Mutagenetix > Incidental Mutation

Incidental Mutation 'R6505:Map2k4'

523767

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

044637-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6505 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65579069-65679123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65584355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 309 (N309K)

Ref Sequence

ENSEMBL: ENSMUSP00000041282 (fasta)

Gene Model

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

AlphaFold

P47809

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046963
AA Change: N309K

PolyPhen 2 Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000041282
Gene: ENSMUSG00000033352
AA Change: N309K

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (84/84)

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
1700010I14Rik	A	T	17: 9,220,772 (GRCm39)	I424L	probably benign	Het
2610028H24Rik	C	T	10: 76,285,115 (GRCm39)	A8V	probably benign	Het
Ago1	G	A	4: 126,357,628 (GRCm39)	P16S	probably benign	Het
Ak5	C	T	3: 152,187,306 (GRCm39)	E394K	probably benign	Het
Aldh7a1	T	C	18: 56,660,068 (GRCm39)	Y498C	probably damaging	Het
Alox12	T	A	11: 70,141,030 (GRCm39)	D335V	probably damaging	Het
Alx4	A	T	2: 93,498,904 (GRCm39)	Y212F	probably damaging	Het
Asb16	A	G	11: 102,167,303 (GRCm39)	E223G	probably damaging	Het
Atg9b	C	T	5: 24,595,575 (GRCm39)	V235M	probably damaging	Het
BB014433	A	G	8: 15,092,304 (GRCm39)	V183A	probably benign	Het
Brca1	T	A	11: 101,414,367 (GRCm39)	M1256L	probably benign	Het
Bst1	A	G	5: 43,977,932 (GRCm39)	I94V	probably benign	Het
C3ar1	A	G	6: 122,827,599 (GRCm39)	L206P	probably benign	Het
Cabs1	T	A	5: 88,128,522 (GRCm39)	M391K	possibly damaging	Het
Cars1	C	T	7: 143,118,744 (GRCm39)	R599Q	probably damaging	Het
Ccdc190	T	A	1: 169,760,592 (GRCm39)	Y73*	probably null	Het
Cd177	A	C	7: 24,443,671 (GRCm39)	L809W	probably benign	Het
Cemip	C	A	7: 83,600,805 (GRCm39)	G939*	probably null	Het
Clca3b	T	A	3: 144,531,020 (GRCm39)	I777F	probably benign	Het
Cma2	T	C	14: 56,211,236 (GRCm39)	I176T	probably damaging	Het
Col12a1	T	A	9: 79,554,887 (GRCm39)	T2064S	probably damaging	Het
Csf1r	A	G	18: 61,262,805 (GRCm39)	N860S	probably damaging	Het
Dab1	T	A	4: 104,369,461 (GRCm39)	C3S	probably benign	Het
Dennd4b	A	G	3: 90,174,918 (GRCm39)	E50G	probably damaging	Het
Dis3l	A	T	9: 64,214,795 (GRCm39)	S925T	probably benign	Het
Disp1	T	C	1: 182,868,076 (GRCm39)	N1448S	probably benign	Het
Dpp10	T	C	1: 123,264,580 (GRCm39)	I747M	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Ephx4	A	T	5: 107,551,522 (GRCm39)	K36*	probably null	Het
Fam135a	C	T	1: 24,053,953 (GRCm39)	V1195I	probably damaging	Het
Fap	A	T	2: 62,376,947 (GRCm39)	Y234*	probably null	Het
Fem1c	A	T	18: 46,638,942 (GRCm39)	N353K	possibly damaging	Het
Furin	C	A	7: 80,043,365 (GRCm39)	R282L	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm5930	A	G	14: 44,568,828 (GRCm39)	*265Q	probably null	Het
Hcrtr1	T	A	4: 130,031,379 (GRCm39)	T15S	probably benign	Het
Ifnar1	C	T	16: 91,296,425 (GRCm39)	Q309*	probably null	Het
Il18r1	A	T	1: 40,528,867 (GRCm39)	I304L	probably benign	Het
Ino80	A	T	2: 119,281,922 (GRCm39)	Y185N	probably damaging	Het
