Mutagenetix > Incidental Mutation

Incidental Mutation 'R2240:Mapk13'

240353

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

040240-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R2240 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28988260-28997678 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28997085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 292 (D292E)

Ref Sequence

ENSEMBL: ENSMUSP00000004986 (fasta)

Gene Model

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

AlphaFold

Q9Z1B7

Predicted Effect

probably damaging
Transcript: ENSMUST00000004986
AA Change: D292E

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000004986
Gene: ENSMUSG00000004864
AA Change: D292E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124099

Predicted Effect

probably benign
Transcript: ENSMUST00000129096
AA Change: C242S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000115659
Gene: ENSMUSG00000004864
AA Change: C242S

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: 99.2%
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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,595,417 (GRCm39)	I318N	probably damaging	Het
Abl1	A	G	2: 31,690,517 (GRCm39)	K679E	probably benign	Het
Actr8	A	G	14: 29,711,714 (GRCm39)	H420R	possibly damaging	Het
Arhgap29	T	A	3: 121,805,102 (GRCm39)	V897D	probably benign	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Bicc1	A	G	10: 70,782,633 (GRCm39)		probably null	Het
Brd4	T	C	17: 32,432,613 (GRCm39)		probably benign	Het
Camk2g	T	C	14: 20,815,514 (GRCm39)	E184G	probably damaging	Het
Camta1	T	C	4: 151,169,032 (GRCm39)	S240G	possibly damaging	Het
Cbx7	C	A	15: 79,802,558 (GRCm39)	A240S	probably damaging	Het
Ccdc181	A	T	1: 164,107,596 (GRCm39)	D93V	probably damaging	Het
Ces2g	A	C	8: 105,689,134 (GRCm39)	S37R	probably benign	Het
Clca3a1	T	A	3: 144,714,746 (GRCm39)	R624W	probably damaging	Het
Clca3b	T	C	3: 144,531,696 (GRCm39)	K703E	probably benign	Het
Clec2h	T	C	6: 128,652,845 (GRCm39)	V204A	probably benign	Het
Cltb	T	C	13: 54,746,967 (GRCm39)	N3S	possibly damaging	Het
Col9a1	A	G	1: 24,218,582 (GRCm39)	I65V	unknown	Het
D430041D05Rik	C	T	2: 103,987,161 (GRCm39)	R1895Q	probably damaging	Het
Dnah1	T	C	14: 31,021,931 (GRCm39)	S1191G	probably benign	Het
Ehf	G	A	2: 103,104,420 (GRCm39)	P163S	probably benign	Het
Fam170b	A	C	14: 32,557,825 (GRCm39)	H220P	probably damaging	Het
Fastkd1	G	A	2: 69,527,297 (GRCm39)	T598I	probably benign	Het
Fignl2	C	T	15: 100,951,916 (GRCm39)	G122D	probably damaging	Het
Foxp4	C	A	17: 48,182,201 (GRCm39)	V530L	unknown	Het
Gcnt1	G	T	19: 17,306,695 (GRCm39)	D343E	possibly damaging	Het
Gja8	T	G	3: 96,827,618 (GRCm39)	N15H	probably benign	Het
Gm128	T	C	3: 95,148,243 (GRCm39)	E17G	probably benign	Het
Gnl1	T	C	17: 36,293,571 (GRCm39)	V252A	probably benign	Het
Gpld1	G	A	13: 25,166,490 (GRCm39)		probably null	Het
Gpr179	A	G	11: 97,242,559 (GRCm39)	L95P	probably damaging	Het
Gtf2a1	A	T	12: 91,553,513 (GRCm39)	D31E	possibly damaging	Het
