Incidental Mutation 'R6134:Map3k20'
ID |
487263 |
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 |
044281-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6134 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
72115981-72272954 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 72240503 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Phenylalanine
at position 333
(S333F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088334
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090824]
[ENSMUST00000135469]
|
AlphaFold |
Q9ESL4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090824
AA Change: S333F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000088334 Gene: ENSMUSG00000004085 AA Change: S333F
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 |
probably benign
Transcript: ENSMUST00000135469
|
SMART Domains |
Protein: ENSMUSP00000118983 Gene: ENSMUSG00000004085
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 |
0.1094 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
94% (51/54) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
G |
A |
11: 58,767,619 (GRCm39) |
E39K |
probably damaging |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Aktip |
T |
A |
8: 91,856,388 (GRCm39) |
S30C |
probably damaging |
Het |
Anxa10 |
G |
T |
8: 62,530,977 (GRCm39) |
H78N |
probably damaging |
Het |
Aoah |
C |
T |
13: 21,095,293 (GRCm39) |
R196W |
probably damaging |
Het |
Arl4c |
A |
T |
1: 88,629,152 (GRCm39) |
W79R |
probably damaging |
Het |
Brd2 |
A |
T |
17: 34,332,669 (GRCm39) |
D178E |
probably benign |
Het |
Cacna1e |
G |
A |
1: 154,577,037 (GRCm39) |
P120L |
probably damaging |
Het |
Cdh16 |
A |
T |
8: 105,342,697 (GRCm39) |
M17K |
probably benign |
Het |
Cdhr17 |
A |
T |
5: 17,029,683 (GRCm39) |
D473V |
probably damaging |
Het |
Chit1 |
A |
G |
1: 134,071,798 (GRCm39) |
T103A |
possibly damaging |
Het |
Clcn3 |
T |
C |
8: 61,387,607 (GRCm39) |
Y214C |
probably damaging |
Het |
Coch |
T |
A |
12: 51,649,536 (GRCm39) |
D282E |
probably damaging |
Het |
Col1a2 |
C |
A |
6: 4,538,035 (GRCm39) |
S1181R |
unknown |
Het |
Col6a2 |
T |
C |
10: 76,442,978 (GRCm39) |
D506G |
probably damaging |
Het |
Crx |
A |
T |
7: 15,602,032 (GRCm39) |
Y215* |
probably null |
Het |
Fasn |
A |
T |
11: 120,713,012 (GRCm39) |
S58T |
probably benign |
Het |
Fhip1a |
T |
C |
3: 85,580,651 (GRCm39) |
E518G |
possibly damaging |
Het |
Garem1 |
A |
T |
18: 21,262,881 (GRCm39) |
D644E |
probably benign |
Het |
H2-Q2 |
A |
C |
17: 35,562,217 (GRCm39) |
T155P |
probably damaging |
Het |
Insr |
A |
T |
8: 3,242,572 (GRCm39) |
I49N |
probably damaging |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Lnpep |
A |
G |
17: 17,773,454 (GRCm39) |
M639T |
probably benign |
Het |
Lypd11 |
G |
A |
7: 24,425,481 (GRCm39) |
A3V |
probably damaging |
Het |
Miga2 |
A |
G |
2: 30,261,229 (GRCm39) |
S175G |
probably benign |
Het |
Muc3a |
A |
T |
5: 137,244,579 (GRCm39) |
I191N |
probably damaging |
Het |
Ncoa2 |
A |
G |
1: 13,244,595 (GRCm39) |
V701A |
probably damaging |
Het |
Nid2 |
T |
C |
14: 19,828,851 (GRCm39) |
V565A |
probably damaging |
Het |
Nova2 |
G |
A |
7: 18,691,794 (GRCm39) |
A244T |
unknown |
Het |
Numbl |
G |
C |
7: 26,980,739 (GRCm39) |
A574P |
probably damaging |
Het |
Oas3 |
A |
G |
5: 120,907,113 (GRCm39) |
V508A |
unknown |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
Pcdhb21 |
T |
A |
18: 37,647,461 (GRCm39) |
S197T |
probably benign |
Het |
Pck2 |
T |
A |
14: 55,781,419 (GRCm39) |
M180K |
probably damaging |
Het |
Pgr |
T |
C |
9: 8,900,740 (GRCm39) |
V91A |
possibly damaging |
Het |
Phtf1 |
A |
T |
3: 103,911,721 (GRCm39) |
M643L |
probably damaging |
Het |
Prokr1 |
T |
C |
6: 87,565,837 (GRCm39) |
T3A |
possibly damaging |
Het |
Ptgs1 |
T |
C |
2: 36,141,190 (GRCm39) |
Y546H |
probably damaging |
Het |
Rasa1 |
A |
G |
13: 85,374,745 (GRCm39) |
L742P |
probably benign |
Het |
Rbbp6 |
T |
C |
7: 122,596,534 (GRCm39) |
|
probably null |
Het |
Rgs22 |
A |
G |
15: 36,107,194 (GRCm39) |
L64P |
probably damaging |
Het |
Rnf213 |
A |
T |
11: 119,302,296 (GRCm39) |
I407F |
probably damaging |
Het |
Rp1l1 |
C |
T |
14: 64,267,545 (GRCm39) |
P1044S |
probably damaging |
Het |
Scin |
G |
A |
12: 40,110,578 (GRCm39) |
P690L |
probably damaging |
Het |
Septin9 |
T |
C |
11: 117,242,987 (GRCm39) |
L58P |
probably damaging |
Het |
Slc1a7 |
A |
G |
4: 107,869,633 (GRCm39) |
E566G |
probably damaging |
Het |
Speer4f1 |
G |
A |
5: 17,681,140 (GRCm39) |
R6Q |
probably benign |
Het |
Tnxb |
A |
T |
17: 34,890,986 (GRCm39) |
Y443F |
probably damaging |
Het |
Trpv1 |
A |
G |
11: 73,135,143 (GRCm39) |
I79V |
probably benign |
Het |
Ttll6 |
C |
T |
11: 96,030,568 (GRCm39) |
T245I |
possibly damaging |
Het |
Vmn2r26 |
T |
C |
6: 124,038,444 (GRCm39) |
I673T |
probably damaging |
Het |
Zfp60 |
T |
C |
7: 27,449,323 (GRCm39) |
F664L |
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 |
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'- GACTGGCTCTGAGAAGTGAG -3'
(R):5'- TCTCCTAAGGCTTGAAGACCTAG -3'
Sequencing Primer
(F):5'- CTGAGAAGTGAGGGAACGGTTTTC -3'
(R):5'- GACCTAGTTGCTTTTACCATAGAGTC -3'
|
Posted On |
2017-10-10 |