Mutagenetix > Incidental Mutation

Incidental Mutation 'R5976:Map2k4'

471783

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

044158-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5976 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65579069-65679123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65600778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 51 (N51I)

Ref Sequence

ENSEMBL: ENSMUSP00000137656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046963] [ENSMUST00000125598] [ENSMUST00000130009] [ENSMUST00000140301] [ENSMUST00000152096]

AlphaFold

P47809

Predicted Effect

probably benign
Transcript: ENSMUST00000046963
AA Change: N220I

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000041282
Gene: ENSMUSG00000033352
AA Change: N220I

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
AA Change: N51I

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000137656
Gene: ENSMUSG00000033352
AA Change: N51I

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: ENSMUST00000130009

SMART Domains

Protein: ENSMUSP00000137819
Gene: ENSMUSG00000033352

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

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

probably benign
Transcript: ENSMUST00000152096

SMART Domains

Protein: ENSMUSP00000114219
Gene: ENSMUSG00000033352

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
Pfam:Pkinase_Tyr	111	202	2.5e-9	PFAM
Pfam:Pkinase	111	204	1e-13	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankar	T	C	1: 72,682,450 (GRCm39)	T1154A	probably benign	Het
Ankrd26	A	T	6: 118,494,855 (GRCm39)		probably null	Het
Arih2	A	T	9: 108,485,172 (GRCm39)	*54R	probably null	Het
AW146154	T	G	7: 41,129,721 (GRCm39)	K465T	probably damaging	Het
Bend3	A	G	10: 43,386,540 (GRCm39)	Y311C	probably benign	Het
Bltp2	G	A	11: 78,174,955 (GRCm39)	A1697T	probably benign	Het
Ccdc110	A	T	8: 46,396,536 (GRCm39)	Y809F	possibly damaging	Het
Ccnh	C	T	13: 85,338,982 (GRCm39)	P76L	probably damaging	Het
Chaf1a	T	A	17: 56,371,115 (GRCm39)	C667S	probably damaging	Het
Clca3a1	A	T	3: 144,452,636 (GRCm39)	Y616N	probably damaging	Het
Cldn4	A	G	5: 134,975,410 (GRCm39)	C64R	probably damaging	Het
Crybg2	TGGAGGAGGAGGAGGAGGAG	TGGAGGAGGAGGAGGAG	4: 133,801,837 (GRCm39)		probably benign	Het
Dclk2	C	A	3: 86,694,532 (GRCm39)	R752L	possibly damaging	Het
Dzank1	C	A	2: 144,343,409 (GRCm39)	G318W	probably damaging	Het
Edem1	T	A	6: 108,819,923 (GRCm39)	I236K	probably damaging	Het
Eif4e1b	T	C	13: 54,932,635 (GRCm39)	F75L	probably damaging	Het
Elmo3	A	G	8: 106,034,279 (GRCm39)	Y266C	probably damaging	Het
Enpep	A	G	3: 129,092,773 (GRCm39)	S509P	probably damaging	Het
Exoc8	A	G	8: 125,623,392 (GRCm39)	M325T	probably benign	Het
Fah	A	G	7: 84,243,949 (GRCm39)	M270T	probably benign	Het
Gabbr1	T	C	17: 37,378,754 (GRCm39)	L532P	probably damaging	Het
Gm10770	T	A	2: 150,021,320 (GRCm39)	K66*	probably null	Het
Gprc5c	A	T	11: 114,755,313 (GRCm39)	Q330L	possibly damaging	Het
