Mutagenetix > Incidental Mutation

Incidental Mutation 'R4613:Mapk13'

351008

Institutional Source

Beutler Lab

Gene Symbol

Mapk13

Ensembl Gene

ENSMUSG00000004864

Gene Name

mitogen-activated protein kinase 13

Synonyms

p38 delta MAP kinase, SAPK4, Serk4

MMRRC Submission

041824-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R4613 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

28769307-28778698 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28769452 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 15 (N15Y)

Ref Sequence

ENSEMBL: ENSMUSP00000115659 (fasta)

Gene Model

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

AlphaFold

Q9Z1B7

Predicted Effect

probably damaging
Transcript: ENSMUST00000004986
AA Change: N15Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000004986
Gene: ENSMUSG00000004864
AA Change: N15Y

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: N15Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115659
Gene: ENSMUSG00000004864
AA Change: N15Y

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

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	T	17: 48,128,557	L130I	probably benign	Het
Abca9	A	G	11: 110,144,784	V670A	probably benign	Het
Adad1	A	G	3: 37,092,033	N517D	probably damaging	Het
Ankle2	T	C	5: 110,231,379	L48P	probably benign	Het
Aoc3	A	T	11: 101,337,659		probably benign	Het
Areg	A	G	5: 91,143,504	K102R	probably benign	Het
Bmp1	T	C	14: 70,508,523	T167A	probably damaging	Het
C4b	C	T	17: 34,734,551	G986D	probably benign	Het
Caml	G	T	13: 55,625,142	G200C	probably damaging	Het
Ccdc40	A	C	11: 119,231,532	R53S	probably benign	Het
Cdh22	T	A	2: 165,143,656	I337L	probably benign	Het
Col12a1	A	T	9: 79,647,601	V2065D	probably benign	Het
Copg2	A	G	6: 30,811,596	S591P	probably benign	Het
Cyp2d34	G	A	15: 82,616,325	P438S	probably damaging	Het
Dchs1	T	C	7: 105,772,724	D163G	probably damaging	Het
Depdc1b	T	C	13: 108,363,643	V230A	probably damaging	Het
Depdc5	T	A	5: 32,975,446	L1300H	probably damaging	Het
Dnah10	G	T	5: 124,762,869		probably null	Het
Dsc2	A	T	18: 20,041,819	D466E	probably damaging	Het
Dthd1	A	G	5: 62,827,068	D372G	probably damaging	Het
Eogt	G	T	6: 97,134,304	Q199K	probably benign	Het
Epha6	C	A	16: 59,666,597	R1029L	possibly damaging	Het
Eppin	C	A	2: 164,589,323	E128*	probably null	Het
Fam102b	A	T	3: 109,027,255	F23I	probably benign	Het
Fam160b1	C	A	19: 57,371,187	P53Q	probably damaging	Het
Fgf20	T	C	8: 40,286,611	R33G	probably benign	Het
Fgg	A	G	3: 83,010,090	N142S	probably damaging	Het
Gba	C	T	3: 89,208,644		probably null	Het
Gli2	A	G	1: 118,837,511	V970A	probably damaging	Het
Gramd1b	A	T	9: 40,307,993	V508D	probably damaging	Het
Gucy2c	T	A	6: 136,708,321	D898V	probably damaging	Het
Kcnj15	T	C	16: 95,295,794	Y92H	probably damaging	Het
L3mbtl3	A	T	10: 26,282,795	S652T	unknown	Het
Ldb2	G	T	5: 44,476,551	Q326K	probably benign	Het
Lipi	C	A	16: 75,560,801	R292L	probably benign	Het
Lrrc36	G	A	8: 105,449,614	V207I	possibly damaging	Het
Lyplal1	C	T	1: 186,088,752	G166D	probably benign	Het
Map1b	A	T	13: 99,430,302	Y1970*	probably null	Het
Map2	A	G	1: 66,425,469	N287D	probably damaging	Het
Map3k11	A	T	19: 5,697,470	Q578L	probably benign	Het
Map3k11	G	T	19: 5,697,471	Q578H	probably damaging	Het
Map4k4	G	A	1: 40,017,191	S1012N	probably benign	Het
Mapk15	G	A	15: 75,995,910	A125T	probably damaging	Het
Mrgprb1	C	A	7: 48,447,708	R152L	possibly damaging	Het
Muc5ac	T	G	7: 141,791,103	Y104D	possibly damaging	Het
Myo1h	A	G	5: 114,348,379	N566S	possibly damaging	Het
Myo1h	C	A	5: 114,351,676	H647Q	probably benign	Het
Neo1	A	G	9: 58,889,041	I1201T	possibly damaging	Het
Nlgn1	T	C	3: 25,436,022	T514A	probably benign	Het
Olfr120	A	G	17: 37,726,696	Y224C	probably damaging	Het
Olfr533	A	T	7: 140,467,068	Y289F	probably damaging	Het
Olfr8	A	G	10: 78,956,065	N287D	probably damaging	Het
Olfr985	T	A	9: 40,127,722	K80*	probably null	Het
Orc2	A	T	1: 58,500,309	L57*	probably null	Het
Otoa	G	A	7: 121,145,568	V850M	probably damaging	Het
Pcnx3	T	C	19: 5,667,219	T1579A	possibly damaging	Het
Pde5a	A	T	3: 122,823,093	Y564F	probably damaging	Het
Pdxk	A	C	10: 78,447,919	I147S	probably damaging	Het
Pfdn5	A	G	15: 102,328,752	D108G	probably benign	Het
Pink1	T	C	4: 138,317,310	D342G	probably damaging	Het
Prkacb	A	T	3: 146,737,998	V336E	probably damaging	Het
Ptpro	C	A	6: 137,416,836	S13*	probably null	Het
Rfng	A	G	11: 120,782,650	L215P	probably damaging	Het
Rpn2	T	C	2: 157,302,425	F336L	possibly damaging	Het
Sacs	A	G	14: 61,211,797		probably null	Het
Sirpb1a	T	A	3: 15,417,037	Y77F	probably benign	Het
Skiv2l2	C	A	13: 112,921,739	E53*	probably null	Het
Slc30a8	A	G	15: 52,333,575	D294G	probably benign	Het
Sox13	T	C	1: 133,388,934	I212V	probably benign	Het
Srebf2	T	A	15: 82,185,348	I657N	possibly damaging	Het
Srsf6	C	A	2: 162,933,709	T146K	probably benign	Het
Strn4	T	C	7: 16,824,163	V162A	possibly damaging	Het
Sulf2	T	C	2: 166,132,605	D53G	probably damaging	Het
Tbc1d8	T	A	1: 39,372,708	I1016F	probably damaging	Het
Tfrc	G	T	16: 32,618,657	A278S	probably damaging	Het
Tnrc6a	T	G	7: 123,184,289		probably null	Het
Vmn1r83	T	C	7: 12,321,768	I121V	probably benign	Het
Vps13d	T	C	4: 145,131,655	S2200G	possibly damaging	Het
Washc2	T	A	6: 116,229,269	D397E	probably damaging	Het
Wipf3	T	C	6: 54,485,555	L250P	probably damaging	Het
Xirp1	A	G	9: 120,019,682	F45S	probably damaging	Het
Xpo5	A	G	17: 46,236,963	T910A	probably benign	Het
Zfp235	T	C	7: 24,141,676	Y507H	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
IGL02451:Mapk13	APN	17	28776413	missense	probably damaging	1.00
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
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	splice site	probably null
R7187:Mapk13	UTSW	17	28776387	missense	probably damaging	1.00
R9018:Mapk13	UTSW	17	28777786	missense	probably benign
R9227:Mapk13	UTSW	17	28775558	missense	probably damaging	1.00
R9230:Mapk13	UTSW	17	28775558	missense	probably damaging	1.00
R9241:Mapk13	UTSW	17	28771213	missense	probably damaging	0.99
R9249:Mapk13	UTSW	17	28769516	missense	probably damaging	1.00
R9274:Mapk13	UTSW	17	28769516	missense	probably damaging	1.00
R9777:Mapk13	UTSW	17	28778101	missense	probably damaging	1.00
Z1088:Mapk13	UTSW	17	28777533	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- TACAGTCTCTAGGCAGCCTC -3'
(R):5'- AAAGTTACAGCCTTGGAGAACC -3'

Sequencing Primer
(F):5'- CTCAGCACCTGCAGCAG -3'
(R):5'- GAGAACCAGATTCGCCAGCG -3'

Posted On

2015-10-08