Mutagenetix > Incidental Mutation

Incidental Mutation 'R9249:Mapk13'

701458

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R9249 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28988260-28997678 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28988490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 36 (Y36C)

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: Y36C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000004986
Gene: ENSMUSG00000004864
AA Change: Y36C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000129096
AA Change: Y36C

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

SMART Domains

Protein: ENSMUSP00000115659
Gene: ENSMUSG00000004864
AA Change: Y36C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,220,165 (GRCm39)		probably benign	Het
Arfgef2	T	C	2: 166,733,690 (GRCm39)	F1650S	probably damaging	Het
Bscl2	A	T	19: 8,820,378 (GRCm39)	D133V	probably damaging	Het
Cacna1c	T	C	6: 118,590,288 (GRCm39)	Y1564C		Het
Ccdc182	T	C	11: 88,185,178 (GRCm39)	V86A	probably benign	Het
Cd44	T	G	2: 102,661,747 (GRCm39)	T616P	possibly damaging	Het
Cep152	C	T	2: 125,405,904 (GRCm39)	E1543K	probably benign	Het
Chpf2	C	A	5: 24,794,235 (GRCm39)	T135K	probably damaging	Het
Cntn4	C	T	6: 106,466,722 (GRCm39)	P208L	possibly damaging	Het
Col6a3	T	A	1: 90,707,020 (GRCm39)	Y2638F	unknown	Het
Csmd2	C	A	4: 128,313,323 (GRCm39)	Y1333*	probably null	Het
Cyp3a25	T	C	5: 145,928,356 (GRCm39)	T230A	possibly damaging	Het
Dbndd2	T	C	2: 164,328,077 (GRCm39)		probably benign	Het
Ecpas	T	C	4: 58,869,427 (GRCm39)	K280R	probably damaging	Het
Egfl8	C	A	17: 34,833,491 (GRCm39)	A133S	probably benign	Het
Fasn	T	C	11: 120,703,915 (GRCm39)	H1475R	probably benign	Het
Gdpd5	T	C	7: 99,107,989 (GRCm39)	L522P	probably damaging	Het
Gzmd	T	G	14: 56,368,790 (GRCm39)	M35L	probably damaging	Het
Herc2	T	A	7: 55,762,890 (GRCm39)	L873Q	probably damaging	Het
Hsd3b6	T	C	3: 98,713,679 (GRCm39)	K207E	probably benign	Het
Ikbkb	T	A	8: 23,171,735 (GRCm39)	K171*	probably null	Het
Il21	T	A	3: 37,279,677 (GRCm39)		probably null	Het
Itga1	T	C	13: 115,185,834 (GRCm39)	N56S	probably damaging	Het
Map1lc3b	T	C	8: 122,322,833 (GRCm39)		probably null	Het
Myh3	C	T	11: 66,975,855 (GRCm39)	P296S	probably benign	Het
Myo5a	A	G	9: 75,097,279 (GRCm39)	N1319S	possibly damaging	Het
Myot	T	C	18: 44,479,265 (GRCm39)	V334A	probably benign	Het
Ncor2	T	C	5: 125,186,988 (GRCm39)	E12G	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nphs2	G	A	1: 156,144,416 (GRCm39)	R140Q	probably damaging	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Nvl	A	G	1: 180,962,593 (GRCm39)	Y126H	probably damaging	Het
Or1j14	T	C	2: 36,417,559 (GRCm39)	I45T	probably damaging	Het
Or5w1	A	T	2: 87,486,660 (GRCm39)	F202I	probably benign	Het
Or8g29-ps1	T	A	9: 39,200,602 (GRCm39)	N195Y	unknown	Het
Or8g36	A	T	9: 39,422,149 (GRCm39)	I289N	probably damaging	Het
Osbpl8	T	A	10: 111,122,012 (GRCm39)	D651E	probably benign	Het
Papola	T	A	12: 105,799,403 (GRCm39)	H677Q	probably benign	Het
Pcbp3	T	C	10: 76,635,377 (GRCm39)	S59G	probably benign	Het
Pkd1l2	T	A	8: 117,746,159 (GRCm39)	I1944F	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Polb	A	T	8: 23,143,084 (GRCm39)	N37K	probably benign	Het
Ppfia2	T	C	10: 106,749,429 (GRCm39)	V1105A	probably damaging	Het
Ric3	C	T	7: 108,647,212 (GRCm39)	D204N	probably damaging	Het
Scn8a	A	G	15: 100,914,456 (GRCm39)	D1154G	probably benign	Het
Sdk1	C	A	5: 142,129,550 (GRCm39)	N1590K	probably damaging	Het
Sec31a	C	A	5: 100,533,083 (GRCm39)	R163L	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Serpina3i	C	T	12: 104,231,728 (GRCm39)	Q122*	probably null	Het
Sgo2b	A	C	8: 64,391,407 (GRCm39)	Y153*	probably null	Het
Sgsm1	T	A	5: 113,428,201 (GRCm39)	H329L	possibly damaging	Het
Sh3tc2	A	C	18: 62,107,598 (GRCm39)	N203T	possibly damaging	Het
Skint8	C	A	4: 111,794,159 (GRCm39)	T183K	probably damaging	Het
Slc6a20a	T	C	9: 123,507,941 (GRCm39)		probably benign	Het
Slc8a2	T	C	7: 15,891,156 (GRCm39)	F732S	probably damaging	Het
Spata16	T	C	3: 26,787,030 (GRCm39)	V236A	possibly damaging	Het
Stard5	A	G	7: 83,281,253 (GRCm39)	D2G	probably damaging	Het
Stk25	T	C	1: 93,552,806 (GRCm39)	S328G	probably benign	Het
Tmem39b	A	T	4: 129,572,468 (GRCm39)	M378K	probably damaging	Het
Tspan10	T	C	11: 120,337,051 (GRCm39)	F274L	probably benign	Het
Tssk1	A	T	16: 17,712,724 (GRCm39)	I170L	probably benign	Het
Vmn1r6	A	G	6: 56,979,760 (GRCm39)	R141G	probably benign	Het
Wdfy3	A	G	5: 101,996,359 (GRCm39)	S3168P	possibly damaging	Het
Zfp458	T	A	13: 67,405,218 (GRCm39)	H407L	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
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
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'- TCTTCCTACAGTCTCTAGGCAG -3'
(R):5'- TTGGCAAGTTCCCCTCTTGG -3'

Sequencing Primer
(F):5'- TACAGTCTCTAGGCAGCCTCG -3'
(R):5'- TTGGGGCCTCATCTGCAAC -3'

Posted On

2022-03-25