Incidental Mutation 'R4428:Mapk7'
| ID |
328281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapk7
|
| Ensembl Gene |
ENSMUSG00000001034 |
| Gene Name |
mitogen-activated protein kinase 7 |
| Synonyms |
BMK1, big MAP kinase 1, ERK5, b2b2346Clo, Erk5-T |
| MMRRC Submission |
041698-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4428 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
61379638-61385101 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61380055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 701
(D701G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040522]
[ENSMUST00000064783]
[ENSMUST00000079080]
[ENSMUST00000101085]
[ENSMUST00000108714]
[ENSMUST00000153441]
|
| AlphaFold |
Q9WVS8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040522
|
| SMART Domains |
Protein: ENSMUSP00000038971
Gene: ENSMUSG00000042436
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
FBG
|
38 |
280 |
5.6e-119 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064783
|
| SMART Domains |
Protein: ENSMUSP00000070848
Gene: ENSMUSG00000042436
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
FBG
|
38 |
257 |
3.39e-130 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079080
AA Change: D770G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000078087
Gene: ENSMUSG00000001034
AA Change: D770G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
|
S_TKc
|
55 |
347 |
5.66e-96 |
SMART |
|
low complexity region
|
433 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
476 |
492 |
N/A |
INTRINSIC |
|
coiled coil region
|
508 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
603 |
N/A |
INTRINSIC |
|
low complexity region
|
620 |
644 |
N/A |
INTRINSIC |
|
low complexity region
|
675 |
692 |
N/A |
INTRINSIC |
|
low complexity region
|
758 |
772 |
N/A |
INTRINSIC |
|
low complexity region
|
791 |
803 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101085
AA Change: D667G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000098646
Gene: ENSMUSG00000001034
AA Change: D667G
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
277 |
3.48e-73 |
SMART |
|
low complexity region
|
363 |
377 |
N/A |
INTRINSIC |
|
coiled coil region
|
405 |
441 |
N/A |
INTRINSIC |
|
low complexity region
|
475 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
541 |
N/A |
INTRINSIC |
|
low complexity region
|
572 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
655 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
688 |
700 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108714
AA Change: D701G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104354
Gene: ENSMUSG00000001034
AA Change: D701G
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
1 |
278 |
1.76e-74 |
SMART |
|
low complexity region
|
364 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
423 |
N/A |
INTRINSIC |
|
coiled coil region
|
439 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
509 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
575 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
623 |
N/A |
INTRINSIC |
|
low complexity region
|
689 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
722 |
734 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123360
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125840
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128478
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152755
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140779
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135521
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139663
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126495
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127073
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129272
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139932
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153441
|
| SMART Domains |
Protein: ENSMUSP00000116084
Gene: ENSMUSG00000001034
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4IC8|B
|
1 |
49 |
2e-26 |
PDB |
|
low complexity region
|
