Mutagenetix > Incidental Mutation

Incidental Mutation 'RF013:Mapk6'

603343

Institutional Source

Beutler Lab

Gene Symbol

Mapk6

Ensembl Gene

ENSMUSG00000042688

Gene Name

mitogen-activated protein kinase 6

Synonyms

Prkm6, 2610021I23Rik, Prkm4, Erk3, D130053K17Rik, Mapk4, Mapk63, ERK3

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.550) question?

Stock #

RF013 (G1)

Quality Score

186.468

Status

Not validated

Chromosome

Chromosomal Location

75294064-75317303 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CCAC to CCACCTCAC at 75295542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000040315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049355] [ENSMUST00000168937]

AlphaFold

Q61532

Predicted Effect

probably null
Transcript: ENSMUST00000049355

SMART Domains

Protein: ENSMUSP00000040315
Gene: ENSMUSG00000042688

Domain	Start	End	E-Value	Type
S_TKc	20	316	8.02e-87	SMART
low complexity region	647	670	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000168937

SMART Domains

Protein: ENSMUSP00000129024
Gene: ENSMUSG00000042688

Domain	Start	End	E-Value	Type
S_TKc	20	316	8.02e-87	SMART
low complexity region	647	670	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

Validation Efficiency

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 Ser/Thr protein kinase family, and is most closely related to mitogen-activated protein kinases (MAP kinases). MAP kinases also known as extracellular signal-regulated kinases (ERKs), are activated through protein phosphorylation cascades and act as integration points for multiple biochemical signals. This kinase is localized in the nucleus, and has been reported to be activated in fibroblasts upon treatment with serum or phorbol esters. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice show limited fetal growth, reduced serum IGF2 levels, pulmonary hypoplasia and early neonatal death. About 40% of newborns die of acute respiratory failure exhibiting delayed lung maturation, reduced sacculation, atelectasis, and impaired type II pneumocyte differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,989,553 (GRCm39)		probably benign	Het
Adamts9	A	G	6: 92,920,126 (GRCm39)	V4A	possibly damaging	Het
AI837181	GGC	GGCTGC	19: 5,475,260 (GRCm39)		probably benign	Het
Alk	A	G	17: 72,202,931 (GRCm39)	Y1135H	probably damaging	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,693,979 (GRCm39)		probably benign	Het
Ano3	A	C	2: 110,527,381 (GRCm39)	L609R	probably benign	Het
Bicc1	A	G	10: 70,771,660 (GRCm39)		probably null	Het
Bltp1	TTAT	TTATTATTATTATTAGTAT	3: 37,104,906 (GRCm39)		probably benign	Het
Card6	T	C	15: 5,129,624 (GRCm39)	I591V	probably benign	Het
Ccdc121rt2	T	A	5: 112,597,937 (GRCm39)	N161K	probably benign	Het
Ccdc18	A	G	5: 108,368,582 (GRCm39)	N1235D	probably benign	Het
Cd109	TTAT	TTATTTATTTATCTAT	9: 78,619,813 (GRCm39)		probably benign	Het
Cnpy3	CCT	CCTGCT	17: 47,047,670 (GRCm39)		probably benign	Het
Col6a5	GCAGTC	GCAGTCTCCAGTC	9: 105,755,796 (GRCm39)		probably null	Het
Cyb5r4	GACACACTGCCCAGGGA	GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA	9: 86,922,485 (GRCm39)		probably benign	Het
Cyp8b1	A	T	9: 121,744,561 (GRCm39)	M257K	possibly damaging	Het
Dbf4	A	T	5: 8,447,985 (GRCm39)	H408Q	possibly damaging	Het
Defb22	TTGCGGCA	TTGCGGCAGAGCTGGCCTGTGCGGCA	2: 152,327,751 (GRCm39)		probably benign	Het
Ercc6l2	A	T	13: 64,000,831 (GRCm39)	T417S	probably benign	Het
Exd2	AGCCACAG	A	12: 80,522,706 (GRCm39)		probably null	Het
Fam171b	GC	GCAGCATC	2: 83,643,239 (GRCm39)		probably benign	Het
Flvcr2	T	A	12: 85,793,960 (GRCm39)	L112Q	probably damaging	Het
Flywch1	GTG	GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG	17: 23,981,149 (GRCm39)		probably null	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 71,314,022 (GRCm39)		probably benign	Het
Garin5a	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA	7: 44,149,944 (GRCm39)		probably null	Het
Gm4884	C	A	7: 40,690,233 (GRCm39)	P43Q	probably damaging	Het
Grm8	A	G	6: 27,363,779 (GRCm39)	W579R	probably damaging	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCCG	4: 59,610,657 (GRCm39)		probably benign	Het
Ivl	CTGCTGCTGCTGCTGT	C	3: 92,479,650 (GRCm39)		probably benign	Het
Kif18b	T	C	11: 102,803,192 (GRCm39)	D506G	probably benign	Het
Krtap28-10	AGCCAC	AGCCACGGCCAC	1: 83,019,856 (GRCm39)		probably benign	Het
Krtap28-10	GCCACAGCCACCACA	GCCACAGCCACCACATCCACAGCCACCACA	1: 83,019,995 (GRCm39)		probably benign	Het
Lama1	C	A	17: 68,088,057 (GRCm39)	S1558R		Het
Lcmt1	C	CCGCGGGGCTT	7: 122,969,059 (GRCm39)		probably null	Het
Lmna	A	G	3: 88,391,361 (GRCm39)	V494A	probably benign	Het
Mboat7	T	A	7: 3,694,856 (GRCm39)	H52L	probably damaging	Het
Med12l	CAG	CAGAAG	3: 59,183,387 (GRCm39)		probably benign	Het
Morc2a	T	A	11: 3,626,191 (GRCm39)	M225K	probably benign	Het
Mpdz	G	A	4: 81,211,829 (GRCm39)	A1566V	possibly damaging	Het
Mpi	T	C	9: 57,455,924 (GRCm39)	D186G	probably benign	Het
Mtmr12	C	A	15: 12,261,984 (GRCm39)	N386K	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 66,977,182 (GRCm39)		probably null	Het
Myo10	T	A	15: 25,799,565 (GRCm39)	M1376K	probably damaging	Het
Nbas	C	T	12: 13,329,409 (GRCm39)	T118I	possibly damaging	Het
Nedd4l	C	T	18: 65,342,751 (GRCm39)	R755C	probably damaging	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,891,032 (GRCm39)		probably benign	Het
Numa1	T	C	7: 101,648,987 (GRCm39)	L906P	probably damaging	Het
Or6s1	G	A	14: 51,308,469 (GRCm39)	A127V	probably damaging	Het
Or7h8	T	C	9: 20,124,190 (GRCm39)	S182P	probably benign	Het
Otop2	G	T	11: 115,214,492 (GRCm39)	R83L	probably benign	Het
Pmm1	T	A	15: 81,842,014 (GRCm39)	Q62L	probably damaging	Het
Pramel16	C	G	4: 143,675,478 (GRCm39)	Q449H	probably damaging	Het
Ptprj	A	T	2: 90,301,514 (GRCm39)	L206*	probably null	Het
Rassf6	TC	TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC	5: 90,756,800 (GRCm39)		probably benign	Het
Rps19	A	AGAAAAT	7: 24,588,605 (GRCm39)		probably benign	Het
Rsrp1	T	A	4: 134,651,266 (GRCm39)	V10E	unknown	Het
Sh2d6	C	T	6: 72,493,371 (GRCm39)		probably null	Het
Six4	TG	T	12: 73,150,356 (GRCm39)		probably null	Het
Slc6a15	T	A	10: 103,236,077 (GRCm39)	V264D	probably damaging	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,089,493 (GRCm39)		probably benign	Het
Sost	A	T	11: 101,854,958 (GRCm39)	I117N	probably damaging	Het
Spmip5	A	G	19: 58,777,726 (GRCm39)	F28S	probably damaging	Het
Tbc1d22a	AGGTGTGTG	A	15: 86,183,975 (GRCm39)		probably null	Het
Tcaf1	C	T	6: 42,656,107 (GRCm39)	V290I	probably benign	Het
Tcof1	GCA	GCACCA	18: 60,968,815 (GRCm39)		probably benign	Het
Tex55	T	C	16: 38,648,363 (GRCm39)	T249A	probably benign	Het
Tgfbr1	A	G	4: 47,353,354 (GRCm39)	I15V	unknown	Het
Tmem241	A	T	18: 12,116,618 (GRCm39)	L288Q	probably damaging	Het
Tnfrsf13b	T	G	11: 61,032,270 (GRCm39)	V100G	probably benign	Het
Trim66	A	G	7: 109,059,960 (GRCm39)	S809P	probably damaging	Het
Tubb4a	C	G	17: 57,394,464 (GRCm39)	G17A	possibly damaging	Het
Txndc16	A	G	14: 45,406,795 (GRCm39)	V220A	probably benign	Het
Zan	T	A	5: 137,389,982 (GRCm39)	Q4830L	unknown	Het

Other mutations in Mapk6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01364:Mapk6	APN	9	75,296,072 (GRCm39)	missense	possibly damaging	0.79
IGL01843:Mapk6	APN	9	75,297,572 (GRCm39)	missense	probably damaging	1.00
IGL03060:Mapk6	APN	9	75,305,084 (GRCm39)	missense	probably damaging	0.98
PIT4651001:Mapk6	UTSW	9	75,304,869 (GRCm39)	missense	possibly damaging	0.90
R0056:Mapk6	UTSW	9	75,296,098 (GRCm39)	missense	possibly damaging	0.66
R0056:Mapk6	UTSW	9	75,296,098 (GRCm39)	missense	possibly damaging	0.66
R0659:Mapk6	UTSW	9	75,305,244 (GRCm39)	missense	probably damaging	0.99
R1673:Mapk6	UTSW	9	75,302,851 (GRCm39)	missense	probably damaging	1.00
R3419:Mapk6	UTSW	9	75,305,039 (GRCm39)	missense	probably damaging	1.00
R4798:Mapk6	UTSW	9	75,295,714 (GRCm39)	missense	probably benign
R5117:Mapk6	UTSW	9	75,305,017 (GRCm39)	missense	possibly damaging	0.56
R5190:Mapk6	UTSW	9	75,295,626 (GRCm39)	missense	probably damaging	1.00
R5521:Mapk6	UTSW	9	75,300,598 (GRCm39)	intron	probably benign
R5579:Mapk6	UTSW	9	75,295,344 (GRCm39)	missense	possibly damaging	0.63
R6792:Mapk6	UTSW	9	75,302,830 (GRCm39)	missense	probably damaging	1.00
R7237:Mapk6	UTSW	9	75,304,895 (GRCm39)	missense	probably damaging	1.00
R9328:Mapk6	UTSW	9	75,305,252 (GRCm39)	missense	possibly damaging	0.70
R9775:Mapk6	UTSW	9	75,295,668 (GRCm39)	missense	possibly damaging	0.63
RF044:Mapk6	UTSW	9	75,295,542 (GRCm39)	frame shift	probably null
RF057:Mapk6	UTSW	9	75,295,540 (GRCm39)	frame shift	probably null
X0025:Mapk6	UTSW	9	75,302,790 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAATGTCTGCTGAGGTTTAGTTCAG -3'
(R):5'- TGGGACAGCCAGTTTGTGAG -3'

Sequencing Primer
(F):5'- AGTTCAGATGTTTCAGAATGCTGC -3'
(R):5'- CCAGTTTGTGAGTGGCGG -3'

Posted On

2019-12-04