Incidental Mutation 'IGL02741:Mapk8ip2'
| ID |
305902 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mapk8ip2
|
| Ensembl Gene |
ENSMUSG00000022619 |
| Gene Name |
mitogen-activated protein kinase 8 interacting protein 2 |
| Synonyms |
JNK-interacting protein, 3230402N03Rik, Jip2, IB2 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.539)
|
| Stock # |
IGL02741
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
89338114-89346650 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89341700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 304
(S304P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023291]
[ENSMUST00000137755]
|
| AlphaFold |
Q9ERE9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023291
AA Change: S304P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023291
Gene: ENSMUSG00000022619
AA Change: S304P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137755
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930004D18Rik |
T |
C |
2: 18,032,007 (GRCm39) |
Y37C |
unknown |
Het |
| Arhgap20 |
T |
A |
9: 51,759,945 (GRCm39) |
C599S |
probably benign |
Het |
| Bcl6b |
C |
A |
11: 70,119,942 (GRCm39) |
R15L |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dchs1 |
C |
T |
7: 105,406,530 (GRCm39) |
D2262N |
probably damaging |
Het |
| Dsg4 |
A |
G |
18: 20,604,553 (GRCm39) |
M1007V |
probably benign |
Het |
| Fgd6 |
A |
G |
10: 93,959,152 (GRCm39) |
K1032R |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,839,230 (GRCm39) |
M1583K |
probably benign |
Het |
| Gjc3 |
A |
T |
5: 137,955,726 (GRCm39) |
C186* |
probably null |
Het |
| Gm14496 |
A |
G |
2: 181,633,136 (GRCm39) |
R40G |
probably benign |
Het |
| Ibtk |
T |
C |
9: 85,608,665 (GRCm39) |
R416G |
probably damaging |
Het |
| Kcnc4 |
A |
G |
3: 107,355,294 (GRCm39) |
F385L |
probably damaging |
Het |
| Mbd6 |
A |
G |
10: 127,123,263 (GRCm39) |
|
probably null |
Het |
| Mroh2b |
T |
C |
15: 4,935,114 (GRCm39) |
F183S |
probably benign |
Het |
| Nrg1 |
T |
A |
8: 32,312,316 (GRCm39) |
T334S |
probably damaging |
Het |
| Pigw |
C |
T |
11: 84,769,192 (GRCm39) |
V46I |
probably benign |
Het |
| Pkdrej |
T |
C |
15: 85,701,631 (GRCm39) |
E1435G |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,290,253 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
T |
16: 15,570,590 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
T |
4: 76,051,521 (GRCm39) |
I247N |
probably damaging |
Het |
| Rfx1 |
A |
G |
8: 84,822,471 (GRCm39) |
Q923R |
possibly damaging |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Rps6ka2 |
T |
A |
17: 7,563,415 (GRCm39) |
F608I |
probably benign |
Het |
| Slc13a1 |
A |
T |
6: 24,150,707 (GRCm39) |
|
probably null |
Het |
| Slc6a20b |
C |
T |
9: 123,436,667 (GRCm39) |
V249M |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,401,961 (GRCm39) |
I783V |
possibly damaging |
Het |
| Swap70 |
G |
T |
7: 109,873,856 (GRCm39) |
M401I |
probably benign |
Het |
| Tmco4 |
A |
T |
4: 138,757,188 (GRCm39) |
I407F |
probably damaging |
Het |
| Trpm4 |
T |
A |
7: 44,967,912 (GRCm39) |
S340C |
possibly damaging |
Het |
| Tsc2 |
T |
C |
17: 24,848,943 (GRCm39) |
E79G |
probably damaging |
Het |
| Ubr1 |
A |
C |
2: 120,771,572 (GRCm39) |
S439A |
probably benign |
Het |
| Vmn1r73 |
T |
C |
7: 11,490,710 (GRCm39) |
V176A |
probably benign |
Het |
| Vmn2r17 |
G |
A |
5: 109,568,077 (GRCm39) |
D67N |
probably benign |
Het |
| Wasf1 |
C |
T |
10: 40,806,705 (GRCm39) |
T116M |
probably damaging |
Het |
| Zkscan3 |
A |
T |
13: 21,578,164 (GRCm39) |
M241K |
probably benign |
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 |
|
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 |
|
R8528:Mapk8ip2
|
UTSW |
15 |
89,339,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation