Incidental Mutation 'R5369:Map3k6'
| ID |
429530 |
| 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 |
042946-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.324)
|
| Stock # |
R5369 (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 132974992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 675
(I675T)
|
| 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: I675T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862
AA Change: I675T
| 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 |
0.5276 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
99% (77/78) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,545,796 (GRCm39) |
T444A |
probably damaging |
Het |
| A330070K13Rik |
G |
A |
5: 130,407,932 (GRCm39) |
|
probably benign |
Het |
| Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
| Acbd5 |
T |
A |
2: 23,002,522 (GRCm39) |
L508Q |
probably damaging |
Het |
| Asb15 |
T |
C |
6: 24,562,563 (GRCm39) |
V175A |
probably benign |
Het |
| B3galnt2 |
T |
C |
13: 14,169,010 (GRCm39) |
|
probably null |
Het |
| BC024139 |
A |
C |
15: 76,004,422 (GRCm39) |
S711R |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,984,526 (GRCm39) |
I508T |
probably damaging |
Het |
| Btnl6 |
T |
A |
17: 34,726,959 (GRCm39) |
R524* |
probably null |
Het |
| C3 |
C |
A |
17: 57,528,159 (GRCm39) |
D687Y |
probably benign |
Het |
| Ccbe1 |
G |
A |
18: 66,194,485 (GRCm39) |
A367V |
probably benign |
Het |
| Ccr1 |
A |
T |
9: 123,764,326 (GRCm39) |
M68K |
probably damaging |
Het |
| Cd27 |
T |
A |
6: 125,211,327 (GRCm39) |
|
probably benign |
Het |
| Celf2 |
C |
A |
2: 7,085,892 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,897,119 (GRCm39) |
|
probably benign |
Het |
| Cfap97 |
A |
G |
8: 46,622,687 (GRCm39) |
K26E |
probably damaging |
Het |
| Clcn4 |
T |
A |
7: 7,299,032 (GRCm39) |
I48F |
probably benign |
Het |
| Cnot7 |
A |
T |
8: 40,947,061 (GRCm39) |
N238K |
probably benign |
Het |
| Colec12 |
A |
G |
18: 9,866,750 (GRCm39) |
I654V |
unknown |
Het |
| Dip2a |
A |
G |
10: 76,128,194 (GRCm39) |
I22T |
probably damaging |
Het |
| Eif4g3 |
C |
T |
4: 137,910,645 (GRCm39) |
T1375M |
possibly damaging |
Het |
| Eml5 |
C |
T |
12: 98,825,042 (GRCm39) |
G725D |
probably damaging |
Het |
| F12 |
T |
C |
13: 55,566,304 (GRCm39) |
E496G |
probably benign |
Het |
| Fam227a |
A |
T |
15: 79,499,637 (GRCm39) |
S573T |
probably benign |
Het |
| Fnip1 |
T |
C |
11: 54,393,415 (GRCm39) |
V593A |
probably benign |
Het |
| Focad |
T |
A |
4: 88,039,610 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,919,976 (GRCm39) |
I460T |
possibly damaging |
Het |
| Galnt10 |
T |
G |
11: 57,656,573 (GRCm39) |
|
probably null |
Het |
| Gm5592 |
A |
T |
7: 40,867,635 (GRCm39) |
|
probably benign |
Het |
| Gm6185 |
A |
T |
1: 161,037,330 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7935 |
A |
T |
15: 73,952,963 (GRCm39) |
|
noncoding transcript |
Het |
| Grb14 |
C |
T |
2: 64,747,653 (GRCm39) |
V369I |
probably benign |
Het |
| Gstm5 |
G |
A |
3: 107,805,782 (GRCm39) |
A198T |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,832,448 (GRCm39) |
V3048D |
probably damaging |
Het |
| Htra4 |
T |
G |
8: 25,523,585 (GRCm39) |
I327L |
possibly damaging |
Het |
| Ifi209 |
T |
C |
1: 173,464,873 (GRCm39) |
M1T |
probably null |
Het |
| Ints6 |
T |
C |
14: 62,981,384 (GRCm39) |
T135A |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,496,385 (GRCm39) |
I2604N |
probably damaging |
Het |
| Krt6a |
T |
A |
15: 101,600,993 (GRCm39) |
M268L |
probably benign |
Het |
| Lrp1b |
G |
T |
2: 40,894,625 (GRCm39) |
S2201* |
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,289,904 (GRCm39) |
N3645S |
probably benign |
Het |
| Lrrc15 |
A |
T |
16: 30,091,722 (GRCm39) |
I539N |
possibly damaging |
Het |
| Map3k9 |
T |
A |
12: 81,768,826 (GRCm39) |
E1074V |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,862,075 (GRCm39) |
S339R |
probably benign |
Het |
| Mrps18a |
T |
C |
17: 46,436,552 (GRCm39) |
|
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,882,654 (GRCm39) |
E466G |
probably damaging |
Het |
| Nat8f2 |
G |
T |
6: 85,844,854 (GRCm39) |
Y169* |
probably null |
Het |
| Nlrp1b |
A |
G |
11: 71,072,625 (GRCm39) |
I406T |
probably benign |
Het |
| Npc1l1 |
A |
G |
11: 6,167,705 (GRCm39) |
|
probably null |
Het |
| Or10z1 |
A |
G |
1: 174,078,007 (GRCm39) |
V162A |
probably damaging |
Het |
| Or5ac20 |
A |
T |
16: 59,104,743 (GRCm39) |
M39K |
probably damaging |
Het |
| Ostf1 |
C |
T |
19: 18,558,689 (GRCm39) |
G198E |
probably benign |
Het |
| Pcsk5 |
A |
G |
19: 17,558,619 (GRCm39) |
V596A |
probably damaging |
Het |
| Pde4c |
T |
C |
8: 71,202,754 (GRCm39) |
*647Q |
probably null |
Het |
| Pkm |
A |
T |
9: 59,577,917 (GRCm39) |
I245F |
probably damaging |
Het |
| Prss3b |
T |
A |
6: 41,009,940 (GRCm39) |
R131S |
probably benign |
Het |
| Ptprj |
T |
C |
2: 90,299,985 (GRCm39) |
H179R |
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 78,976,739 (GRCm39) |
S1356T |
probably benign |
Het |
| Rbm45 |
T |
A |
2: 76,200,594 (GRCm39) |
L41Q |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Scel |
A |
T |
14: 103,823,929 (GRCm39) |
I386F |
probably benign |
Het |
| Serpinb5 |
A |
T |
1: 106,809,487 (GRCm39) |
N298Y |
possibly damaging |
Het |
| Sirt3 |
A |
T |
7: 140,449,406 (GRCm39) |
L180Q |
probably damaging |
Het |
| Slc24a2 |
C |
T |
4: 86,909,625 (GRCm39) |
V698I |
probably damaging |
Het |
| Slc43a3 |
A |
T |
2: 84,788,067 (GRCm39) |
H483L |
probably damaging |
Het |
| Snrnp35 |
A |
G |
5: 124,628,262 (GRCm39) |
D25G |
probably benign |
Het |
| Snrnp40 |
T |
C |
4: 130,256,439 (GRCm39) |
S55P |
probably damaging |
Het |
| Snx9 |
T |
A |
17: 5,970,855 (GRCm39) |
C399S |
probably damaging |
Het |
| Ttbk2 |
T |
C |
2: 120,655,743 (GRCm39) |
|
probably benign |
Het |
| Vmn1r1 |
A |
G |
1: 181,985,341 (GRCm39) |
V108A |
possibly damaging |
Het |
| Vmn1r201 |
T |
A |
13: 22,659,672 (GRCm39) |
N295K |
probably benign |
Het |
| Zfp292 |
G |
A |
4: 34,807,491 (GRCm39) |
P1851L |
possibly damaging |
Het |
| Zfp472 |
A |
T |
17: 33,196,717 (GRCm39) |
D264V |
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 |
|
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'- GGTGATGAATCCGGATTCCTCC -3'
(R):5'- ATGCCCACAATCAGTCAGTTC -3'
Sequencing Primer
(F):5'- CTGGAGGTGAGGCTGCAG -3'
(R):5'- GCCCACAATCAGTCAGTTCTCATG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation