Incidental Mutation 'R6391:Map2k6'
| ID |
515776 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map2k6
|
| Ensembl Gene |
ENSMUSG00000020623 |
| Gene Name |
mitogen-activated protein kinase kinase 6 |
| Synonyms |
MAP kinase kinase 6, SAPKK3, MKK6, Prkmk6 |
| MMRRC Submission |
044540-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6391 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
110289948-110416348 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 110381703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097831
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020949]
[ENSMUST00000020949]
[ENSMUST00000100260]
[ENSMUST00000100260]
|
| AlphaFold |
P70236 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020949
|
| SMART Domains |
Protein: ENSMUSP00000020949
Gene: ENSMUSG00000020623
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
53 |
314 |
2.82e-73 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000020949
|
| SMART Domains |
Protein: ENSMUSP00000020949
Gene: ENSMUSG00000020623
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
53 |
314 |
2.82e-73 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100260
|
| SMART Domains |
Protein: ENSMUSP00000097831
Gene: ENSMUSG00000020623
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
53 |
288 |
4.3e-47 |
PFAM |
|
Pfam:Pkinase_Tyr
|
53 |
289 |
1.2e-32 |
PFAM |
|
Pfam:Kinase-like
|
57 |
274 |
7.3e-8 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100260
|
| SMART Domains |
Protein: ENSMUSP00000097831
Gene: ENSMUSG00000020623
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
53 |
288 |
4.3e-47 |
PFAM |
|
Pfam:Pkinase_Tyr
|
53 |
289 |
1.2e-32 |
PFAM |
|
Pfam:Kinase-like
|
57 |
274 |
7.3e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133920
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146540
|
| Meta Mutation Damage Score |
0.9497 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the dual specificity protein kinase family, which functions as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein phosphorylates and activates p38 MAP kinase in response to inflammatory cytokines or environmental stress. As an essential component of p38 MAP kinase mediated signal transduction pathway, this gene is involved in many cellular processes such as stress induced cell cycle arrest, transcription activation and apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for null targeted mutations of this gene are viable, grow normally and have no gross physical or histologic abnormalities. [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 |
|---|
| Bcl7b |
G |
T |
5: 135,208,879 (GRCm39) |
S114I |
probably damaging |
Het |
| Cct8 |
A |
T |
16: 87,284,566 (GRCm39) |
M207K |
probably benign |
Het |
| Cnga1 |
A |
G |
5: 72,769,702 (GRCm39) |
|
probably null |
Het |
| Cst13 |
T |
C |
2: 148,670,111 (GRCm39) |
C94R |
probably damaging |
Het |
| Cyp8b1 |
G |
T |
9: 121,744,864 (GRCm39) |
S156* |
probably null |
Het |
| Dip2b |
T |
C |
15: 100,049,157 (GRCm39) |
S184P |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,659,984 (GRCm39) |
W516R |
probably damaging |
Het |
| Dock8 |
A |
T |
19: 25,072,914 (GRCm39) |
Y398F |
possibly damaging |
Het |
| Drosha |
T |
A |
15: 12,889,803 (GRCm39) |
C890* |
probably null |
Het |
| Eed |
A |
G |
7: 89,626,149 (GRCm39) |
S75P |
probably benign |
Het |
| Efcab3 |
T |
C |
11: 104,885,143 (GRCm39) |
L4134S |
possibly damaging |
Het |
| Etaa1 |
A |
C |
11: 17,896,833 (GRCm39) |
I428S |
probably benign |
Het |
| F5 |
A |
T |
1: 164,021,062 (GRCm39) |
D1179V |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,405,379 (GRCm39) |
V710A |
possibly damaging |
Het |
| Fmo4 |
G |
A |
1: 162,621,538 (GRCm39) |
Q558* |
probably null |
Het |
| Gm7361 |
A |
G |
5: 26,463,960 (GRCm39) |
I72V |
probably benign |
Het |
| Grm4 |
A |
G |
17: 27,654,294 (GRCm39) |
V552A |
probably benign |
Het |
| Krt13 |
T |
A |
11: 100,010,202 (GRCm39) |
I260F |
probably damaging |
Het |
| Krtap3-3 |
T |
C |
11: 99,441,490 (GRCm39) |
D49G |
probably damaging |
Het |
| Lpin1 |
T |
C |
12: 16,614,554 (GRCm39) |
E409G |
probably benign |
Het |
| Ly9 |
A |
G |
1: 171,428,576 (GRCm39) |
