Incidental Mutation 'R6322:Map3k20'
| ID |
510138 |
| 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 |
044476-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6322 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
72115981-72272954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 72263814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 488
(L488V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090824]
|
| AlphaFold |
Q9ESL4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090824
AA Change: L488V
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000088334
Gene: ENSMUSG00000004085
AA Change: L488V
| 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 |
0.0794 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
98% (51/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,559,843 (GRCm39) |
V211A |
probably benign |
Het |
| Adora3 |
G |
A |
3: 105,814,760 (GRCm39) |
R170H |
probably benign |
Het |
| Aldh1l1 |
T |
C |
6: 90,539,680 (GRCm39) |
I203T |
probably benign |
Het |
| Alox12b |
T |
C |
11: 69,049,199 (GRCm39) |
Y83H |
possibly damaging |
Het |
| Atcay |
A |
T |
10: 81,049,125 (GRCm39) |
I159K |
probably damaging |
Het |
| Blvra |
A |
G |
2: 126,922,459 (GRCm39) |
|
probably benign |
Het |
| Catspere2 |
T |
A |
1: 177,845,296 (GRCm39) |
Y105* |
probably null |
Het |
| Celsr2 |
A |
G |
3: 108,319,890 (GRCm39) |
F974S |
probably damaging |
Het |
| Cfap44 |
C |
T |
16: 44,254,029 (GRCm39) |
R918* |
probably null |
Het |
| Cpa6 |
T |
A |
1: 10,547,346 (GRCm39) |
R181S |
possibly damaging |
Het |
| Dlg1 |
A |
G |
16: 31,675,297 (GRCm39) |
N730D |
probably damaging |
Het |
| Eif2ak1 |
A |
G |
5: 143,835,913 (GRCm39) |
T535A |
probably benign |
Het |
| Fam13c |
A |
T |
10: 70,334,721 (GRCm39) |
D149V |
probably damaging |
Het |
| Fam171a1 |
G |
A |
2: 3,227,392 (GRCm39) |
V717I |
probably benign |
Het |
| Fchsd1 |
A |
G |
18: 38,098,753 (GRCm39) |
V290A |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm15446 |
A |
T |
5: 110,091,383 (GRCm39) |
H545L |
probably damaging |
Het |
| Heatr9 |
T |
G |
11: 83,407,538 (GRCm39) |
K215T |
possibly damaging |
Het |
| Hfe |
T |
A |
13: 23,889,879 (GRCm39) |
H210L |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,066,543 (GRCm39) |
T1113A |
probably damaging |
Het |
| Lipe |
A |
T |
7: 25,079,961 (GRCm39) |
V686E |
probably damaging |
Het |
| Moxd1 |
C |
T |
10: 24,160,709 (GRCm39) |
T454I |
probably damaging |
Het |
| Mrpl58 |
C |
T |
11: 115,301,492 (GRCm39) |
R189* |
probably null |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nkx1-1 |
T |
C |
5: 33,588,389 (GRCm39) |
N300D |
probably damaging |
Het |
| Nrm |
A |
T |
17: 36,175,605 (GRCm39) |
Q237L |
possibly damaging |
Het |
| Numa1 |
T |
C |
7: 101,650,127 (GRCm39) |
L1286P |
probably damaging |
Het |
| Or4f4-ps1 |
T |
C |
2: 111,329,729 (GRCm39) |
F44S |
possibly damaging |
Het |
| Pappa |
C |
A |
4: 65,232,896 (GRCm39) |
A1345D |
probably damaging |
Het |
| Pds5a |
T |
C |
5: 65,854,177 (GRCm39) |
I22V |
probably benign |
Het |
| Phf21b |
C |
A |
15: 84,671,580 (GRCm39) |
R438L |
possibly damaging |
Het |
| Pik3r5 |
T |
C |
11: 68,383,567 (GRCm39) |
L462P |
probably benign |
Het |
| Plagl2 |
T |
C |
2: 153,073,806 (GRCm39) |
E365G |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,436,675 (GRCm39) |
Y677C |
possibly damaging |
Het |
| Pramel13 |
A |
G |
4: 144,119,475 (GRCm39) |
M364T |
probably benign |
Het |
| Prkcd |
C |
A |
14: 30,321,620 (GRCm39) |
G410W |
probably damaging |
Het |
| Rgl1 |
T |
C |
1: 152,428,186 (GRCm39) |
I348V |
probably damaging |
Het |
| Rnmt |
C |
T |
18: 68,452,285 (GRCm39) |
P386S |
probably damaging |
Het |
| Rtn3 |
G |
A |
19: 7,435,503 (GRCm39) |
P163L |
possibly damaging |
Het |
| Sfxn1 |
T |
C |
13: 54,258,869 (GRCm39) |
C275R |
possibly damaging |
Het |
| Sh2b2 |
A |
G |
5: 136,253,042 (GRCm39) |
S377P |
probably damaging |
Het |
| Sh3bp1 |
C |
T |
15: 78,795,715 (GRCm39) |
P615S |
probably damaging |
Het |
| Simc1 |
T |
C |
13: 54,698,382 (GRCm39) |
L1334S |
probably damaging |
Het |
| Slc9a2 |
C |
A |
1: 40,781,813 (GRCm39) |
Y347* |
probably null |
Het |
| Snapc5 |
T |
A |
9: 64,089,455 (GRCm39) |
I71K |
probably damaging |
Het |
| Tmem161a |
T |
C |
8: 70,634,764 (GRCm39) |
F447S |
probably damaging |
Het |
| Tns3 |
A |
G |
11: 8,442,147 (GRCm39) |
C739R |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,983,808 (GRCm39) |
V28D |
possibly damaging |
Het |
| Ubr3 |
C |
T |
2: 69,786,429 (GRCm39) |
Q848* |
probably null |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
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 |
|
|
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 |
|
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'- AAATAAGGCGCTCCCACATG -3'
(R):5'- TCCTTCTAACACTGAAGAGCTC -3'
Sequencing Primer
(F):5'- TAAGGCGCTCCCACATGACTTC -3'
(R):5'- CACTGCTGCGGTATTCT -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation