Incidental Mutation 'R2086:Map3k20'
ID |
229968 |
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 |
040091-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2086 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
72115981-72272954 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72228729 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 316
(K316R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118983
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090824]
[ENSMUST00000135469]
|
AlphaFold |
Q9ESL4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090824
AA Change: K316R
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000088334 Gene: ENSMUSG00000004085 AA Change: K316R
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 benign
Transcript: ENSMUST00000135469
AA Change: K316R
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000118983 Gene: ENSMUSG00000004085 AA Change: K316R
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 |
0.0700 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
99% (80/81) |
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 |
4930533L02Rik |
T |
C |
7: 124,917,767 (GRCm39) |
M53T |
unknown |
Het |
Abcb11 |
T |
A |
2: 69,089,820 (GRCm39) |
|
probably benign |
Het |
Acap2 |
C |
G |
16: 30,929,763 (GRCm39) |
A432P |
probably damaging |
Het |
Adamtsl1 |
A |
G |
4: 86,146,249 (GRCm39) |
R302G |
probably damaging |
Het |
Aoc1l1 |
A |
G |
6: 48,954,536 (GRCm39) |
E558G |
probably damaging |
Het |
Ap2b1 |
T |
G |
11: 83,241,944 (GRCm39) |
S608A |
possibly damaging |
Het |
Atp13a3 |
T |
A |
16: 30,171,116 (GRCm39) |
T310S |
possibly damaging |
Het |
Atp6v1b1 |
T |
C |
6: 83,734,834 (GRCm39) |
V382A |
probably benign |
Het |
Atp6v1g1 |
T |
A |
4: 63,468,304 (GRCm39) |
F102L |
probably benign |
Het |
B430306N03Rik |
T |
A |
17: 48,623,810 (GRCm39) |
V37D |
probably damaging |
Het |
Cacna1d |
T |
C |
14: 29,769,314 (GRCm39) |
Y1872C |
possibly damaging |
Het |
Carf |
T |
A |
1: 60,148,570 (GRCm39) |
Y54N |
probably damaging |
Het |
Cct5 |
T |
C |
15: 31,594,349 (GRCm39) |
E256G |
probably damaging |
Het |
Cd5 |
A |
G |
19: 10,700,620 (GRCm39) |
S295P |
probably benign |
Het |
Cenpb |
T |
C |
2: 131,020,517 (GRCm39) |
|
probably benign |
Het |
Cntnap3 |
A |
G |
13: 64,942,076 (GRCm39) |
M218T |
possibly damaging |
Het |
Colec11 |
C |
T |
12: 28,644,786 (GRCm39) |
R236H |
probably damaging |
Het |
Crem |
T |
A |
18: 3,288,098 (GRCm39) |
|
probably benign |
Het |
Csnk2a1 |
A |
G |
2: 152,096,201 (GRCm39) |
N58S |
probably benign |
Het |
Cyp2a4 |
T |
G |
7: 26,011,733 (GRCm39) |
M318R |
probably damaging |
Het |
Dhrs1 |
T |
A |
14: 55,981,116 (GRCm39) |
Q98L |
probably null |
Het |
Dnah11 |
G |
T |
12: 118,077,606 (GRCm39) |
Q1296K |
possibly damaging |
Het |
Edc4 |
T |
A |
8: 106,614,634 (GRCm39) |
D105E |
probably damaging |
Het |
Eid2b |
C |
T |
7: 27,977,198 (GRCm39) |
|
probably benign |
Het |
Exoc1 |
A |
T |
5: 76,680,693 (GRCm39) |
K28* |
probably null |
Het |
Fam114a1 |
A |
G |
5: 65,137,402 (GRCm39) |
D115G |
probably benign |
Het |
Fam151a |
A |
T |
4: 106,592,760 (GRCm39) |
|
probably null |
Het |
Gc |
T |
C |
5: 89,586,201 (GRCm39) |
Y313C |
probably damaging |
Het |
Gdpd1 |
A |
G |
11: 86,926,094 (GRCm39) |
Y284H |
probably benign |
Het |
Gm21957 |
T |
A |
7: 124,818,878 (GRCm39) |
|
noncoding transcript |
Het |
Golm1 |
G |
A |
13: 59,792,999 (GRCm39) |
Q169* |
probably null |
Het |
Greb1l |
T |
C |
18: 10,523,281 (GRCm39) |
V813A |
probably damaging |
Het |
Itih1 |
C |
T |
14: 30,659,800 (GRCm39) |
A279T |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lama1 |
T |
C |
17: 68,124,618 (GRCm39) |
C2893R |
probably damaging |
Het |
Lama3 |
T |
A |
