Incidental Mutation 'R5417:Mapk8ip2'
| ID |
427805 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.539)
|
| Stock # |
R5417 (G1)
|
| Quality Score |
155 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
89338114-89346650 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 89341642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 284
(D284E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023291]
[ENSMUST00000137755]
|
| AlphaFold |
Q9ERE9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023291
AA Change: D284E
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000023291
Gene: ENSMUSG00000022619
AA Change: D284E
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap39 |
A |
G |
15: 76,619,301 (GRCm39) |
V761A |
possibly damaging |
Het |
| Ccdc47 |
C |
T |
11: 106,101,176 (GRCm39) |
R162Q |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,964,259 (GRCm39) |
E563G |
probably damaging |
Het |
| Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
| Col17a1 |
C |
A |
19: 47,650,829 (GRCm39) |
G732C |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,233,579 (GRCm39) |
I812V |
probably null |
Het |
| Dennd1c |
CCGCCCCTCGCTGACAGC |
CC |
17: 57,373,755 (GRCm39) |
|
probably null |
Het |
| Dgkg |
A |
T |
16: 22,407,081 (GRCm39) |
M168K |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dolpp1 |
T |
C |
2: 30,286,249 (GRCm39) |
L18P |
probably damaging |
Het |
| Eif3e |
A |
T |
15: 43,128,917 (GRCm39) |
D234E |
probably benign |
Het |
| Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
| Fbxw10 |
G |
A |
11: 62,767,990 (GRCm39) |
R942Q |
possibly damaging |
Het |
| Flvcr2 |
T |
G |
12: 85,793,965 (GRCm39) |
F114V |
probably damaging |
Het |
| Gm14443 |
A |
T |
2: 175,011,796 (GRCm39) |
C217S |
probably damaging |
Het |
| Gphb5 |
A |
T |
12: 75,459,746 (GRCm39) |
V83E |
possibly damaging |
Het |
| Gpsm1 |
T |
C |
2: 26,214,045 (GRCm39) |
|
probably null |
Het |
| Grik4 |
A |
G |
9: 42,582,544 (GRCm39) |
F134S |
probably benign |
Het |
| Ibsp |
G |
A |
5: 104,458,335 (GRCm39) |
E291K |
possibly damaging |
Het |
| Igfals |
T |
G |
17: 25,099,290 (GRCm39) |
L127R |
probably damaging |
Het |
| Igsf9b |
CGGCCCCGGCCCAG |
CGGCCCCGGCCCAGGCCCCGGCCCAG |
9: 27,245,572 (GRCm39) |
|
probably benign |
Het |
| Iqcf3 |
T |
A |
9: 106,431,413 (GRCm39) |
D63V |
probably damaging |
Het |
| Klc4 |
A |
G |
17: 46,942,957 (GRCm39) |
|
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,411,781 (GRCm39) |
T1576S |
unknown |
Het |
| Nlrp3 |
G |
A |
11: 59,439,889 (GRCm39) |
G489S |
probably damaging |
Het |
| Nr5a1 |
T |
A |
2: 38,598,098 (GRCm39) |
Q233L |
possibly damaging |
Het |
| Nusap1 |
G |
A |
2: 119,477,624 (GRCm39) |
V345I |
probably damaging |
Het |
| Or10q1 |
A |
G |
19: 13,727,217 (GRCm39) |
H249R |
probably benign |
Het |
| Or4k51 |
A |
G |
2: 111,585,265 (GRCm39) |
T224A |
possibly damaging |
Het |
| Or51aa2 |
A |
T |
7: 103,187,970 (GRCm39) |
V157E |
possibly damaging |
Het |
| Oxr1 |
A |
G |
15: 41,683,767 (GRCm39) |
T378A |
probably benign |
Het |
| Pcdhb12 |
T |
C |
18: 37,569,087 (GRCm39) |
F78L |
probably benign |
Het |
| Pgm2l1 |
A |
T |
7: 99,921,583 (GRCm39) |
I605L |
probably benign |
Het |
| Pik3c2g |
A |
G |
6: 139,682,669 (GRCm39) |
I17V |
probably benign |
Het |
| Prss39 |
A |
G |
1: 34,539,209 (GRCm39) |
S150G |
probably benign |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Scg3 |
T |
A |
9: 75,576,538 (GRCm39) |
Y279F |
probably benign |
Het |
| Skic2 |
C |
T |
17: 35,065,574 (GRCm39) |
V327I |
probably damaging |
Het |
| Srfbp1 |
T |
C |
18: 52,621,697 (GRCm39) |
C253R |
probably benign |
Het |
| Tcirg1 |
C |
T |
19: 3,953,509 (GRCm39) |
|
probably null |
Het |
| Trim37 |
A |
G |
11: 87,057,505 (GRCm39) |
Y313C |
probably damaging |
Het |
| Ttll9 |
A |
T |
2: 152,844,912 (GRCm39) |
M427L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,475,409 (GRCm39) |
R932G |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCGGATCCTGGTATTGAG -3'
(R):5'- AGGAGCCCTCAGAGATCATG -3'
Sequencing Primer
(F):5'- GGCTGACTTGAGAAGCCACTCTAG -3'
(R):5'- TCAGAGATCATGCGGCTCAC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation