Incidental Mutation 'R6874:Map3k6'
ID |
536298 |
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 |
045029-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.324)
|
Stock # |
R6874 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
132968129-132980240 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 132977967 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 976
(E976K)
|
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 benign
Transcript: ENSMUST00000030677
AA Change: E976K
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000030677 Gene: ENSMUSG00000028862 AA Change: E976K
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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
G |
7: 119,851,428 (GRCm39) |
D802G |
possibly damaging |
Het |
Acsl5 |
A |
G |
19: 55,280,295 (GRCm39) |
T523A |
probably damaging |
Het |
Adamts7 |
A |
T |
9: 90,070,784 (GRCm39) |
D635V |
probably damaging |
Het |
Akr1c12 |
C |
A |
13: 4,322,959 (GRCm39) |
G217C |
probably benign |
Het |
Astn1 |
C |
A |
1: 158,491,644 (GRCm39) |
S1007* |
probably null |
Het |
Cntln |
T |
C |
4: 84,985,996 (GRCm39) |
L988P |
probably damaging |
Het |
Dcps |
A |
T |
9: 35,087,263 (GRCm39) |
M1K |
probably null |
Het |
Dnai1 |
T |
A |
4: 41,632,412 (GRCm39) |
L582Q |
probably damaging |
Het |
Dst |
A |
T |
1: 34,328,732 (GRCm39) |
Q7118L |
probably benign |
Het |
Ehd2 |
T |
A |
7: 15,684,363 (GRCm39) |
T479S |
probably benign |
Het |
Fbxl7 |
T |
C |
15: 26,553,028 (GRCm39) |
I80V |
probably benign |
Het |
Fry |
T |
C |
5: 150,360,768 (GRCm39) |
V125A |
probably benign |
Het |
Gm12695 |
A |
T |
4: 96,673,306 (GRCm39) |
I31K |
probably benign |
Het |
Gm5591 |
T |
C |
7: 38,219,715 (GRCm39) |
E386G |
probably damaging |
Het |
Helz |
G |
T |
11: 107,554,460 (GRCm39) |
R1219S |
probably damaging |
Het |
Hes3 |
G |
T |
4: 152,371,695 (GRCm39) |
P85T |
possibly damaging |
Het |
Igkv3-2 |
A |
T |
6: 70,675,822 (GRCm39) |
R44* |
probably null |
Het |
Igsf9 |
A |
G |
1: 172,322,096 (GRCm39) |
T496A |
probably benign |
Het |
Irf2bp1 |
G |
T |
7: 18,739,142 (GRCm39) |
A261S |
possibly damaging |
Het |
Jph2 |
G |
A |
2: 163,181,407 (GRCm39) |
P586S |
probably benign |
Het |
Klhl11 |
T |
C |
11: 100,363,031 (GRCm39) |
H175R |
probably benign |
Het |
Ksr2 |
G |
T |
5: 117,894,401 (GRCm39) |
E847* |
probably null |
Het |
Lats1 |
T |
A |
10: 7,586,615 (GRCm39) |
Y926N |
probably damaging |
Het |
Lmbr1 |
A |
T |
5: 29,497,904 (GRCm39) |
L33H |
probably damaging |
Het |
Lrp10 |
T |
C |
14: 54,705,670 (GRCm39) |
S287P |
possibly damaging |
Het |
Mfsd6 |
T |
A |
1: 52,699,868 (GRCm39) |
D760V |
probably benign |
Het |
Muc16 |
G |
T |
9: 18,570,065 (GRCm39) |
S818* |
probably null |
Het |
Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
Nagpa |
T |
C |
16: 5,013,921 (GRCm39) |
T306A |
probably benign |
Het |
Nisch |
G |
T |
14: 30,898,641 (GRCm39) |
|
probably benign |
Het |
Nrxn3 |
T |
C |
12: 90,298,964 (GRCm39) |
V1028A |
probably damaging |
Het |
Nucb1 |
T |
C |
7: 45,152,618 (GRCm39) |
N75S |
probably benign |
Het |
Or11a4 |
T |
C |
17: 37,536,238 (GRCm39) |
V74A |
probably benign |
Het |
Or1e1d-ps1 |
T |
G |
11: 73,819,068 (GRCm39) |
M6R |
probably null |
Het |
Or51a43 |
T |
A |
7: 103,717,396 (GRCm39) |
I281F |
possibly damaging |
Het |
Or5h23 |
T |
A |
16: 58,906,312 (GRCm39) |
Y178F |
probably benign |
Het |
Or7g19 |
T |
A |
9: 18,856,777 (GRCm39) |
Y278N |
possibly damaging |
Het |
Or8b57 |
A |
G |
9: 40,004,022 (GRCm39) |
V80A |
probably benign |
Het |
Or8k24 |
C |
T |
2: 86,215,872 (GRCm39) |
V297I |
possibly damaging |
Het |
Pik3c2a |
A |
G |
7: 115,993,540 (GRCm39) |
L409S |
probably damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,452,923 (GRCm39) |
D3949E |
probably benign |
Het |
Prune2 |
C |
A |
19: 17,100,592 (GRCm39) |
P2032Q |
probably damaging |
Het |
Ptms |
T |
C |
6: 124,891,194 (GRCm39) |
|
probably benign |
Het |
Ptp4a3 |
A |
G |
15: 73,595,259 (GRCm39) |
|
probably benign |
Het |
Ptprq |
T |
C |
10: 107,554,460 (GRCm39) |
I88M |
possibly damaging |
Het |
Radil |
T |
A |
5: 142,492,557 (GRCm39) |
D357V |
probably damaging |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Supt20 |
A |
G |
3: 54,635,175 (GRCm39) |
|
probably null |
Het |
Thoc5 |
T |
C |
11: 4,851,261 (GRCm39) |
I69T |
probably damaging |
Het |
Trib2 |
G |
C |
12: 15,865,338 (GRCm39) |
S79W |
probably damaging |
Het |
Trpc6 |
A |
G |
9: 8,680,439 (GRCm39) |
D889G |
probably damaging |
Het |
Usf3 |
T |
C |
16: 44,040,103 (GRCm39) |
S1528P |
probably benign |
Het |
Vax1 |
A |
T |
19: 59,156,955 (GRCm39) |
V126E |
unknown |
Het |
Vgf |
A |
G |
5: 137,060,386 (GRCm39) |
|
probably benign |
Het |
Vmn2r1 |
T |
A |
3: 64,012,376 (GRCm39) |
C746S |
probably damaging |
Het |
Vmn2r77 |
A |
G |
7: 86,451,286 (GRCm39) |
T391A |
probably benign |
Het |
Zfp738 |
C |
A |
13: 67,818,382 (GRCm39) |
E536D |
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 |
|
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'- CCTTGACCACTTCCAAGGAC -3'
(R):5'- AAATTCTTATCCCAGCTCGACC -3'
Sequencing Primer
(F):5'- AAGGACCGTATCTACTACCTCCTG -3'
(R):5'- TTATCCCAGCTCGACCACCAG -3'
|
Posted On |
2018-10-18 |