Incidental Mutation 'R4895:Map3k20'
ID |
377541 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map3k20
|
Ensembl Gene |
ENSMUSG00000004085 |
Gene Name |
mitogen-activated protein kinase kinase kinase 20 |
Synonyms |
B230120H23Rik, Zak, MLTKalpha, MLTKbeta |
MMRRC Submission |
042499-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4895 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
72115981-72272954 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 72232700 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088334
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090824]
[ENSMUST00000135469]
|
AlphaFold |
Q9ESL4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090824
|
SMART Domains |
Protein: ENSMUSP00000088334 Gene: ENSMUSG00000004085
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
16 |
259 |
6.3e-56 |
PFAM |
Pfam:Pkinase_Tyr
|
16 |
260 |
9.9e-64 |
PFAM |
coiled coil region
|
277 |
328 |
N/A |
INTRINSIC |
SAM
|
336 |
410 |
5.59e-7 |
SMART |
low complexity region
|
643 |
668 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000112073
|
Predicted Effect |
unknown
Transcript: ENSMUST00000135469
AA Change: N452S
|
SMART Domains |
Protein: ENSMUSP00000118983 Gene: ENSMUSG00000004085 AA Change: N452S
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
16 |
259 |
1.1e-59 |
PFAM |
Pfam:Pkinase_Tyr
|
16 |
260 |
7.6e-65 |
PFAM |
coiled coil region
|
277 |
328 |
N/A |
INTRINSIC |
low complexity region
|
428 |
452 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0749 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
98% (84/86) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete lethality at E9.5 with growth retardation. Mice homozygous for an allele lacking the SAM domain exhibit low penetrant unilateral complex hindlimb duplication phenotype. [provided by MGI curators]
|
Allele List at MGI |
All alleles(6) : Targeted, other(2) Gene trapped(4) |
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930519P11Rik |
C |
A |
2: 154,454,990 (GRCm39) |
|
probably benign |
Het |
Abat |
G |
A |
16: 8,433,826 (GRCm39) |
A392T |
probably benign |
Het |
Abca14 |
G |
A |
7: 119,846,572 (GRCm39) |
|
probably null |
Het |
Abcc6 |
A |
T |
7: 45,630,414 (GRCm39) |
L1282Q |
possibly damaging |
Het |
Acss2 |
A |
G |
2: 155,392,401 (GRCm39) |
|
probably benign |
Het |
Adgrf1 |
G |
T |
17: 43,621,511 (GRCm39) |
V583L |
probably benign |
Het |
Aftph |
T |
C |
11: 20,646,801 (GRCm39) |
D825G |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,994,805 (GRCm39) |
V5363A |
probably benign |
Het |
Apba3 |
G |
A |
10: 81,107,117 (GRCm39) |
|
probably null |
Het |
Asb13 |
T |
C |
13: 3,693,589 (GRCm39) |
Y116H |
probably damaging |
Het |
Asb4 |
C |
A |
6: 5,398,266 (GRCm39) |
T77K |
probably damaging |
Het |
Atp8b4 |
A |
T |
2: 126,256,289 (GRCm39) |
H223Q |
probably benign |
Het |
Best1 |
A |
G |
19: 9,970,135 (GRCm39) |
L159P |
probably benign |
Het |
Cacna1h |
A |
T |
17: 25,608,396 (GRCm39) |
M731K |
probably damaging |
Het |
Catspere1 |
T |
A |
1: 177,687,427 (GRCm39) |
|
noncoding transcript |
Het |
Cenpv |
A |
T |
11: 62,418,346 (GRCm39) |
Y202* |
probably null |
Het |
Cep57 |
A |
T |
9: 13,727,449 (GRCm39) |
|
probably benign |
Het |
Cfap100 |
T |
A |
6: 90,383,084 (GRCm39) |
D363V |
possibly damaging |
Het |
Cluh |
A |
G |
11: 74,558,231 (GRCm39) |
Y1126C |
probably damaging |
Het |
Cyp2j5 |
A |
G |
4: 96,551,347 (GRCm39) |
|
probably null |
Het |
Dnajc11 |
T |
C |
4: 152,064,390 (GRCm39) |
F514L |
probably damaging |
Het |
Efcab3 |
C |
T |
11: 104,611,112 (GRCm39) |
T318I |
probably benign |
Het |
Efcab3 |
T |
A |
11: 105,008,227 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,640,496 (GRCm39) |
D1026G |
probably damaging |
Het |
Eif2b4 |
T |
G |
5: 31,350,298 (GRCm39) |
Q8P |
probably benign |
Het |
Epha6 |
A |
T |
16: 59,486,918 (GRCm39) |
V1043E |
probably benign |
Het |
Gm11562 |
G |
T |
11: 99,511,141 (GRCm39) |
Q20K |
unknown |
Het |
Gm14415 |
A |
T |
2: 176,796,114 (GRCm39) |
|
noncoding transcript |
Het |
Gm5431 |
A |
G |
11: 48,779,855 (GRCm39) |
S634P |
probably damaging |
Het |
Gpld1 |
C |
A |
13: 25,163,711 (GRCm39) |
N501K |
probably damaging |
Het |
Gsn |
C |
T |
2: 35,192,590 (GRCm39) |
R513C |
probably damaging |
Het |
Gulp1 |
T |
C |
1: 44,827,757 (GRCm39) |
F300L |
probably benign |
Het |
H2aj |
T |
C |
6: 136,785,660 (GRCm39) |
V108A |
possibly damaging |
Het |
Haus3 |
T |
C |
5: 34,325,414 (GRCm39) |
R82G |
probably benign |
Het |
Herc2 |
G |
A |
7: 55,872,734 (GRCm39) |
R4424H |
probably damaging |
Het |
Hmcn1 |
T |
A |
1: 150,553,130 (GRCm39) |
Q2520L |
probably benign |
Het |
Hs2st1 |
T |
C |
3: 144,171,014 (GRCm39) |
I53V |
probably benign |
Het |
Inpp5e |
C |
T |
2: 26,287,924 (GRCm39) |
R624Q |
probably damaging |
Het |
Ints8 |
G |
T |
4: 11,230,367 (GRCm39) |
C491* |
probably null |
Het |
Itpkb |
C |
A |
1: 180,241,460 (GRCm39) |
A710D |
probably damaging |
Het |
Kcnk4 |
A |
C |
19: 6,905,784 (GRCm39) |
|
probably null |
Het |
Kmt2d |
T |
C |
15: 98,742,368 (GRCm39) |
|
probably benign |
Het |
Lamb3 |
C |
T |
1: 193,014,622 (GRCm39) |
R594* |
probably null |
Het |
Maz |
A |
T |
7: 126,624,472 (GRCm39) |
|
probably null |
Het |
Mtr |
T |
C |
13: 12,231,752 (GRCm39) |
T651A |
probably benign |
Het |
Nbeal1 |
A |
G |
1: 60,332,062 (GRCm39) |
E2252G |
probably damaging |
Het |
Ndufa10 |
A |
G |
1: 92,397,618 (GRCm39) |
Y61H |
probably damaging |
Het |
Npat |
T |
A |
9: 53,481,789 (GRCm39) |
L1166M |
probably damaging |
Het |
Or12e1 |
A |
C |
2: 87,022,192 (GRCm39) |
I54L |
probably benign |
Het |
Or4c108 |
A |
T |
2: 88,804,055 (GRCm39) |
F60Y |
probably benign |
Het |
Or5ak20 |
A |
T |
2: 85,183,341 (GRCm39) |
*310K |
probably null |
Het |
Or5b97 |
C |
T |
19: 12,878,251 (GRCm39) |
V298M |
probably damaging |
Het |
Or5h22 |
C |
T |
16: 58,895,020 (GRCm39) |
C141Y |
probably benign |
Het |
Or5p66 |
A |
C |
7: 107,885,802 (GRCm39) |
I177S |
probably damaging |
Het |
Pcdhb3 |
T |
C |
18: 37,434,759 (GRCm39) |
F242L |
probably damaging |
Het |
Phip |
A |
G |
9: 82,841,648 (GRCm39) |
V57A |
probably benign |
Het |
Plekha7 |
A |
T |
7: 115,788,626 (GRCm39) |
|
probably null |
Het |
Pot1a |
A |
C |
6: 25,753,205 (GRCm39) |
F444V |
probably damaging |
Het |
Ppm1a |
C |
T |
12: 72,831,126 (GRCm39) |
P217L |
probably damaging |
Het |
Prepl |
A |
G |
17: 85,388,494 (GRCm39) |
F203S |
probably damaging |
Het |
Prl8a1 |
T |
C |
13: 27,759,513 (GRCm39) |
I175V |
probably benign |
Het |
Ranbp6 |
A |
T |
19: 29,787,175 (GRCm39) |
I1059N |
possibly damaging |
Het |
Rhag |
A |
G |
17: 41,122,242 (GRCm39) |
Q59R |
probably benign |
Het |
Sema4c |
A |
C |
1: 36,592,651 (GRCm39) |
|
probably null |
Het |
Sf3b3 |
T |
C |
8: 111,542,656 (GRCm39) |
D902G |
probably benign |
Het |
Tbc1d23 |
A |
G |
16: 57,019,220 (GRCm39) |
|
probably null |
Het |
Tbrg1 |
A |
T |
9: 37,566,375 (GRCm39) |
I54N |
probably damaging |
Het |
Tchh |
A |
T |
3: 93,352,993 (GRCm39) |
E811V |
unknown |
Het |
Tenm3 |
T |
A |
8: 48,754,006 (GRCm39) |
D799V |
probably damaging |
Het |
Tlr5 |
T |
C |
1: 182,801,764 (GRCm39) |
L342P |
probably damaging |
Het |
Tppp |
C |
T |
13: 74,178,996 (GRCm39) |
R146* |
probably null |
Het |
Trpm4 |
A |
T |
7: 44,967,482 (GRCm39) |
M574K |
probably damaging |
Het |
Uggt1 |
A |
T |
1: 36,195,345 (GRCm39) |
F1288Y |
probably damaging |
Het |
Uggt2 |
T |
A |
14: 119,256,298 (GRCm39) |
K1124N |
probably damaging |
Het |
Usf3 |
A |
C |
16: 44,041,459 (GRCm39) |
S1980R |
possibly damaging |
Het |
Vav2 |
T |
C |
2: 27,208,973 (GRCm39) |
D100G |
probably damaging |
Het |
Vmn2r3 |
G |
T |
3: 64,167,182 (GRCm39) |
H650N |
probably benign |
Het |
Vmn2r59 |
T |
A |
7: 41,695,218 (GRCm39) |
Y398F |
probably damaging |
Het |
Zfp619 |
A |
G |
7: 39,187,396 (GRCm39) |
D1142G |
possibly damaging |
Het |
Zfp933 |
G |
A |
4: 147,910,892 (GRCm39) |
R235* |
probably null |
Het |
|
Other mutations in Map3k20 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00327:Map3k20
|
APN |
2 |
72,242,514 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00333:Map3k20
|
APN |
2 |
72,202,320 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00505:Map3k20
|
APN |
2 |
72,219,827 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01472:Map3k20
|
APN |
2 |
72,185,897 (GRCm39) |
splice site |
probably benign |
|
IGL01982:Map3k20
|
APN |
2 |
72,128,677 (GRCm39) |
nonsense |
probably null |
|
IGL02556:Map3k20
|
APN |
2 |
72,202,239 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02831:Map3k20
|
APN |
2 |
72,202,071 (GRCm39) |
missense |
probably damaging |
1.00 |
3-1:Map3k20
|
UTSW |
2 |
72,242,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R0765:Map3k20
|
UTSW |
2 |
72,202,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R1160:Map3k20
|
UTSW |
2 |
72,271,864 (GRCm39) |
missense |
probably benign |
0.01 |
R1195:Map3k20
|
UTSW |
2 |
72,268,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R1195:Map3k20
|
UTSW |
2 |
72,268,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R1195:Map3k20
|
UTSW |
2 |
72,268,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R1406:Map3k20
|
UTSW |
2 |
72,219,838 (GRCm39) |
missense |
probably damaging |
0.99 |
R1406:Map3k20
|
UTSW |
2 |
72,219,838 (GRCm39) |
missense |
probably damaging |
0.99 |
R1509:Map3k20
|
UTSW |
2 |
72,194,968 (GRCm39) |
splice site |
probably benign |
|
R1634:Map3k20
|
UTSW |
2 |
72,240,521 (GRCm39) |
nonsense |
probably null |
|
R1723:Map3k20
|
UTSW |
2 |
72,219,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R1986:Map3k20
|
UTSW |
2 |
72,271,638 (GRCm39) |
nonsense |
probably null |
|
R2014:Map3k20
|
UTSW |
2 |
72,268,604 (GRCm39) |
missense |
probably benign |
0.00 |
R2086:Map3k20
|
UTSW |
2 |
72,228,729 (GRCm39) |
missense |
probably benign |
0.01 |
R2311:Map3k20
|
UTSW |
2 |
72,198,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R2655:Map3k20
|
UTSW |
2 |
72,263,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R3150:Map3k20
|
UTSW |
2 |
72,202,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R3781:Map3k20
|
UTSW |
2 |
72,232,699 (GRCm39) |
intron |
probably benign |
|
R3950:Map3k20
|
UTSW |
2 |
72,268,644 (GRCm39) |
missense |
probably damaging |
0.99 |
R3951:Map3k20
|
UTSW |
2 |
72,268,644 (GRCm39) |
missense |
probably damaging |
0.99 |
R3952:Map3k20
|
UTSW |
2 |
72,268,644 (GRCm39) |
missense |
probably damaging |
0.99 |
R3981:Map3k20
|
UTSW |
2 |
72,268,571 (GRCm39) |
missense |
probably damaging |
0.99 |
R3982:Map3k20
|
UTSW |
2 |
72,268,571 (GRCm39) |
missense |
probably damaging |
0.99 |
R3983:Map3k20
|
UTSW |
2 |
72,268,571 (GRCm39) |
missense |
probably damaging |
0.99 |
R4011:Map3k20
|
UTSW |
2 |
72,214,468 (GRCm39) |
splice site |
probably benign |
|
R4180:Map3k20
|
UTSW |
2 |
72,271,915 (GRCm39) |
missense |
probably damaging |
0.97 |
R4790:Map3k20
|
UTSW |
2 |
72,272,048 (GRCm39) |
missense |
probably benign |
|
R4943:Map3k20
|
UTSW |
2 |
72,202,262 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4983:Map3k20
|
UTSW |
2 |
72,232,411 (GRCm39) |
missense |
probably benign |
0.00 |
R5023:Map3k20
|
UTSW |
2 |
72,232,689 (GRCm39) |
intron |
probably benign |
|
R5157:Map3k20
|
UTSW |
2 |
72,268,558 (GRCm39) |
missense |
probably benign |
0.00 |
R5703:Map3k20
|
UTSW |
2 |
72,232,514 (GRCm39) |
missense |
probably benign |
0.00 |
R6134:Map3k20
|
UTSW |
2 |
72,240,503 (GRCm39) |
missense |
probably damaging |
0.99 |
R6322:Map3k20
|
UTSW |
2 |
72,263,814 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6418:Map3k20
|
UTSW |
2 |
72,232,457 (GRCm39) |
missense |
probably benign |
0.15 |
R6449:Map3k20
|
UTSW |
2 |
72,228,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R6495:Map3k20
|
UTSW |
2 |
72,198,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R6508:Map3k20
|
UTSW |
2 |
72,272,253 (GRCm39) |
missense |
probably benign |
0.08 |
R7016:Map3k20
|
UTSW |
2 |
72,208,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R7173:Map3k20
|
UTSW |
2 |
72,271,758 (GRCm39) |
missense |
probably benign |
0.06 |
R7319:Map3k20
|
UTSW |
2 |
72,195,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R7635:Map3k20
|
UTSW |
2 |
72,232,348 (GRCm39) |
missense |
probably benign |
0.12 |
R7641:Map3k20
|
UTSW |
2 |
72,228,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R7698:Map3k20
|
UTSW |
2 |
72,268,658 (GRCm39) |
missense |
probably benign |
0.16 |
R7698:Map3k20
|
UTSW |
2 |
72,195,025 (GRCm39) |
nonsense |
probably null |
|
R7872:Map3k20
|
UTSW |
2 |
72,202,098 (GRCm39) |
missense |
probably damaging |
0.97 |
R8008:Map3k20
|
UTSW |
2 |
72,268,613 (GRCm39) |
missense |
probably benign |
0.16 |
R8551:Map3k20
|
UTSW |
2 |
72,232,704 (GRCm39) |
intron |
probably benign |
|
R8861:Map3k20
|
UTSW |
2 |
72,219,811 (GRCm39) |
splice site |
probably benign |
|
R9284:Map3k20
|
UTSW |
2 |
72,228,755 (GRCm39) |
nonsense |
probably null |
|
R9300:Map3k20
|
UTSW |
2 |
72,202,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R9339:Map3k20
|
UTSW |
2 |
72,272,216 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9635:Map3k20
|
UTSW |
2 |
72,232,403 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9642:Map3k20
|
UTSW |
2 |
72,272,181 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Map3k20
|
UTSW |
2 |
72,128,659 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCTGCATTCTGGGATGCAG -3'
(R):5'- TCACACTGATGAGGGAAACG -3'
Sequencing Primer
(F):5'- CTGCATTCTGGGATGCAGATAAAC -3'
(R):5'- CCTAAACGAGCTTGGCCTAAGG -3'
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Posted On |
2016-03-17 |