Mutagenetix > Incidental Mutation

Incidental Mutation 'R4632:Mapk11'

349310

Institutional Source

Beutler Lab

Gene Symbol

Mapk11

Ensembl Gene

ENSMUSG00000053137

Gene Name

mitogen-activated protein kinase 11

Synonyms

p38beta, Sapk2, Prkm11, P38b

MMRRC Submission

041897-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4632 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89026685-89033809 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89030579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 105 (V105M)

Ref Sequence

ENSEMBL: ENSMUSP00000086204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088823]

AlphaFold

Q9WUI1

Predicted Effect

probably damaging
Transcript: ENSMUST00000088823
AA Change: V105M

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

SMART Domains

Protein: ENSMUSP00000086204
Gene: ENSMUSG00000053137
AA Change: V105M

Domain	Start	End	E-Value	Type
S_TKc	24	308	1.67e-84	SMART
low complexity region	313	325	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230734

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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 a family of protein kinases that are involved in the integration of biochemical signals for a wide variety of cellular processes, including cell proliferation, differentiation, transcriptional regulation, and development. The encoded protein can be activated by proinflammatory cytokines and environmental stresses through phosphorylation by mitogen activated protein kinase kinases (MKKs). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	C	17: 31,283,447 (GRCm39)	V44A	probably benign	Het
Abr	C	T	11: 76,399,845 (GRCm39)	G39R	probably benign	Het
Adora2b	TGGACCACTCCAGGACCACTC	TGGACCACTC	11: 62,156,208 (GRCm39)		probably null	Het
Agbl1	A	G	7: 76,063,433 (GRCm39)	T47A	probably benign	Het
Akap13	G	T	7: 75,316,301 (GRCm39)	A1389S	possibly damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankar	T	A	1: 72,686,343 (GRCm39)	T1286S	probably benign	Het
Ankrd13c	A	G	3: 157,667,939 (GRCm39)	H166R	probably damaging	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Arl16	A	G	11: 120,356,610 (GRCm39)	S130P	probably damaging	Het
Atp10a	A	T	7: 58,457,186 (GRCm39)	Q895L	possibly damaging	Het
Atp13a5	T	A	16: 29,167,537 (GRCm39)	R138W	probably damaging	Het
Auts2	G	A	5: 131,501,113 (GRCm39)	T309M	probably damaging	Het
C6	A	T	15: 4,789,350 (GRCm39)	K265I	probably benign	Het
Casz1	A	G	4: 149,036,312 (GRCm39)	T1525A	possibly damaging	Het
Cd200l1	T	G	16: 45,238,271 (GRCm39)	H181P	probably benign	Het
Chpf2	A	G	5: 24,796,829 (GRCm39)	T592A	probably benign	Het
Cilp	A	T	9: 65,187,162 (GRCm39)	T1086S	probably benign	Het
Cmip	A	G	8: 118,174,150 (GRCm39)	Y410C	possibly damaging	Het
Csmd3	A	G	15: 47,874,605 (GRCm39)	C560R	probably damaging	Het
Dchs1	T	A	7: 105,403,562 (GRCm39)	E2993D	probably benign	Het
Dnah7a	A	G	1: 53,467,110 (GRCm39)	F3585L	probably damaging	Het
Dspp	A	G	5: 104,325,272 (GRCm39)	D545G	unknown	Het
Dusp7	T	A	9: 106,247,965 (GRCm39)	S198T	possibly damaging	Het
Ell2	A	T	13: 75,917,693 (GRCm39)	Q541L	possibly damaging	Het
Fzd1	A	T	5: 4,805,865 (GRCm39)	Y572*	probably null	Het
Galntl6	T	A	8: 58,880,857 (GRCm39)	I99F	probably damaging	Het
Gnat3	G	A	5: 18,220,364 (GRCm39)		probably null	Het
Hykk	T	C	9: 54,853,800 (GRCm39)	I374T	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnt2	A	G	1: 140,450,886 (GRCm39)	I722V	possibly damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Krt13	A	G	11: 100,012,050 (GRCm39)	L91P	possibly damaging	Het
Krtap4-13	A	C	11: 99,700,354 (GRCm39)	S102A	unknown	Het
Lrp2	A	G	2: 69,319,473 (GRCm39)		probably null	Het
Lrriq1	C	T	10: 103,057,288 (GRCm39)	V171I	probably damaging	Het
Map3k4	C	G	17: 12,451,391 (GRCm39)	E1501Q	probably damaging	Het
Mlph	G	A	1: 90,867,108 (GRCm39)	A377T	probably damaging	Het
Myo9a	G	A	9: 59,776,947 (GRCm39)	C1115Y	probably benign	Het
Nabp1	A	T	1: 51,513,761 (GRCm39)	Y78*	probably null	Het
Nos2	T	C	11: 78,848,417 (GRCm39)	F1108S	possibly damaging	Het
Oas2	T	C	5: 120,871,546 (GRCm39)	K699R	probably benign	Het
Olfm5	T	C	7: 103,810,100 (GRCm39)	D87G	probably benign	Het
Oog3	A	G	4: 143,884,698 (GRCm39)	F413L	probably benign	Het
Or2c1	C	T	16: 3,656,951 (GRCm39)	T38M	probably damaging	Het
Pik3r4	A	G	9: 105,532,098 (GRCm39)	M557V	probably benign	Het
Pkhd1l1	A	G	15: 44,347,796 (GRCm39)	T224A	probably benign	Het
Pknox2	A	G	9: 36,805,709 (GRCm39)	S367P	probably benign	Het
Ppfia2	A	G	10: 106,671,905 (GRCm39)		probably null	Het
Ppm1e	G	A	11: 87,122,356 (GRCm39)	P534S	probably damaging	Het
Prepl	T	C	17: 85,390,659 (GRCm39)	T100A	probably benign	Het
Ptpn13	A	G	5: 103,717,726 (GRCm39)	N1924S	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Samd12	T	A	15: 53,583,067 (GRCm39)	H89L	possibly damaging	Het
Sephs1	T	A	2: 4,901,571 (GRCm39)	V211E	probably benign	Het
Setx	C	T	2: 29,038,627 (GRCm39)	T1704I	probably benign	Het
Sltm	T	C	9: 70,486,651 (GRCm39)	S439P	possibly damaging	Het
Sort1	G	T	3: 108,253,994 (GRCm39)	Q553H	probably damaging	Het
Svs5	G	T	2: 164,079,667 (GRCm39)	T80N	probably benign	Het
Tanc1	C	A	2: 59,626,179 (GRCm39)	T512K	probably damaging	Het
Tas2r139	T	A	6: 42,118,432 (GRCm39)	V188E	probably damaging	Het
Tesk2	C	T	4: 116,598,909 (GRCm39)	R6W	probably benign	Het
Tex101	G	T	7: 24,367,793 (GRCm39)	C186*	probably null	Het
Timp2	C	T	11: 118,194,598 (GRCm39)	S197N	probably benign	Het
Tmem37	A	T	1: 119,995,979 (GRCm39)	C33S	probably damaging	Het
Tmem69	T	C	4: 116,410,235 (GRCm39)	D245G	probably benign	Het
Trak1	G	A	9: 121,283,491 (GRCm39)	R419Q	probably benign	Het
Ube2j2	T	A	4: 156,039,715 (GRCm39)	I14N	probably damaging	Het
Ush2a	T	A	1: 188,128,071 (GRCm39)	N694K	possibly damaging	Het
Utp20	A	G	10: 88,614,123 (GRCm39)	V1277A	probably damaging	Het
Vmn2r100	C	T	17: 19,752,216 (GRCm39)	S753F	probably damaging	Het
Vmn2r103	T	C	17: 20,013,958 (GRCm39)	I250T	probably benign	Het
Zap70	G	T	1: 36,817,539 (GRCm39)	A261S	probably benign	Het
Zdhhc6	A	G	19: 55,302,741 (GRCm39)	W87R	probably damaging	Het
Zfp410	A	T	12: 84,372,510 (GRCm39)	D112V	probably damaging	Het
Zfp462	T	C	4: 55,012,981 (GRCm39)	F501S	probably damaging	Het

Other mutations in Mapk11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01744:Mapk11	APN	15	89,031,046 (GRCm39)	splice site	probably benign
IGL02164:Mapk11	APN	15	89,029,651 (GRCm39)	critical splice acceptor site	probably null
IGL02825:Mapk11	APN	15	89,030,585 (GRCm39)	missense	probably damaging	1.00
E0370:Mapk11	UTSW	15	89,030,716 (GRCm39)	missense	probably damaging	1.00
R1764:Mapk11	UTSW	15	89,028,594 (GRCm39)	critical splice donor site	probably null
R2158:Mapk11	UTSW	15	89,030,575 (GRCm39)	missense	probably damaging	0.98
R3149:Mapk11	UTSW	15	89,029,653 (GRCm39)	splice site	probably null
R3150:Mapk11	UTSW	15	89,029,653 (GRCm39)	splice site	probably null
R3730:Mapk11	UTSW	15	89,029,318 (GRCm39)	missense	probably benign	0.27
R4319:Mapk11	UTSW	15	89,030,946 (GRCm39)	missense	probably damaging	1.00
R4424:Mapk11	UTSW	15	89,029,576 (GRCm39)	critical splice donor site	probably null
R4783:Mapk11	UTSW	15	89,033,691 (GRCm39)	missense	probably damaging	0.98
R4937:Mapk11	UTSW	15	89,030,685 (GRCm39)	missense	probably benign
R5422:Mapk11	UTSW	15	89,030,488 (GRCm39)	missense	probably damaging	1.00
R5511:Mapk11	UTSW	15	89,029,380 (GRCm39)	critical splice acceptor site	probably null
R5914:Mapk11	UTSW	15	89,030,038 (GRCm39)	missense	probably benign	0.21
R5972:Mapk11	UTSW	15	89,028,387 (GRCm39)	missense	probably benign	0.34
R7290:Mapk11	UTSW	15	89,028,511 (GRCm39)	missense	probably damaging	1.00
R8244:Mapk11	UTSW	15	89,030,007 (GRCm39)	missense	possibly damaging	0.73
R8974:Mapk11	UTSW	15	89,028,014 (GRCm39)	missense	probably benign	0.00
R9276:Mapk11	UTSW	15	89,029,372 (GRCm39)	missense	probably damaging	1.00
R9432:Mapk11	UTSW	15	89,028,631 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCGAGTGGATATACTGCAGAG -3'
(R):5'- CTAAGGCTAAGCTGTGATCCTGC -3'

Sequencing Primer
(F):5'- AGCAGACCGAGTGAGCC -3'
(R):5'- TAAGCTGTGATCCTGCCTCGG -3'

Posted On

2015-10-08