Mutagenetix > Incidental Mutations

Incidental Mutation 'R8010:Mapk4'

616883

Institutional Source

Beutler Lab

Gene Symbol

Mapk4

Ensembl Gene

ENSMUSG00000024558

Gene Name

mitogen-activated protein kinase 4

Synonyms

Erk3-related, p63Mapk

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8010 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73928486-74065359 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73930576 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 525 (I525N)

Ref Sequence

ENSEMBL: ENSMUSP00000089462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091851] [ENSMUST00000159162] [ENSMUST00000162863]

Predicted Effect

probably benign
Transcript: ENSMUST00000091851
AA Change: I525N

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000089462
Gene: ENSMUSG00000024558
AA Change: I525N

Domain	Start	End	E-Value	Type
S_TKc	20	312	3.81e-79	SMART
low complexity region	462	478	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159162

SMART Domains

Protein: ENSMUSP00000123922
Gene: ENSMUSG00000024558

Domain	Start	End	E-Value	Type
Pfam:Pkinase	20	232	2.3e-58	PFAM
Pfam:Pkinase_Tyr	22	232	5.5e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162863

SMART Domains

Protein: ENSMUSP00000124408
Gene: ENSMUSG00000024558

Domain	Start	End	E-Value	Type
Pfam:Pkinase	20	192	1.7e-41	PFAM
Pfam:Pkinase_Tyr	22	189	5.9e-25	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitogen-activated protein kinase 4 is a member of the mitogen-activated protein kinase family. Tyrosine kinase growth factor receptors activate mitogen-activated protein kinases which then translocate into the nucleus and phosphorylate nuclear targets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are viabel and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,580,340	H130L	probably benign	Het
Abca1	A	G	4: 53,127,600	S140P	probably benign	Het
AI314180	T	A	4: 58,832,681	Q893L	unknown	Het
Aoc1	T	C	6: 48,905,648	Y153H	probably benign	Het
Arhgdib	A	G	6: 136,926,722	I118T	probably damaging	Het
Atp1a3	T	A	7: 24,980,645	E865V	possibly damaging	Het
Atrnl1	T	C	19: 57,682,446	V587A	probably benign	Het
C130026I21Rik	G	A	1: 85,246,950	S288L	possibly damaging	Het
Ccdc107	G	T	4: 43,495,768	E199*	probably null	Het
Cd55	A	T	1: 130,459,616	D148E	probably benign	Het
Cdc42ep1	C	T	15: 78,847,799	T148I	possibly damaging	Het
Cep164	A	T	9: 45,823,671	D19E	unknown	Het
Chsy3	A	G	18: 59,410,154	Y788C	probably damaging	Het
Cttnbp2	G	C	6: 18,426,093	A762G	possibly damaging	Het
Cubn	A	G	2: 13,336,086		probably null	Het
Ddr1	T	A	17: 35,691,492	M175L	possibly damaging	Het
Dicer1	C	A	12: 104,692,132	K1850N	probably damaging	Het
Dnajc6	C	T	4: 101,618,414	R495C	probably benign	Het
Fbxo18	A	T	2: 11,767,632	N79K	probably benign	Het
Frmpd1	T	A	4: 45,284,272	V1031D	possibly damaging	Het
Gm7298	A	G	6: 121,735,583	E118G	probably benign	Het
Hnrnpll	T	C	17: 80,061,956	T13A	unknown	Het
Jcad	A	G	18: 4,674,581	D781G	probably benign	Het
Kitl	A	T	10: 100,051,903	T25S	probably benign	Het
Krt5	T	C	15: 101,712,356	D152G	probably damaging	Het
Krtap5-5	T	C	7: 142,229,911	M1V	probably null	Het
Ktn1	C	T	14: 47,705,773	T862I	possibly damaging	Het
Megf6	T	C	4: 154,270,507	F1457S	probably benign	Het
Mrm3	A	T	11: 76,250,347	S394C	probably damaging	Het
Mtmr4	T	G	11: 87,598,864	V71G	probably damaging	Het
Nek8	T	C	11: 78,176,596	Y4C	probably damaging	Het
Olfr203	T	C	16: 59,303,504	M117T	probably damaging	Het
Olfr309	T	A	7: 86,307,052	E20D	probably benign	Het
Olfr849	A	T	9: 19,441,692	I260L	probably benign	Het
Pla2r1	T	C	2: 60,514,960	T351A	probably benign	Het
Plcb4	C	T	2: 135,907,560	T49M	probably benign	Het
Psg20	T	C	7: 18,681,067	D301G	probably benign	Het
Ptpn13	C	T	5: 103,559,937	Q1455*	probably null	Het
Rbbp8	A	T	18: 11,722,233	N505I	possibly damaging	Het
Rgs18	A	G	1: 144,756,000	C125R	probably benign	Het
Rpap2	G	A	5: 107,603,605	C105Y	probably damaging	Het
Scn10a	C	T	9: 119,661,167	G570R	possibly damaging	Het
Sell	C	T	1: 164,065,512	T99I	possibly damaging	Het
Slc14a1	A	T	18: 78,116,489	M63K	probably benign	Het
Syne2	A	T	12: 75,930,738	D1319V	probably benign	Het
Tdp2	C	T	13: 24,836,027	T99I	probably damaging	Het
Tet3	A	T	6: 83,403,246	S647T	unknown	Het
Tpd52l1	T	G	10: 31,358,013	D48A	possibly damaging	Het
Ttll10	T	C	4: 156,047,161	D169G	probably damaging	Het
Wars2	C	A	3: 99,216,830	L336I	probably benign	Het
Wdfy4	C	A	14: 32,971,627	W2906L		Het
Xdh	A	T	17: 73,909,317	Y711*	probably null	Het
Xirp1	T	A	9: 120,017,824	R664S	probably benign	Het