18: 12,657,887 (GRCm39) |
N334K |
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,472,642 (GRCm39) |
D1053G |
probably damaging |
Het |
Mapre3 |
A |
C |
5: 31,020,546 (GRCm39) |
|
probably null |
Het |
Mgam |
T |
A |
6: 40,737,962 (GRCm39) |
|
probably null |
Het |
Mical2 |
A |
C |
7: 111,917,810 (GRCm39) |
H389P |
probably benign |
Het |
Mtmr2 |
A |
G |
9: 13,711,248 (GRCm39) |
D347G |
probably damaging |
Het |
Nbeal2 |
G |
A |
9: 110,463,139 (GRCm39) |
L1309F |
probably benign |
Het |
Nid2 |
G |
A |
14: 19,828,111 (GRCm39) |
G516S |
probably benign |
Het |
Nodal |
A |
T |
10: 61,259,077 (GRCm39) |
E171D |
possibly damaging |
Het |
Notch2 |
T |
C |
3: 98,009,683 (GRCm39) |
S537P |
probably damaging |
Het |
Obox6 |
A |
G |
7: 15,567,532 (GRCm39) |
L305S |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,969,082 (GRCm39) |
D2715G |
probably damaging |
Het |
Or4k1 |
T |
A |
14: 50,377,580 (GRCm39) |
N172I |
probably damaging |
Het |
Or5g26 |
A |
C |
2: 85,494,090 (GRCm39) |
S229R |
probably benign |
Het |
Pcca |
T |
C |
14: 122,923,527 (GRCm39) |
S404P |
probably damaging |
Het |
Pcdh10 |
T |
C |
3: 45,334,906 (GRCm39) |
S407P |
probably damaging |
Het |
Plekha5 |
C |
A |
6: 140,516,044 (GRCm39) |
|
probably null |
Het |
Ptdss1 |
A |
G |
13: 67,101,619 (GRCm39) |
N72S |
probably benign |
Het |
Ptprs |
T |
C |
17: 56,761,984 (GRCm39) |
I43V |
probably null |
Het |
Pygm |
G |
A |
19: 6,441,511 (GRCm39) |
|
probably null |
Het |
Rab7 |
C |
T |
6: 87,989,300 (GRCm39) |
V57I |
probably benign |
Het |
Rasl10a |
A |
G |
11: 5,009,431 (GRCm39) |
|
probably null |
Het |
Rergl |
T |
C |
6: 139,471,832 (GRCm39) |
T106A |
probably benign |
Het |
Rnf17 |
T |
G |
14: 56,720,837 (GRCm39) |
V1023G |
probably damaging |
Het |
Rnf25 |
T |
A |
1: 74,633,126 (GRCm39) |
R409W |
probably damaging |
Het |
Rps6ka1 |
T |
C |
4: 133,600,280 (GRCm39) |
M1V |
probably null |
Het |
Rps6ka5 |
T |
C |
12: 100,585,874 (GRCm39) |
T140A |
possibly damaging |
Het |
Sbno2 |
T |
A |
10: 79,893,690 (GRCm39) |
I1204F |
possibly damaging |
Het |
Serpina16 |
A |
T |
12: 103,641,521 (GRCm39) |
I68N |
probably damaging |
Het |
Slc35a5 |
A |
G |
16: 44,964,628 (GRCm39) |
S202P |
probably damaging |
Het |
Slc35g3 |
G |
C |
11: 69,651,772 (GRCm39) |
S93W |
probably damaging |
Het |
Slc49a3 |
C |
T |
5: 108,593,487 (GRCm39) |
R117H |
probably damaging |
Het |
Smc1b |
A |
G |
15: 85,006,052 (GRCm39) |
|
probably benign |
Het |
Spag1 |
T |
C |
15: 36,227,287 (GRCm39) |
L648P |
probably damaging |
Het |
Tagap1 |
T |
C |
17: 7,224,102 (GRCm39) |
D198G |
probably benign |
Het |
Tedc2 |
T |
C |
17: 24,436,874 (GRCm39) |
E287G |
probably damaging |
Het |
Tjp1 |
C |
A |
7: 64,962,669 (GRCm39) |
R1089S |
probably damaging |
Het |
Tnrc6a |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
7: 122,761,669 (GRCm39) |
|
probably benign |
Het |
Ttc38 |
T |
A |
15: 85,722,928 (GRCm39) |
D125E |
probably benign |
Het |
Uggt1 |
C |
T |
1: 36,231,495 (GRCm39) |
R490Q |
probably null |
Het |
Uroc1 |
T |
G |
6: 90,321,096 (GRCm39) |
L224R |
probably damaging |
Het |
Vmn1r228 |
A |
T |
17: 20,997,455 (GRCm39) |
I21N |
possibly damaging |
Het |
Vmn2r102 |
T |
G |
17: 19,896,949 (GRCm39) |
L99V |
probably damaging |
Het |
Vps13c |
C |
T |
9: 67,857,571 (GRCm39) |
S2601F |
probably benign |
Het |
Zfp462 |
T |
C |
4: 55,010,830 (GRCm39) |
L932P |
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 |
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 |
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'- TCCTGGCCAATTTCAAAGCCC -3'
(R):5'- CTTTAGTTCTCAGGAGCAGGG -3'
Sequencing Primer
(F):5'- AAGCCCACACCTTAGCTTTG -3'
(R):5'- CTCAGGAGCAGGGCAGGG -3'
|
Posted On |
2014-09-18 |