Mutagenetix > Incidental Mutation

Incidental Mutation 'R0610:Mapk9'

54638

Institutional Source

Beutler Lab

Gene Symbol

Mapk9

Ensembl Gene

ENSMUSG00000020366

Gene Name

mitogen-activated protein kinase 9

Synonyms

c-Jun N-terminal kinase, Prkm9, JNK2, JNK/SAPK alpha

MMRRC Submission

038799-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.324) question?

Stock #

R0610 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49737578-49777248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 49754400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 51 (N51T)

Ref Sequence

ENSEMBL: ENSMUSP00000136977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020634] [ENSMUST00000043321] [ENSMUST00000102778] [ENSMUST00000109178] [ENSMUST00000109179] [ENSMUST00000178543] [ENSMUST00000164643]

AlphaFold

Q9WTU6

Predicted Effect

probably benign
Transcript: ENSMUST00000020634
AA Change: N51T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000020634
Gene: ENSMUSG00000020366
AA Change: N51T

Domain	Start	End	E-Value	Type
S_TKc	26	321	4.01e-87	SMART
low complexity region	387	399	N/A	INTRINSIC
low complexity region	403	416	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000043321
AA Change: N51T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000042744
Gene: ENSMUSG00000020366
AA Change: N51T

Domain	Start	End	E-Value	Type
S_TKc	26	321	7.6e-88	SMART
low complexity region	387	399	N/A	INTRINSIC
low complexity region	403	416	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102778
AA Change: N51T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000099839
Gene: ENSMUSG00000020366
AA Change: N51T

Domain	Start	End	E-Value	Type
S_TKc	26	321	7.6e-88	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109178
AA Change: N51T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000104807
Gene: ENSMUSG00000020366
AA Change: N51T

Domain	Start	End	E-Value	Type
S_TKc	26	321	4.01e-87	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109179
AA Change: N51T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000104808
Gene: ENSMUSG00000020366
AA Change: N51T

Domain	Start	End	E-Value	Type
S_TKc	26	321	7.6e-88	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148274

Predicted Effect

probably benign
Transcript: ENSMUST00000178543
AA Change: N51T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000136977
Gene: ENSMUSG00000020366
AA Change: N51T

Domain	Start	End	E-Value	Type
S_TKc	26	321	7.6e-88	SMART
low complexity region	387	399	N/A	INTRINSIC
low complexity region	403	416	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164643
AA Change: N51T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000132864
Gene: ENSMUSG00000020366
AA Change: N51T

Domain	Start	End	E-Value	Type
S_TKc	26	321	4.01e-87	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151695

