Mutagenetix > Incidental Mutation

Incidental Mutation 'R0366:Map2k1'

98839

Institutional Source

Beutler Lab

Gene Symbol

Map2k1

Ensembl Gene

ENSMUSG00000004936

Gene Name

mitogen-activated protein kinase kinase 1

Synonyms

Mek1, Prkmk1, MAP kinase kinase 1

MMRRC Submission

038572-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64093066-64160887 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 64100984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000005066 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005066]

AlphaFold

P31938

Predicted Effect

probably null
Transcript: ENSMUST00000005066

SMART Domains

Protein: ENSMUSP00000005066
Gene: ENSMUSG00000004936

Domain	Start	End	E-Value	Type
low complexity region	30	51	N/A	INTRINSIC
S_TKc	68	361	4.44e-80	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152535

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to reduced embryo size and midgestational lethality due to impaired development and hypovascularization of the placenta with decreased labyrinth cell proliferation and enhanced cell apoptosis. Mutant MEFs fail to exhibit fibronectin-induced migration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	T	17: 46,635,724 (GRCm39)	S93*	probably null	Het
Ackr2	T	C	9: 121,738,426 (GRCm39)	L267P	probably damaging	Het
Adgre4	T	A	17: 56,099,001 (GRCm39)	L169*	probably null	Het
Ankrd12	T	A	17: 66,291,501 (GRCm39)	S1311C	possibly damaging	Het
Arid2	T	A	15: 96,259,601 (GRCm39)		probably benign	Het
Atp9b	A	T	18: 80,805,317 (GRCm39)	V747E	probably damaging	Het
Best1	T	C	19: 9,969,417 (GRCm39)		probably null	Het
Brwd1	C	A	16: 95,839,164 (GRCm39)	E836*	probably null	Het
Cachd1	A	G	4: 100,851,934 (GRCm39)	S1177G	possibly damaging	Het
Cacna1e	C	T	1: 154,291,884 (GRCm39)	E1766K	probably benign	Het
Cckar	A	G	5: 53,857,507 (GRCm39)	I301T	probably benign	Het
Cdc27	T	G	11: 104,396,474 (GRCm39)	T816P	probably damaging	Het
Cep162	T	G	9: 87,102,537 (GRCm39)	Q708H	probably damaging	Het
Cep250	C	A	2: 155,830,321 (GRCm39)	D1301E	probably benign	Het
D430041D05Rik	G	A	2: 104,085,685 (GRCm39)	H955Y	probably damaging	Het
Dcdc2a	T	A	13: 25,240,417 (GRCm39)	V55E	probably damaging	Het
Efcab12	A	G	6: 115,800,209 (GRCm39)		probably benign	Het
Ep400	A	G	5: 110,849,537 (GRCm39)	V1428A	unknown	Het
Erbb3	T	C	10: 128,408,439 (GRCm39)	E825G	possibly damaging	Het
Evl	A	T	12: 108,652,307 (GRCm39)		probably null	Het
Fuca2	G	A	10: 13,381,507 (GRCm39)	R140H	probably benign	Het
Gm5581	T	C	6: 131,143,410 (GRCm39)		noncoding transcript	Het
Gm7052	T	C	17: 22,259,498 (GRCm39)		probably benign	Het
Gpd1	T	G	15: 99,617,151 (GRCm39)	I119S	probably damaging	Het
Gzmc	A	T	14: 56,470,193 (GRCm39)	Y101*	probably null	Het
Hmcn2	G	T	2: 31,314,218 (GRCm39)	A3588S	possibly damaging	Het
Ikbkb	A	G	8: 23,185,276 (GRCm39)		probably benign	Het
Itgax	G	T	7: 127,748,261 (GRCm39)		probably benign	Het
Kif24	C	A	4: 41,428,717 (GRCm39)	S81I	possibly damaging	Het
Lct	G	A	1: 128,214,199 (GRCm39)	P1858S	probably benign	Het
Mdga1	A	G	17: 30,076,682 (GRCm39)	V30A	possibly damaging	Het
Meiosin	T	A	7: 18,840,964 (GRCm39)	I57F	probably damaging	Het
Mtcl1	G	A	17: 66,645,124 (GRCm39)	P1441L	probably damaging	Het
N4bp2	T	A	5: 65,963,739 (GRCm39)	F596Y	possibly damaging	Het
Notch4	A	T	17: 34,800,473 (GRCm39)		probably benign	Het
Or2l5	A	G	16: 19,333,598 (GRCm39)	S263P	probably benign	Het
Or4c12	A	C	2: 89,774,162 (GRCm39)	V99G	possibly damaging	Het
Or6c1	A	G	10: 129,517,840 (GRCm39)	M256T	possibly damaging	Het
Or8b44	T	A	9: 38,410,450 (GRCm39)	C162S	possibly damaging	Het
Or8k25	A	G	2: 86,244,369 (GRCm39)	V9A	possibly damaging	Het
Pbld2	A	G	10: 62,889,736 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,808,460 (GRCm39)	Y505C	probably damaging	Het
Plcb2	A	G	2: 118,554,928 (GRCm39)	F58L	probably benign	Het
Plcd1	T	A	9: 118,910,204 (GRCm39)	I72F	probably damaging	Het
Ppp5c	A	T	7: 16,756,508 (GRCm39)	Y63*	probably null	Het
Prdm4	T	C	10: 85,743,868 (GRCm39)	D129G	probably damaging	Het
Prkcq	C	A	2: 11,251,649 (GRCm39)		probably benign	Het
Rab5b	C	T	10: 128,518,772 (GRCm39)	R120Q	probably benign	Het
Rab7b	T	A	1: 131,626,242 (GRCm39)	V90D	probably damaging	Het
Ripk3	T	C	14: 56,024,292 (GRCm39)	T193A	probably damaging	Het
Rnf167	C	T	11: 70,540,143 (GRCm39)	R88*	probably null	Het
Robo1	A	G	16: 72,539,133 (GRCm39)	T59A	possibly damaging	Het
Scd2	G	A	19: 44,289,685 (GRCm39)	V227I	probably benign	Het
Scg3	T	A	9: 75,582,620 (GRCm39)		probably benign	Het
Sec31a	A	T	5: 100,530,625 (GRCm39)	L677H	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Setd7	T	C	3: 51,457,741 (GRCm39)	T29A	probably benign	Het
Shoc1	A	C	4: 59,099,410 (GRCm39)	M94R	probably benign	Het
Slc4a5	A	G	6: 83,272,854 (GRCm39)	Y942C	probably benign	Het
Slit1	T	A	19: 41,599,470 (GRCm39)	Y1027F	probably damaging	Het
Sptan1	G	A	2: 29,882,764 (GRCm39)		probably null	Het
Tdrd12	T	C	7: 35,208,227 (GRCm39)	Q249R	probably benign	Het
Tmem171	T	A	13: 98,828,736 (GRCm39)	D138V	possibly damaging	Het
Ttll10	G	A	4: 156,119,612 (GRCm39)	R596W	probably damaging	Het
Usp53	G	T	3: 122,742,850 (GRCm39)	N695K	probably damaging	Het
Vmn2r25	A	T	6: 123,800,581 (GRCm39)	L587*	probably null	Het
Zglp1	C	T	9: 20,974,675 (GRCm39)	C171Y	probably benign	Het

Other mutations in Map2k1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02195:Map2k1	APN	9	64,101,090 (GRCm39)	missense	probably benign	0.39
mystic_falls	UTSW	9	64,098,548 (GRCm39)	critical splice donor site	probably null
R4285:Map2k1	UTSW	9	64,119,925 (GRCm39)	missense	probably damaging	0.99
R5254:Map2k1	UTSW	9	64,095,027 (GRCm39)	unclassified	probably benign
R5261:Map2k1	UTSW	9	64,098,843 (GRCm39)	missense	probably damaging	1.00
R5741:Map2k1	UTSW	9	64,121,883 (GRCm39)	missense	possibly damaging	0.89
R5742:Map2k1	UTSW	9	64,101,053 (GRCm39)	missense	probably damaging	0.99
R5865:Map2k1	UTSW	9	64,098,548 (GRCm39)	critical splice donor site	probably null
R6212:Map2k1	UTSW	9	64,112,445 (GRCm39)	missense	probably damaging	1.00
R6299:Map2k1	UTSW	9	64,121,772 (GRCm39)	missense	possibly damaging	0.52
R6460:Map2k1	UTSW	9	64,094,577 (GRCm39)	missense	probably damaging	0.97
R6843:Map2k1	UTSW	9	64,094,973 (GRCm39)	missense	probably damaging	0.99
R7028:Map2k1	UTSW	9	64,101,105 (GRCm39)	missense	probably benign	0.36
R7115:Map2k1	UTSW	9	64,119,888 (GRCm39)	missense	probably damaging	0.99
R8885:Map2k1	UTSW	9	64,094,606 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-10