Incidental Mutation 'R0597:Map3k6'
| ID |
55107 |
| 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 |
038786-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.297)
|
| Stock # |
R0597 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
132968129-132980240 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 132972863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 341
(P341S)
|
| 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: P341S
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862
AA Change: P341S
| 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 |
0.1110 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 99.0%
- 10x: 97.4%
- 20x: 94.1%
|
| Validation Efficiency |
97% (71/73) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
T |
C |
1: 165,352,631 (GRCm39) |
|
probably null |
Het |
| Anxa11 |
T |
C |
14: 25,874,652 (GRCm39) |
I221T |
probably damaging |
Het |
| Arhgap33 |
C |
G |
7: 30,225,871 (GRCm39) |
R565P |
probably damaging |
Het |
| Bmpr2 |
T |
C |
1: 59,880,584 (GRCm39) |
|
probably benign |
Het |
| Btn2a2 |
T |
A |
13: 23,670,580 (GRCm39) |
H51L |
probably benign |
Het |
| Casz1 |
T |
C |
4: 149,028,851 (GRCm39) |
S1099P |
probably benign |
Het |
| Cnot4 |
A |
G |
6: 35,028,438 (GRCm39) |
S393P |
possibly damaging |
Het |
| Cntnap5a |
T |
C |
1: 116,112,191 (GRCm39) |
|
probably benign |
Het |
| Cobl |
T |
C |
11: 12,204,699 (GRCm39) |
T586A |
probably benign |
Het |
| Crocc |
T |
C |
4: 140,747,224 (GRCm39) |
K1528R |
probably benign |
Het |
| Crocc |
A |
G |
4: 140,744,382 (GRCm39) |
L1838P |
probably benign |
Het |
| Dact2 |
A |
G |
17: 14,417,303 (GRCm39) |
V299A |
probably benign |
Het |
| Dapk1 |
C |
A |
13: 60,909,198 (GRCm39) |
N1270K |
probably benign |
Het |
| Ddx41 |
T |
C |
13: 55,680,819 (GRCm39) |
Y375C |
probably damaging |
Het |
| Dock5 |
T |
A |
14: 68,022,383 (GRCm39) |
|
probably null |
Het |
| Dyrk4 |
T |
G |
6: 126,863,612 (GRCm39) |
|
probably null |
Het |
| Eno1b |
T |
C |
18: 48,180,806 (GRCm39) |
I328T |
probably benign |
Het |
| Fam210b |
A |
G |
2: 172,187,773 (GRCm39) |
|
probably benign |
Het |
| Fbxl13 |
A |
G |
5: 21,819,712 (GRCm39) |
I229T |
probably benign |
Het |
| Fbxo39 |
A |
G |
11: 72,207,747 (GRCm39) |
D33G |
probably damaging |
Het |
| Fbxw11 |
A |
G |
11: 32,670,496 (GRCm39) |
E120G |
probably damaging |
Het |
| Fbxw2 |
A |
T |
2: 34,701,032 (GRCm39) |
L261Q |
probably damaging |
Het |
| Gm5800 |
A |
C |
14: 51,953,461 (GRCm39) |
N51K |
probably benign |
Het |
| Gm6899 |
A |
G |
11: 26,543,768 (GRCm39) |
|
probably benign |
Het |
| Gpx8 |
T |
C |
13: 113,182,035 (GRCm39) |
T133A |
possibly damaging |
Het |
| Grin3a |
C |
T |
4: 49,665,351 (GRCm39) |
V1095M |
probably damaging |
Het |
| Grip2 |
T |
C |
6: 91,773,178 (GRCm39) |
|
probably benign |
Het |
| Hacd4 |
A |
G |
4: 88,355,757 (GRCm39) |
F43L |
probably damaging |
Het |
| Hif1a |
T |
G |
12: 73,989,049 (GRCm39) |
S645R |
probably benign |
Het |
| Hipk3 |
A |
G |
2: 104,263,982 (GRCm39) |
S839P |
possibly damaging |
Het |
| Idi2l |
C |
A |
13: 8,990,802 (GRCm39) |
|
probably benign |
Het |
| Il16 |
A |
T |
7: 83,327,183 (GRCm39) |
|
probably benign |
Het |
| Il3ra |
T |
A |
14: 14,351,166 (GRCm38) |
|
probably null |
Het |
| Il5ra |
A |
G |
6: 106,721,296 (GRCm39) |
M1T |
probably null |
Het |
| Klra2 |
G |
A |
6: 131,197,148 (GRCm39) |
R251C |
probably benign |
Het |
| Lamc2 |
C |
T |
1: 153,009,367 (GRCm39) |
V813M |
probably benign |
Het |
| Lbr |
A |
G |
1: 181,659,778 (GRCm39) |
V139A |
probably benign |
Het |
| Lrp5 |
T |
C |
19: 3,650,777 (GRCm39) |
D1219G |
possibly damaging |
Het |
| Mcts2 |
A |
G |
2: 152,529,609 (GRCm39) |
E140G |
probably benign |
Het |
| Med1 |
T |
C |
11: 98,060,264 (GRCm39) |
M222V |
probably benign |
Het |
| Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
| Muc19 |
A |
T |
15: 91,784,696 (GRCm39) |
|
noncoding transcript |
Het |
| Nr1h2 |
A |
G |
7: 44,201,684 (GRCm39) |
|
probably benign |
Het |
| Or13j1 |
A |
T |
4: 43,706,592 (GRCm39) |
|
probably null |
Het |
| Or2w6 |
C |
A |
13: 21,843,316 (GRCm39) |
R59L |
probably damaging |
Het |
| Or56a42-ps1 |
A |
G |
7: 104,777,425 (GRCm39) |
V73A |
possibly damaging |
Het |
| Or5ac23 |
A |
T |
16: 59,149,123 (GRCm39) |
F250I |
probably damaging |
Het |
| P4hb |
G |
A |
11: 120,459,070 (GRCm39) |
T141I |
possibly damaging |
Het |
| Polr3a |
A |
G |
14: 24,534,202 (GRCm39) |
V101A |
probably benign |
Het |
| Pou4f2 |
A |
G |
8: 79,161,869 (GRCm39) |
S245P |
probably benign |
Het |
| Pramel26 |
G |
T |
4: 143,539,222 (GRCm39) |
N90K |
probably damaging |
Het |
| Rnpep |
A |
G |
1: 135,200,157 (GRCm39) |
V266A |
probably damaging |
Het |
| Scly |
G |
A |
1: 91,237,555 (GRCm39) |
G206R |
probably damaging |
Het |
| Sec14l3 |
A |
T |
11: 4,024,814 (GRCm39) |
K254N |
probably damaging |
Het |
| Sgpp1 |
A |
T |
12: 75,781,874 (GRCm39) |
I155N |
probably damaging |
Het |
| Slc22a14 |
A |
G |
9: 119,001,190 (GRCm39) |
L468P |
probably damaging |
Het |
| Slc22a27 |
A |
G |
19: 7,843,249 (GRCm39) |
F377L |
probably benign |
Het |
| Slc44a3 |
T |
C |
3: 121,253,719 (GRCm39) |
I625V |
probably benign |
Het |
| Slc47a2 |
A |
T |
11: 61,200,802 (GRCm39) |
I373N |
probably damaging |
Het |
| Slfn10-ps |
A |
T |
11: 82,926,479 (GRCm39) |
|
noncoding transcript |
Het |
| Smarcd1 |
T |
A |
15: 99,608,975 (GRCm39) |
I383N |
probably damaging |
Het |
| Sort1 |
A |
G |
3: 108,246,226 (GRCm39) |
D401G |
probably damaging |
Het |
| Sprr2a3 |
G |
T |
3: 92,195,897 (GRCm39) |
M1I |
probably null |
Het |
| Sycp2 |
A |
C |
2: 177,998,373 (GRCm39) |
V1049G |
possibly damaging |
Het |
| Tecrl |
T |
A |
5: 83,502,775 (GRCm39) |
K10* |
probably null |
Het |
| Tnpo3 |
A |
T |
6: 29,578,564 (GRCm39) |
C303* |
probably null |
Het |
| Vmn2r23 |
A |
G |
6: 123,706,680 (GRCm39) |
I503M |
probably benign |
Het |
| Zbtb8os |
T |
A |
4: 129,240,670 (GRCm39) |
I164N |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,807,399 (GRCm39) |
N1882D |
probably benign |
Het |
| Zfp91 |
T |
C |
19: 12,747,459 (GRCm39) |
I555V |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCAAGGTCGCTACTCCTTAGAG -3'
(R):5'- TCAGAGTCTTCGAAATGCTGCCC -3'
Sequencing Primer
(F):5'- AGAAATCCCTTCCATCTGGAGTC -3'
(R):5'- TGAATGGATGCCCGCAAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation