Incidental Mutation 'R4943:Map3k20'
ID |
383243 |
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 |
042540-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4943 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
72115981-72272954 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 72202262 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 164
(M164I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118983
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090824]
[ENSMUST00000135469]
|
AlphaFold |
Q9ESL4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090824
AA Change: M164I
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000088334 Gene: ENSMUSG00000004085 AA Change: M164I
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 |
possibly damaging
Transcript: ENSMUST00000135469
AA Change: M164I
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000118983 Gene: ENSMUSG00000004085 AA Change: M164I
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150126
|
Meta Mutation Damage Score |
0.1375 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
99% (81/82) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
C |
A |
13: 77,393,446 (GRCm39) |
T366K |
possibly damaging |
Het |
2510039O18Rik |
T |
A |
4: 148,029,555 (GRCm39) |
H508Q |
probably damaging |
Het |
Aadacl4fm5 |
T |
A |
4: 144,504,290 (GRCm39) |
E287V |
probably benign |
Het |
Actl9 |
G |
A |
17: 33,652,059 (GRCm39) |
V40M |
possibly damaging |
Het |
Aen |
T |
A |
7: 78,552,109 (GRCm39) |
V23E |
probably damaging |
Het |
Agbl1 |
G |
A |
7: 76,069,764 (GRCm39) |
R432K |
probably benign |
Het |
Akap13 |
T |
A |
7: 75,398,988 (GRCm39) |
F2689I |
probably benign |
Het |
Arhgap45 |
A |
G |
10: 79,862,337 (GRCm39) |
S475G |
probably benign |
Het |
Atg7 |
A |
C |
6: 114,674,045 (GRCm39) |
Q231P |
probably benign |
Het |
Calr3 |
A |
T |
8: 73,185,221 (GRCm39) |
V226D |
probably benign |
Het |
Cldn10 |
G |
A |
14: 119,025,725 (GRCm39) |
G53S |
possibly damaging |
Het |
Cops4 |
A |
T |
5: 100,695,292 (GRCm39) |
M404L |
probably benign |
Het |
Cpne4 |
A |
T |
9: 104,896,972 (GRCm39) |
H375L |
probably damaging |
Het |
D16Ertd472e |
A |
T |
16: 78,372,877 (GRCm39) |
V20D |
probably damaging |
Het |
Dcun1d5 |
T |
C |
9: 7,186,844 (GRCm39) |
F55L |
possibly damaging |
Het |
Dhx8 |
T |
A |
11: 101,628,526 (GRCm39) |
L93* |
probably null |
Het |
Dtx4 |
A |
G |
19: 12,478,424 (GRCm39) |
L53P |
probably damaging |
Het |
Ern2 |
C |
T |
7: 121,772,481 (GRCm39) |
R659H |
possibly damaging |
Het |
Etl4 |
G |
A |
2: 20,812,092 (GRCm39) |
A1392T |
probably benign |
Het |
Fat2 |
T |
C |
11: 55,169,859 (GRCm39) |
R2967G |
probably benign |
Het |
Fat4 |
A |
G |
3: 39,034,322 (GRCm39) |
D2658G |
probably benign |
Het |
Ftsj3 |
A |
G |
11: 106,140,344 (GRCm39) |
V808A |
probably damaging |
Het |
Gm10447 |
A |
T |
11: 53,347,216 (GRCm39) |
Y104* |
probably null |
Het |
Gm27013 |
A |
T |
6: 130,653,163 (GRCm39) |
C766* |
probably null |
Het |
Gm5581 |
A |
G |
6: 131,144,088 (GRCm39) |
|
noncoding transcript |
Het |
Gpr158 |
G |
A |
2: 21,831,968 (GRCm39) |
V1023I |
probably damaging |
Het |
Hectd2 |
T |
G |
19: 36,581,647 (GRCm39) |
|
probably null |
Het |
Hmcn2 |
T |
C |
2: 31,225,504 (GRCm39) |
Y138H |
probably damaging |
Het |
Kif28 |
T |
C |
1: 179,541,516 (GRCm39) |
I369V |
probably benign |
Het |
Kif4-ps |
C |
T |
12: 101,115,476 (GRCm39) |
|
noncoding transcript |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Map4k4 |
A |
G |
