Mutagenetix > Incidental Mutation

Incidental Mutation 'R2073:Map2k4'

227349

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

040078-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2073 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65579069-65679123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 65584282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 334 (F334V)

Ref Sequence

ENSEMBL: ENSMUSP00000041282 (fasta)

Gene Model

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

AlphaFold

P47809

Predicted Effect

probably damaging
Transcript: ENSMUST00000046963
AA Change: F334V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041282
Gene: ENSMUSG00000033352
AA Change: F334V

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 benign
Transcript: ENSMUST00000125598

SMART Domains

Protein: ENSMUSP00000137656
Gene: ENSMUSG00000033352

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140740

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	C	7: 130,959,242 (GRCm39)	R153G	probably benign	Het
5730596B20Rik	C	A	6: 52,155,962 (GRCm39)	Y9*	probably null	Het
Aco1	G	A	4: 40,183,605 (GRCm39)	G508S	probably damaging	Het
Acot3	A	G	12: 84,100,230 (GRCm39)	H2R	possibly damaging	Het
Adamts13	T	A	2: 26,896,326 (GRCm39)	C1240S	probably damaging	Het
Adra1b	T	C	11: 43,726,698 (GRCm39)	N73S	probably damaging	Het
Aebp2	G	A	6: 140,579,420 (GRCm39)	S219N	probably benign	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Ank	T	C	15: 27,565,108 (GRCm39)	S270P	probably benign	Het
Ankle1	G	A	8: 71,861,973 (GRCm39)	R492H	possibly damaging	Het
Ankub1	G	A	3: 57,599,713 (GRCm39)	H19Y	possibly damaging	Het
Anln	C	A	9: 22,244,464 (GRCm39)	W1083L	probably benign	Het
Apaf1	G	T	10: 90,867,556 (GRCm39)	S763*	probably null	Het
Apba3	A	G	10: 81,105,128 (GRCm39)	T134A	probably benign	Het
Armh3	A	T	19: 45,953,820 (GRCm39)	I188K	probably damaging	Het
Bod1l	C	T	5: 41,976,532 (GRCm39)	S1594N	probably benign	Het
C7	T	C	15: 5,019,910 (GRCm39)	M746V	probably benign	Het
Cdkn2a	T	A	4: 89,212,730 (GRCm39)	I11F	possibly damaging	Het
Cideb	T	C	14: 55,992,617 (GRCm39)	M100V	possibly damaging	Het
Cntnap5c	T	C	17: 58,612,547 (GRCm39)	L862P	possibly damaging	Het
Coch	A	T	12: 51,649,472 (GRCm39)	D261V	probably benign	Het
Cyp2ab1	A	G	16: 20,132,639 (GRCm39)	F220L	possibly damaging	Het
Ddx10	A	T	9: 53,151,805 (GRCm39)	D73E	probably benign	Het
Dgkg	A	G	16: 22,384,067 (GRCm39)	F462S	probably damaging	Het
Dlgap3	C	T	4: 127,089,159 (GRCm39)	H252Y	probably damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dnaaf6rt	A	G	1: 31,262,077 (GRCm39)	S20G	probably benign	Het
Dnai4	G	A	4: 102,907,390 (GRCm39)	T632M	probably damaging	Het
Dtnb	A	G	12: 3,831,273 (GRCm39)	T658A	probably benign	Het
Duox2	T	A	2: 122,125,639 (GRCm39)	S323C	probably damaging	Het
Dync1h1	T	A	12: 110,581,026 (GRCm39)	I251N	probably damaging	Het
Eml5	A	G	12: 98,768,705 (GRCm39)	S1457P	probably damaging	Het
Fam114a1	T	A	5: 65,153,247 (GRCm39)		probably null	Het
Fcho1	A	T	8: 72,163,133 (GRCm39)	L632Q	probably damaging	Het
Gm12695	T	C	4: 96,612,182 (GRCm39)	Y527C	possibly damaging	Het
Gm16223	T	C	5: 42,371,942 (GRCm39)	C111R	unknown	Het
H2-Q4	T	A	17: 35,599,378 (GRCm39)	S154T	possibly damaging	Het
Hhat	A	G	1: 192,409,687 (GRCm39)	F125L	possibly damaging	Het
Ier5l	T	A	2: 30,363,068 (GRCm39)	D319V	probably damaging	Het
Kif5a	T	C	10: 127,081,238 (GRCm39)	D232G	probably damaging	Het
M1ap	A	G	6: 82,958,863 (GRCm39)	I165V	probably benign	Het
Mmp19	G	A	10: 128,630,848 (GRCm39)	R156H	probably damaging	Het
Mpped2	T	A	2: 106,575,147 (GRCm39)	Y77*	probably null	Het
Nhs	T	A	X: 160,625,717 (GRCm39)	H544L	probably damaging	Het
Nr4a1	C	A	15: 101,171,948 (GRCm39)	H541N	probably damaging	Het
Or4a74	A	G	2: 89,439,822 (GRCm39)	V208A	probably benign	Het
Or5b122	A	T	19: 13,562,965 (GRCm39)	Q99L	probably damaging	Het
Pak6	A	C	2: 118,519,332 (GRCm39)	N17T	probably damaging	Het
Pcnt	T	A	10: 76,216,214 (GRCm39)	T2225S	possibly damaging	Het
Pdzd2	A	G	15: 12,385,905 (GRCm39)	L955P	probably damaging	Het
Phf21a	A	G	2: 92,178,381 (GRCm39)	D357G	probably damaging	Het
Pkhd1l1	G	T	15: 44,422,035 (GRCm39)	A3102S	probably damaging	Het
Plch2	A	T	4: 155,074,366 (GRCm39)	L754Q	probably damaging	Het
Plekhd1	A	G	12: 80,768,066 (GRCm39)	N335D	probably benign	Het
Pole	C	A	5: 110,473,417 (GRCm39)	T1737N	probably damaging	Het
Potefam1	T	C	2: 111,030,763 (GRCm39)	E382G	probably damaging	Het
Pramel6	G	A	2: 87,339,088 (GRCm39)	S96N	probably damaging	Het
Prdm14	A	C	1: 13,195,954 (GRCm39)	Y36D	possibly damaging	Het
Psg27	T	C	7: 18,294,342 (GRCm39)	D355G	probably damaging	Het
Rfc1	A	T	5: 65,459,282 (GRCm39)	D225E	probably damaging	Het
Sec16a	A	G	2: 26,330,251 (GRCm39)	I588T	probably damaging	Het
Setd6	G	A	8: 96,443,416 (GRCm39)	V60M	probably damaging	Het
Sgk3	A	G	1: 9,961,649 (GRCm39)	I432V	probably benign	Het
Six2	A	G	17: 85,994,933 (GRCm39)	S150P	probably damaging	Het
Slc1a6	T	C	10: 78,635,964 (GRCm39)	V343A	possibly damaging	Het
Slc43a3	T	C	2: 84,774,956 (GRCm39)		probably null	Het
Smc3	A	G	19: 53,619,964 (GRCm39)	D620G	probably benign	Het
Smg6	C	G	11: 74,821,120 (GRCm39)	P464A	probably damaging	Het
Sox11	T	C	12: 27,392,278 (GRCm39)	T44A	possibly damaging	Het
Spata22	A	G	11: 73,227,052 (GRCm39)	R89G	possibly damaging	Het
Spmip6	A	G	4: 41,507,519 (GRCm39)		probably null	Het
Stk3	T	C	15: 34,959,195 (GRCm39)	M256V	possibly damaging	Het
Syne2	A	G	12: 76,062,353 (GRCm39)	D4226G	possibly damaging	Het
Tecpr2	T	C	12: 110,934,863 (GRCm39)	S1370P	possibly damaging	Het
Tek	A	G	4: 94,715,966 (GRCm39)	I463V	probably benign	Het
Trib1	T	A	15: 59,526,189 (GRCm39)	I253N	probably damaging	Het
Triobp	G	T	15: 78,858,095 (GRCm39)	G1232V	probably damaging	Het
Trpm6	G	A	19: 18,853,406 (GRCm39)	V1809M	probably damaging	Het
Tsc22d4	A	G	5: 137,760,749 (GRCm39)	K57E	possibly damaging	Het
Vmn2r109	T	A	17: 20,784,974 (GRCm39)	K15N	probably benign	Het
Wnt9a	A	G	11: 59,222,055 (GRCm39)	N318D	probably damaging	Het
Wwp1	A	G	4: 19,662,181 (GRCm39)	V138A	possibly damaging	Het
Zfp37	A	T	4: 62,109,945 (GRCm39)	M411K	probably damaging	Het
Zfp715	T	A	7: 42,960,544 (GRCm39)	T16S	probably benign	Het
Zfp932	A	G	5: 110,157,684 (GRCm39)	T461A	possibly damaging	Het
Zscan29	A	T	2: 120,991,336 (GRCm39)	C817*	probably null	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
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
R8071:Map2k4	UTSW	11	65,597,827 (GRCm39)	missense
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'- TGCCTCTCCAAGCTGACTAG -3'
(R):5'- GCTGGATCTTTGTATTGACATCAG -3'

Sequencing Primer
(F):5'- TCTCCAAGCTGACTAGAACTTC -3'
(R):5'- GGATCTTTGTATTGACATCAGTCTTC -3'

Posted On

2014-09-17