51 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
110 |
N/A |
INTRINSIC |
|
coiled coil region
|
126 |
162 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1906 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (46/46) |
| 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 a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is specifically activated by mitogen-activated protein kinase kinase 5 (MAP2K5/MEK5). It is involved in the downstream signaling processes of various receptor molecules including receptor type kinases, and G protein-coupled receptors. In response to extracelluar signals, this kinase translocates to cell nucleus, where it regulates gene expression by phosphorylating, and activating different transcription factors. Four alternatively spliced transcript variants of this gene encoding two distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to embryonic growth retardation and midgestational lethality due to multiple developmental anomalies and vascular remodelling, cardiac development, and placental defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,263,164 (GRCm39) |
V708E |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,283,943 (GRCm39) |
Y82C |
probably benign |
Het |
| Cd82 |
T |
C |
2: 93,250,214 (GRCm39) |
Y266C |
probably damaging |
Het |
| Chrna4 |
A |
G |
2: 180,670,413 (GRCm39) |
S448P |
probably damaging |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Cmpk1 |
T |
C |
4: 114,820,559 (GRCm39) |
E180G |
probably benign |
Het |
| Dock8 |
T |
C |
19: 25,177,863 (GRCm39) |
I2066T |
probably damaging |
Het |
| Dock8 |
T |
C |
19: 25,042,754 (GRCm39) |
V112A |
probably benign |
Het |
| Fgf3 |
T |
C |
7: 144,394,444 (GRCm39) |
V86A |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,561,759 (GRCm39) |
I916T |
probably benign |
Het |
| Gsk3b |
T |
A |
16: 38,014,298 (GRCm39) |
L252Q |
probably damaging |
Het |
| Kif18a |
A |
G |
2: 109,118,466 (GRCm39) |
T94A |
probably damaging |
Het |
| Klhdc1 |
T |
A |
12: 69,315,000 (GRCm39) |
|
probably benign |
Het |
| Klhl25 |
T |
A |
7: 75,515,162 (GRCm39) |
F23I |
probably damaging |
Het |
| Mbd5 |
A |
T |
2: 49,169,776 (GRCm39) |
Q47L |
possibly damaging |
Het |
| Nrcam |
A |
G |
12: 44,623,558 (GRCm39) |
D1049G |
possibly damaging |
Het |
| Olfml2a |
G |
T |
2: 38,831,755 (GRCm39) |
M111I |
probably damaging |
Het |
| Or3a1c |
T |
C |
11: 74,046,025 (GRCm39) |
F15S |
probably damaging |
Het |
| Pld2 |
A |
T |
11: 70,432,160 (GRCm39) |
H93L |
probably damaging |
Het |
| Pomgnt2 |
T |
C |
9: 121,811,320 (GRCm39) |
E487G |
possibly damaging |
Het |
| Psg17 |
G |
T |
7: 18,550,717 (GRCm39) |
N379K |
probably benign |
Het |
| Rfk |
T |
A |
19: 17,375,959 (GRCm39) |
H84Q |
possibly damaging |
Het |
| Scn8a |
A |
G |
15: 100,881,784 (GRCm39) |
Y617C |
probably damaging |
Het |
| Sema3d |
T |
C |
5: 12,498,087 (GRCm39) |
F31S |
probably benign |
Het |
| Shq1 |
T |
C |
6: 100,647,889 (GRCm39) |
Y45C |
probably damaging |
Het |
| Siglecg |
C |
T |
7: 43,067,350 (GRCm39) |
P639L |
possibly damaging |
Het |
| Skp2 |
A |
T |
15: 9,117,034 (GRCm39) |
N325K |
probably benign |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Sp8 |
T |
A |
12: 118,812,938 (GRCm39) |
S264R |
possibly damaging |
Het |
| Sun1 |
T |
C |
5: 139,220,230 (GRCm39) |
|
probably benign |
Het |
| Tardbp |
A |
G |
4: 148,709,659 (GRCm39) |
V54A |
possibly damaging |
Het |
| Tert |
T |
A |
13: 73,775,594 (GRCm39) |
F115Y |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmem68 |
A |
T |
4: 3,569,534 (GRCm39) |
I52K |
probably benign |
Het |
| Trhde |
A |
T |
10: 114,339,028 (GRCm39) |
L594Q |
probably damaging |
Het |
| Umps |
A |
C |
16: 33,781,956 (GRCm39) |
V322G |
probably damaging |
Het |
| Vmn2r109 |
T |
C |
17: 20,773,286 (GRCm39) |
D445G |
probably benign |
Het |
| Vmn2r22 |
T |
C |
6: 123,614,817 (GRCm39) |
T258A |
possibly damaging |
Het |
| Vmn2r4 |
C |
T |
3: 64,322,590 (GRCm39) |
G43E |
probably damaging |
Het |
|
| Other mutations in Mapk7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01510:Mapk7
|
APN |
11 |
61,381,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02289:Mapk7
|
APN |
11 |
61,380,785 (GRCm39) |
splice site |
probably null |
|
|
IGL03108:Mapk7
|
APN |
11 |
61,382,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03342:Mapk7
|
APN |
11 |
61,382,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4340:Mapk7
|
UTSW |
11 |
61,381,032 (GRCm39) |
intron |
probably benign |
|
|
FR4589:Mapk7
|
UTSW |
11 |
61,381,048 (GRCm39) |
intron |
probably benign |
|
|
R1497:Mapk7
|
UTSW |
11 |
61,384,689 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1866:Mapk7
|
UTSW |
11 |
61,380,239 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2870:Mapk7
|
UTSW |
11 |
61,381,038 (GRCm39) |
intron |
probably benign |
|
|
R2871:Mapk7
|
UTSW |
11 |
61,381,038 (GRCm39) |
intron |
probably benign |
|
|
R2872:Mapk7
|
UTSW |
11 |
61,381,038 (GRCm39) |
intron |
probably benign |
|
|
R3831:Mapk7
|
UTSW |
11 |
61,380,680 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3832:Mapk7
|
UTSW |
11 |
61,380,680 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3833:Mapk7
|
UTSW |
11 |
61,380,680 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4378:Mapk7
|
UTSW |
11 |
61,384,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4642:Mapk7
|
UTSW |
11 |
61,381,727 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4692:Mapk7
|
UTSW |
11 |
61,380,068 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4718:Mapk7
|
UTSW |
11 |
61,380,080 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4755:Mapk7
|
UTSW |
11 |
61,381,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Mapk7
|
UTSW |
11 |
61,384,475 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4933:Mapk7
|
UTSW |
11 |
61,384,734 (GRCm39) |
unclassified |
probably benign |
|
|
R5825:Mapk7
|
UTSW |
11 |
61,381,207 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5875:Mapk7
|
UTSW |
11 |
61,384,524 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5910:Mapk7
|
UTSW |
11 |
61,384,447 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
|
R7201:Mapk7
|
UTSW |
11 |
61,379,998 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7465:Mapk7
|
UTSW |
11 |
61,381,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7797:Mapk7
|
UTSW |
11 |
61,380,241 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8867:Mapk7
|
UTSW |
11 |
61,384,632 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8953:Mapk7
|
UTSW |
11 |
61,383,792 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9243:Mapk7
|
UTSW |
11 |
61,384,535 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9394:Mapk7
|
UTSW |
11 |
61,381,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9671:Mapk7
|
UTSW |
11 |
61,382,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF031:Mapk7
|
UTSW |
11 |
61,381,060 (GRCm39) |
intron |
probably benign |
|
|
Z1177:Mapk7
|
UTSW |
11 |
61,382,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Mapk7
|
UTSW |
11 |
61,381,053 (GRCm39) |
intron |
probably benign |
|
|
Z1186:Mapk7
|
UTSW |
11 |
61,381,042 (GRCm39) |
intron |
probably benign |
|
|
Z1186:Mapk7
|
UTSW |
11 |
61,381,038 (GRCm39) |
intron |
probably benign |
|
|
Z1187:Mapk7
|
UTSW |
11 |
61,381,053 (GRCm39) |
intron |
probably benign |
|
|
Z1187:Mapk7
|
UTSW |
11 |
61,381,038 (GRCm39) |
intron |
probably benign |
|
|
Z1188:Mapk7
|
UTSW |
11 |
61,381,070 (GRCm39) |
intron |
probably benign |
|
|
Z1188:Mapk7
|
UTSW |
11 |
61,381,053 (GRCm39) |
intron |
probably benign |
|
|
Z1188:Mapk7
|
UTSW |
11 |
61,381,038 (GRCm39) |
intron |
probably benign |
|
|
Z1189:Mapk7
|
UTSW |
11 |
61,381,053 (GRCm39) |
intron |
probably benign |
|
|
Z1190:Mapk7
|
UTSW |
11 |
61,381,053 (GRCm39) |
intron |
probably benign |
|
|
Z1191:Mapk7
|
UTSW |
11 |
61,381,053 (GRCm39) |
intron |
probably benign |
|
|
Z1191:Mapk7
|
UTSW |
11 |
61,381,038 (GRCm39) |
intron |
probably benign |
|
|
Z1192:Mapk7
|
UTSW |
11 |
61,381,053 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTCTGAGATGAACCTGC -3'
(R):5'- TGTTCTCTGGCACTCCAAAGG -3'
Sequencing Primer
(F):5'- TCTGAGATGAACCTGCAGAGTAACTC -3'
(R):5'- CACTCCAAAGGGCAGTGG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation