Incidental Mutation 'R3735:Map3k6'
ID |
270049 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map3k6
|
Ensembl Gene |
ENSMUSG00000028862 |
Gene Name |
mitogen-activated protein kinase kinase kinase 6 |
Synonyms |
Ask2, MEKK6, MAPKKK6 |
MMRRC Submission |
040722-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.324)
|
Stock # |
R3735 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
132968129-132980240 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 132973683 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 458
(V458A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030677]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030677
AA Change: V458A
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000030677 Gene: ENSMUSG00000028862 AA Change: V458A
Domain | Start | End | E-Value | Type |
low complexity region
|
98 |
109 |
N/A |
INTRINSIC |
Pfam:DUF4071
|
130 |
508 |
2.3e-150 |
PFAM |
S_TKc
|
649 |
907 |
3.49e-87 |
SMART |
low complexity region
|
925 |
940 |
N/A |
INTRINSIC |
low complexity region
|
947 |
960 |
N/A |
INTRINSIC |
low complexity region
|
975 |
990 |
N/A |
INTRINSIC |
low complexity region
|
1130 |
1146 |
N/A |
INTRINSIC |
coiled coil region
|
1164 |
1195 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123612
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127681
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134895
|
Meta Mutation Damage Score |
0.0764 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
100% (71/71) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine protein kinase that forms a component of protein kinase-mediated signal transduction cascades. The encoded kinase participates in the regulation of vascular endothelial growth factor (VEGF) expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] PHENOTYPE: Homozygous and heterozygous null mice display an increased incidence of chemically induced skin tumors and homozygous mice also show resistance to induced apoptosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
C |
G |
4: 103,123,603 (GRCm39) |
E90Q |
probably damaging |
Het |
Acadl |
G |
A |
1: 66,892,448 (GRCm39) |
A125V |
probably benign |
Het |
Acot12 |
T |
A |
13: 91,932,465 (GRCm39) |
I487N |
probably benign |
Het |
Acox3 |
A |
G |
5: 35,768,497 (GRCm39) |
K686R |
probably benign |
Het |
Adam17 |
T |
C |
12: 21,375,413 (GRCm39) |
D802G |
probably benign |
Het |
Aoc3 |
A |
T |
11: 101,223,045 (GRCm39) |
D427V |
probably damaging |
Het |
Bivm |
C |
T |
1: 44,165,594 (GRCm39) |
H15Y |
probably benign |
Het |
C8a |
T |
C |
4: 104,674,812 (GRCm39) |
E509G |
probably benign |
Het |
Ccdc158 |
A |
C |
5: 92,780,283 (GRCm39) |
L930R |
possibly damaging |
Het |
Cdca7 |
T |
A |
2: 72,314,209 (GRCm39) |
|
probably null |
Het |
Cep170b |
A |
T |
12: 112,707,438 (GRCm39) |
I395F |
probably damaging |
Het |
Champ1 |
T |
C |
8: 13,928,735 (GRCm39) |
S298P |
probably damaging |
Het |
Cimip2c |
A |
T |
5: 30,639,442 (GRCm39) |
Y123F |
probably benign |
Het |
Cyp2j8 |
T |
A |
4: 96,332,836 (GRCm39) |
R503S |
probably damaging |
Het |
Dcaf10 |
C |
T |
4: 45,348,117 (GRCm39) |
T191I |
probably benign |
Het |
Dido1 |
A |
G |
2: 180,325,829 (GRCm39) |
|
probably benign |
Het |
