Incidental Mutation 'R9745:Map3k6'
| ID |
732031 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.297)
|
| Stock # |
R9745 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
132968129-132980240 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 132979783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 1261
(I1261F)
|
| 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 |
probably damaging
Transcript: ENSMUST00000030677
AA Change: I1261F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862
AA Change: I1261F
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 99.1%
- 20x: 97.9%
|
| 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 |
|---|
| Agap2 |
T |
A |
10: 126,919,380 (GRCm39) |
H488Q |
unknown |
Het |
| Ces1b |
T |
C |
8: 93,790,625 (GRCm39) |
D388G |
probably benign |
Het |
| Ces1f |
T |
C |
8: 93,989,740 (GRCm39) |
D392G |
probably benign |
Het |
| Ces5a |
A |
G |
8: 94,228,814 (GRCm39) |
V472A |
probably damaging |
Het |
| Chst1 |
A |
G |
2: 92,444,047 (GRCm39) |
D173G |
possibly damaging |
Het |
| Cngb1 |
T |
G |
8: 95,967,919 (GRCm39) |
E1294A |
unknown |
Het |
| Cnmd |
T |
C |
14: 79,887,850 (GRCm39) |
I124V |
possibly damaging |
Het |
| Cntnap2 |
A |
T |
6: 46,211,100 (GRCm39) |
M505L |
probably benign |
Het |
| Cntnap4 |
T |
A |
8: 113,391,808 (GRCm39) |
M91K |
possibly damaging |
Het |
| Cstad |
A |
G |
2: 30,498,197 (GRCm39) |
T11A |
unknown |
Het |
| Cyp2j6 |
A |
T |
4: 96,441,621 (GRCm39) |
V23E |
possibly damaging |
Het |
| Dapk3 |
C |
A |
10: 81,028,594 (GRCm39) |
T388K |
unknown |
Het |
| Dennd6a |
G |
A |
14: 26,320,818 (GRCm39) |
G120R |
possibly damaging |
Het |
| Disp1 |
A |
C |
1: 182,869,310 (GRCm39) |
S1037A |
probably damaging |
Het |
| Dpcd |
A |
T |
19: 45,560,881 (GRCm39) |
Q103L |
probably benign |
Het |
| Egfem1 |
A |
T |
3: 29,716,532 (GRCm39) |
D334V |
probably damaging |
Het |
| Egflam |
C |
T |
15: 7,333,419 (GRCm39) |
V178M |
probably benign |
Het |
| Ehbp1 |
T |
C |
11: 22,096,692 (GRCm39) |
T291A |
probably benign |
Het |
| Eif5b |
G |
T |
1: 38,084,729 (GRCm39) |
V859F |
probably damaging |
Het |
| Fam161a |
A |
T |
11: 22,973,495 (GRCm39) |
Q459L |
possibly damaging |
Het |
| Fcgrt |
A |
C |
7: 44,742,754 (GRCm39) |
D342E |
probably damaging |
Het |
| Fchsd1 |
A |
C |
18: 38,102,425 (GRCm39) |
D34E |
probably benign |
Het |
| Foxo4 |
G |
A |
X: 100,301,955 (GRCm39) |
S209N |
probably benign |
Het |
| Galt |
A |
T |
4: 41,758,185 (GRCm39) |
M317L |
possibly damaging |
Het |
| Gfm1 |
A |
G |
3: 67,358,657 (GRCm39) |
D416G |
possibly damaging |
Het |
| Glcci1 |
A |
T |
6: 8,573,278 (GRCm39) |
I256L |
probably benign |
Het |
| Ibtk |
C |
T |
9: 85,613,280 (GRCm39) |
G228S |
probably benign |
Het |
| Ift70b |
T |
C |
2: 75,768,261 (GRCm39) |
Y164C |
probably benign |
Het |
| Il2rb |
T |
A |
15: 78,372,399 (GRCm39) |
D106V |
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,167,815 (GRCm39) |
L1014P |
probably benign |
Het |
| Mcm2 |
G |
A |
6: 88,868,729 (GRCm39) |
Q343* |
probably null |
Het |
| Megf8 |
A |
G |
7: 25,058,133 (GRCm39) |
T2136A |
possibly damaging |
Het |
| Mmp28 |
G |
A |
11: 83,342,283 (GRCm39) |
T103I |
probably benign |
Het |
| Mtif2 |
G |
A |
11: 29,476,587 (GRCm39) |
|
probably benign |
Het |
| Mtus2 |
A |
T |
5: 148,013,311 (GRCm39) |
T35S |
possibly damaging |
Het |
| Ncoa2 |