Il12a	T	A	3: 68,601,517 (GRCm39)	Y58*	probably null	Het
Il1r2	T	C	1: 40,144,630 (GRCm39)	W106R	probably damaging	Het
Kif26b	A	G	1: 178,543,488 (GRCm39)	S374G	probably benign	Het
Mafb	A	T	2: 160,207,947 (GRCm39)	V217E	probably damaging	Het
Matn2	A	G	15: 34,433,209 (GRCm39)	D871G	probably damaging	Het
Mdn1	C	A	4: 32,765,701 (GRCm39)	T5220K	possibly damaging	Het
Mfsd6	T	C	1: 52,699,978 (GRCm39)	I723M	probably damaging	Het
Mia2	G	A	12: 59,154,668 (GRCm39)	S127N	probably benign	Het
Mpeg1	A	C	19: 12,440,402 (GRCm39)	E620A	probably damaging	Het
Mrgprb3	A	T	7: 48,293,389 (GRCm39)	F54Y	probably damaging	Het
Mtx2	A	G	2: 74,699,696 (GRCm39)	I156V	probably benign	Het
Neurog1	T	C	13: 56,399,348 (GRCm39)	E133G	probably damaging	Het
Nid2	G	A	14: 19,855,982 (GRCm39)	D1236N	probably damaging	Het
Nif3l1	A	G	1: 58,491,288 (GRCm39)	T213A	probably benign	Het
Or7e173	A	G	9: 19,938,440 (GRCm39)	S265P	probably damaging	Het
Otog	A	G	7: 45,890,453 (GRCm39)	M1V	probably null	Het
Pde4dip	C	T	3: 97,631,480 (GRCm39)	R1143K	probably benign	Het
Pgam2	T	C	11: 5,753,265 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,090,250 (GRCm39)	D30G	probably damaging	Het
Pramel5	C	A	4: 143,999,506 (GRCm39)	E194*	probably null	Het
Prss22	T	A	17: 24,215,755 (GRCm39)	S56C	probably damaging	Het
Rab23	A	G	1: 33,778,406 (GRCm39)	N216S	probably benign	Het
Rasgrf1	A	T	9: 89,858,815 (GRCm39)	E491V	probably damaging	Het
Rbbp8	C	T	18: 11,810,726 (GRCm39)	T76I	probably damaging	Het
Rtn2	G	A	7: 19,020,754 (GRCm39)		probably null	Het
Sdr39u1	A	T	14: 56,137,124 (GRCm39)	N62K	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Slc26a3	T	C	12: 31,507,071 (GRCm39)	V342A	probably damaging	Het
Slc49a3	A	G	5: 108,592,573 (GRCm39)	S234P	probably benign	Het
Snx30	G	T	4: 59,886,515 (GRCm39)	C308F	probably damaging	Het
Timd2	A	T	11: 46,569,043 (GRCm39)	V205E	probably benign	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tnfaip6	G	A	2: 51,940,926 (GRCm39)	D156N	probably benign	Het
Uggt2	T	A	14: 119,232,461 (GRCm39)	E1463D	probably damaging	Het
Urb2	C	A	8: 124,756,878 (GRCm39)	P862T	probably benign	Het
Vmn1r64	A	T	7: 5,887,369 (GRCm39)	L58*	probably null	Het
Vmn2r3	C	A	3: 64,166,483 (GRCm39)	G883C	probably benign	Het
Vps13d	A	T	4: 144,837,465 (GRCm39)	C2707S	possibly damaging	Het
Wdr11	G	T	7: 129,207,418 (GRCm39)		probably null	Het
Wdr37	T	A	13: 8,911,268 (GRCm39)		probably benign	Het
Wtap	G	A	17: 13,194,352 (GRCm39)	Q95*	probably null	Het
Zfp26	A	T	9: 20,348,563 (GRCm39)	L667H	probably damaging	Het
Zfp268	C	T	4: 145,311,891 (GRCm39)		probably benign	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
R4368:Mapk13	UTSW	17	28,996,539 (GRCm39)	splice site	probably null
R4613:Mapk13	UTSW	17	28,988,426 (GRCm39)	missense	probably damaging	1.00
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'- TCACTAGGTGCAAGGCTCAC -3'
(R):5'- ACAGGAGATGGACAGCTACC -3'

Sequencing Primer
(F):5'- TCACCAGGTGCAATGCTC -3'
(R):5'- ACAGGTGTGTCCCCTTAGG -3'

Posted On

2014-10-15