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: 0.178) question?

Stock #

R4613 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

28988260-28997678 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28988426 bp (GRCm39)

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: 48,439,167 (GRCm39)	L130I	probably benign	Het
Abca9	A	G	11: 110,035,610 (GRCm39)	V670A	probably benign	Het
Adad1	A	G	3: 37,146,182 (GRCm39)	N517D	probably damaging	Het
Ankle2	T	C	5: 110,379,245 (GRCm39)	L48P	probably benign	Het
Aoc3	A	T	11: 101,228,485 (GRCm39)		probably benign	Het
Areg	A	G	5: 91,291,363 (GRCm39)	K102R	probably benign	Het
Bmp1	T	C	14: 70,745,963 (GRCm39)	T167A	probably damaging	Het
C4b	C	T	17: 34,953,525 (GRCm39)	G986D	probably benign	Het
Caml	G	T	13: 55,772,955 (GRCm39)	G200C	probably damaging	Het
Ccdc40	A	C	11: 119,122,358 (GRCm39)	R53S	probably benign	Het
Cdh22	T	A	2: 164,985,576 (GRCm39)	I337L	probably benign	Het
Col12a1	A	T	9: 79,554,883 (GRCm39)	V2065D	probably benign	Het
Copg2	A	G	6: 30,788,531 (GRCm39)	S591P	probably benign	Het
Cyp2d34	G	A	15: 82,500,526 (GRCm39)	P438S	probably damaging	Het
Dchs1	T	C	7: 105,421,931 (GRCm39)	D163G	probably damaging	Het
Depdc1b	T	C	13: 108,500,177 (GRCm39)	V230A	probably damaging	Het
Depdc5	T	A	5: 33,132,790 (GRCm39)	L1300H	probably damaging	Het
Dnah10	G	T	5: 124,839,933 (GRCm39)		probably null	Het
Dsc2	A	T	18: 20,174,876 (GRCm39)	D466E	probably damaging	Het
Dthd1	A	G	5: 62,984,411 (GRCm39)	D372G	probably damaging	Het
Eeig2	A	T	3: 108,934,571 (GRCm39)	F23I	probably benign	Het
Eogt	G	T	6: 97,111,265 (GRCm39)	Q199K	probably benign	Het
Epha6	C	A	16: 59,486,960 (GRCm39)	R1029L	possibly damaging	Het
Eppin	C	A	2: 164,431,243 (GRCm39)	E128*	probably null	Het
Fgf20	T	C	8: 40,739,652 (GRCm39)	R33G	probably benign	Het
Fgg	A	G	3: 82,917,397 (GRCm39)	N142S	probably damaging	Het
Fhip2a	C	A	19: 57,359,619 (GRCm39)	P53Q	probably damaging	Het
Gba1	C	T	3: 89,115,951 (GRCm39)		probably null	Het
Gli2	A	G	1: 118,765,241 (GRCm39)	V970A	probably damaging	Het
Gramd1b	A	T	9: 40,219,289 (GRCm39)	V508D	probably damaging	Het
Gucy2c	T	A	6: 136,685,319 (GRCm39)	D898V	probably damaging	Het
Kcnj15	T	C	16: 95,096,653 (GRCm39)	Y92H	probably damaging	Het
L3mbtl3	A	T	10: 26,158,693 (GRCm39)	S652T	unknown	Het
Ldb2	G	T	5: 44,633,893 (GRCm39)	Q326K	probably benign	Het
Lipi	C	A	16: 75,357,689 (GRCm39)	R292L	probably benign	Het
Lrrc36	G	A	8: 106,176,246 (GRCm39)	V207I	possibly damaging	Het
Lyplal1	C	T	1: 185,820,949 (GRCm39)	G166D	probably benign	Het
Map1b	A	T	13: 99,566,810 (GRCm39)	Y1970*	probably null	Het
Map2	A	G	1: 66,464,628 (GRCm39)	N287D	probably damaging	Het
Map3k11	G	T	19: 5,747,499 (GRCm39)	Q578H	probably damaging	Het
Map3k11	A	T	19: 5,747,498 (GRCm39)	Q578L	probably benign	Het
Map4k4	G	A	1: 40,056,351 (GRCm39)	S1012N	probably benign	Het
Mapk15	G	A	15: 75,867,759 (GRCm39)	A125T	probably damaging	Het
Mrgprb1	C	A	7: 48,097,456 (GRCm39)	R152L	possibly damaging	Het
Mtrex	C	A	13: 113,058,273 (GRCm39)	E53*	probably null	Het
Muc5ac	T	G	7: 141,344,840 (GRCm39)	Y104D	possibly damaging	Het
Myo1h	A	G	5: 114,486,440 (GRCm39)	N566S	possibly damaging	Het
Myo1h	C	A	5: 114,489,737 (GRCm39)	H647Q	probably benign	Het
Neo1	A	G	9: 58,796,324 (GRCm39)	I1201T	possibly damaging	Het
Nlgn1	T	C	3: 25,490,186 (GRCm39)	T514A	probably benign	Het
Or10al4	A	G	17: 38,037,587 (GRCm39)	Y224C	probably damaging	Het
Or12j4	A	T	7: 140,046,981 (GRCm39)	Y289F	probably damaging	Het
Or7a42	A	G	10: 78,791,899 (GRCm39)	N287D	probably damaging	Het
Or8d4	T	A	9: 40,039,018 (GRCm39)	K80*	probably null	Het
Orc2	A	T	1: 58,539,468 (GRCm39)	L57*	probably null	Het
Otoa	G	A	7: 120,744,791 (GRCm39)	V850M	probably damaging	Het
Pcnx3	T	C	19: 5,717,247 (GRCm39)	T1579A	possibly damaging	Het
Pde5a	A	T	3: 122,616,742 (GRCm39)	Y564F	probably damaging	Het
Pdxk	A	C	10: 78,283,753 (GRCm39)	I147S	probably damaging	Het
Pfdn5	A	G	15: 102,237,187 (GRCm39)	D108G	probably benign	Het
Pink1	T	C	4: 138,044,621 (GRCm39)	D342G	probably damaging	Het
Prkacb	A	T	3: 146,443,753 (GRCm39)	V336E	probably damaging	Het
Ptpro	C	A	6: 137,393,834 (GRCm39)	S13*	probably null	Het
Rfng	A	G	11: 120,673,476 (GRCm39)	L215P	probably damaging	Het
Rpn2	T	C	2: 157,144,345 (GRCm39)	F336L	possibly damaging	Het
Sacs	A	G	14: 61,449,246 (GRCm39)		probably null	Het
Sirpb1a	T	A	3: 15,482,097 (GRCm39)	Y77F	probably benign	Het
Slc30a8	A	G	15: 52,196,971 (GRCm39)	D294G	probably benign	Het
Sox13	T	C	1: 133,316,672 (GRCm39)	I212V	probably benign	Het
Srebf2	T	A	15: 82,069,549 (GRCm39)	I657N	possibly damaging	Het
Srsf6	C	A	2: 162,775,629 (GRCm39)	T146K	probably benign	Het
Strn4	T	C	7: 16,558,088 (GRCm39)	V162A	possibly damaging	Het
Sulf2	T	C	2: 165,974,525 (GRCm39)	D53G	probably damaging	Het
Tbc1d8	T	A	1: 39,411,789 (GRCm39)	I1016F	probably damaging	Het
Tfrc	G	T	16: 32,437,475 (GRCm39)	A278S	probably damaging	Het
Tnrc6a	T	G	7: 122,783,512 (GRCm39)		probably null	Het
Vmn1r83	T	C	7: 12,055,695 (GRCm39)	I121V	probably benign	Het
Vps13d	T	C	4: 144,858,225 (GRCm39)	S2200G	possibly damaging	Het
Washc2	T	A	6: 116,206,230 (GRCm39)	D397E	probably damaging	Het
Wipf3	T	C	6: 54,462,540 (GRCm39)	L250P	probably damaging	Het
Xirp1	A	G	9: 119,848,748 (GRCm39)	F45S	probably damaging	Het
Xpo5	A	G	17: 46,547,889 (GRCm39)	T910A	probably benign	Het
Zfp235	T	C	7: 23,841,101 (GRCm39)	Y507H	probably damaging	Het

Other mutations in Mapk13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Mapk13	APN	17	28,995,379 (GRCm39)	missense	probably damaging	1.00
IGL01918:Mapk13	APN	17	28,994,304 (GRCm39)	missense	probably damaging	1.00
IGL02265:Mapk13	APN	17	28,996,692 (GRCm39)	splice site	probably benign
IGL02451:Mapk13	APN	17	28,995,387 (GRCm39)	missense	probably damaging	1.00
IGL02977:Mapk13	APN	17	28,995,322 (GRCm39)	missense	probably damaging	1.00
IGL03118:Mapk13	APN	17	28,996,709 (GRCm39)	missense	probably benign	0.14
IGL03188:Mapk13	APN	17	28,995,557 (GRCm39)	intron	probably benign
R0501:Mapk13	UTSW	17	28,995,327 (GRCm39)	missense	probably damaging	1.00
R0538:Mapk13	UTSW	17	28,994,229 (GRCm39)	missense	probably damaging	1.00
R2240:Mapk13	UTSW	17	28,997,085 (GRCm39)	missense	probably damaging	0.98
R4368:Mapk13	UTSW	17	28,996,539 (GRCm39)	splice site	probably null
R4649:Mapk13	UTSW	17	28,997,461 (GRCm39)	nonsense	probably null
R4684:Mapk13	UTSW	17	28,989,023 (GRCm39)	missense	probably damaging	1.00
R4796:Mapk13	UTSW	17	28,994,528 (GRCm39)	missense	probably damaging	1.00
R4863:Mapk13	UTSW	17	28,995,284 (GRCm39)	missense	probably damaging	1.00
R4923:Mapk13	UTSW	17	28,997,197 (GRCm39)	missense	probably benign
R5220:Mapk13	UTSW	17	28,997,465 (GRCm39)	missense	probably benign	0.00
R5247:Mapk13	UTSW	17	28,996,725 (GRCm39)	missense	probably benign	0.01
R5370:Mapk13	UTSW	17	28,995,326 (GRCm39)	nonsense	probably null
R6838:Mapk13	UTSW	17	28,996,535 (GRCm39)	splice site	probably null
R6843:Mapk13	UTSW	17	28,994,427 (GRCm39)	splice site	probably null
R7187:Mapk13	UTSW	17	28,995,361 (GRCm39)	missense	probably damaging	1.00
R9018:Mapk13	UTSW	17	28,996,760 (GRCm39)	missense	probably benign
R9227:Mapk13	UTSW	17	28,994,532 (GRCm39)	missense	probably damaging	1.00
R9230:Mapk13	UTSW	17	28,994,532 (GRCm39)	missense	probably damaging	1.00
R9241:Mapk13	UTSW	17	28,990,187 (GRCm39)	missense	probably damaging	0.99
R9249:Mapk13	UTSW	17	28,988,490 (GRCm39)	missense	probably damaging	1.00
R9274:Mapk13	UTSW	17	28,988,490 (GRCm39)	missense	probably damaging	1.00
R9777:Mapk13	UTSW	17	28,997,075 (GRCm39)	missense	probably damaging	1.00
Z1088:Mapk13	UTSW	17	28,996,507 (GRCm39)	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