Mutagenetix > Incidental Mutations

Incidental Mutation 'R5157:Map3k20'

396760

Institutional Source

Beutler Lab

Gene Symbol

Map3k20

Ensembl Gene

ENSMUSG00000004085

Gene Name

mitogen-activated protein kinase kinase kinase 20

Synonyms

MLTKalpha, Zak, MLTKbeta, B230120H23Rik

MMRRC Submission

042739-MU

Accession Numbers

Genbank: NM_023057, NM_178084; MGI: 2443258

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5157 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72285637-72442610 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72438214 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 522 (T522S)

Ref Sequence

ENSEMBL: ENSMUSP00000088334 (fasta)

Gene Model

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

AlphaFold

Q9ESL4

Predicted Effect

probably benign
Transcript: ENSMUST00000090824
AA Change: T522S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000088334
Gene: ENSMUSG00000004085
AA Change: T522S

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

Meta Mutation Damage Score

0.0577

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

100% (57/57)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	A	T	11: 51,686,066	S2T	probably benign	Het
Abca3	C	T	17: 24,408,122	R1266C	probably damaging	Het
Adap2	T	C	11: 80,156,946	F76S	probably damaging	Het
Adgb	T	A	10: 10,398,966	H747L	probably damaging	Het
Aox1	T	A	1: 58,070,063	V670D	probably damaging	Het
Ap4e1	A	G	2: 127,061,695	D839G	probably benign	Het
Arhgef11	T	A	3: 87,728,510		probably null	Het
AY074887	T	C	9: 54,950,818		probably benign	Het
Bicd1	C	G	6: 149,520,414	Q878E	probably benign	Het
Catspere1	A	T	1: 177,879,782		noncoding transcript	Het
Cnmd	T	C	14: 79,656,686	Q87R	probably benign	Het
Col24a1	G	T	3: 145,345,951	G661*	probably null	Het
Crtap	G	A	9: 114,384,792	L232F	probably damaging	Het
Ctsq	T	C	13: 61,037,099	T258A	probably benign	Het
Cyp2d26	T	C	15: 82,790,989	Q388R	probably benign	Het
Ddb1	A	T	19: 10,622,364	T646S	probably benign	Het
Dnah6	G	T	6: 73,195,634	S280R	probably benign	Het
Dzank1	T	C	2: 144,483,412	H545R	probably damaging	Het
Ehhadh	T	A	16: 21,766,511	M207L	probably benign	Het
Elmo2	T	A	2: 165,291,707		probably benign	Het
Golga3	G	A	5: 110,202,671	A731T	probably benign	Het
Igsf21	T	C	4: 140,028,067	T426A	possibly damaging	Het
Kcnf1	T	C	12: 17,174,741	E493G	probably benign	Het
Lmna	A	T	3: 88,484,107	D364E	probably damaging	Het
Lsr	T	C	7: 30,966,040	Y163C	probably damaging	Het
Mpp5	T	A	12: 78,820,815	M324K	possibly damaging	Het
Mroh9	C	A	1: 163,044,121	A598S	probably damaging	Het
Msln	T	C	17: 25,752,983	M87V	probably benign	Het
Olfr1155	T	A	2: 87,942,888	M247L	probably benign	Het
Olfr1197	T	A	2: 88,729,548	Q17L	probably benign	Het
Olfr292	A	G	7: 86,695,232	K259E	probably benign	Het
Olfr385	T	C	11: 73,589,723	N5S	probably damaging	Het
Plekhg5	T	A	4: 152,107,865		probably benign	Het
Pprc1	G	T	19: 46,064,758		probably benign	Het
Ptprm	T	A	17: 66,957,097	K385I	probably benign	Het
Rfxap	T	A	3: 54,804,517	N215I	probably damaging	Het
Slc16a7	A	T	10: 125,233,464	Y114*	probably null	Het
Smarcb1	G	T	10: 75,911,794		probably benign	Het
Spef2	T	A	15: 9,668,791	R770*	probably null	Het
Stard9	A	T	2: 120,697,861	Y1533F	probably benign	Het
Tbcd	A	T	11: 121,610,027	Y1142F	probably benign	Het
Ttc23l	G	T	15: 10,551,550	T30K	possibly damaging	Het
Uba7	G	A	9: 107,980,047	V703I	probably benign	Het
Upb1	T	C	10: 75,412,804	S53P	possibly damaging	Het
Zfp672	A	G	11: 58,316,851	S215P	possibly damaging	Het
Zfp978	T	A	4: 147,390,980	L328H	probably damaging	Het

Other mutations in Map3k20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Map3k20	APN	2	72412170	missense	probably damaging	1.00
IGL00333:Map3k20	APN	2	72371976	missense	probably damaging	0.99
IGL00505:Map3k20	APN	2	72389483	missense	probably damaging	1.00
IGL01472:Map3k20	APN	2	72355553	splice site	probably benign
IGL01982:Map3k20	APN	2	72298333	nonsense	probably null
IGL02556:Map3k20	APN	2	72371895	missense	probably damaging	0.98
IGL02831:Map3k20	APN	2	72371727	missense	probably damaging	1.00
3-1:Map3k20	UTSW	2	72412125	missense	probably damaging	1.00
R0765:Map3k20	UTSW	2	72371925	missense	probably damaging	1.00
R1160:Map3k20	UTSW	2	72441520	missense	probably benign	0.01
R1195:Map3k20	UTSW	2	72438218	missense	probably damaging	1.00
R1195:Map3k20	UTSW	2	72438218	missense	probably damaging	1.00
R1195:Map3k20	UTSW	2	72438218	missense	probably damaging	1.00
R1406:Map3k20	UTSW	2	72389494	missense	probably damaging	0.99
R1406:Map3k20	UTSW	2	72389494	missense	probably damaging	0.99
R1509:Map3k20	UTSW	2	72364624	splice site	probably benign
R1634:Map3k20	UTSW	2	72410177	nonsense	probably null
R1723:Map3k20	UTSW	2	72389492	missense	probably damaging	1.00
R1986:Map3k20	UTSW	2	72441294	nonsense	probably null
R2014:Map3k20	UTSW	2	72438260	missense	probably benign	0.00
R2086:Map3k20	UTSW	2	72398385	missense	probably benign	0.01
R2311:Map3k20	UTSW	2	72368440	missense	probably damaging	1.00
R2655:Map3k20	UTSW	2	72433420	missense	probably damaging	1.00
R3150:Map3k20	UTSW	2	72371992	missense	probably damaging	1.00
R3781:Map3k20	UTSW	2	72402355	intron	probably benign
R3950:Map3k20	UTSW	2	72438300	missense	probably damaging	0.99
R3951:Map3k20	UTSW	2	72438300	missense	probably damaging	0.99
R3952:Map3k20	UTSW	2	72438300	missense	probably damaging	0.99
R3981:Map3k20	UTSW	2	72438227	missense	probably damaging	0.99
R3982:Map3k20	UTSW	2	72438227	missense	probably damaging	0.99
R3983:Map3k20	UTSW	2	72438227	missense	probably damaging	0.99
R4011:Map3k20	UTSW	2	72384124	splice site	probably benign
R4180:Map3k20	UTSW	2	72441571	missense	probably damaging	0.97
R4790:Map3k20	UTSW	2	72441704	missense	probably benign
R4895:Map3k20	UTSW	2	72402356	intron	probably benign
R4943:Map3k20	UTSW	2	72371918	missense	possibly damaging	0.90
R4983:Map3k20	UTSW	2	72402067	missense	probably benign	0.00
R5023:Map3k20	UTSW	2	72402345	intron	probably benign
R5703:Map3k20	UTSW	2	72402170	missense	probably benign	0.00
R6134:Map3k20	UTSW	2	72410159	missense	probably damaging	0.99
R6322:Map3k20	UTSW	2	72433470	missense	possibly damaging	0.95
R6418:Map3k20	UTSW	2	72402113	missense	probably benign	0.15
R6449:Map3k20	UTSW	2	72398414	missense	probably damaging	1.00
R6495:Map3k20	UTSW	2	72368419	missense	probably damaging	1.00
R6508:Map3k20	UTSW	2	72441909	missense	probably benign	0.08
R7016:Map3k20	UTSW	2	72378635	missense	probably damaging	1.00
R7173:Map3k20	UTSW	2	72441414	missense	probably benign	0.06
R7319:Map3k20	UTSW	2	72364718	missense	probably damaging	1.00
R7635:Map3k20	UTSW	2	72402004	missense	probably benign	0.12
R7641:Map3k20	UTSW	2	72398361	missense	probably damaging	1.00
R7698:Map3k20	UTSW	2	72364681	nonsense	probably null
R7698:Map3k20	UTSW	2	72438314	missense	probably benign	0.16
R7872:Map3k20	UTSW	2	72371754	missense	probably damaging	0.97
R8008:Map3k20	UTSW	2	72438269	missense	probably benign	0.16
R8551:Map3k20	UTSW	2	72402360	intron	probably benign
R9284:Map3k20	UTSW	2	72398411	nonsense	probably null
R9300:Map3k20	UTSW	2	72371913	missense	probably damaging	1.00
R9339:Map3k20	UTSW	2	72441872	missense	possibly damaging	0.92
Z1177:Map3k20	UTSW	2	72298315	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGAAAGGACACTGAATCCATTATG -3'
(R):5'- ATCTGAGCCACCTCTGCCTG -3'

Sequencing Primer
(F):5'- CACTGAATCCATTATGAGAAAGGG -3'
(R):5'- TCCTCTGCAATGGGAATCTCATAAC -3'

Posted On

2016-06-21