Dnah7b |
C |
T |
1: 46,339,035 (GRCm39) |
T3361I |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,598,109 (GRCm39) |
V1767I |
probably benign |
Het |
Eml5 |
G |
A |
12: 98,822,248 (GRCm39) |
T721I |
possibly damaging |
Het |
F8 |
G |
A |
X: 74,254,981 (GRCm39) |
P2138S |
probably damaging |
Het |
Fam169b |
G |
T |
7: 68,000,049 (GRCm39) |
R198S |
probably damaging |
Het |
Gm7694 |
A |
G |
1: 170,130,330 (GRCm39) |
S23P |
probably damaging |
Het |
Grk3 |
T |
A |
5: 113,101,697 (GRCm39) |
T248S |
probably benign |
Het |
Helq |
T |
G |
5: 100,938,054 (GRCm39) |
D464A |
possibly damaging |
Het |
Ido2 |
C |
T |
8: 25,025,209 (GRCm39) |
V273M |
probably damaging |
Het |
Il12rb1 |
T |
C |
8: 71,269,862 (GRCm39) |
L518P |
probably damaging |
Het |
Irag2 |
G |
A |
6: 145,106,596 (GRCm39) |
|
probably benign |
Het |
Kansl1l |
A |
G |
1: 66,840,409 (GRCm39) |
V297A |
possibly damaging |
Het |
Kcnj10 |
A |
G |
1: 172,197,533 (GRCm39) |
Y349C |
possibly damaging |
Het |
Krt18 |
A |
G |
15: 101,936,936 (GRCm39) |
T75A |
probably benign |
Het |
Lrp4 |
A |
T |
2: 91,328,716 (GRCm39) |
I1539F |
probably damaging |
Het |
Med12l |
T |
A |
3: 58,998,916 (GRCm39) |
H614Q |
probably damaging |
Het |
Med13 |
A |
C |
11: 86,170,484 (GRCm39) |
M1850R |
probably benign |
Het |
Mfsd13a |
A |
G |
19: 46,356,767 (GRCm39) |
Y256C |
probably damaging |
Het |
Mogs |
C |
A |
6: 83,093,757 (GRCm39) |
T242K |
possibly damaging |
Het |
Myo9b |
T |
C |
8: 71,801,241 (GRCm39) |
V1133A |
probably benign |
Het |
Myom2 |
A |
T |
8: 15,119,676 (GRCm39) |
H144L |
probably benign |
Het |
Ncapg |
A |
T |
5: 45,853,469 (GRCm39) |
Q906L |
probably benign |
Het |
Nkx1-1 |
C |
T |
5: 33,591,074 (GRCm39) |
V83I |
unknown |
Het |
Npy4r |
T |
A |
14: 33,869,226 (GRCm39) |
T21S |
probably benign |
Het |
Nup88 |
A |
G |
11: 70,847,018 (GRCm39) |
S331P |
probably damaging |
Het |
Olr1 |
T |
A |
6: 129,476,838 (GRCm39) |
|
probably benign |
Het |
Or4k44 |
T |
A |
2: 111,368,241 (GRCm39) |
H131L |
probably damaging |
Het |
Osmr |
A |
T |
15: 6,851,561 (GRCm39) |
Y656N |
probably damaging |
Het |
Otogl |
A |
T |
10: 107,735,390 (GRCm39) |
Y131* |
probably null |
Het |
Pgr |
G |
A |
9: 8,901,534 (GRCm39) |
G356S |
probably damaging |
Het |
Prdm2 |
T |
C |
4: 142,860,929 (GRCm39) |
E787G |
probably damaging |
Het |
Prpf18 |
A |
G |
2: 4,648,484 (GRCm39) |
I114T |
probably benign |
Het |
R3hdm2 |
T |
A |
10: 127,300,879 (GRCm39) |
I280N |
probably benign |
Het |
Rims4 |
T |
C |
2: 163,705,905 (GRCm39) |
D243G |
possibly damaging |
Het |
Rmnd5a |
T |
C |
6: 71,373,846 (GRCm39) |
D316G |
possibly damaging |
Het |
Rpap2 |
T |
C |
5: 107,803,017 (GRCm39) |
|
probably benign |
Het |
Sdr16c5 |
G |
A |
4: 4,005,614 (GRCm39) |
T240I |
probably benign |
Het |
Shroom3 |
T |
C |
5: 93,112,303 (GRCm39) |
V1888A |
possibly damaging |
Het |
Slc36a4 |
T |
A |
9: 15,649,569 (GRCm39) |
Y466* |
probably null |
Het |
Slco3a1 |
A |
G |
7: 74,154,245 (GRCm39) |
I80T |
probably damaging |
Het |
Sptlc2 |
G |
A |
12: 87,388,339 (GRCm39) |
A381V |
probably benign |
Het |
Stam |
A |
T |
2: 14,133,823 (GRCm39) |
Q190L |
probably damaging |
Het |
Suclg2 |
T |
A |
6: 95,474,677 (GRCm39) |
I363F |
probably damaging |
Het |
Tacstd2 |
