Incidental Mutation 'R6522:Map3k6'
| ID |
521352 |
| 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 |
044648-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.297)
|
| Stock # |
R6522 (G1)
|
| Quality Score |
219.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
132968129-132980240 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 132977335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 894
(L894P)
|
| 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: L894P
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862
AA Change: L894P
| 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 |
0.0921 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (56/56) |
| 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 |
|---|
| Adgb |
C |
A |
10: 10,253,636 (GRCm39) |
E1209* |
probably null |
Het |
| Adgrg5 |
G |
T |
8: 95,668,696 (GRCm39) |
R503L |
probably benign |
Het |
| Anks1b |
C |
T |
10: 90,733,189 (GRCm39) |
|
probably benign |
Het |
| Anxa5 |
A |
T |
3: 36,519,451 (GRCm39) |
F13I |
probably damaging |
Het |
| Bicd1 |
A |
G |
6: 149,385,503 (GRCm39) |
I79V |
probably benign |
Het |
| Bnip1 |
A |
G |
17: 27,008,719 (GRCm39) |
D107G |
probably damaging |
Het |
| Ccdc42 |
A |
G |
11: 68,479,046 (GRCm39) |
E78G |
probably damaging |
Het |
| Ccnk |
A |
G |
12: 108,153,446 (GRCm39) |
D69G |
probably damaging |
Het |
| Clec2i |
G |
T |
6: 128,870,692 (GRCm39) |
V77F |
probably damaging |
Het |
| Clec4g |
A |
C |
8: 3,768,803 (GRCm39) |
V62G |
probably benign |
Het |
| Col4a4 |
G |
A |
1: 82,465,304 (GRCm39) |
A957V |
unknown |
Het |
| Csnk1d |
A |
G |
11: 120,862,449 (GRCm39) |
F277L |
probably damaging |
Het |
| Dip2c |
G |
A |
13: 9,625,264 (GRCm39) |
|
probably null |
Het |
| Dpf2 |
T |
A |
19: 5,955,560 (GRCm39) |
K108* |
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,583,171 (GRCm39) |
D423N |
probably damaging |
Het |
| Fbxl13 |
T |
C |
5: 21,766,554 (GRCm39) |
|
probably null |
Homo |
| Flad1 |
T |
C |
3: 89,310,490 (GRCm39) |
R488G |
probably damaging |
Het |
| Galnt6 |
A |
C |
15: 100,591,236 (GRCm39) |
*623E |
probably null |
Het |
| Gtf2e1 |
T |
C |
16: 37,331,816 (GRCm39) |
T420A |
possibly damaging |
Het |
| Hspg2 |
T |
C |
4: 137,282,586 (GRCm39) |
V3442A |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,365,237 (GRCm39) |
D55G |
probably damaging |
Het |
| Kdm2a |
C |
A |
19: 4,374,854 (GRCm39) |
R759L |
possibly damaging |
Het |
| Kif19a |
A |
G |
11: 114,676,605 (GRCm39) |
E478G |
probably damaging |
Het |
| Lamb3 |
G |
A |
1: 193,017,761 (GRCm39) |
V881I |
probably benign |
Het |
| Mast4 |
A |
G |
13: 102,897,801 (GRCm39) |
|
probably null |
Het |
| Mst1r |
G |
A |
9: 107,790,438 (GRCm39) |
V684M |
probably benign |
Het |
| Naa15 |
T |
C |
3: 51,378,935 (GRCm39) |
S727P |
probably damaging |
Het |
| Nap1l1 |
T |
C |
10: 111,330,084 (GRCm39) |
L330S |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,247,281 (GRCm39) |
T2205A |
probably damaging |
Het |
| Ncf2 |
T |
C |
1: 152,703,214 (GRCm39) |
|
probably null |
Het |
| Opa1 |
T |
A |
16: 29,444,332 (GRCm39) |
N839K |
probably benign |
Het |
| Or4c104 |
T |
C |
2: 88,586,452 (GRCm39) |
D189G |
probably damaging |
Het |
| Or52a33 |
T |
C |
7: 103,288,504 (GRCm39) |
Y281C |
probably damaging |
Het |
| Or52n4b |
G |
A |
7: 108,144,202 (GRCm39) |
V155I |
probably benign |
Het |
| Pcdha7 |
T |
C |
18: 37,106,995 (GRCm39) |
Y7H |
possibly damaging |
Het |
| Pcdhb15 |
T |
C |
18: 37,607,314 (GRCm39) |
V182A |
probably benign |
Het |
| Phf10 |
A |
T |
17: 15,176,269 (GRCm39) |
I128N |
probably damaging |
Het |
| Plce1 |
T |
A |
19: 38,736,965 (GRCm39) |
|
probably null |
Het |
| Plxnb2 |
T |
C |
15: 89,048,629 (GRCm39) |
N626S |
probably benign |
Het |
| Prh1 |
G |
A |
6: 132,548,996 (GRCm39) |
G168R |
unknown |
Het |
| Prss51 |
A |
G |
14: 64,334,855 (GRCm39) |
T137A |
possibly damaging |
Het |
| Ptprcap |
C |
T |
19: 4,206,183 (GRCm39) |
R89C |
possibly damaging |
Het |
| Scfd1 |
A |
G |
12: 51,478,324 (GRCm39) |
K512R |
probably benign |
Het |
| Serpina1b |
A |
C |
12: 103,701,296 (GRCm39) |
|
probably null |
Het |
| Setbp1 |
T |
C |
18: 78,900,605 (GRCm39) |
T1021A |
probably damaging |
Het |
| Slco1b2 |
G |
A |
6: 141,601,145 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
C |
T |
2: 127,063,747 (GRCm39) |
T642I |
probably benign |
Het |
| Tenm4 |
A |
C |
7: 96,492,251 (GRCm39) |
I1063L |
possibly damaging |
Het |
| Tfb2m |
G |
A |
1: 179,373,611 (GRCm39) |
A29V |
probably benign |
Het |
| Tfeb |
T |
C |
17: 48,100,627 (GRCm39) |
V140A |
probably damaging |
Het |
| Tmem104 |
A |
T |
11: 115,134,579 (GRCm39) |
I372F |
probably damaging |
Het |
| Tmem132d |
G |
T |
5: 127,860,832 (GRCm39) |
H1096Q |
probably benign |
Het |
| Trim12c |
A |
T |
7: 103,997,531 (GRCm39) |
N8K |
probably benign |
Het |
| Tti2 |
A |
G |
8: 31,643,631 (GRCm39) |
I249V |
probably null |
Het |
| Vps8 |
T |
A |
16: 21,261,129 (GRCm39) |
L90I |
probably damaging |
Het |
| Vwf |
A |
T |
6: 125,639,926 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
G |
14: 32,868,901 (GRCm39) |
S376P |
probably 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 |
|
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'- CTCAGGCTGCGATGTTTCAG -3'
(R):5'- GAGGAACAAGCTGTTAGTCTTTTCG -3'
Sequencing Primer
(F):5'- CGATGTTTCAGGCGAGTCTCTC -3'
(R):5'- AAGCTGTTAGTCTTTTCGCCTCATC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation