Incidental Mutation 'R6144:Map3k6'
| ID |
488727 |
| 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 |
044291-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.324)
|
| Stock # |
R6144 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
132968129-132980240 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 132972986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Glycine
at position 382
(W382G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030677]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030677
AA Change: W382G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862
AA Change: W382G
| 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
|
| Meta Mutation Damage Score |
0.7973 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
96% (65/68) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3300002I08Rik |
A |
T |
2: 150,186,564 (GRCm39) |
D40E |
possibly damaging |
Het |
| 4921517D22Rik |
C |
T |
13: 59,837,347 (GRCm39) |
R246H |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,069,832 (GRCm39) |
T203A |
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,600,056 (GRCm39) |
D2096E |
probably damaging |
Het |
| Ankrd53 |
T |
C |
6: 83,739,639 (GRCm39) |
|
probably benign |
Het |
| Arap3 |
C |
A |
18: 38,118,486 (GRCm39) |
G814C |
probably damaging |
Het |
| Armc9 |
T |
G |
1: 86,172,301 (GRCm39) |
I5S |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,910,120 (GRCm39) |
T74A |
probably damaging |
Het |
| Cdca7l |
T |
A |
12: 117,837,446 (GRCm39) |
|
probably null |
Het |
| Cfhr2 |
T |
A |
1: 139,733,153 (GRCm39) |
|
probably benign |
Het |
| Chpt1 |
A |
G |
10: 88,288,955 (GRCm39) |
|
probably benign |
Het |
| Cntrl |
A |
C |
2: 35,055,745 (GRCm39) |
D1213A |
possibly damaging |
Het |
| Col7a1 |
C |
T |
9: 108,803,148 (GRCm39) |
R2149C |
unknown |
Het |
| Cpa4 |
T |
C |
6: 30,585,082 (GRCm39) |
S289P |
probably damaging |
Het |
| Cpsf3 |
G |
A |
12: 21,356,887 (GRCm39) |
|
probably null |
Het |
| Creb3l1 |
T |
C |
2: 91,822,350 (GRCm39) |
H212R |
possibly damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyp2c29 |
A |
G |
19: 39,310,053 (GRCm39) |
D254G |
possibly damaging |
Het |
| Dennd1b |
A |
G |
1: 139,008,993 (GRCm39) |
H232R |
probably damaging |
Het |
| Dhx29 |
T |
C |
13: 113,101,105 (GRCm39) |
L1216P |
probably damaging |
Het |
| Dsg1b |
T |
C |
18: 20,529,476 (GRCm39) |
I307T |
possibly damaging |
Het |
| Ep300 |
A |
G |
15: 81,485,435 (GRCm39) |
S141G |
unknown |
Het |
| Evl |
A |
C |
12: 108,619,290 (GRCm39) |
K101T |
probably damaging |
Het |
| Exph5 |
G |
A |
9: 53,284,328 (GRCm39) |
G470R |
probably benign |
Het |
| Flg |
A |
T |
3: 93,190,515 (GRCm39) |
|
probably benign |
Het |
| Gm45704 |
T |
A |
8: 73,510,920 (GRCm39) |
|
|
Het |
| Grm1 |
T |
C |
10: 10,955,640 (GRCm39) |
M215V |
probably benign |
Het |
| Hadha |
T |
C |
5: 30,345,994 (GRCm39) |
D210G |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,598,175 (GRCm39) |
Y1709C |
probably damaging |
Het |
| Hrc |
A |
T |
7: 44,986,157 (GRCm39) |
H436L |
possibly damaging |
Het |
| Hycc1 |
T |
C |
5: 24,171,367 (GRCm39) |
S352G |
possibly damaging |
Het |
| Ido1 |
T |
A |
8: 25,075,306 (GRCm39) |
T259S |
possibly damaging |
Het |