Meta Mutation Damage Score

0.0778

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.7%

Validation Efficiency

99% (97/98)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the 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. This kinase targets specific transcription factors, and thus mediates immediate-early gene expression in response to various cell stimuli. It is most closely related to MAPK8, both of which are involved in UV radiation induced apoptosis, thought to be related to the cytochrome c-mediated cell death pathway. This gene and MAPK8 are also known as c-Jun N-terminal kinases. This kinase blocks the ubiquitination of tumor suppressor p53, and thus it increases the stability of p53 in nonstressed cells. Studies of this gene's mouse counterpart suggest a key role in T-cell differentiation. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Sep 2008]
PHENOTYPE: Homozygotes for a null allele show resistance to TNF-induced liver injury, impaired TH1 cell differentiation, and enhanced epidermal differentiation and proliferation. Homozygotes for a reporter allele show impaired T-cell activation and apoptosis, resistance to I-R cardiac injury, and reduced LTP. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
4930578I06Rik	G	A	14: 64,223,714 (GRCm39)	R21*	probably null	Het
Abca15	A	G	7: 119,965,009 (GRCm39)	E757G	possibly damaging	Het
Abca5	T	C	11: 110,192,353 (GRCm39)	T720A	probably benign	Het
Actr5	T	A	2: 158,474,376 (GRCm39)		probably null	Het
Adgrl3	T	C	5: 81,841,563 (GRCm39)		probably benign	Het
Adra1a	A	G	14: 66,875,241 (GRCm39)	D72G	probably damaging	Het
Ahcyl	T	C	16: 45,974,264 (GRCm39)	E371G	probably damaging	Het
Ahnak	G	T	19: 8,985,242 (GRCm39)	L2175F	probably benign	Het
AK157302	A	G	13: 21,679,833 (GRCm39)	T120A	possibly damaging	Het
Apol7a	G	A	15: 77,273,454 (GRCm39)	A336V	probably benign	Het
Asic1	C	A	15: 99,596,780 (GRCm39)	H525Q	probably benign	Het
Atxn7l2	T	C	3: 108,112,090 (GRCm39)	D335G	possibly damaging	Het
Bpgm	G	T	6: 34,481,284 (GRCm39)	R227L	possibly damaging	Het
Calm4	T	A	13: 3,888,320 (GRCm39)	V142E	possibly damaging	Het
Catsperg1	A	T	7: 28,890,044 (GRCm39)	L721Q	probably damaging	Het
Cdh26	A	G	2: 178,091,691 (GRCm39)	I83M	probably damaging	Het
Cep295	A	C	9: 15,234,050 (GRCm39)	S2249A	possibly damaging	Het
Cfhr4	G	A	1: 139,629,584 (GRCm39)	T799I	probably benign	Het
Cln3	A	G	7: 126,179,361 (GRCm39)	F139L	probably damaging	Het
Cmpk2	T	A	12: 26,528,055 (GRCm39)	L424Q	possibly damaging	Het
Col12a1	A	T	9: 79,615,130 (GRCm39)	V53E	probably benign	Het
Csmd1	G	A	8: 15,968,208 (GRCm39)	R3140C	possibly damaging	Het
Dagla	A	G	19: 10,248,922 (GRCm39)	W11R	probably damaging	Het
Dbx2	C	T	15: 95,522,778 (GRCm39)	V310M	probably benign	Het
Disp2	T	A	2: 118,622,717 (GRCm39)	C1150S	probably benign	Het
Dock3	T	C	9: 106,900,987 (GRCm39)	D326G	probably damaging	Het
Dph1	G	T	11: 75,076,783 (GRCm39)		probably benign	Het
Dyrk1b	C	A	7: 27,886,059 (GRCm39)	T594K	probably damaging	Het
Evx2	C	A	2: 74,486,331 (GRCm39)	A353S	probably benign	Het
Garin1b	T	A	6: 29,326,576 (GRCm39)	V231E	probably benign	Het
Greb1	A	C	12: 16,746,443 (GRCm39)	S1276A	probably benign	Het
Hhipl1	T	A	12: 108,285,661 (GRCm39)	C490*	probably null	Het
Hmmr	G	T	11: 40,606,729 (GRCm39)	T231K	probably damaging	Het
Hspa4l	A	C	3: 40,733,832 (GRCm39)	E526D	probably benign	Het
Ibsp	A	G	5: 104,458,000 (GRCm39)	E179G	probably benign	Het
Ift140	C	T	17: 25,254,777 (GRCm39)	A150V	probably benign	Het
Igf2bp2	A	G	16: 21,889,059 (GRCm39)	S416P	probably benign	Het
Ighe	T	C	12: 113,235,363 (GRCm39)	K294E	unknown	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kng2	T	A	16: 22,819,344 (GRCm39)	N231Y	possibly damaging	Het
Lca5	A	T	9: 83,281,792 (GRCm39)	C331S	probably benign	Het
Lrrc1	A	G	9: 77,379,488 (GRCm39)	I101T	possibly damaging	Het
Lrrk2	A	T	15: 91,699,619 (GRCm39)	I2489L	probably benign	Het
Lyz3	A	G	10: 117,073,635 (GRCm39)	F66S	probably benign	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Nek2	T	A	1: 191,554,627 (GRCm39)	V113D	probably damaging	Het
Nr4a3	C	A	4: 48,051,903 (GRCm39)	A248E	probably benign	Het
Nrp1	T	C	8: 129,229,099 (GRCm39)	I859T	probably damaging	Het
Olfm5	A	T	7: 103,803,652 (GRCm39)	Y195*	probably null	Het
Or13j1	T	A	4: 43,706,400 (GRCm39)	H56L	possibly damaging	Het
Or1n2	T	A	2: 36,797,671 (GRCm39)	W238R	probably damaging	Het
Or8g35	A	G	9: 39,381,119 (GRCm39)	L301P	probably damaging	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pcnx2	A	G	8: 126,566,426 (GRCm39)	W1006R	probably damaging	Het
Pdpk1	T	C	17: 24,317,145 (GRCm39)		probably null	Het
Ryr2	T	A	13: 11,637,838 (GRCm39)	H3731L	probably damaging	Het
Sdr16c5	T	G	4: 4,016,116 (GRCm39)	E103D	possibly damaging	Het
Setdb2	A	C	14: 59,654,919 (GRCm39)	S324A	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc17a8	A	T	10: 89,412,488 (GRCm39)	I499K	probably damaging	Het
Slc2a9	T	A	5: 38,537,285 (GRCm39)	I389F	probably damaging	Het
Slc30a1	T	C	1: 191,641,536 (GRCm39)	V394A	probably damaging	Het
Slc41a2	A	G	10: 83,119,592 (GRCm39)	I390T	possibly damaging	Het
Slco1a1	A	G	6: 141,864,187 (GRCm39)		probably null	Het
Slit2	A	G	5: 48,433,016 (GRCm39)	K1053E	possibly damaging	Het
Smarca2	T	A	19: 26,668,791 (GRCm39)	L930Q	probably damaging	Het
Snx6	T	C	12: 54,798,574 (GRCm39)	H387R	probably damaging	Het
Sox5	A	T	6: 143,779,165 (GRCm39)	M622K	possibly damaging	Het
Ston1	C	A	17: 88,942,709 (GRCm39)	N38K	possibly damaging	Het
Strbp	C	T	2: 37,474,089 (GRCm39)	V658I	probably damaging	Het
Strn3	T	C	12: 51,657,231 (GRCm39)		probably null	Het
Suco	T	G	1: 161,687,072 (GRCm39)	D96A	probably benign	Het
Suco	A	G	1: 161,691,601 (GRCm39)		probably benign	Het
Sytl2	A	T	7: 90,030,061 (GRCm39)		probably benign	Het
Tmem41b	T	A	7: 109,580,290 (GRCm39)	M25L	probably benign	Het
Tmem41b	T	A	7: 109,580,292 (GRCm39)	D91V	probably damaging	Het
Tmem50b	C	T	16: 91,380,174 (GRCm39)	A68T	probably damaging	Het
Tmprss11e	G	A	5: 86,855,206 (GRCm39)	Q400*	probably null	Het
Tnfsf13b	G	A	8: 10,081,661 (GRCm39)		probably null	Het
Trappc8	A	G	18: 20,970,245 (GRCm39)	V916A	probably damaging	Het
Trdn	G	T	10: 33,350,449 (GRCm39)	V673F	probably damaging	Het
Trim28	G	T	7: 12,759,711 (GRCm39)		probably benign	Het
Txnrd2	T	C	16: 18,291,632 (GRCm39)	V427A	probably damaging	Het
Uggt1	T	C	1: 36,204,587 (GRCm39)		probably benign	Het
Vmn1r36	A	G	6: 66,693,404 (GRCm39)	L51P	probably damaging	Het
Vmn1r63	T	A	7: 5,806,063 (GRCm39)	M190L	possibly damaging	Het
Vmn2r116	T	A	17: 23,606,286 (GRCm39)	N399K	probably damaging	Het
Vmn2r117	T	C	17: 23,694,488 (GRCm39)	N453S	probably benign	Het
Wbp1l	T	A	19: 46,643,109 (GRCm39)	I370N	probably damaging	Het
Zfp445	T	C	9: 122,682,046 (GRCm39)	K632E	probably benign	Het
Zfp850	C	T	7: 27,688,819 (GRCm39)	R463H	probably damaging	Het
Zyg11a	A	G	4: 108,062,054 (GRCm39)	L249P	probably damaging	Het

Other mutations in Mapk9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03085:Mapk9	APN	11	49,757,865 (GRCm39)	missense	probably damaging	1.00
IGL03399:Mapk9	APN	11	49,774,126 (GRCm39)	utr 3 prime	probably benign
Infirm	UTSW	11	49,754,383 (GRCm39)	missense	probably damaging	1.00
R0003:Mapk9	UTSW	11	49,757,866 (GRCm39)	missense	possibly damaging	0.52
R0676:Mapk9	UTSW	11	49,773,983 (GRCm39)	makesense	probably null
R0681:Mapk9	UTSW	11	49,760,072 (GRCm39)	missense	probably damaging	1.00
R0736:Mapk9	UTSW	11	49,774,081 (GRCm39)	missense	possibly damaging	0.58
R1186:Mapk9	UTSW	11	49,769,096 (GRCm39)	missense	probably damaging	0.99
R1964:Mapk9	UTSW	11	49,745,160 (GRCm39)	missense	probably null	1.00
R2424:Mapk9	UTSW	11	49,754,499 (GRCm39)	missense	probably damaging	1.00
R4876:Mapk9	UTSW	11	49,745,152 (GRCm39)	missense	probably damaging	0.97
R6191:Mapk9	UTSW	11	49,754,383 (GRCm39)	missense	probably damaging	1.00
R7059:Mapk9	UTSW	11	49,757,874 (GRCm39)	splice site	probably null
R7484:Mapk9	UTSW	11	49,763,663 (GRCm39)	missense	probably damaging	0.97
R7951:Mapk9	UTSW	11	49,754,422 (GRCm39)	missense	probably damaging	1.00
R8834:Mapk9	UTSW	11	49,774,010 (GRCm39)	missense	probably damaging	1.00
R9104:Mapk9	UTSW	11	49,760,000 (GRCm39)	missense	probably damaging	1.00
R9158:Mapk9	UTSW	11	49,745,095 (GRCm39)	missense	probably benign	0.02
R9176:Mapk9	UTSW	11	49,763,565 (GRCm39)	nonsense	probably null
R9573:Mapk9	UTSW	11	49,769,239 (GRCm39)	missense	probably damaging	0.99
RF010:Mapk9	UTSW	11	49,745,083 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGGCCTGGGAAAGCATAATCAGTC -3'
(R):5'- CAATCTTCGGTCTGGTCACACCAC -3'

Sequencing Primer
(F):5'- GGAAGAATTGCTGAATCCCTCTC -3'
(R):5'- GGTCTGGTCACACCACTAACATC -3'

Posted On

2013-07-11