Incidental Mutation 'R0417:Map3k6'
| ID |
40386 |
| 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 |
038619-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.297)
|
| Stock # |
R0417 (G1)
|
| Quality Score |
127 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
132968129-132980240 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 132975393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 709
(Y709*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030677]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030677
AA Change: Y709*
|
| SMART Domains |
Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862
AA Change: Y709*
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,199,244 (GRCm39) |
K217R |
probably damaging |
Het |
| 1810024B03Rik |
A |
G |
2: 127,028,864 (GRCm39) |
Y112H |
probably damaging |
Het |
| Acot2 |
T |
C |
12: 84,037,387 (GRCm39) |
Y234H |
probably benign |
Het |
| Alox12e |
C |
T |
11: 70,212,691 (GRCm39) |
V53I |
probably benign |
Het |
| Ankrd50 |
T |
C |
3: 38,510,510 (GRCm39) |
H619R |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,479,259 (GRCm39) |
L1452Q |
probably damaging |
Het |
| Arhgap42 |
T |
C |
9: 9,180,034 (GRCm39) |
S82G |
possibly damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,438,957 (GRCm39) |
|
probably benign |
Het |
| Bicra |
C |
A |
7: 15,706,247 (GRCm39) |
R1398L |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,340,597 (GRCm39) |
T118A |
probably benign |
Het |
| Btnl9 |
A |
G |
11: 49,066,422 (GRCm39) |
Y381H |
probably damaging |
Het |
| Cbln3 |
T |
G |
14: 56,121,586 (GRCm39) |
E20A |
probably benign |
Het |
| Cdc42ep5 |
A |
G |
7: 4,154,482 (GRCm39) |
L102P |
probably damaging |
Het |
| Csrnp3 |
A |
G |
2: 65,849,887 (GRCm39) |
Y171C |
probably benign |
Het |
| Cyp2d9 |
A |
T |
15: 82,340,152 (GRCm39) |
I181F |
probably damaging |
Het |
| Cyp7b1 |
T |
A |
3: 18,150,855 (GRCm39) |
T295S |
probably damaging |
Het |
| Dbn1 |
C |
T |
13: 55,622,729 (GRCm39) |
E585K |
probably damaging |
Het |
| Dok1 |
A |
T |
6: 83,008,550 (GRCm39) |
D377E |
probably damaging |
Het |
| Eed |
A |
T |
7: 89,620,760 (GRCm39) |
Y87* |
probably null |
Het |
| Entpd3 |
T |
C |
9: 120,386,487 (GRCm39) |
V156A |
probably damaging |
Het |
| Exo5 |
T |
A |
4: 120,779,269 (GRCm39) |
T199S |
probably damaging |
Het |
| Extl2 |
T |
C |
3: 115,818,006 (GRCm39) |
I106T |
probably benign |
Het |
| Ezh2 |
A |
G |
6: 47,528,660 (GRCm39) |
C291R |
probably benign |
Het |
| Flvcr1 |
A |
T |
1: 190,743,416 (GRCm39) |
M466K |
probably benign |
Het |
| Fras1 |
G |
T |
5: 96,839,231 (GRCm39) |
M1583I |
probably benign |
Het |
| Fzd9 |
G |
T |
5: 135,278,473 (GRCm39) |
R471S |
probably damaging |
Het |
| Galr1 |
A |
T |
18: 82,423,665 (GRCm39) |
F204Y |
probably damaging |
Het |
| Gna11 |
A |
T |
10: 81,366,738 (GRCm39) |
I324N |
probably damaging |
Het |
| Gucy1a2 |
A |
G |
9: 3,759,484 (GRCm39) |
E430G |
possibly damaging |
Het |
| Hhatl |
C |
T |
9: 121,617,828 (GRCm39) |
A254T |
probably benign |
Het |
| Ikzf1 |
A |
C |
11: 11,719,352 (GRCm39) |
N353T |
probably benign |
Het |
| Il7 |
T |
A |
3: 7,641,087 (GRCm39) |
T110S |
probably damaging |
Het |
| Keg1 |
A |
G |
19: 12,688,424 (GRCm39) |
N53D |
probably damaging |
Het |
| Klhl21 |
T |
C |
4: 152,099,964 (GRCm39) |
I558T |
probably damaging |
Het |
| Lca5l |
G |
A |
16: 95,963,853 (GRCm39) |
T357M |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,622,961 (GRCm39) |
S2448P |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,352,424 (GRCm39) |
E1261G |
probably benign |
Het |
| Mettl3 |
C |
T |
14: 52,534,155 (GRCm39) |
G473D |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,733,271 (GRCm39) |
I40V |
probably damaging |
Het |
| Mmp13 |
T |
A |
9: 7,276,602 (GRCm39) |
D232E |
probably benign |
Het |
| Nampt |
T |
C |
12: 32,883,100 (GRCm39) |
V95A |
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,286,893 (GRCm39) |
V905A |
probably benign |
Het |
| Nomo1 |
A |
T |
7: 45,718,122 (GRCm39) |
E840V |
possibly damaging |
Het |
| Nprl2 |
A |
T |
9: 107,420,497 (GRCm39) |
I101F |
probably damaging |
Het |
| Nup160 |
A |
T |
2: 90,565,771 (GRCm39) |
I1378F |
possibly damaging |
Het |
| Ogdhl |
T |
C |
14: 32,048,936 (GRCm39) |
S69P |
probably damaging |
Het |
| Or2y17 |
T |
A |
11: 49,231,500 (GRCm39) |
I47N |
possibly damaging |
Het |
| Or4a68 |
C |
A |
2: 89,270,519 (GRCm39) |
V35L |
possibly damaging |
Het |
| Or4k77 |
A |
G |
2: 111,199,450 (GRCm39) |
S158G |
possibly damaging |
Het |
| Or5be3 |
A |
T |
2: 86,863,789 (GRCm39) |
Y259N |
probably damaging |
Het |
| Or8b12i |
G |
A |
9: 20,082,510 (GRCm39) |
A119V |
probably damaging |
Het |
| Or8c16 |
A |
G |
9: 38,130,751 (GRCm39) |
I211V |
probably benign |
Het |
| Or8c8 |
T |
C |
9: 38,165,160 (GRCm39) |
F149S |
probably benign |
Het |
| Osbpl3 |
C |
T |
6: 50,324,998 (GRCm39) |
V167I |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,763,036 (GRCm39) |
H3836Q |
unknown |
Het |
| Prkcg |
A |
T |
7: 3,352,820 (GRCm39) |
|
probably null |
Het |
| Ror1 |
A |
T |
4: 100,269,197 (GRCm39) |
H345L |
possibly damaging |
Het |
| Slc36a2 |
C |
T |
11: 55,072,370 (GRCm39) |
|
probably null |
Het |
| Slc40a1 |
G |
A |
1: 45,950,534 (GRCm39) |
P306L |
possibly damaging |
Het |
| Slc9a8 |
C |
A |
2: 167,299,264 (GRCm39) |
T239K |
probably benign |
Het |
| Snapc3 |
A |
G |
4: 83,368,399 (GRCm39) |
I299V |
probably benign |
Het |
| Sp3 |
G |
A |
2: 72,801,845 (GRCm39) |
A56V |
possibly damaging |
Het |
| Spag17 |
T |
A |
3: 99,972,870 (GRCm39) |
S1361T |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,787,954 (GRCm39) |
T978A |
probably benign |
Het |
| Stom |
C |
A |
2: 35,211,644 (GRCm39) |
V126F |
probably damaging |
Het |
| Stpg2 |
A |
G |
3: 138,924,082 (GRCm39) |
T162A |
probably damaging |
Het |
| Stxbp6 |
G |
A |
12: 44,949,740 (GRCm39) |
T63M |
probably damaging |
Het |
| Tatdn1 |
A |
C |
15: 58,793,199 (GRCm39) |
I69S |
probably benign |
Het |
| Tbata |
A |
T |
10: 61,016,118 (GRCm39) |
D198V |
probably damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,063,733 (GRCm39) |
I638V |
probably benign |
Het |
| Tomm70a |
A |
G |
16: 56,970,266 (GRCm39) |
D548G |
probably benign |
Het |
| Ust |
A |
G |
10: 8,121,700 (GRCm39) |
F303L |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,703,130 (GRCm39) |
S4306P |
probably benign |
Het |
| Zbed6 |
A |
T |
1: 133,586,276 (GRCm39) |
S354T |
probably benign |
Het |
| Zfp691 |
A |
G |
4: 119,027,693 (GRCm39) |
S180P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCGCCATCAAGGAGATCCCAGAG -3'
(R):5'- ACGCACGCTAGAGTTCATTTCCC -3'
Sequencing Primer
(F):5'- tgtgtgtgtgtgtgtCTATCTG -3'
(R):5'- GCTAGAGTTCATTTCCCCTCAGG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation