Incidental Mutation 'R5258:Map3k6'
ID |
401226 |
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 |
042828-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.324)
|
Stock # |
R5258 (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 132974953 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 662
(V662A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030677]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030677
AA Change: V662A
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000030677 Gene: ENSMUSG00000028862 AA Change: V662A
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 |
0.1619 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
98% (55/56) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
A |
14: 32,385,266 (GRCm39) |
D233V |
probably damaging |
Het |
Abca13 |
A |
T |
11: 9,199,684 (GRCm39) |
T128S |
possibly damaging |
Het |
Abca16 |
T |
G |
7: 120,035,992 (GRCm39) |
|
probably null |
Het |
Abcc8 |
T |
C |
7: 45,757,811 (GRCm39) |
I1313V |
probably benign |
Het |
Abcc8 |
C |
T |
7: 45,806,572 (GRCm39) |
V379I |
probably benign |
Het |
Acp3 |
T |
C |
9: 104,186,674 (GRCm39) |
I266V |
probably benign |
Het |
Asf1b |
C |
T |
8: 84,695,896 (GRCm39) |
T179I |
probably benign |
Het |
B3gnt7 |
A |
G |
1: 86,233,287 (GRCm39) |
K61E |
possibly damaging |
Het |
Card11 |
G |
A |
5: 140,862,180 (GRCm39) |
P1039L |
possibly damaging |
Het |
Cd1d2 |
C |
G |
3: 86,894,954 (GRCm39) |
R147G |
possibly damaging |
Het |
Cfap68 |
T |
C |
9: 50,675,633 (GRCm39) |
|
probably benign |
Het |
Cfap69 |
T |
C |
5: 5,654,271 (GRCm39) |
|
probably null |
Het |
Ddx46 |
T |
C |
13: 55,800,837 (GRCm39) |
F331L |
possibly damaging |
Het |
Dkk4 |
C |
A |
8: 23,117,031 (GRCm39) |
L215I |
probably damaging |
Het |
Dnhd1 |
C |
T |
7: 105,323,244 (GRCm39) |
T584I |
probably benign |
Het |
Dock3 |
T |
C |
9: 106,874,124 (GRCm39) |
Y449C |
probably damaging |
Het |
Foxi2 |
C |
T |
7: 135,012,256 (GRCm39) |
T48M |
probably benign |
Het |
Gm12887 |
T |
C |
4: 121,472,897 (GRCm39) |
K82E |
probably benign |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Igkv4-80 |
T |
A |
6: 68,993,811 (GRCm39) |
T27S |
probably benign |
Het |
Invs |
A |
G |
4: 48,396,374 (GRCm39) |
D349G |
possibly damaging |
Het |
Lbhd1 |
A |
G |
19: 8,861,453 (GRCm39) |
|
probably benign |
Het |
Lipo3 |
T |
A |
19: 33,591,243 (GRCm39) |
|
probably benign |
Het |
Llgl1 |
G |
C |
11: 60,602,389 (GRCm39) |
|
probably null |
Het |
Lyzl6 |
T |
A |
11: 103,525,899 (GRCm39) |
I74F |
probably damaging |
Het |
Megf8 |
T |
A |
7: 25,047,751 (GRCm39) |
F1645I |
possibly damaging |
Het |
Mfsd4b2 |
T |
A |
10: 39,798,017 (GRCm39) |
M113L |
probably benign |
Het |
Mib1 |
G |
A |
18: 10,795,856 (GRCm39) |
|
probably null |
Het |
Mrps6 |
T |
A |
16: 91,896,543 (GRCm39) |
V36E |
probably damaging |
Het |
Nhsl1 |
C |
A |
10: 18,400,070 (GRCm39) |
S432* |
probably null |
Het |
Nle1 |
T |
C |
11: 82,795,772 (GRCm39) |
D225G |
probably damaging |
Het |
Nlrp4c |
T |
A |
7: 6,069,622 (GRCm39) |
S508T |
probably benign |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or5d37 |
A |
T |
2: 87,923,762 (GRCm39) |
Y173N |
probably benign |
Het |
P2rx7 |
A |
G |
5: 122,819,066 (GRCm39) |
E496G |
probably damaging |
Het |
Prdm16 |
A |
T |
4: 154,451,671 (GRCm39) |
D179E |
possibly damaging |
Het |
Psca |
A |
T |
15: 74,588,240 (GRCm39) |
I56F |
probably damaging |
Het |
Ptprg |
A |
G |
14: 12,142,431 (GRCm38) |
T361A |
probably benign |
Het |
Ptrhd1 |
A |
G |
12: 4,286,481 (GRCm39) |
Y124C |
probably damaging |
Het |
Sesn1 |
C |
T |
10: 41,770,984 (GRCm39) |
P172S |
probably benign |
Het |
Sspo |
T |
C |
6: 48,453,428 (GRCm39) |
V2872A |
probably damaging |
Het |
Stard9 |
T |
A |
2: 120,529,824 (GRCm39) |
L2027H |
probably damaging |
Het |
Tas2r114 |
T |
A |
6: 131,666,504 (GRCm39) |
I175F |
probably benign |
Het |
Tex2 |
T |
A |
11: 106,458,585 (GRCm39) |
|
probably benign |
Het |
Tfdp1 |
C |
T |
8: 13,419,529 (GRCm39) |
T86M |
possibly damaging |
Het |
Trav14-1 |
C |
T |
14: 53,791,730 (GRCm39) |
H27Y |
probably benign |
Het |
Trim24 |
A |
T |
6: 37,896,335 (GRCm39) |
Q264L |
probably benign |
Het |
Vmn2r90 |
A |
G |
17: 17,933,114 (GRCm39) |
I225V |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,794,567 (GRCm39) |
T2326A |
possibly damaging |
Het |
Zfp354b |
A |
C |
11: 50,813,917 (GRCm39) |
I336S |
probably benign |
Het |
Zfp407 |
C |
T |
18: 84,334,051 (GRCm39) |
V1761I |
probably damaging |
Het |
Zfp958 |
A |
T |
8: 4,678,456 (GRCm39) |
E160D |
probably benign |
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 |
R3735:Map3k6
|
UTSW |
4 |
132,973,683 (GRCm39) |
missense |
probably benign |
0.21 |
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 |
|
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'- TGGTGATGAATCCGGATTCCTC -3'
(R):5'- TGCCCACAATCAGTCAGTTCTC -3'
Sequencing Primer
(F):5'- GATTCCTCCGCGCCCAC -3'
(R):5'- TGTTTCCTCAACAGACAGACAGATAG -3'
|
Posted On |
2016-07-06 |