1: 40,058,754 (GRCm39) |
I1050V |
probably damaging |
Het |
Med23 |
T |
A |
10: 24,751,567 (GRCm39) |
V133D |
possibly damaging |
Het |
Mycn |
A |
T |
12: 12,987,080 (GRCm39) |
L439Q |
probably damaging |
Het |
Myh2 |
G |
T |
11: 67,088,143 (GRCm39) |
A1920S |
probably damaging |
Het |
Myom3 |
T |
C |
4: 135,541,585 (GRCm39) |
V1392A |
possibly damaging |
Het |
Nktr |
T |
A |
9: 121,549,020 (GRCm39) |
|
probably benign |
Het |
Nme3 |
A |
G |
17: 25,115,697 (GRCm39) |
K48E |
probably damaging |
Het |
Nt5dc1 |
T |
C |
10: 34,186,387 (GRCm39) |
R58G |
probably damaging |
Het |
Nup205 |
A |
G |
6: 35,201,574 (GRCm39) |
E1270G |
probably damaging |
Het |
Or12d16-ps1 |
G |
T |
17: 37,705,916 (GRCm39) |
A162S |
probably benign |
Het |
Or4e2 |
C |
G |
14: 52,688,051 (GRCm39) |
Y60* |
probably null |
Het |
Or51l4 |
A |
T |
7: 103,404,503 (GRCm39) |
F96L |
probably benign |
Het |
Or8c20 |
C |
T |
9: 38,260,924 (GRCm39) |
H176Y |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,762,651 (GRCm39) |
L3708P |
unknown |
Het |
Pde4dip |
A |
T |
3: 97,662,827 (GRCm39) |
N590K |
probably damaging |
Het |
Prokr1 |
A |
C |
6: 87,558,806 (GRCm39) |
I193S |
possibly damaging |
Het |
Pxdc1 |
C |
A |
13: 34,822,989 (GRCm39) |
|
probably null |
Het |
Rapgef2 |
A |
T |
3: 78,971,854 (GRCm39) |
S1494T |
probably benign |
Het |
Rbms3 |
G |
C |
9: 116,507,573 (GRCm39) |
|
probably benign |
Het |
Reep3 |
T |
A |
10: 66,932,042 (GRCm39) |
|
probably benign |
Het |
Rwdd2b |
T |
C |
16: 87,231,422 (GRCm39) |
K244R |
possibly damaging |
Het |
Srrm2 |
T |
C |
17: 24,041,389 (GRCm39) |
V2533A |
possibly damaging |
Het |
Stab2 |
T |
C |
10: 86,790,026 (GRCm39) |
Y580C |
probably damaging |
Het |
Stac2 |
G |
T |
11: 97,932,398 (GRCm39) |
S198R |
probably benign |
Het |
Tdp2 |
T |
A |
13: 25,022,248 (GRCm39) |
N222K |
probably benign |
Het |
Tex21 |
A |
G |
12: 76,268,474 (GRCm39) |
S103P |
probably damaging |
Het |
Thbs1 |
A |
T |
2: 117,943,930 (GRCm39) |
I183F |
probably damaging |
Het |
Tm9sf1 |
T |
C |
14: 55,878,625 (GRCm39) |
I256V |
probably damaging |
Het |
Tmem207 |
C |
T |
16: 26,336,603 (GRCm39) |
W50* |
probably null |
Het |
Trpm2 |
C |
A |
10: 77,801,841 (GRCm39) |
V75L |
probably damaging |
Het |
Vmn1r227 |
A |
T |
17: 20,955,623 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r13 |
C |
A |
5: 109,322,915 (GRCm39) |
V125L |
probably benign |
Het |
Vmn2r75 |
A |
T |
7: 85,814,705 (GRCm39) |
S263T |
probably damaging |
Het |
Wdr64 |
G |
A |
1: 175,547,882 (GRCm39) |
V140I |
probably benign |
Het |
Xpo4 |
T |
C |
14: 57,875,697 (GRCm39) |
I145M |
possibly damaging |
Het |
Zan |
G |
A |
5: 137,456,152 (GRCm39) |
T1336I |
unknown |
Het |
Zdbf2 |
G |
T |
1: 63,342,073 (GRCm39) |
V151F |
possibly damaging |
Het |
Zfhx3 |
T |
C |
8: 109,674,949 (GRCm39) |
S2000P |
probably damaging |
Het |
Zfp65 |
T |
A |
13: 67,859,099 (GRCm39) |
I12F |
probably damaging |
Het |
Zfp703 |
C |
A |
8: 27,469,619 (GRCm39) |
Q428K |
probably benign |
Het |
Zfp947 |
A |
C |
17: 22,364,813 (GRCm39) |
M287R |
probably benign |
Het |
Zfp976 |
A |
T |
7: 42,261,846 (GRCm39) |
|
probably benign |
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 |
|
R4895:Map3k20
|
UTSW |
2 |
72,232,700 (GRCm39) |
intron |
probably benign |
|
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'- TCCAGTTGTTATCGCTGCTG -3'
(R):5'- TGGATGACCCAACTGTCTCAG -3'
Sequencing Primer
(F):5'- GTTATCGCTGCTGACGGAG -3'
(R):5'- CTGTCTCAGGCACAAGGAAGC -3'
|
Posted On |
2016-04-27 |