Other mutations in Mapk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02396:Mapk4	APN	18	73933997	splice site	probably null
IGL02621:Mapk4	APN	18	73970275	missense	probably damaging	1.00
IGL03068:Mapk4	APN	18	73970344	missense	probably damaging	1.00
R0041:Mapk4	UTSW	18	73935038	missense	probably damaging	1.00
R0519:Mapk4	UTSW	18	73970321	missense	probably damaging	1.00
R0636:Mapk4	UTSW	18	73930454	missense	probably benign
R0918:Mapk4	UTSW	18	73970337	missense	probably damaging	1.00
R1654:Mapk4	UTSW	18	73930939	missense	probably damaging	1.00
R2913:Mapk4	UTSW	18	73935165	missense	probably benign	0.34
R2914:Mapk4	UTSW	18	73935165	missense	probably benign	0.34
R4089:Mapk4	UTSW	18	73930459	missense	probably damaging	1.00
R4414:Mapk4	UTSW	18	73930538	missense	possibly damaging	0.76
R4487:Mapk4	UTSW	18	73930975	missense	probably damaging	1.00
R4792:Mapk4	UTSW	18	73937250	missense	probably damaging	0.98
R5445:Mapk4	UTSW	18	73931002	missense	probably benign	0.00
R5597:Mapk4	UTSW	18	73937270	missense	probably benign	0.12
R5654:Mapk4	UTSW	18	73970294	missense	probably damaging	1.00
R6700:Mapk4	UTSW	18	73930811	missense	probably damaging	1.00
R6793:Mapk4	UTSW	18	73930468	missense	probably damaging	1.00
R7200:Mapk4	UTSW	18	73930919	missense	possibly damaging	0.92
R7335:Mapk4	UTSW	18	73937267	missense	possibly damaging	0.75
R8269:Mapk4	UTSW	18	73930551	missense	probably damaging	0.99
R8736:Mapk4	UTSW	18	73970325	missense	probably benign	0.01
Z1176:Mapk4	UTSW	18	73937184	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACCTTTCTTTGGAGAAGGC -3'
(R):5'- TACTGTGGCGCGACAACAAG -3'

Sequencing Primer
(F):5'- AGAAGGCCTCTGTCTGCAC -3'
(R):5'- AAGCTCATCCTGGACCTGTCG -3'

Posted On

2020-01-23