Incidental Mutation 'R3734:Map3k6'
| ID |
269992 |
| 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 |
040721-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.324)
|
| Stock # |
R3734 (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 132975707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 732
(S732P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030674]
[ENSMUST00000030677]
[ENSMUST00000105908]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030674
|
| SMART Domains |
Protein: ENSMUSP00000030674
Gene: ENSMUSG00000028860
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3BC1|F
|
40 |
92 |
2e-9 |
PDB |
|
low complexity region
|
169 |
183 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
262 |
N/A |
INTRINSIC |
|
C2
|
288 |
389 |
2.36e-17 |
SMART |
|
C2
|
429 |
532 |
6.96e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030677
AA Change: S732P
PolyPhen 2
Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862
AA Change: S732P
| 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 |
probably benign
Transcript: ENSMUST00000105908
|
| SMART Domains |
Protein: ENSMUSP00000101528
Gene: ENSMUSG00000028860
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3BC1|F
|
40 |
92 |
2e-9 |
PDB |
|
low complexity region
|
157 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
250 |
N/A |
INTRINSIC |
|
C2
|
276 |
359 |
3.15e-4 |
SMART |
|
C2
|
364 |
467 |
6.96e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123612
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127681
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142039
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154911
|
| Meta Mutation Damage Score |
0.4286 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
95% (41/43) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Ablim1 |
A |
T |
19: 57,037,892 (GRCm39) |
|
probably null |
Het |
| Blvra |
A |
T |
2: 126,932,175 (GRCm39) |
|
probably benign |
Het |
| Ccdc87 |
G |
T |
19: 4,891,951 (GRCm39) |
W814C |
probably damaging |
Het |
| Cyp2a4 |
A |
G |
7: 26,012,252 (GRCm39) |
D345G |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,735,004 (GRCm39) |
V994A |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,818,582 (GRCm39) |
F197L |
probably damaging |
Het |
| Eps8l2 |
A |
C |
7: 140,937,734 (GRCm39) |
Y418S |
probably damaging |
Het |
| Ergic2 |
T |
C |
6: 148,104,020 (GRCm39) |
D79G |
probably damaging |
Het |
| Fcgr3 |
T |
C |
1: 170,885,443 (GRCm39) |
M60V |
probably benign |
Het |
| Gldn |
A |
G |
9: 54,245,946 (GRCm39) |
K499R |
possibly damaging |
Het |
| Golga1 |
G |
T |
2: 38,940,182 (GRCm39) |
Q141K |
possibly damaging |
Het |
| Ift122 |
A |
G |
6: 115,902,462 (GRCm39) |
|
probably benign |
Het |
| Iqcg |
G |
T |
16: 32,873,996 (GRCm39) |
|
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,114,175 (GRCm39) |
H910R |
probably benign |
Het |
| Jak3 |
C |
A |
8: 72,129,225 (GRCm39) |
|
probably benign |
Het |
| Jrkl |
A |
G |
9: 13,245,535 (GRCm39) |
V42A |
possibly damaging |
Het |
| Kif2c |
T |
C |
4: 117,019,843 (GRCm39) |
S515G |
probably benign |
Het |
| Lag3 |
A |
T |
6: 124,887,103 (GRCm39) |
S155T |
probably benign |
Het |
| Lsamp |
T |
C |
16: 41,965,133 (GRCm39) |
I330T |
probably benign |
Het |
| Muc5b |
C |
T |
7: 141,412,774 (GRCm39) |
Q1907* |
probably null |
Het |
| Nap1l4 |
A |
C |
7: 143,088,132 (GRCm39) |
|
probably benign |
Het |
| Nipal3 |
T |
C |
4: 135,191,157 (GRCm39) |
T325A |
probably damaging |
Het |
| Nol4 |
A |
T |
18: 22,903,921 (GRCm39) |
|
probably benign |
Het |
| Or2l13b |
T |
A |
16: 19,349,398 (GRCm39) |
I91F |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,937,792 (GRCm39) |
T1834A |
probably benign |
Het |
| Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
| Pbld2 |
T |
C |
10: 62,907,244 (GRCm39) |
L161P |
probably damaging |
Het |
| Pcdha6 |
T |
A |
18: 37,102,454 (GRCm39) |
V549E |
probably damaging |
Het |
| Robo2 |
A |
C |
16: 73,717,635 (GRCm39) |
L1159W |
possibly damaging |
Het |
| Scmh1 |
T |
A |
4: 120,335,277 (GRCm39) |
I154N |
probably damaging |
Het |
| Skor1 |
A |
T |
9: 63,047,350 (GRCm39) |
L879Q |
probably damaging |
Het |
| Slc1a7 |
G |
C |
4: 107,834,841 (GRCm39) |
R69P |
probably damaging |
Het |
| Stk4 |
T |
A |
2: 163,930,828 (GRCm39) |
M143K |
probably benign |
Het |
| Tenm1 |
C |
T |
X: 41,772,944 (GRCm39) |
V1023M |
probably benign |
Het |
| Tpte |
G |
A |
8: 22,849,498 (GRCm39) |
C575Y |
probably damaging |
Het |
| Ulk4 |
T |
C |
9: 121,091,055 (GRCm39) |
K216E |
probably benign |
Het |
| Unc5d |
T |
C |
8: 29,251,826 (GRCm39) |
I216V |
probably benign |
Het |
| Vmn2r16 |
T |
C |
5: 109,478,280 (GRCm39) |
S12P |
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 |
|
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 |
|
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'- ATGAACTCTAGCGTGCGTG -3'
(R):5'- CGCCTTTAAGGGACCTCTTTG -3'
Sequencing Primer
(F):5'- CGTGGGTATCACCTAGAATTAGC -3'
(R):5'- ACCCTCTGCCAAAGTGTG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation