Mutagenetix > Incidental Mutation

Incidental Mutation 'R3781:Map3k20'

473547

Institutional Source

Beutler Lab

Gene Symbol

Map3k20

Ensembl Gene

ENSMUSG00000004085

Gene Name

mitogen-activated protein kinase kinase kinase 20

Synonyms

B230120H23Rik, Zak, MLTKalpha, MLTKbeta

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3781 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72115981-72272954 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 72232699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000088334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090824] [ENSMUST00000135469]

AlphaFold

Q9ESL4

Predicted Effect

probably benign
Transcript: ENSMUST00000090824

SMART Domains

Protein: ENSMUSP00000088334
Gene: ENSMUSG00000004085

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

unknown
Transcript: ENSMUST00000135469
AA Change: N452D

SMART Domains

Protein: ENSMUSP00000118983
Gene: ENSMUSG00000004085
AA Change: N452D

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bap1	T	C	14: 30,979,575 (GRCm39)	I526T	possibly damaging	Het
Calcr	T	C	6: 3,700,193 (GRCm39)	T263A	possibly damaging	Het
Cdh20	T	A	1: 109,976,734 (GRCm39)	V133E	probably benign	Het
Ddx5	T	C	11: 106,675,346 (GRCm39)	I330V	probably benign	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Gnl2	T	C	4: 124,931,399 (GRCm39)	V110A	probably damaging	Het
H2-Q10	A	G	17: 35,781,915 (GRCm39)	Y179C	possibly damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Mcm7	G	A	5: 138,162,998 (GRCm39)	R385W	probably damaging	Het
Mgat4c	A	G	10: 102,224,782 (GRCm39)	E332G	probably benign	Het
Nudt3	A	G	17: 27,799,782 (GRCm39)	S134P	possibly damaging	Het
Or1e26	C	A	11: 73,479,839 (GRCm39)	G242C	probably damaging	Het
Or1e26	A	T	11: 73,480,194 (GRCm39)	Y123*	probably null	Het
Or4c100	A	T	2: 88,356,709 (GRCm39)	T261S	probably benign	Het
Or4c107	G	T	2: 88,789,091 (GRCm39)	E94*	probably null	Het
Or51h7	T	C	7: 102,591,278 (GRCm39)	I169V	probably benign	Het
Pcnx1	A	G	12: 82,042,892 (GRCm39)	T2325A	probably benign	Het
Plekha6	A	G	1: 133,222,393 (GRCm39)	E993G	probably damaging	Het
Psmd4	T	A	3: 94,944,039 (GRCm39)	Y15F	probably benign	Het
Rad23b	C	T	4: 55,382,586 (GRCm39)	T263M	probably damaging	Het
Stpg3	T	A	2: 25,103,875 (GRCm39)	M154L	probably benign	Het
Vmn1r45	C	A	6: 89,910,799 (GRCm39)	R57L	probably benign	Het
Zfp658	G	A	7: 43,223,270 (GRCm39)	R515H	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
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

Posted On

2017-04-14