Mutagenetix > Incidental Mutation

Incidental Mutation 'R8071:Map2k4'

628933

Institutional Source

Beutler Lab

Gene Symbol

Map2k4

Ensembl Gene

ENSMUSG00000033352

Gene Name

mitogen-activated protein kinase kinase 4

Synonyms

Serk1, Sek1, JNKK1, MKK4

MMRRC Submission

067506-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8071 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65579069-65679123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65597827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 264 (C264S)

Ref Sequence

ENSEMBL: ENSMUSP00000041282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046963] [ENSMUST00000125598] [ENSMUST00000140301]

AlphaFold

P47809

Predicted Effect

SMART Domains

Protein: ENSMUSP00000041282
Gene: ENSMUSG00000033352
AA Change: C264S

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
S_TKc	100	365	9.38e-79	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000125598
AA Change: C95S

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

SMART Domains

Protein: ENSMUSP00000137656
Gene: ENSMUSG00000033352
AA Change: C95S

Domain	Start	End	E-Value	Type
Pfam:Pkinase	34	128	8.4e-27	PFAM
Pfam:Kinase-like	36	128	8.9e-8	PFAM
Pfam:Pkinase_Tyr	37	129	6.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140301

SMART Domains

Protein: ENSMUSP00000137955
Gene: ENSMUSG00000033352

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 98.8%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the mitogen-activated protein kinase (MAPK) family. Members of this family act as an integration point for multiple biochemical signals and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation, and development. They form a three-tiered signaling module composed of MAPKKKs, MAPKKs, and MAPKs. This protein is phosphorylated at serine and threonine residues by MAPKKKs and subsequently phosphorylates downstream MAPK targets at threonine and tyrosine residues. A similar protein in mouse has been reported to play a role in liver organogenesis. A pseudogene of this gene is located on the long arm of chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit abnormal liver development with a deficiency of parenchymal hepatocytes, severe anemia, and lethality before embryonic day 14.0. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	T	C	5: 115,251,226 (GRCm39)	E86G	probably benign	Het
Agmo	A	G	12: 37,448,728 (GRCm39)	T217A	probably damaging	Het
Arhgap39	A	G	15: 76,621,702 (GRCm39)	S300P	probably benign	Het
Casp12	T	C	9: 5,346,647 (GRCm39)	L58P	probably damaging	Het
Ccar2	T	C	14: 70,389,902 (GRCm39)	T24A	probably benign	Het
Ccndbp1	C	A	2: 120,845,046 (GRCm39)	T321K	unknown	Het
Cd200r3	G	A	16: 44,774,503 (GRCm39)	C172Y	probably damaging	Het
Chd2	T	A	7: 73,187,132 (GRCm39)	H9L	probably benign	Het
Cracdl	C	A	1: 37,663,010 (GRCm39)	E963*	probably null	Het
Cramp1	T	A	17: 25,201,674 (GRCm39)	S603C	probably damaging	Het
Crtac1	C	T	19: 42,286,239 (GRCm39)	R448H	probably damaging	Het
Csmd2	A	T	4: 128,287,331 (GRCm39)	Y1022F		Het
Ctns	T	C	11: 73,075,760 (GRCm39)	Y363C	probably damaging	Het
D630044L22Rik	A	G	17: 26,179,118 (GRCm39)	T15A	possibly damaging	Het
Dhx38	A	C	8: 110,285,333 (GRCm39)	I444M	probably benign	Het
Dnah14	A	T	1: 181,443,459 (GRCm39)	I450F	possibly damaging	Het
Dpf1	T	C	7: 29,013,566 (GRCm39)	F245L	probably benign	Het
Efr3b	A	G	12: 4,032,898 (GRCm39)	V269A	probably benign	Het
Eprs1	G	T	1: 185,126,653 (GRCm39)	V530L	possibly damaging	Het
Eps8l2	A	G	7: 140,922,860 (GRCm39)	N41S	probably damaging	Het
Erbb4	T	C	1: 68,435,470 (GRCm39)	I142M	probably damaging	Het
Fhip1a	T	C	3: 85,637,868 (GRCm39)	M144V	probably damaging	Het
Flnc	A	T	6: 29,457,445 (GRCm39)	D2381V	probably damaging	Het
Fndc1	T	A	17: 7,991,362 (GRCm39)	D778V	unknown	Het
Galnt3	A	G	2: 65,921,555 (GRCm39)	I492T	probably benign	Het
Gigyf2	T	C	1: 87,374,155 (GRCm39)	M1261T	probably damaging	Het
Haus8	A	G	8: 71,708,695 (GRCm39)	F126S	probably benign	Het
Hif3a	A	G	7: 16,782,686 (GRCm39)	L293S	probably damaging	Het
Ino80c	G	A	18: 24,239,707 (GRCm39)	T200I	unknown	Het
Jag1	T	A	2: 136,943,717 (GRCm39)	M160L	probably benign	Het
Kcnj12	C	A	11: 60,960,825 (GRCm39)	H374Q	probably damaging	Het
Lrrc27	A	G	7: 138,816,902 (GRCm39)	I433M	probably benign	Het
Lyzl4	C	T	9: 121,407,160 (GRCm39)	W123*	probably null	Het
Mmrn1	C	T	6: 60,921,508 (GRCm39)		probably benign	Het
Mug1	C	T	6: 121,850,631 (GRCm39)	T709I	probably benign	Het
Myo9a	T	A	9: 59,781,931 (GRCm39)	W1706R	probably benign	Het
Nlrp5	A	G	7: 23,117,869 (GRCm39)	E531G	probably damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Pcdhb11	A	C	18: 37,555,422 (GRCm39)	I251L	probably benign	Het
Per3	A	G	4: 151,113,270 (GRCm39)	S353P	probably damaging	Het
Piezo1	T	C	8: 123,213,750 (GRCm39)	E1738G	probably null	Het
Prr14l	T	C	5: 32,988,508 (GRCm39)	D329G	probably benign	Het
Ptpn23	G	T	9: 110,217,267 (GRCm39)	P863Q	probably damaging	Het
Ptpn23	G	T	9: 110,217,268 (GRCm39)	P863T	possibly damaging	Het
Ptprq	T	C	10: 107,479,896 (GRCm39)	K1125E	possibly damaging	Het
Rapgef2	T	G	3: 79,000,343 (GRCm39)	T351P	probably damaging	Het
Rbl2	A	G	8: 91,840,617 (GRCm39)	Y923C	probably damaging	Het
Rimbp3	T	C	16: 17,028,727 (GRCm39)	V717A	probably benign	Het
Rims1	C	T	1: 22,358,760 (GRCm39)	W182*	probably null	Het
Rnmt	A	G	18: 68,440,723 (GRCm39)	K129E	probably benign	Het
Ruvbl1	T	C	6: 88,450,108 (GRCm39)	F93S	probably damaging	Het
Scamp5	T	C	9: 57,350,969 (GRCm39)	Y231C	probably damaging	Het
Sfxn5	T	A	6: 85,244,921 (GRCm39)		probably null	Het
Skic2	A	T	17: 35,068,975 (GRCm39)	V8D	probably benign	Het
Slc12a1	T	C	2: 125,028,234 (GRCm39)	F510S	probably damaging	Het
Sowahb	T	C	5: 93,190,922 (GRCm39)	Y599C	probably damaging	Het
Speer4e1	T	C	5: 14,987,111 (GRCm39)	N98S	probably damaging	Het
Stat3	T	C	11: 100,784,807 (GRCm39)	N553S	probably benign	Het
Sult6b2	A	T	6: 142,735,868 (GRCm39)	L242Q	probably damaging	Het
Tacc3	C	T	5: 33,821,169 (GRCm39)	R98W	possibly damaging	Het
Tuba4a	C	T	1: 75,193,595 (GRCm39)	R112H		Het
Ubr3	T	A	2: 69,819,220 (GRCm39)	S1337T	probably damaging	Het
Vmn2r69	A	T	7: 85,055,713 (GRCm39)	C808*	probably null	Het
Wnt16	G	A	6: 22,288,997 (GRCm39)	A105T	probably benign	Het
Zfp692	C	T	11: 58,198,560 (GRCm39)	S50L	probably damaging	Het

Other mutations in Map2k4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00534:Map2k4	APN	11	65,610,305 (GRCm39)	splice site	probably benign
IGL01318:Map2k4	APN	11	65,647,089 (GRCm39)	splice site	probably benign
IGL02500:Map2k4	APN	11	65,587,136 (GRCm39)	missense	probably damaging	1.00
IGL02628:Map2k4	APN	11	65,581,567 (GRCm39)	missense	possibly damaging	0.83
IGL02873:Map2k4	APN	11	65,610,400 (GRCm39)	missense	probably damaging	0.97
IGL03124:Map2k4	APN	11	65,581,617 (GRCm39)	missense	probably damaging	0.98
R0021:Map2k4	UTSW	11	65,603,110 (GRCm39)	missense	probably damaging	1.00
R0021:Map2k4	UTSW	11	65,603,110 (GRCm39)	missense	probably damaging	1.00
R0034:Map2k4	UTSW	11	65,610,437 (GRCm39)	splice site	probably benign
R0034:Map2k4	UTSW	11	65,610,437 (GRCm39)	splice site	probably benign
R0646:Map2k4	UTSW	11	65,603,101 (GRCm39)	missense	probably damaging	1.00
R2073:Map2k4	UTSW	11	65,584,282 (GRCm39)	missense	probably damaging	0.99
R2931:Map2k4	UTSW	11	65,647,163 (GRCm39)	missense	probably damaging	0.99
R3800:Map2k4	UTSW	11	65,581,607 (GRCm39)	nonsense	probably null
R4820:Map2k4	UTSW	11	65,587,201 (GRCm39)	splice site	probably benign
R4913:Map2k4	UTSW	11	65,600,758 (GRCm39)	missense	probably damaging	1.00
R5452:Map2k4	UTSW	11	65,610,413 (GRCm39)	missense	probably damaging	0.97
R5497:Map2k4	UTSW	11	65,626,031 (GRCm39)	missense	probably damaging	1.00
R5812:Map2k4	UTSW	11	65,626,031 (GRCm39)	missense	probably damaging	1.00
R5976:Map2k4	UTSW	11	65,600,778 (GRCm39)	missense	probably benign	0.31
R6282:Map2k4	UTSW	11	65,597,842 (GRCm39)	missense	possibly damaging	0.78
R6505:Map2k4	UTSW	11	65,584,355 (GRCm39)	missense	possibly damaging	0.63
R6784:Map2k4	UTSW	11	65,582,577 (GRCm39)	unclassified	probably benign
R7560:Map2k4	UTSW	11	65,666,583 (GRCm39)	missense	unknown
R9092:Map2k4	UTSW	11	65,581,599 (GRCm39)	missense	probably benign
R9342:Map2k4	UTSW	11	65,581,569 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAGAACTGACAACTTGAGCTGG -3'
(R):5'- AGATGTTAAGAGAAGTGTTTCGGC -3'

Sequencing Primer
(F):5'- CAACTTGAGCTGGGAAATGCTTAG -3'
(R):5'- GCTAAGGCTGGTCTCAAACTCTTAG -3'

Posted On

2020-06-30