| Itgb7 |
C |
A |
15: 102,131,917 (GRCm39) |
R222L |
probably benign |
Het |
| Khnyn |
T |
C |
14: 56,125,296 (GRCm39) |
V485A |
probably damaging |
Het |
| Kifc5b |
T |
C |
17: 27,140,826 (GRCm39) |
V100A |
probably benign |
Het |
| Lsm10 |
T |
C |
4: 125,991,794 (GRCm39) |
M50T |
probably damaging |
Het |
| Mink1 |
T |
A |
11: 70,501,478 (GRCm39) |
F922I |
possibly damaging |
Het |
| Mrap2 |
T |
C |
9: 87,057,871 (GRCm39) |
V53A |
probably damaging |
Het |
| Mrps7 |
C |
A |
11: 115,495,000 (GRCm39) |
A5E |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,587,298 (GRCm39) |
N2713S |
possibly damaging |
Het |
| Nckipsd |
T |
C |
9: 108,689,585 (GRCm39) |
S249P |
probably damaging |
Het |
| Neil3 |
T |
C |
8: 54,052,447 (GRCm39) |
T384A |
probably benign |
Het |
| Noc3l |
A |
T |
19: 38,787,399 (GRCm39) |
I504K |
probably damaging |
Het |
| Nudt13 |
A |
G |
14: 20,357,839 (GRCm39) |
N107S |
probably benign |
Het |
| Or11h4b |
C |
A |
14: 50,918,392 (GRCm39) |
R233L |
probably benign |
Het |
| Or2n1 |
T |
A |
17: 38,486,116 (GRCm39) |
L47H |
probably damaging |
Het |
| Or5c1 |
T |
A |
2: 37,222,125 (GRCm39) |
M122K |
probably damaging |
Het |
| Otub1 |
G |
T |
19: 7,176,518 (GRCm39) |
Y205* |
probably null |
Het |
| Pals1 |
T |
C |
12: 78,871,563 (GRCm39) |
V381A |
possibly damaging |
Het |
| Pierce2 |
C |
A |
9: 72,887,270 (GRCm39) |
C79F |
probably damaging |
Het |
| Plpp7 |
T |
A |
2: 31,986,100 (GRCm39) |
S93T |
probably damaging |
Het |
| Pxk |
T |
G |
14: 8,138,011 (GRCm38) |
Y188D |
probably damaging |
Het |
| Rigi |
T |
C |
4: 40,229,551 (GRCm39) |
I78V |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rpap1 |
A |
T |
2: 119,603,128 (GRCm39) |
C602* |
probably null |
Het |
| Sbds |
T |
C |
5: 130,275,185 (GRCm39) |
K248E |
probably benign |
Het |
| Serpina10 |
A |
T |
12: 103,595,092 (GRCm39) |
N42K |
probably benign |
Het |
| Slc7a8 |
A |
G |
14: 54,966,797 (GRCm39) |
L368P |
probably damaging |
Het |
| Srrm1 |
T |
C |
4: 135,065,184 (GRCm39) |
|
probably benign |
Het |
| Sun2 |
C |
T |
15: 79,614,533 (GRCm39) |
V288I |
probably benign |
Het |
| Tas2r107 |
C |
A |
6: 131,636,966 (GRCm39) |
A28S |
possibly damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,037,155 (GRCm39) |
I268T |
probably benign |
Het |
| Tjp2 |
A |
G |
19: 24,097,437 (GRCm39) |
F495L |
probably damaging |
Het |
| Top2b |
T |
C |
14: 16,423,740 (GRCm38) |
L1434P |
possibly damaging |
Het |
| Top3b |
A |
G |
16: 16,697,005 (GRCm39) |
|
probably null |
Het |
| Trdv2-2 |
A |
T |
14: 54,198,761 (GRCm39) |
E17V |
possibly damaging |
Het |
| Ttc6 |
T |
A |
12: 57,719,886 (GRCm39) |
L819Q |
possibly damaging |
Het |
| Txlnb |
A |
G |
10: 17,718,914 (GRCm39) |
T582A |
probably benign |
Het |
| Zfp788 |
T |
C |
7: 41,299,193 (GRCm39) |
S558P |
probably 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 |
|
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 |
|
|
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 |
|
|
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'- ACAGGTCTTCAGTGCATGTTCC -3'
(R):5'- TCAGAGTCTTCGAAATGCTGCC -3'
Sequencing Primer
(F):5'- AGTGCATGTTCCTCCGCCTTAG -3'
(R):5'- TGCCCAGCTGCAATGAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation