Incidental Mutation 'IGL01341:Map3k6'
ID |
74841 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Map3k6
|
Ensembl Gene |
ENSMUSG00000028862 |
Gene Name |
mitogen-activated protein kinase kinase kinase 6 |
Synonyms |
Ask2, MEKK6, MAPKKK6 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.324)
|
Stock # |
IGL01341
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
132968129-132980240 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 132975371 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 702
(R702L)
|
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: R702L
PolyPhen 2
Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000030677 Gene: ENSMUSG00000028862 AA Change: R702L
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
A |
19: 8,989,067 (GRCm39) |
H3450Q |
probably benign |
Het |
Arcn1 |
A |
G |
9: 44,668,489 (GRCm39) |
I249T |
possibly damaging |
Het |
Arhgef5 |
G |
A |
6: 43,260,925 (GRCm39) |
R1450H |
probably damaging |
Het |
Cdh26 |
A |
T |
2: 178,099,240 (GRCm39) |
D113V |
probably damaging |
Het |
Cnot4 |
A |
G |
6: 35,047,189 (GRCm39) |
V141A |
probably damaging |
Het |
Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
Ctsll3 |
C |
T |
13: 60,946,813 (GRCm39) |
D269N |
probably benign |
Het |
Dnttip2 |
T |
C |
3: 122,070,261 (GRCm39) |
I492T |
probably damaging |
Het |
Gimap8 |
A |
G |
6: 48,635,701 (GRCm39) |
S489G |
probably damaging |
Het |
Glra2 |
T |
C |
X: 164,107,562 (GRCm39) |
D46G |
probably damaging |
Het |
Gm7094 |
A |
G |
1: 21,343,107 (GRCm39) |
|
noncoding transcript |
Het |
Gmps |
T |
C |
3: 63,922,861 (GRCm39) |
I608T |
probably damaging |
Het |
Gzma |
A |
G |
13: 113,230,418 (GRCm39) |
|
probably benign |
Het |
H2-Q4 |
T |
A |
17: 35,601,978 (GRCm39) |
V280E |
probably damaging |
Het |
Jak1 |
C |
T |
4: 101,032,290 (GRCm39) |
G439S |
probably damaging |
Het |
Kars1 |
T |
C |
8: 112,721,606 (GRCm39) |
I556V |
probably benign |
Het |
Kifc2 |
T |
C |
15: 76,547,098 (GRCm39) |
|
probably null |
Het |
Kit |
T |
C |
5: 75,767,734 (GRCm39) |
I39T |
probably damaging |
Het |
Marveld3 |
T |
A |
8: 110,675,049 (GRCm39) |
T256S |
possibly damaging |
Het |
Nkd1 |
G |
A |
8: 89,318,180 (GRCm39) |
|
probably benign |
Het |
Or5aq6 |
T |
A |
2: 86,923,643 (GRCm39) |
I33L |
probably benign |
Het |
Or6c212 |
G |
A |
10: 129,558,747 (GRCm39) |
T222I |
possibly damaging |
Het |
Pax2 |
A |
G |
19: 44,779,127 (GRCm39) |
S167G |
probably damaging |
Het |
Pdlim3 |
T |
A |
8: 46,368,277 (GRCm39) |
D258E |
probably benign |
Het |
Ppip5k1 |
A |
T |
2: 121,173,691 (GRCm39) |
C393* |
probably null |
Het |
Pxdn |
T |
C |
12: 30,052,486 (GRCm39) |
S888P |
probably damaging |
Het |
Relb |
T |
C |
7: 19,350,298 (GRCm39) |
I218V |
probably benign |
Het |
Reln |
T |
A |
5: 22,174,077 (GRCm39) |
I2009F |
probably damaging |
Het |
Sec23b |
T |
C |
2: 144,427,653 (GRCm39) |
S627P |
probably benign |
Het |
Slc2a8 |
T |
A |
2: 32,866,003 (GRCm39) |
Q39L |
probably damaging |
Het |
Tmem143 |
T |
C |
7: 45,565,558 (GRCm39) |
Y340H |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,560,663 (GRCm39) |
V29246A |
probably damaging |
Het |
Wdr81 |
T |
C |
11: 75,336,427 (GRCm39) |
D1654G |
probably damaging |
Het |
Zbtb11 |
T |
G |
16: 55,811,294 (GRCm39) |
L484R |
possibly damaging |
Het |
Zcchc8 |
A |
G |
5: 123,842,632 (GRCm39) |
V367A |
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 |
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 |
|
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 |
|
Posted On |
2013-10-07 |