A |
T |
1: 13,245,192 (GRCm39) |
I502N |
probably benign |
Het |
| Nek5 |
A |
C |
8: 22,573,479 (GRCm39) |
D492E |
probably benign |
Het |
| Nin |
T |
C |
12: 70,089,899 (GRCm39) |
E1172G |
|
Het |
| Nsmaf |
T |
A |
4: 6,416,662 (GRCm39) |
I544F |
possibly damaging |
Het |
| Oas3 |
T |
C |
5: 120,899,284 (GRCm39) |
D763G |
unknown |
Het |
| Or2a20 |
G |
A |
6: 43,194,258 (GRCm39) |
W137* |
probably null |
Het |
| Or4s2 |
T |
A |
2: 88,473,310 (GRCm39) |
F66L |
probably benign |
Het |
| Or51r1 |
A |
T |
7: 102,227,861 (GRCm39) |
D53V |
probably damaging |
Het |
| Or5al6 |
C |
T |
2: 85,976,251 (GRCm39) |
V276M |
probably damaging |
Het |
| Or5aq1 |
T |
A |
2: 86,965,783 (GRCm39) |
N294I |
probably damaging |
Het |
| Or5k15 |
A |
T |
16: 58,710,265 (GRCm39) |
L106Q |
probably damaging |
Het |
| Or5t17 |
T |
C |
2: 86,832,487 (GRCm39) |
V58A |
probably benign |
Het |
| Pcdh7 |
T |
C |
5: 57,879,622 (GRCm39) |
|
probably null |
Het |
| Pitx3 |
A |
G |
19: 46,124,660 (GRCm39) |
S236P |
possibly damaging |
Het |
| Plscr5 |
T |
A |
9: 92,087,502 (GRCm39) |
I157N |
probably damaging |
Het |
| Potefam1 |
T |
C |
2: 111,000,008 (GRCm39) |
M201V |
unknown |
Het |
| Preb |
T |
C |
5: 31,116,732 (GRCm39) |
N54D |
probably benign |
Het |
| Pskh1 |
C |
T |
8: 106,656,404 (GRCm39) |
A360V |
possibly damaging |
Het |
| Ptprk |
T |
C |
10: 28,139,608 (GRCm39) |
L111S |
possibly damaging |
Het |
| Reln |
T |
A |
5: 22,152,525 (GRCm39) |
I2314F |
probably damaging |
Het |
| Siglecg |
A |
G |
7: 43,067,476 (GRCm39) |
D681G |
probably damaging |
Het |
| Snx5 |
A |
G |
2: 144,096,716 (GRCm39) |
V283A |
probably benign |
Het |
| Srpk2 |
C |
A |
5: 23,880,874 (GRCm39) |
|
probably benign |
Het |
| Tacr1 |
T |
C |
6: 82,469,619 (GRCm39) |
Y168H |
possibly damaging |
Het |
| Tal1 |
G |
T |
4: 114,920,557 (GRCm39) |
R77L |
probably benign |
Het |
| Tdrd12 |
T |
C |
7: 35,185,964 (GRCm39) |
|
probably null |
Het |
| Tdrd7 |
A |
T |
4: 45,994,310 (GRCm39) |
N236I |
possibly damaging |
Het |
| Tdrd9 |
T |
C |
12: 112,009,130 (GRCm39) |
F1012S |
probably damaging |
Het |
| Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
| Tert |
T |
A |
13: 73,784,609 (GRCm39) |
L685Q |
probably damaging |
Het |
| Th |
T |
G |
7: 142,448,851 (GRCm39) |
D342A |
probably damaging |
Het |
| Tpsg1 |
G |
T |
17: 25,591,492 (GRCm39) |
V31L |
probably damaging |
Het |
| Traf3ip1 |
C |
G |
1: 91,439,095 (GRCm39) |
S337* |
probably null |
Het |
| Trpv6 |
A |
G |
6: 41,600,003 (GRCm39) |
F551S |
probably damaging |
Het |
| Urah |
A |
G |
7: 140,415,531 (GRCm39) |
N23D |
probably benign |
Het |
| Vangl1 |
A |
C |
3: 102,072,669 (GRCm39) |
|
probably null |
Het |
| Zc3h6 |
A |
G |
2: 128,859,155 (GRCm39) |
E1062G |
probably benign |
Het |
| Zfp37 |
A |
T |
4: 62,110,644 (GRCm39) |
V181E |
possibly damaging |
Het |
| Zfp638 |
T |
A |
6: 83,921,795 (GRCm39) |
S641T |
probably benign |
Het |
| Zkscan16 |
A |
T |
4: 58,957,473 (GRCm39) |
H585L |
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 |
|
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 |
|
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'- GAGCCCTTAGTATGCACCTC -3'
(R):5'- ATCAGGGATCAATGTAATTCAGCC -3'
Sequencing Primer
(F):5'- CTCTCATTATAGGGATGGGGAAACTC -3'
(R):5'- GGATCAATGTAATTCAGCCAGAAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation