Incidental Mutation 'R0765:Map3k20'
| ID |
72588 |
| 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 |
038945-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0765 (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 72202269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 167
(V167I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090824]
[ENSMUST00000135469]
|
| AlphaFold |
Q9ESL4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090824
AA Change: V167I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088334
Gene: ENSMUSG00000004085
AA Change: V167I
| 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 |
probably damaging
Transcript: ENSMUST00000135469
AA Change: V167I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118983
Gene: ENSMUSG00000004085
AA Change: V167I
| 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 |
0.0891 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.7%
|
| Validation Efficiency |
100% (62/62) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16a |
T |
A |
17: 35,320,827 (GRCm39) |
V425D |
probably benign |
Het |
| Ano9 |
T |
G |
7: 140,687,097 (GRCm39) |
I381L |
probably damaging |
Het |
| Apob |
C |
T |
12: 8,066,518 (GRCm39) |
L4496F |
probably benign |
Het |
| Arhgef38 |
C |
T |
3: 132,822,344 (GRCm39) |
E724K |
probably damaging |
Het |
| Atp8b4 |
T |
A |
2: 126,214,070 (GRCm39) |
|
probably null |
Het |
| Baiap2l1 |
G |
T |
5: 144,214,513 (GRCm39) |
P394T |
probably damaging |
Het |
| Btbd8 |
T |
A |
5: 107,654,800 (GRCm39) |
D354E |
probably benign |
Het |
| Cnbp |
C |
A |
6: 87,822,155 (GRCm39) |
C122F |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,375,811 (GRCm39) |
|
probably benign |
Het |
| Colq |
T |
G |
14: 31,247,994 (GRCm39) |
D408A |
possibly damaging |
Het |
| Cuzd1 |
A |
T |
7: 130,917,824 (GRCm39) |
S259T |
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,327,220 (GRCm39) |
|
probably benign |
Het |
| Dbn1 |
C |
A |
13: 55,630,107 (GRCm39) |
V112F |
probably damaging |
Het |
| Dcc |
T |
A |
18: 71,496,061 (GRCm39) |
D1028V |
probably damaging |
Het |
| Dnajb11 |
T |
C |
16: 22,681,318 (GRCm39) |
V32A |
probably damaging |
Het |
| Dsg4 |
G |
A |
18: 20,587,703 (GRCm39) |
|
probably benign |
Het |
| Dyrk1b |
C |
T |
7: 27,885,136 (GRCm39) |
|
probably benign |
Het |
| Ebf1 |
T |
A |
11: 44,759,987 (GRCm39) |
M208K |
probably damaging |
Het |
| Efhc1 |
A |
G |
1: 21,048,876 (GRCm39) |
I430V |
probably benign |
Het |
| Elovl2 |
T |
C |
13: 41,340,942 (GRCm39) |
Y181C |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,700,655 (GRCm39) |
Q225R |
probably benign |
Het |
| Frmd3 |
G |
A |
4: 74,080,004 (GRCm39) |
R332Q |
probably damaging |
Het |
| Glg1 |
A |
G |
8: 111,886,429 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
G |
A |
1: 150,684,538 (GRCm39) |
T344M |
probably damaging |
Het |
| Il1rap |
T |
G |
16: 26,529,382 (GRCm39) |
|
probably null |
Het |
| Klra1 |
A |
T |
6: 130,356,055 (GRCm39) |
|
probably benign |
Het |
| Larp7 |
C |
A |
3: 127,339,814 (GRCm39) |
K289N |
probably damaging |
Het |
| Lgr6 |
C |
A |
1: 134,921,624 (GRCm39) |
G240V |
probably benign |
Het |
| Lrp10 |
G |
T |
14: 54,705,547 (GRCm39) |
D246Y |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,776,608 (GRCm39) |
S347P |
probably damaging |
Het |
| Mybph |
T |
C |
1: 134,125,234 (GRCm39) |
V254A |
possibly damaging |
Het |
| Ndufv2 |
A |
G |
17: 66,408,073 (GRCm39) |
|
probably benign |
Het |
| Nuf2 |
A |
T |
1: 169,350,505 (GRCm39) |
|
probably benign |
Het |
| Nup210l |
T |
C |
3: 90,027,184 (GRCm39) |
Y189H |
probably damaging |
Het |
| Or4c52 |
G |
A |
2: 89,846,014 (GRCm39) |
V247I |
probably benign |
Het |
| Or51t4 |
C |
T |
7: 102,597,939 (GRCm39) |
T79I |
probably damaging |
Het |
| Or5m13 |
T |
C |
2: 85,749,049 (GRCm39) |
L260P |
probably damaging |
Het |
| Pdgfra |
C |
A |
5: 75,348,648 (GRCm39) |
|
probably benign |
Het |
| Phlpp1 |
T |
C |
1: 106,320,013 (GRCm39) |
L1336P |
probably damaging |
Het |
| Prpf38b |
T |
C |
3: 108,818,734 (GRCm39) |
T9A |
possibly damaging |
Het |
| Rnf213 |
G |
A |
11: 119,313,921 (GRCm39) |
|
probably null |
Het |
| Saal1 |
A |
T |
7: 46,349,071 (GRCm39) |
V281E |
possibly damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,030,879 (GRCm39) |
Q186* |
probably null |
Het |
| Slc6a2 |
A |
G |
8: 93,715,659 (GRCm39) |
T266A |
probably damaging |
Het |
| Snai2 |
T |
C |
16: 14,524,668 (GRCm39) |
V58A |
possibly damaging |
Het |
| Srfbp1 |
T |
C |
18: 52,623,507 (GRCm39) |
|
probably benign |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Tesk1 |
C |
T |
4: 43,446,706 (GRCm39) |
P365S |
possibly damaging |
Het |
| Tmem127 |
C |
A |
2: 127,099,069 (GRCm39) |
T201K |
probably damaging |
Het |
| Trim17 |
T |
G |
11: 58,862,195 (GRCm39) |
V409G |
possibly damaging |
Het |
| Trim43c |
C |
T |
9: 88,723,969 (GRCm39) |
T165I |
probably benign |
Het |
| Ush2a |
C |
A |
1: 188,680,771 (GRCm39) |
F4916L |
possibly damaging |
Het |
| Vmn1r89 |
A |
G |
7: 12,953,467 (GRCm39) |
M68V |
probably benign |
Het |
| Vmn2r105 |
C |
T |
17: 20,447,973 (GRCm39) |
E284K |
probably benign |
Het |
| Vmn2r105 |
T |
C |
17: 20,448,119 (GRCm39) |
D235G |
probably damaging |
Het |
| Vmn2r-ps134 |
C |
T |
17: 23,665,015 (GRCm39) |
|
noncoding transcript |
Het |
| Zdbf2 |
G |
A |
1: 63,344,882 (GRCm39) |
S1087N |
possibly damaging |
Het |
| Zfp534 |
G |
A |
4: 147,758,693 (GRCm39) |
P659S |
probably damaging |
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 |
|
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 |
|
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'- GGTTTCAACGTTAGAAACATGACGCC -3'
(R):5'- TGTGGATGACCCAACTGTCTCAGG -3'
Sequencing Primer
(F):5'- AACATGACGCCATACTTTTCTTTGG -3'
(R):5'- AACTGTCTCAGGCACAAGG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation