Mutagenetix > Incidental Mutation

Incidental Mutation 'R6793:Mapk4'

532721

Institutional Source

Beutler Lab

Gene Symbol

Mapk4

Ensembl Gene

ENSMUSG00000024558

Gene Name

mitogen-activated protein kinase 4

Synonyms

p63Mapk, A330097D03Rik, Erk3-related

MMRRC Submission

044906-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6793 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74061557-74198430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74063539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 561 (N561I)

Ref Sequence

ENSEMBL: ENSMUSP00000089462 (fasta)

Gene Model

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

AlphaFold

Q6P5G0

Predicted Effect

probably damaging
Transcript: ENSMUST00000091851
AA Change: N561I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000089462
Gene: ENSMUSG00000024558
AA Change: N561I

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: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	A	T	9: 124,058,052 (GRCm39)	N19K	possibly damaging	Het
A2ml1	G	A	6: 128,523,292 (GRCm39)	Q1215*	probably null	Het
Abraxas2	T	C	7: 132,476,563 (GRCm39)	I98T	probably damaging	Het
Ankrd17	G	A	5: 90,413,371 (GRCm39)	T1181I	probably damaging	Het
Bsn	T	A	9: 107,991,814 (GRCm39)	K1313*	probably null	Het
Chst4	A	T	8: 110,756,699 (GRCm39)	V388D	probably damaging	Het
Ckap5	T	G	2: 91,399,054 (GRCm39)	W613G	probably damaging	Het
Clock	GACTCACT	GACT	5: 76,384,967 (GRCm39)		probably null	Het
Enpp1	T	C	10: 24,531,723 (GRCm39)	D520G	probably damaging	Het
Epha3	T	C	16: 63,593,818 (GRCm39)	N90S	probably benign	Het
Esp36	A	T	17: 38,728,005 (GRCm39)	M92K	unknown	Het
Fam135a	A	G	1: 24,107,006 (GRCm39)	V44A	possibly damaging	Het
Fndc8	T	C	11: 82,788,412 (GRCm39)	S81P	probably damaging	Het
Fsip2	T	G	2: 82,819,838 (GRCm39)	N5190K	probably benign	Het
Gabrr1	T	G	4: 33,162,712 (GRCm39)	V426G	possibly damaging	Het
Igkv6-15	T	A	6: 70,383,976 (GRCm39)	M1L	probably benign	Het
Lrrc36	A	G	8: 106,185,065 (GRCm39)	E614G	probably damaging	Het
Man1a2	A	T	3: 100,539,913 (GRCm39)	I176K	possibly damaging	Het
Med15	A	T	16: 17,470,567 (GRCm39)		probably benign	Het
Mfsd2a	A	G	4: 122,844,498 (GRCm39)	V258A	probably benign	Het
Micu3	G	A	8: 40,833,736 (GRCm39)	V457I	probably damaging	Het
Mov10l1	T	A	15: 88,880,387 (GRCm39)	V291E	possibly damaging	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Ncbp1	T	C	4: 46,157,827 (GRCm39)	I355T	probably damaging	Het
Or51s1	A	G	7: 102,558,935 (GRCm39)	V37A	probably benign	Het
Or52ad1	T	C	7: 102,995,473 (GRCm39)	T221A	probably benign	Het
Otub2	A	G	12: 103,355,278 (GRCm39)		probably benign	Het
Pcdh15	T	C	10: 74,466,971 (GRCm39)	S1666P	probably damaging	Het
Pcdha12	T	A	18: 37,155,234 (GRCm39)	V651E	probably damaging	Het
Pomt1	T	C	2: 32,132,961 (GRCm39)	F186L	probably damaging	Het
Prl3d3	G	A	13: 27,345,044 (GRCm39)	A140T	probably benign	Het
Ptprn	G	A	1: 75,234,786 (GRCm39)	T267I	probably benign	Het
Qrfprl	C	T	6: 65,358,405 (GRCm39)	A43V	probably benign	Het
Rhbdd2	T	A	5: 135,665,008 (GRCm39)	I113N	probably damaging	Het
Saraf	T	A	8: 34,635,767 (GRCm39)		probably null	Het
Slc41a2	T	C	10: 83,137,022 (GRCm39)		probably null	Het
Slc47a1	A	G	11: 61,250,229 (GRCm39)	V352A	probably benign	Het
Tmem237	T	C	1: 59,153,375 (GRCm39)	T49A	probably benign	Het
Tmem273	A	C	14: 32,528,778 (GRCm39)	I48L	probably benign	Het
Tmprss11e	C	T	5: 86,863,414 (GRCm39)	C217Y	probably damaging	Het
Ubfd1	T	C	7: 121,667,103 (GRCm39)	V140A	probably benign	Het
Utrn	A	G	10: 12,516,669 (GRCm39)		probably null	Het
Utrn	T	A	10: 12,574,844 (GRCm39)	I1028F	possibly damaging	Het
Virma	C	T	4: 11,539,968 (GRCm39)	T1479M	probably damaging	Het
Vwa7	G	T	17: 35,243,867 (GRCm39)	R767L	probably benign	Het
Wdfy3	A	T	5: 102,065,297 (GRCm39)	Y1290*	probably null	Het
Zfp970	G	A	2: 177,167,338 (GRCm39)	C304Y	probably damaging	Het

Other mutations in Mapk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02396:Mapk4	APN	18	74,067,068 (GRCm39)	splice site	probably null
IGL02621:Mapk4	APN	18	74,103,346 (GRCm39)	missense	probably damaging	1.00
IGL03068:Mapk4	APN	18	74,103,415 (GRCm39)	missense	probably damaging	1.00
R0041:Mapk4	UTSW	18	74,068,109 (GRCm39)	missense	probably damaging	1.00
R0519:Mapk4	UTSW	18	74,103,392 (GRCm39)	missense	probably damaging	1.00
R0636:Mapk4	UTSW	18	74,063,525 (GRCm39)	missense	probably benign
R0918:Mapk4	UTSW	18	74,103,408 (GRCm39)	missense	probably damaging	1.00
R1654:Mapk4	UTSW	18	74,064,010 (GRCm39)	missense	probably damaging	1.00
R2913:Mapk4	UTSW	18	74,068,236 (GRCm39)	missense	probably benign	0.34
R2914:Mapk4	UTSW	18	74,068,236 (GRCm39)	missense	probably benign	0.34
R4089:Mapk4	UTSW	18	74,063,530 (GRCm39)	missense	probably damaging	1.00
R4414:Mapk4	UTSW	18	74,063,609 (GRCm39)	missense	possibly damaging	0.76
R4487:Mapk4	UTSW	18	74,064,046 (GRCm39)	missense	probably damaging	1.00
R4792:Mapk4	UTSW	18	74,070,321 (GRCm39)	missense	probably damaging	0.98
R5445:Mapk4	UTSW	18	74,064,073 (GRCm39)	missense	probably benign	0.00
R5597:Mapk4	UTSW	18	74,070,341 (GRCm39)	missense	probably benign	0.12
R5654:Mapk4	UTSW	18	74,103,365 (GRCm39)	missense	probably damaging	1.00
R6700:Mapk4	UTSW	18	74,063,882 (GRCm39)	missense	probably damaging	1.00
R7200:Mapk4	UTSW	18	74,063,990 (GRCm39)	missense	possibly damaging	0.92
R7335:Mapk4	UTSW	18	74,070,338 (GRCm39)	missense	possibly damaging	0.75
R8010:Mapk4	UTSW	18	74,063,647 (GRCm39)	missense	probably benign	0.04
R8269:Mapk4	UTSW	18	74,063,622 (GRCm39)	missense	probably damaging	0.99
R8736:Mapk4	UTSW	18	74,103,396 (GRCm39)	missense	probably benign	0.01
Z1176:Mapk4	UTSW	18	74,070,255 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTGCTAACCCCAACGCAG -3'
(R):5'- ATTGCACAGTGGGTCAAGAGC -3'

Sequencing Primer
(F):5'- CCCAACGCAGCAGAGAGG -3'
(R):5'- CACACAAAGTGGCTCTGAGCG -3'

Posted On

2018-08-29