A |
G |
6: 67,511,843 (GRCm39) |
V283A |
probably damaging |
Het |
Tln1 |
G |
T |
4: 43,549,370 (GRCm39) |
A616E |
probably damaging |
Het |
Trdmt1 |
A |
T |
2: 13,524,684 (GRCm39) |
F257Y |
possibly damaging |
Het |
Trip12 |
TATACATACATACATACATACATACATACATAC |
TATACATACATACATACATACATACATACATACATAC |
1: 84,792,511 (GRCm39) |
|
probably null |
Het |
Trps1 |
A |
G |
15: 50,709,456 (GRCm39) |
I298T |
possibly damaging |
Het |
Tti2 |
T |
C |
8: 31,645,925 (GRCm39) |
L413P |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,354,228 (GRCm39) |
V343A |
probably damaging |
Het |
Vwf |
G |
T |
6: 125,565,576 (GRCm39) |
W288L |
probably damaging |
Het |
Zfp629 |
T |
A |
7: 127,211,950 (GRCm39) |
|
probably benign |
Het |
Zfp873 |
G |
A |
10: 81,897,015 (GRCm39) |
S582N |
probably benign |
Het |
Zfp979 |
A |
G |
4: 147,697,939 (GRCm39) |
Y257H |
possibly damaging |
Het |
Zfpm1 |
G |
A |
8: 123,050,475 (GRCm39) |
C117Y |
possibly damaging |
Het |
|
Other mutations in Map3k6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00922:Map3k6
|
APN |
4 |
132,970,355 (GRCm39) |
splice site |
probably benign |
|
IGL01060:Map3k6
|
APN |
4 |
132,974,613 (GRCm39) |
splice site |
probably null |
|
IGL01116:Map3k6
|
APN |
4 |
132,974,439 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01341:Map3k6
|
APN |
4 |
132,975,371 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02383:Map3k6
|
APN |
4 |
132,973,932 (GRCm39) |
splice site |
probably null |
|
IGL03090:Map3k6
|
APN |
4 |
132,970,677 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03096:Map3k6
|
APN |
4 |
132,978,656 (GRCm39) |
nonsense |
probably null |
|
IGL03149:Map3k6
|
APN |
4 |
132,976,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R0110:Map3k6
|
UTSW |
4 |
132,971,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R0142:Map3k6
|
UTSW |
4 |
132,978,257 (GRCm39) |
missense |
probably benign |
|
R0189:Map3k6
|
UTSW |
4 |
132,974,252 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0368:Map3k6
|
UTSW |
4 |
132,979,970 (GRCm39) |
missense |
probably benign |
0.23 |
R0417:Map3k6
|
UTSW |
4 |
132,975,393 (GRCm39) |
nonsense |
probably null |
|
R0595:Map3k6
|
UTSW |
4 |
132,968,574 (GRCm39) |
missense |
probably damaging |
0.98 |
R0597:Map3k6
|
UTSW |
4 |
132,972,863 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0699:Map3k6
|
UTSW |
4 |
132,975,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R1099:Map3k6
|
UTSW |
4 |
132,974,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R1113:Map3k6
|
UTSW |
4 |
132,973,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R1308:Map3k6
|
UTSW |
4 |
132,973,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R1607:Map3k6
|
UTSW |
4 |
132,979,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R2217:Map3k6
|
UTSW |
4 |
132,973,983 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3734:Map3k6
|
UTSW |
4 |
132,975,707 (GRCm39) |
missense |
possibly damaging |
0.79 |
R3743:Map3k6
|
UTSW |
4 |
132,972,384 (GRCm39) |
missense |
probably benign |
0.26 |
R4244:Map3k6
|
UTSW |
4 |
132,979,258 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4245:Map3k6
|
UTSW |
4 |
132,979,258 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4465:Map3k6
|
UTSW |
4 |
132,973,644 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4482:Map3k6
|
UTSW |
4 |
132,970,710 (GRCm39) |
missense |
probably benign |
0.00 |
R4827:Map3k6
|
UTSW |
4 |
132,976,160 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5092:Map3k6
|
UTSW |
4 |
132,979,054 (GRCm39) |
missense |
probably benign |
0.00 |
R5110:Map3k6
|
UTSW |
4 |
132,974,859 (GRCm39) |
intron |
probably benign |
|
R5258:Map3k6
|
UTSW |
4 |
132,974,953 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5369:Map3k6
|
UTSW |
4 |
132,974,992 (GRCm39) |
missense |
probably damaging |
0.99 |
R5642:Map3k6
|
UTSW |
4 |
132,972,855 (GRCm39) |
missense |
probably damaging |
0.99 |
R5648:Map3k6
|
UTSW |
4 |
132,970,646 (GRCm39) |
missense |
probably benign |
0.25 |
R6102:Map3k6
|
UTSW |
4 |
132,974,442 (GRCm39) |
critical splice donor site |
probably null |
|
R6144:Map3k6
|
UTSW |
4 |
132,972,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R6476:Map3k6
|
UTSW |
4 |
132,977,397 (GRCm39) |
missense |
probably damaging |
0.98 |
R6511:Map3k6
|
UTSW |
4 |
132,975,389 (GRCm39) |
missense |
probably damaging |
0.98 |
R6522:Map3k6
|
UTSW |
4 |
132,977,335 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6706:Map3k6
|
UTSW |
4 |
132,978,250 (GRCm39) |
nonsense |
probably null |
|
R6874:Map3k6
|
UTSW |
4 |
132,977,967 (GRCm39) |
missense |
probably benign |
0.02 |
R7069:Map3k6
|
UTSW |
4 |
132,979,023 (GRCm39) |
missense |
probably benign |
0.01 |
R7216:Map3k6
|
UTSW |
4 |
132,974,211 (GRCm39) |
missense |
probably damaging |
0.99 |
R7417:Map3k6
|
UTSW |
4 |
132,975,707 (GRCm39) |
missense |
probably benign |
0.43 |
R7538:Map3k6
|
UTSW |
4 |
132,979,238 (GRCm39) |
missense |
probably benign |
|
R7569:Map3k6
|
UTSW |
4 |
132,977,388 (GRCm39) |
missense |
probably benign |
0.04 |
R8003:Map3k6
|
UTSW |
4 |
132,976,193 (GRCm39) |
missense |
probably benign |
0.05 |
R8407:Map3k6
|
UTSW |
4 |
132,974,904 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8817:Map3k6
|
UTSW |
4 |
132,974,071 (GRCm39) |
missense |
probably benign |
0.00 |
R8939:Map3k6
|
UTSW |
4 |
132,979,954 (GRCm39) |
unclassified |
probably benign |
|
R9285:Map3k6
|
UTSW |
4 |
132,972,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R9308:Map3k6
|
UTSW |
4 |
132,970,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R9400:Map3k6
|
UTSW |
4 |
132,968,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R9401:Map3k6
|
UTSW |
4 |
132,968,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R9573:Map3k6
|
UTSW |
4 |
132,979,774 (GRCm39) |
missense |
probably damaging |
0.99 |
R9677:Map3k6
|
UTSW |
4 |
132,968,427 (GRCm39) |
missense |
probably benign |
0.04 |
R9682:Map3k6
|
UTSW |
4 |
132,975,419 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9745:Map3k6
|
UTSW |
4 |
132,979,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R9751:Map3k6
|
UTSW |
4 |
132,979,168 (GRCm39) |
critical splice acceptor site |
probably null |
|
Z1088:Map3k6
|
UTSW |
4 |
132,972,377 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- ATATCCATGCTCCTGTGCGTG -3'
(R):5'- GATACGGGCATCACATACCACG -3'
Sequencing Primer
(F):5'- GGGACCCACACTTGAGCCTTAC -3'
(R):5'- TCACATACCACGAACAGAGGGG -3'
|
Posted On |
2015-03-18 |