Mutagenetix > Incidental Mutation

Incidental Mutation 'R7477:Mapk14'

579583

Institutional Source

Beutler Lab

Gene Symbol

Mapk14

Ensembl Gene

ENSMUSG00000053436

Gene Name

mitogen-activated protein kinase 14

Synonyms

p38 MAP Kinase, Mxi2, CSBP2, p38 MAP kinase alpha, p38alpha, p38-alpha, p38, Csbp1, Crk1, p38a, p38 MAPK, p38 alpha, p38MAPK

MMRRC Submission

045551-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7477 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28910303-28967380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 28964052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 313 (D313N)

Ref Sequence

ENSEMBL: ENSMUSP00000004990 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004990] [ENSMUST00000062694] [ENSMUST00000114752] [ENSMUST00000114754] [ENSMUST00000114758]

AlphaFold

P47811

Predicted Effect

probably damaging
Transcript: ENSMUST00000004990
AA Change: D313N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000004990
Gene: ENSMUSG00000053436
AA Change: D313N

Domain	Start	End	E-Value	Type
S_TKc	24	308	3.46e-91	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000062694
AA Change: D313N

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061958
Gene: ENSMUSG00000053436
AA Change: D313N

Domain	Start	End	E-Value	Type
S_TKc	24	308	7.42e-91	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114752
AA Change: D236N

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110400
Gene: ENSMUSG00000053436
AA Change: D236N

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	193	7.3e-22	PFAM
Pfam:Pkinase	1	231	1.9e-55	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114754
AA Change: D236N

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110402
Gene: ENSMUSG00000053436
AA Change: D236N

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	193	7.3e-22	PFAM
Pfam:Pkinase	1	231	1.9e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114758

SMART Domains

Protein: ENSMUSP00000110406
Gene: ENSMUSG00000053436

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	24	242	3.8e-32	PFAM
Pfam:Pkinase	24	257	9.4e-65	PFAM
Pfam:Kdo	40	181	3e-7	PFAM

Meta Mutation Damage Score

0.4995

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

97% (66/68)

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 MAP kinase family. MAP kinases 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. This kinase is activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for various null mutations are embryonic to perinatal lethal showing multiple organ system defects. Mice homozygous for a knock-out mutation exhibit abnormal myoblast differentiation and delayed myofiber growth and maturation. [provided by MGI curators]

Allele List at MGI

All alleles(20) : Targeted, knock-out(4) Targeted, other(9) Gene trapped(7)

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	G	T	5: 35,749,447 (GRCm39)	E191*	probably null	Het
Adam26a	T	A	8: 44,022,107 (GRCm39)	E461V	probably damaging	Het
Adamtsl1	G	A	4: 86,333,888 (GRCm39)	R1539Q	probably damaging	Het
Adipor2	A	T	6: 119,338,883 (GRCm39)	H123Q	probably benign	Het
Akap13	C	T	7: 75,398,995 (GRCm39)	S2691L	probably benign	Het
Aldh1l1	T	C	6: 90,575,369 (GRCm39)		probably null	Het
Ankrd11	A	T	8: 123,621,124 (GRCm39)	S909R	possibly damaging	Het
Bop1	T	C	15: 76,339,526 (GRCm39)	E273G	probably damaging	Het
Car1	G	A	3: 14,841,343 (GRCm39)	H97Y	probably damaging	Het
Casp14	T	C	10: 78,550,138 (GRCm39)	N170S	probably benign	Het
Ccdc158	A	T	5: 92,798,555 (GRCm39)	L382M	probably damaging	Het
Ccdc18	A	C	5: 108,368,716 (GRCm39)	Q1279H	probably damaging	Het
Cdh18	A	G	15: 23,410,811 (GRCm39)	N432S	probably benign	Het
Ctdp1	T	C	18: 80,483,929 (GRCm39)		probably null	Het
Dhx30	A	G	9: 109,916,208 (GRCm39)	I691T	probably damaging	Het
Dnah9	A	G	11: 65,883,557 (GRCm39)	I2562T	probably damaging	Het
Dsp	A	T	13: 38,356,839 (GRCm39)	I240F	probably damaging	Het
Ell	T	C	8: 71,037,868 (GRCm39)	S308P	probably benign	Het
Elmo1	A	G	13: 20,469,489 (GRCm39)	D26G		Het
Fam171a1	T	C	2: 3,226,676 (GRCm39)	V603A	probably benign	Het
Fam83e	G	A	7: 45,378,404 (GRCm39)	G476D	probably damaging	Het
Farp2	A	G	1: 93,508,750 (GRCm39)		probably null	Het
Fcer1a	C	T	1: 173,048,851 (GRCm39)		probably null	Het
Gpr179	G	T	11: 97,226,665 (GRCm39)	T1830K	possibly damaging	Het
Grin3a	G	A	4: 49,719,278 (GRCm39)	P823S	probably damaging	Het
Heatr4	T	A	12: 84,026,604 (GRCm39)	I218F	probably damaging	Het
Il36rn	T	A	2: 24,169,704 (GRCm39)	Y21*	probably null	Het
Jakmip1	A	G	5: 37,330,915 (GRCm39)	T532A	probably benign	Het
Klf11	A	G	12: 24,703,562 (GRCm39)	D16G	probably benign	Het
Lrp1	T	A	10: 127,404,789 (GRCm39)	I1971F	probably damaging	Het
Lrrc9	T	A	12: 72,550,301 (GRCm39)		probably null	Het
Lrrk2	C	T	15: 91,696,528 (GRCm39)	L2439F	probably damaging	Het
Lypd10	A	G	7: 24,413,673 (GRCm39)	T230A	probably benign	Het
Max	A	T	12: 76,999,960 (GRCm39)	S52T	probably benign	Het
Mrpl23	A	G	7: 142,091,018 (GRCm39)	R80G	possibly damaging	Het
Muc5ac	C	A	7: 141,370,019 (GRCm39)	N3186K	possibly damaging	Het
Mylk2	G	A	2: 152,762,261 (GRCm39)	V511I	probably damaging	Het
Mypn	T	C	10: 62,961,500 (GRCm39)	M1031V	possibly damaging	Het
Nbeal1	A	G	1: 60,300,743 (GRCm39)	T1488A	probably benign	Het
Ncbp1	A	T	4: 46,157,897 (GRCm39)	E378D	probably damaging	Het
Nedd9	A	T	13: 41,471,956 (GRCm39)	D174E	probably benign	Het
Nid2	T	A	14: 19,856,041 (GRCm39)	D1255E	probably benign	Het
Nlrc3	A	G	16: 3,782,675 (GRCm39)	C261R	probably damaging	Het
Or5w22	A	G	2: 87,362,431 (GRCm39)	N18S	probably benign	Het
Pgam1	T	A	19: 41,905,255 (GRCm39)	H196Q	probably damaging	Het
Pja2	A	C	17: 64,616,640 (GRCm39)	V85G	possibly damaging	Het
Pkd2	G	A	5: 104,631,108 (GRCm39)	V511M	probably benign	Het
Ppp2cb	T	A	8: 34,105,502 (GRCm39)	S171T	probably benign	Het
Prkab2	T	C	3: 97,566,063 (GRCm39)	F45S	probably damaging	Het
Rabep2	A	T	7: 126,043,990 (GRCm39)		probably null	Het
Rnf41	T	A	10: 128,271,303 (GRCm39)	I71N	probably damaging	Het
Slc5a7	G	A	17: 54,588,787 (GRCm39)	P287S	probably damaging	Het
Smc6	A	G	12: 11,321,808 (GRCm39)	D25G	probably benign	Het
Sptb	A	T	12: 76,675,339 (GRCm39)	L225Q	probably damaging	Het
Tenm4	A	C	7: 96,495,015 (GRCm39)	I1148L	probably damaging	Het
Tnk2	C	A	16: 32,496,709 (GRCm39)		probably null	Het
Trank1	G	A	9: 111,194,025 (GRCm39)	S683N	probably benign	Het
Trp53bp1	A	C	2: 121,066,827 (GRCm39)	V633G	probably benign	Het
Ugt2a3	T	C	5: 87,484,479 (GRCm39)	K182E	possibly damaging	Het
Uncx	A	T	5: 139,533,017 (GRCm39)	T361S	probably benign	Het
Vmn2r11	A	T	5: 109,207,214 (GRCm39)	N35K	possibly damaging	Het
Vmn2r4	C	A	3: 64,305,850 (GRCm39)	R524L	probably benign	Het
Vmn2r5	C	T	3: 64,399,060 (GRCm39)	V640M	probably damaging	Het
Washc4	T	C	10: 83,410,307 (GRCm39)	Y632H	probably damaging	Het
Xkr6	T	C	14: 63,844,129 (GRCm39)	S51P	possibly damaging	Het
Zer1	C	A	2: 29,997,988 (GRCm39)	K408N	probably null	Het
Znhit2	A	G	19: 6,112,501 (GRCm39)		probably null	Het

Other mutations in Mapk14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01680:Mapk14	APN	17	28,944,820 (GRCm39)	critical splice donor site	probably null
IGL03013:Mapk14	APN	17	28,947,323 (GRCm39)	splice site	probably benign
Hanzhou	UTSW	17	28,964,052 (GRCm39)	missense	probably damaging	0.99
Wanzhou	UTSW	17	28,943,798 (GRCm39)	missense	probably damaging	1.00
D4043:Mapk14	UTSW	17	28,964,124 (GRCm39)	missense	probably damaging	1.00
R0418:Mapk14	UTSW	17	28,910,763 (GRCm39)	missense	probably benign
R4513:Mapk14	UTSW	17	28,943,798 (GRCm39)	missense	probably damaging	1.00
R4514:Mapk14	UTSW	17	28,943,798 (GRCm39)	missense	probably damaging	1.00
R4674:Mapk14	UTSW	17	28,963,996 (GRCm39)	splice site	probably null
R4981:Mapk14	UTSW	17	28,960,765 (GRCm39)	missense	probably damaging	1.00
R5418:Mapk14	UTSW	17	28,960,817 (GRCm39)	missense	possibly damaging	0.65
R7792:Mapk14	UTSW	17	28,965,271 (GRCm39)	missense	probably damaging	0.99
R7915:Mapk14	UTSW	17	28,947,928 (GRCm39)	missense	probably benign	0.00
R8208:Mapk14	UTSW	17	28,943,807 (GRCm39)	missense	probably damaging	1.00
R8241:Mapk14	UTSW	17	28,934,374 (GRCm39)	missense	possibly damaging	0.89
R8407:Mapk14	UTSW	17	28,963,983 (GRCm39)	missense	probably benign
R9048:Mapk14	UTSW	17	28,947,358 (GRCm39)	missense	probably benign
R9095:Mapk14	UTSW	17	28,934,413 (GRCm39)	missense	probably benign	0.00
R9169:Mapk14	UTSW	17	28,960,814 (GRCm39)	missense	probably benign
R9549:Mapk14	UTSW	17	28,934,415 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACACCTTAAAGGATGCTTTGTG -3'
(R):5'- AGGTCCAATCTCCAGCACTG -3'

Sequencing Primer
(F):5'- ACCTTAAAGGATGCTTTGTGTGGATG -3'
(R):5'- GCTTTTAATCTCAGCACTCGGAAGG -3'

Posted On

2019-10-07