Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02451:Mapk13'

293660

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mapk13

Ensembl Gene

ENSMUSG00000004864

Gene Name

mitogen-activated protein kinase 13

Synonyms

p38 delta MAP kinase, SAPK4, Serk4

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.245) question?

Stock #

IGL02451

Quality Score

Status

Chromosome

Chromosomal Location

28769307-28778698 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28776413 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 203 (T203A)

Ref Sequence

ENSEMBL: ENSMUSP00000115659 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004986] [ENSMUST00000129096]

Predicted Effect

probably damaging
Transcript: ENSMUST00000004986
AA Change: T203A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000004986
Gene: ENSMUSG00000004864
AA Change: T203A

Domain	Start	End	E-Value	Type
S_TKc	25	308	8.72e-97	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124099

Predicted Effect

probably damaging
Transcript: ENSMUST00000129096
AA Change: T203A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115659
Gene: ENSMUSG00000004864
AA Change: T203A

Domain	Start	End	E-Value	Type
Pfam:Pkinase	25	209	1.1e-49	PFAM
Pfam:Pkinase_Tyr	27	210	2e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133786

Coding Region Coverage

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 (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. The encoded protein is a p38 MAP kinase and is activated by proinflammatory cytokines and cellular stress. Substrates of the encoded protein include the transcription factor ATF2 and the microtubule dynamics regulator stathmin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit improved glucose tolerance, increased insulin secretion, decreased blood glucose, and decreased susceptibility to diet- or chemically-induced diabetes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	G	5: 138,563,547	T126P	probably damaging	Het
Asic2	T	C	11: 80,891,737		probably benign	Het
B430305J03Rik	A	G	3: 61,364,141		probably benign	Het
Bbs7	A	G	3: 36,610,592	F47L	possibly damaging	Het
BC017158	A	G	7: 128,276,410	L257P	probably damaging	Het
Bcl2l14	G	T	6: 134,423,841	G75V	probably benign	Het
Btnl4	T	C	17: 34,475,927	H4R	probably benign	Het
Champ1	C	A	8: 13,878,739	P299Q	probably damaging	Het
Cldnd2	A	G	7: 43,441,658	K5E	probably benign	Het
Ctr9	T	A	7: 111,043,424	L401*	probably null	Het
Cyp2c29	G	A	19: 39,290,847	G96D	possibly damaging	Het
Enpp4	A	T	17: 44,101,424	L298H	probably damaging	Het
Git1	T	C	11: 77,500,687	C222R	possibly damaging	Het
Gpam	T	C	19: 55,088,203	T189A	probably damaging	Het
Hgfac	T	G	5: 35,043,814		probably null	Het
Hivep3	T	A	4: 120,133,965	S2221T	probably damaging	Het
Ifi47	T	C	11: 49,095,777	Y124H	probably damaging	Het
Il1a	T	C	2: 129,306,655	E45G	probably damaging	Het
Itga11	T	A	9: 62,735,353	I186N	probably damaging	Het
Krt16	A	T	11: 100,246,336		probably benign	Het
Mrpl37	T	A	4: 107,066,642	I52F	probably damaging	Het
Nr1i2	A	G	16: 38,249,292	F417L	probably benign	Het
Olfr1129	T	A	2: 87,575,232	S49R	probably benign	Het
Olfr811	G	A	10: 129,801,833	Q231*	probably null	Het
Osbpl1a	T	C	18: 12,914,493		probably benign	Het
Parg	C	T	14: 32,242,229	T112M	probably damaging	Het
Pifo	T	A	3: 106,014,504	E34D	probably benign	Het
Pou6f1	T	C	15: 100,579,940	T166A	possibly damaging	Het
Prtg	A	G	9: 72,856,999	I585V	possibly damaging	Het
Ptpru	T	G	4: 131,776,775		probably benign	Het
Rab6a	T	C	7: 100,636,763		probably null	Het
Rnf207	C	T	4: 152,312,412	R425H	probably benign	Het
Skiv2l2	C	T	13: 112,891,347	V660M	probably damaging	Het
Slc27a2	A	G	2: 126,578,992	M468V	probably benign	Het
Slc30a1	A	G	1: 191,907,329	H108R	possibly damaging	Het
Sned1	A	G	1: 93,236,208		probably benign	Het
Sptbn4	A	T	7: 27,365,589	F2095Y	probably null	Het
Sspo	A	T	6: 48,460,303		probably benign	Het
Tbx19	A	G	1: 165,140,171	S336P	probably benign	Het
Tmem101	T	A	11: 102,153,293	D256V	probably damaging	Het
Trbv20	T	G	6: 41,188,276	L2V	unknown	Het
Trpc7	A	G	13: 56,822,461	S382P	probably damaging	Het
Uhmk1	T	C	1: 170,212,526	T91A	possibly damaging	Het
Vmn2r10	T	A	5: 108,995,922	R721*	probably null	Het
Vmn2r94	T	A	17: 18,258,191	Y98F	possibly damaging	Het
Zcchc11	C	A	4: 108,529,276	Y1114*	probably null	Het
Zfp532	A	G	18: 65,623,601	R202G	probably damaging	Het
Zfp827	T	C	8: 79,060,972	S256P	probably damaging	Het
Zzef1	T	C	11: 72,901,388	I2266T	probably damaging	Het

Other mutations in Mapk13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Mapk13	APN	17	28776405	missense	probably damaging	1.00
IGL01918:Mapk13	APN	17	28775330	missense	probably damaging	1.00
IGL02265:Mapk13	APN	17	28777718	splice site	probably benign
IGL02977:Mapk13	APN	17	28776348	missense	probably damaging	1.00
IGL03118:Mapk13	APN	17	28777735	missense	probably benign	0.14
IGL03188:Mapk13	APN	17	28776583	intron	probably benign
R0501:Mapk13	UTSW	17	28776353	missense	probably damaging	1.00
R0538:Mapk13	UTSW	17	28775255	missense	probably damaging	1.00
R2240:Mapk13	UTSW	17	28778111	missense	probably damaging	0.98
R4368:Mapk13	UTSW	17	28777565	splice site	probably null
R4613:Mapk13	UTSW	17	28769452	missense	probably damaging	1.00
R4649:Mapk13	UTSW	17	28778487	nonsense	probably null
R4684:Mapk13	UTSW	17	28770049	missense	probably damaging	1.00
R4796:Mapk13	UTSW	17	28775554	missense	probably damaging	1.00
R4863:Mapk13	UTSW	17	28776310	missense	probably damaging	1.00
R4923:Mapk13	UTSW	17	28778223	missense	probably benign
R5220:Mapk13	UTSW	17	28778491	missense	probably benign	0.00
R5247:Mapk13	UTSW	17	28777751	missense	probably benign	0.01
R5370:Mapk13	UTSW	17	28776352	nonsense	probably null
R6838:Mapk13	UTSW	17	28777561	splice site	probably null
R6843:Mapk13	UTSW	17	28775453	intron	probably null
R7187:Mapk13	UTSW	17	28776387	missense	probably damaging	1.00
Z1088:Mapk13	UTSW	17	28777533	missense	possibly damaging	0.48

Posted On

2015-04-16