Grin3a	T	A	4: 49,792,602 (GRCm39)	H377L	probably damaging	Het
Hipk3	T	C	2: 104,301,529 (GRCm39)	E221G	probably damaging	Het
Hsd17b6	T	A	10: 127,827,308 (GRCm39)	M255L	probably benign	Het
Ighv1-7	T	A	12: 114,502,379 (GRCm39)	E29D	probably benign	Het
Ing3	T	A	6: 21,971,173 (GRCm39)	S326T	probably benign	Het
Ipo7	T	C	7: 109,648,014 (GRCm39)	L632P	probably damaging	Het
Kdm6b	A	G	11: 69,294,614 (GRCm39)		probably null	Het
Kif21a	T	G	15: 90,820,015 (GRCm39)	D1583A	probably damaging	Het
Lama2	C	T	10: 27,066,672 (GRCm39)	V1070I	probably benign	Het
Lrp1	A	T	10: 127,419,770 (GRCm39)	S946R	probably damaging	Het
Lrrc37a	A	G	11: 103,389,897 (GRCm39)	S1843P	possibly damaging	Het
Ltbp1	T	C	17: 75,597,078 (GRCm39)	Y517H	probably damaging	Het
Mfsd2b	G	T	12: 4,916,522 (GRCm39)	A216D	probably damaging	Het
Nbea	T	C	3: 55,761,268 (GRCm39)	T2025A	probably benign	Het
Neb	A	G	2: 52,106,928 (GRCm39)	V4162A	possibly damaging	Het
Nr3c1	A	T	18: 39,554,602 (GRCm39)	F599I	probably damaging	Het
Nsun2	T	G	13: 69,771,271 (GRCm39)		probably null	Het
Or10ab4	T	A	7: 107,655,005 (GRCm39)	M272K	possibly damaging	Het
Or8b37	G	T	9: 37,958,997 (GRCm39)	V160F	possibly damaging	Het
Otoa	T	A	7: 120,726,936 (GRCm39)	W524R	probably benign	Het
Paip1	T	A	13: 119,593,533 (GRCm39)	D182E	probably damaging	Het
Pde1a	G	A	2: 79,698,586 (GRCm39)	Q415*	probably null	Het
Pfkfb2	T	A	1: 130,635,816 (GRCm39)	K72*	probably null	Het
Pigg	A	G	5: 108,480,057 (GRCm39)	E444G	probably null	Het
Plec	T	C	15: 76,073,237 (GRCm39)	Y669C	probably damaging	Het
Ptp4a3	T	C	15: 73,627,885 (GRCm39)	V94A	possibly damaging	Het
Ptprg	A	G	14: 12,211,625 (GRCm38)	E969G	probably damaging	Het
R3hcc1l	T	A	19: 42,551,789 (GRCm39)	V262E	probably benign	Het
Ranbp3l	T	G	15: 9,030,916 (GRCm39)	F65C	possibly damaging	Het
Rbm19	T	A	5: 120,278,372 (GRCm39)	S718R	probably benign	Het
Recql4	C	A	15: 76,593,624 (GRCm39)	R162L	probably benign	Het
Rest	T	C	5: 77,416,119 (GRCm39)	L111P	probably benign	Het
Rgma	T	C	7: 73,059,216 (GRCm39)	S13P	probably damaging	Het
Rogdi	T	A	16: 4,831,175 (GRCm39)	I31F	probably benign	Het
Serpinb9e	T	A	13: 33,439,112 (GRCm39)	D179E	probably benign	Het
Slc1a5	T	C	7: 16,529,807 (GRCm39)	C409R	probably damaging	Het
Slc25a38	A	G	9: 119,945,613 (GRCm39)	T38A	probably damaging	Het
Spag17	C	T	3: 100,003,107 (GRCm39)	Q1897*	probably null	Het
St7	C	A	6: 17,694,221 (GRCm39)	A4E	possibly damaging	Het
Tbcel	T	A	9: 42,350,499 (GRCm39)	I263F	possibly damaging	Het
Tmtc3	A	G	10: 100,312,534 (GRCm39)	V103A	probably benign	Het
Tnc	G	A	4: 63,936,403 (GRCm39)	P178S	probably benign	Het
Vwf	A	G	6: 125,580,426 (GRCm39)	D558G		Het
Zfp541	A	G	7: 15,810,344 (GRCm39)	K127R	probably benign	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
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'- AAGGAGTCTAAGCATAACACCG -3'
(R):5'- GGCAGCTTGTCAGATGTAAAATTG -3'

Sequencing Primer
(F):5'- GCATAACACCGCCCCCTTTC -3'
(R):5'- CATACAGAGAGCTTTGAAGG -3'

Posted On

2017-03-31