Itgb2	G	A	10: 77,395,507 (GRCm39)	C536Y	probably damaging	Het
Ivns1abp	T	C	1: 151,236,744 (GRCm39)	M435T	probably benign	Het
Kcnh4	T	C	11: 100,647,911 (GRCm39)	N151D	probably benign	Het
Lama3	T	C	18: 12,628,405 (GRCm39)	M1499T	probably benign	Het
Lamb1	A	T	12: 31,373,461 (GRCm39)	T1397S	possibly damaging	Het
Leng1	G	A	7: 3,664,211 (GRCm39)	R239*	probably null	Het
Mcm3	A	G	1: 20,873,768 (GRCm39)	F784S	probably damaging	Het
Mrgpra9	T	A	7: 46,884,884 (GRCm39)	N260I	probably benign	Het
Mrnip	C	A	11: 50,090,679 (GRCm39)	T281N	possibly damaging	Het
Myo9b	A	G	8: 71,808,501 (GRCm39)	T1715A	possibly damaging	Het
Nectin3	A	G	16: 46,269,184 (GRCm39)	I406T	possibly damaging	Het
Neto1	A	G	18: 86,516,699 (GRCm39)	T339A	possibly damaging	Het
Ntn1	T	C	11: 68,104,025 (GRCm39)	D541G	probably damaging	Het
Nuak2	C	A	1: 132,244,132 (GRCm39)	H55Q	probably damaging	Het
Nufip2	A	G	11: 77,582,439 (GRCm39)	T118A	probably benign	Het
Or11i1	T	G	3: 106,729,638 (GRCm39)	N79T	possibly damaging	Het
Or12e7	T	A	2: 87,288,271 (GRCm39)	V254E	probably damaging	Het
Or51af1	T	A	7: 103,141,858 (GRCm39)	T76S	probably damaging	Het
Or52e19	C	A	7: 102,959,000 (GRCm39)	A24D	probably benign	Het
Or5d16	A	T	2: 87,773,518 (GRCm39)	Y151*	probably null	Het
Or5p59	T	C	7: 107,702,774 (GRCm39)	V86A	probably benign	Het
Or6d13	C	T	6: 116,517,561 (GRCm39)	T49M	probably benign	Het
Or7a40	A	T	16: 16,491,784 (GRCm39)	D20E	probably benign	Het
Or7g29	T	C	9: 19,286,237 (GRCm39)	*313W	probably null	Het
Pcdhb5	T	A	18: 37,453,933 (GRCm39)	H104Q	probably benign	Het
Phf11a	T	C	14: 59,514,986 (GRCm39)	R232G	probably damaging	Het
Pik3r5	C	T	11: 68,383,615 (GRCm39)	T478I	probably benign	Het
Prkacb	T	A	3: 146,438,401 (GRCm39)	E380V	probably damaging	Het
Prl7c1	G	T	13: 27,957,776 (GRCm39)	D221E	probably damaging	Het
Prr11	T	A	11: 86,996,950 (GRCm39)	K5*	probably null	Het
Prrc2b	G	A	2: 32,112,332 (GRCm39)	G1932D	probably damaging	Het
Rexo1	A	T	10: 80,378,845 (GRCm39)	Y1064N	possibly damaging	Het
Rnf182	C	T	13: 43,822,147 (GRCm39)	Q233*	probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Sash1	C	G	10: 8,605,291 (GRCm39)	G1033A	probably benign	Het
Sncaip	C	A	18: 53,039,609 (GRCm39)	S189*	probably null	Het
Sorl1	T	C	9: 41,982,530 (GRCm39)	Y350C	probably damaging	Het
Speg	T	C	1: 75,383,328 (GRCm39)	V1141A	possibly damaging	Het
Speg	C	A	1: 75,406,167 (GRCm39)	D3091E	possibly damaging	Het
Sucnr1	A	T	3: 59,994,144 (GRCm39)	D224V	probably benign	Het
Tg	G	A	15: 66,631,407 (GRCm39)	A559T	probably damaging	Het
Tmem132d	A	G	5: 127,861,502 (GRCm39)	I873T	probably benign	Het
Tmem229a	C	T	6: 24,954,920 (GRCm39)	C278Y	probably damaging	Het
Togaram1	T	C	12: 65,013,364 (GRCm39)	I205T	possibly damaging	Het
Usp19	T	A	9: 108,374,082 (GRCm39)	L713Q	probably damaging	Het
Vsig10	A	G	5: 117,489,824 (GRCm39)	D530G	possibly damaging	Het
Zfp106	A	G	2: 120,364,983 (GRCm39)	S475P	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
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'- CCTTGGCTCTGTAAAGCGTC -3'
(R):5'- GTCGAGGCACATTTCATGATCTAC -3'

Sequencing Primer
(F):5'- GCTCTGTAAAGCGTCTATGTAATTG -3'
(R):5'- GAGGCACATTTCATGATCTACTCCTC -3'

Posted On

2018-06-22