Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00505:Map3k20'

7164

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00505

Quality Score

Status

Chromosome

Chromosomal Location

72115981-72272954 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72219827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 253 (F253S)

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: F253S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088334
Gene: ENSMUSG00000004085
AA Change: F253S

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: F253S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118983
Gene: ENSMUSG00000004085
AA Change: F253S

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

Coding Region Coverage

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
Abca15	T	A	7: 119,968,459 (GRCm39)		probably null	Het
Akap6	A	G	12: 52,933,885 (GRCm39)	H459R	possibly damaging	Het
Anxa5	A	G	3: 36,511,646 (GRCm39)	S144P	possibly damaging	Het
Cacna1h	T	G	17: 25,600,482 (GRCm39)	T1620P	probably damaging	Het
Cdc27	T	G	11: 104,412,258 (GRCm39)	T444P	probably benign	Het
Cfap46	C	T	7: 139,240,605 (GRCm39)	S56N	probably damaging	Het
Cntnap5b	A	G	1: 100,306,886 (GRCm39)	R868G	possibly damaging	Het
Cyp2j5	A	T	4: 96,519,012 (GRCm39)	N421K	probably damaging	Het
Dhcr7	T	C	7: 143,400,805 (GRCm39)	Y323H	probably damaging	Het
Dnai4	G	T	4: 102,960,439 (GRCm39)	S70R	possibly damaging	Het
Gabrq	T	C	X: 71,881,971 (GRCm39)	S601P	probably damaging	Het
Gm3404	T	A	5: 146,465,095 (GRCm39)	D278E	probably damaging	Het
Gpr61	A	G	3: 108,058,514 (GRCm39)	M49T	probably damaging	Het
Ndst3	G	A	3: 123,421,599 (GRCm39)		probably benign	Het
Rcor3	C	T	1: 191,812,271 (GRCm39)		probably benign	Het
Slc15a2	C	A	16: 36,574,137 (GRCm39)	C572F	probably benign	Het
Sp2	C	T	11: 96,845,387 (GRCm39)	R578H	probably damaging	Het
Spaca1	A	G	4: 34,029,077 (GRCm39)	I132T	probably damaging	Het
Spag6	C	A	2: 18,738,995 (GRCm39)	N308K	probably benign	Het
Stac	C	T	9: 111,464,107 (GRCm39)	R53Q	probably damaging	Het
Tekt3	A	G	11: 62,961,064 (GRCm39)	S78G	probably benign	Het
Vdac3	C	T	8: 23,070,393 (GRCm39)	G172S	possibly damaging	Het
Wdr87-ps	A	C	7: 29,233,608 (GRCm39)		noncoding transcript	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
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
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

Posted On

2012-04-20