Incidental Mutation 'R3952:Map3k20'
ID |
307975 |
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 |
040829-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3952 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
72115981-72272954 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 72268644 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 550
(I550M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088334
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090824]
|
AlphaFold |
Q9ESL4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090824
AA Change: I550M
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000088334 Gene: ENSMUSG00000004085 AA Change: I550M
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 |
|
Meta Mutation Damage Score |
0.2221 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
98% (46/47) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
C |
10: 100,451,158 (GRCm39) |
|
probably benign |
Het |
4932414N04Rik |
T |
C |
2: 68,494,747 (GRCm39) |
|
probably null |
Het |
Abi3bp |
C |
T |
16: 56,424,401 (GRCm39) |
T450I |
possibly damaging |
Het |
Abl1 |
A |
T |
2: 31,674,549 (GRCm39) |
T213S |
probably damaging |
Het |
Apc2 |
C |
T |
10: 80,150,318 (GRCm39) |
R1762W |
probably damaging |
Het |
Arl2 |
G |
T |
19: 6,184,707 (GRCm39) |
T182N |
probably benign |
Het |
Brd8 |
C |
G |
18: 34,747,497 (GRCm39) |
|
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,493,105 (GRCm39) |
Y3C |
probably benign |
Het |
Clca3a2 |
A |
G |
3: 144,508,822 (GRCm39) |
Y666H |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,225,707 (GRCm39) |
V3127A |
possibly damaging |
Het |
Copg1 |
G |
A |
6: 87,882,198 (GRCm39) |
A598T |
probably benign |
Het |
Dera |
A |
G |
6: 137,814,118 (GRCm39) |
Y100C |
probably damaging |
Het |
Epha1 |
C |
A |
6: 42,341,219 (GRCm39) |
L535F |
probably damaging |
Het |
Epha4 |
A |
T |
1: 77,376,353 (GRCm39) |
Y509N |
probably damaging |
Het |
Fads2b |
T |
C |
2: 85,330,548 (GRCm39) |
|
probably benign |
Het |
Ggcx |
G |
A |
6: 72,403,541 (GRCm39) |
G363R |
probably benign |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Kpna1 |
A |
T |
16: 35,823,252 (GRCm39) |
T35S |
probably benign |
Het |
Mgat4a |
A |
G |
1: 37,489,495 (GRCm39) |
|
probably benign |
Het |
Mrpl48 |
T |
A |
7: 100,209,130 (GRCm39) |
|
probably benign |
Het |
Ncapd2 |
T |
C |
6: 125,163,747 (GRCm39) |
K78E |
probably damaging |
Het |
Ndst1 |
T |
C |
18: 60,830,211 (GRCm39) |
N633S |
probably benign |
Het |
Or10a3n |
C |
A |
7: 108,493,189 (GRCm39) |
V142L |
probably benign |
Het |
Or5w10 |
T |
C |
2: 87,375,409 (GRCm39) |
T160A |
probably damaging |
Het |
Or6c69 |
A |
G |
10: 129,747,505 (GRCm39) |
I214T |
probably benign |
Het |
Pacs2 |
T |
C |
12: 113,024,733 (GRCm39) |
S408P |
probably damaging |
Het |
Pcx |
C |
T |
19: 4,667,995 (GRCm39) |
H506Y |
probably benign |
Het |
Pla2g6 |
G |
T |
15: 79,197,296 (GRCm39) |
P93T |
probably damaging |
Het |
Pramel28 |
C |
T |
4: 143,692,356 (GRCm39) |
W215* |
probably null |
Het |
Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
Rcor1 |
A |
G |
12: 111,006,169 (GRCm39) |
|
probably benign |
Het |
Rtn4ip1 |
T |
A |
10: 43,785,893 (GRCm39) |
|
probably null |
Het |
Sytl2 |
T |
A |
7: 90,030,700 (GRCm39) |
|
probably benign |
Het |
Tia1 |
T |
C |
6: 86,393,319 (GRCm39) |
F53S |
probably damaging |
Het |
Ticrr |
T |
C |
7: 79,331,817 (GRCm39) |
L776S |
probably damaging |
Het |
Tmod1 |
A |
G |
4: 46,078,315 (GRCm39) |
N41S |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,583,139 (GRCm39) |
I22585V |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ugt1a10 |
C |
A |
1: 88,143,862 (GRCm39) |
H361N |
probably damaging |
Het |
Vmn1r118 |
G |
T |
7: 20,645,933 (GRCm39) |
Q114K |
probably damaging |
Het |
Vps39 |
C |
T |
2: 120,180,656 (GRCm39) |
R43Q |
probably benign |
Het |
Vwa5b2 |
T |
C |
16: 20,417,111 (GRCm39) |
*603Q |
probably null |
Het |
Zeb1 |
G |
A |
18: 5,772,716 (GRCm39) |
A1002T |
probably benign |
Het |
Zxdc |
A |
G |
6: 90,347,449 (GRCm39) |
|
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 |
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 |
|
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'- CACTGAATCCATTATGAGAAAGGGG -3'
(R):5'- AGGCCTCATTGCTGGTTCTC -3'
Sequencing Primer
(F):5'- GGAGTGTTCCTCTTATTCAAATTCAC -3'
(R):5'- CATTGCTGGTTCTCAGGTCTCAAG -3'
|
Posted On |
2015-04-17 |