V238A |
possibly damaging |
Het |
| Mylk2 |
T |
C |
2: 152,759,315 (GRCm39) |
L362P |
probably damaging |
Het |
| Or4c120 |
T |
A |
2: 89,000,942 (GRCm39) |
I205F |
probably benign |
Het |
| Or4c3 |
A |
G |
2: 89,851,975 (GRCm39) |
V145A |
probably benign |
Het |
| Or51a6 |
T |
A |
7: 102,604,622 (GRCm39) |
Y69F |
possibly damaging |
Het |
| Pcdha9 |
G |
A |
18: 37,130,972 (GRCm39) |
V14M |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,578,418 (GRCm39) |
E380D |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,239,364 (GRCm39) |
Y739H |
possibly damaging |
Het |
| Pigk |
A |
G |
3: 152,446,486 (GRCm39) |
H195R |
probably benign |
Het |
| Plin2 |
T |
C |
4: 86,580,236 (GRCm39) |
D175G |
probably null |
Het |
| Plk4 |
T |
A |
3: 40,763,408 (GRCm39) |
H526Q |
probably benign |
Het |
| Pom121l12 |
A |
T |
11: 14,549,489 (GRCm39) |
D65V |
probably damaging |
Het |
| Prb1a |
T |
C |
6: 132,184,139 (GRCm39) |
Y498C |
unknown |
Het |
| Sh3bp2 |
G |
A |
5: 34,718,947 (GRCm39) |
V495I |
probably damaging |
Het |
| Slx4ip |
T |
A |
2: 136,888,669 (GRCm39) |
C117S |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,409,551 (GRCm39) |
S20R |
probably benign |
Het |
| Unc79 |
A |
G |
12: 102,987,269 (GRCm39) |
Y186C |
probably damaging |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,038,348 (GRCm39) |
L641P |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,114,495 (GRCm39) |
S674T |
probably benign |
Het |
| Zfp959 |
T |
C |
17: 56,202,854 (GRCm39) |
F10L |
probably damaging |
Het |
|
| Other mutations in Map2k6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01336:Map2k6
|
APN |
11 |
110,387,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01778:Map2k6
|
APN |
11 |
110,403,695 (GRCm39) |
intron |
probably benign |
|
|
IGL02058:Map2k6
|
APN |
11 |
110,383,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02580:Map2k6
|
APN |
11 |
110,381,667 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03139:Map2k6
|
APN |
11 |
110,387,299 (GRCm39) |
splice site |
probably benign |
|
|
Heartening
|
UTSW |
11 |
110,383,734 (GRCm39) |
missense |
|
|
|
Uplifting
|
UTSW |
11 |
110,383,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0230:Map2k6
|
UTSW |
11 |
110,387,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0361:Map2k6
|
UTSW |
11 |
110,390,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0634:Map2k6
|
UTSW |
11 |
110,385,169 (GRCm39) |
nonsense |
probably null |
|
|
R1716:Map2k6
|
UTSW |
11 |
110,388,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2214:Map2k6
|
UTSW |
11 |
110,387,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2279:Map2k6
|
UTSW |
11 |
110,390,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4610:Map2k6
|
UTSW |
11 |
110,390,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4677:Map2k6
|
UTSW |
11 |
110,290,220 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5299:Map2k6
|
UTSW |
11 |
110,383,789 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5761:Map2k6
|
UTSW |
11 |
110,290,197 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5996:Map2k6
|
UTSW |
11 |
110,388,732 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6529:Map2k6
|
UTSW |
11 |
110,383,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7020:Map2k6
|
UTSW |
11 |
110,397,540 (GRCm39) |
intron |
probably benign |
|
|
R7345:Map2k6
|
UTSW |
11 |
110,383,734 (GRCm39) |
missense |
|
|
|
R7681:Map2k6
|
UTSW |
11 |
110,388,729 (GRCm39) |
nonsense |
probably null |
|
|
R7980:Map2k6
|
UTSW |
11 |
110,390,210 (GRCm39) |
missense |
|
|
|
R8087:Map2k6
|
UTSW |
11 |
110,381,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8093:Map2k6
|
UTSW |
11 |
110,373,411 (GRCm39) |
missense |
probably benign |
|
|
R8531:Map2k6
|
UTSW |
11 |
110,290,175 (GRCm39) |
start gained |
probably benign |
|
|
R8834:Map2k6
|
UTSW |
11 |
110,383,419 (GRCm39) |
nonsense |
probably null |
|
|
R9028:Map2k6
|
UTSW |
11 |
110,388,799 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGGGTAGCCTACTCGGTG -3'
(R):5'- CAGCACTTCGACATAATCAAGG -3'
Sequencing Primer
(F):5'- GTAGCCTACTCGGTGTCCTG -3'
(R):5'- AGGAGATCTAAAGCCCTCTTCTG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation