GRCm39) |
|
probably benign |
Het |
| Stim1 |
T |
C |
7: 102,080,289 (GRCm39) |
|
probably benign |
Het |
| Stk24 |
C |
A |
14: 121,529,447 (GRCm39) |
A402S |
probably benign |
Het |
| Sycp2 |
A |
G |
2: 178,016,326 (GRCm39) |
L712P |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,795,668 (GRCm39) |
G269S |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,342,545 (GRCm39) |
E308G |
possibly damaging |
Het |
| Zfp442 |
A |
C |
2: 150,250,962 (GRCm39) |
H312Q |
probably damaging |
Het |
|
| Other mutations in Mapk8ip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01942:Mapk8ip2
|
APN |
15 |
89,341,220 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02720:Mapk8ip2
|
APN |
15 |
89,341,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02741:Mapk8ip2
|
APN |
15 |
89,341,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03027:Mapk8ip2
|
APN |
15 |
89,342,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4520001:Mapk8ip2
|
UTSW |
15 |
89,344,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Mapk8ip2
|
UTSW |
15 |
89,340,861 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2355:Mapk8ip2
|
UTSW |
15 |
89,343,168 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3026:Mapk8ip2
|
UTSW |
15 |
89,345,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3430:Mapk8ip2
|
UTSW |
15 |
89,341,485 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4275:Mapk8ip2
|
UTSW |
15 |
89,343,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4789:Mapk8ip2
|
UTSW |
15 |
89,343,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4953:Mapk8ip2
|
UTSW |
15 |
89,341,431 (GRCm39) |
missense |
probably benign |
|
|
R5209:Mapk8ip2
|
UTSW |
15 |
89,343,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5417:Mapk8ip2
|
UTSW |
15 |
89,341,642 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5521:Mapk8ip2
|
UTSW |
15 |
89,343,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6860:Mapk8ip2
|
UTSW |
15 |
89,344,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7145:Mapk8ip2
|
UTSW |
15 |
89,343,201 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7231:Mapk8ip2
|
UTSW |
15 |
89,342,279 (GRCm39) |
missense |
probably benign |
|
|
R7369:Mapk8ip2
|
UTSW |
15 |
89,338,454 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7753:Mapk8ip2
|
UTSW |
15 |
89,345,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7827:Mapk8ip2
|
UTSW |
15 |
89,342,322 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7834:Mapk8ip2
|
UTSW |
15 |
89,345,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8387:Mapk8ip2
|
UTSW |
15 |
89,344,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8433:Mapk8ip2
|
UTSW |
15 |
89,342,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9061:Mapk8ip2
|
UTSW |
15 |
89,342,016 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9301:Mapk8ip2
|
UTSW |
15 |
89,341,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9768:Mapk8ip2
|
UTSW |
15 |
89,343,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATCTCCCCTGAGGCTGAAG -3'
(R):5'- GCAGCTGAACTCAAGACTCC -3'
Sequencing Primer
(F):5'- TGAGGCTGAAGCTGTGACC -3'
(R):5'- GCTGAACTCAAGACTCCCTAAAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation