Mutagenetix > Incidental Mutation

Incidental Mutation 'R0003:Mapk9'

32338

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

038299-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.342) question?

Stock #

R0003 (G1)

Quality Score

162

Status

Validated

Chromosome

Chromosomal Location

49737578-49777248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49757866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 103 (D103E)

Ref Sequence

ENSEMBL: ENSMUSP00000136977 (fasta)

Gene Model

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

AlphaFold

Q9WTU6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020634
AA Change: D103E

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020634
Gene: ENSMUSG00000020366
AA Change: D103E

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

possibly damaging
Transcript: ENSMUST00000043321
AA Change: D103E

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000042744
Gene: ENSMUSG00000020366
AA Change: D103E

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

possibly damaging
Transcript: ENSMUST00000102778
AA Change: D103E

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099839
Gene: ENSMUSG00000020366
AA Change: D103E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109178
AA Change: D103E

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104807
Gene: ENSMUSG00000020366
AA Change: D103E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109179
AA Change: D103E

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104808
Gene: ENSMUSG00000020366
AA Change: D103E

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

possibly damaging
Transcript: ENSMUST00000164643
AA Change: D103E

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132864
Gene: ENSMUSG00000020366
AA Change: D103E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178543
AA Change: D103E

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000136977
Gene: ENSMUSG00000020366
AA Change: D103E

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

noncoding transcript
Transcript: ENSMUST00000151695

Meta Mutation Damage Score

0.1222

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.7%

Validation Efficiency

94% (82/87)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	A	11: 46,019,616 (GRCm39)	C439S	probably damaging	Het
Adnp2	T	C	18: 80,174,205 (GRCm39)	Y68C	probably damaging	Het
Ahctf1	A	T	1: 179,591,038 (GRCm39)	D1247E	probably benign	Het
Alms1	T	A	6: 85,606,192 (GRCm39)	M2614K	possibly damaging	Het
Alx3	A	G	3: 107,512,292 (GRCm39)	H310R	probably damaging	Het
Ambra1	C	T	2: 91,741,773 (GRCm39)	T1016M	probably damaging	Het
Ankrd35	A	G	3: 96,591,331 (GRCm39)	E539G	probably damaging	Het
Aptx	A	G	4: 40,695,145 (GRCm39)		probably benign	Het
Arsi	C	T	18: 61,050,058 (GRCm39)	R314C	probably benign	Het
Atp1a3	T	C	7: 24,688,989 (GRCm39)		probably benign	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
Bicra	G	T	7: 15,705,812 (GRCm39)	T1543K	probably benign	Het
Bltp2	T	A	11: 78,177,404 (GRCm39)	V1903E	possibly damaging	Het
Bzw2	A	C	12: 36,180,014 (GRCm39)	I71S	probably damaging	Het
Camk2a	C	T	18: 61,093,079 (GRCm39)	A302V	probably damaging	Het
Ccdc12	A	G	9: 110,485,665 (GRCm39)	E12G	possibly damaging	Het
Cd300lb	A	T	11: 114,819,164 (GRCm39)	F19Y	probably benign	Het
Clcn3	A	T	8: 61,380,330 (GRCm39)	C535*	probably null	Het
Cntnap5c	A	G	17: 58,506,012 (GRCm39)	T679A	probably benign	Het
Cpsf7	G	A	19: 10,516,993 (GRCm39)	S365N	possibly damaging	Het
Cspg4b	T	A	13: 113,505,310 (GRCm39)	S2146R	probably benign	Het
Cyp20a1	T	C	1: 60,426,285 (GRCm39)		probably benign	Het
Decr2	A	T	17: 26,302,027 (GRCm39)	N234K	probably benign	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Dnah12	T	C	14: 26,494,601 (GRCm39)	F1300L	probably damaging	Het
Dock1	T	C	7: 134,331,793 (GRCm39)		probably benign	Het
Dpy19l4	A	T	4: 11,267,619 (GRCm39)	N440K	probably damaging	Het
Eprs1	T	C	1: 185,146,588 (GRCm39)	V1206A	probably damaging	Het
Exoc6b	A	G	6: 84,831,681 (GRCm39)		probably null	Het
Fam184b	A	G	5: 45,712,536 (GRCm39)		probably benign	Het
Fcho1	A	T	8: 72,161,597 (GRCm39)	S858T	probably damaging	Het
Fgfr1	A	G	8: 26,058,214 (GRCm39)	D430G	possibly damaging	Het
Fmnl3	T	C	15: 99,219,013 (GRCm39)	T807A	probably damaging	Het
Gabra5	T	C	7: 57,063,476 (GRCm39)	Y316C	probably damaging	Het
Gh	A	G	11: 106,192,346 (GRCm39)	L16P	probably damaging	Het
Glipr2	A	T	4: 43,970,532 (GRCm39)	I87F	probably damaging	Het
Glrb	T	A	3: 80,763,221 (GRCm39)	I259F	probably damaging	Het
Gpr63	T	C	4: 25,007,651 (GRCm39)	L125P	probably damaging	Het
Grb2	A	G	11: 115,546,251 (GRCm39)	Y37H	probably damaging	Het
Haus2	G	A	2: 120,449,449 (GRCm39)		probably benign	Het
Hmgcr	T	C	13: 96,788,653 (GRCm39)	N749S	probably damaging	Het
Igf1r	T	C	7: 67,814,990 (GRCm39)	V297A	probably damaging	Het
Il12rb2	G	T	6: 67,293,270 (GRCm39)	P69H	probably damaging	Het
Ints3	C	A	3: 90,315,818 (GRCm39)	M315I	probably benign	Het
Izumo2	C	T	7: 44,364,833 (GRCm39)	T116I	probably benign	Het
Kctd19	A	C	8: 106,121,993 (GRCm39)	Y185D	probably damaging	Het
Lama4	A	G	10: 38,936,218 (GRCm39)	N631S	possibly damaging	Het
Lama5	T	G	2: 179,819,872 (GRCm39)		probably null	Het
Lamc1	A	C	1: 153,138,185 (GRCm39)	L223R	probably damaging	Het
Lgr4	G	A	2: 109,828,010 (GRCm39)		probably null	Het
Loxhd1	T	C	18: 77,427,196 (GRCm39)	L398P	probably damaging	Het
Marchf6	T	C	15: 31,469,678 (GRCm39)		probably benign	Het
Mlxipl	G	A	5: 135,162,043 (GRCm39)		probably benign	Het
Mrgbp	C	A	2: 180,225,231 (GRCm39)	D62E	probably benign	Het
Mtap	A	T	4: 89,070,235 (GRCm39)		probably benign	Het
Myt1	G	A	2: 181,443,664 (GRCm39)	G497S	probably damaging	Het
Naa25	T	G	5: 121,545,247 (GRCm39)		probably benign	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nkpd1	T	C	7: 19,253,852 (GRCm39)	C73R	probably benign	Het
Nup210l	T	C	3: 90,027,218 (GRCm39)	I200T	probably damaging	Het
Nvl	C	A	1: 180,941,698 (GRCm39)	D581Y	probably damaging	Het
Or51a6	T	C	7: 102,604,185 (GRCm39)	M208V	probably benign	Het
Or51f2	T	C	7: 102,527,068 (GRCm39)	V247A	probably benign	Het
Or5t17	T	A	2: 86,832,710 (GRCm39)	Y132*	probably null	Het
Or8b1c	A	G	9: 38,384,612 (GRCm39)	T190A	probably benign	Het
Or9q1	T	C	19: 13,805,050 (GRCm39)	T237A	probably damaging	Het
Pcdh7	G	T	5: 58,070,590 (GRCm39)	E1089D	probably benign	Het
Pik3cd	A	G	4: 149,740,836 (GRCm39)		probably null	Het
Plekhh2	A	T	17: 84,864,820 (GRCm39)	K69N	probably damaging	Het
Ptgdr2	G	A	19: 10,917,792 (GRCm39)	C103Y	probably damaging	Het
Rrad	A	C	8: 105,355,299 (GRCm39)	H236Q	probably benign	Het
Rslcan18	C	T	13: 67,246,533 (GRCm39)	A236T	probably benign	Het
Ryr2	C	A	13: 11,839,265 (GRCm39)	D503Y	probably damaging	Het
Siglec1	T	C	2: 130,916,980 (GRCm39)	T1092A	probably benign	Het
Siglecf	A	G	7: 43,005,350 (GRCm39)	T437A	probably benign	Het
Spta1	A	T	1: 174,032,839 (GRCm39)	Q965H	probably damaging	Het
Stk10	A	T	11: 32,539,460 (GRCm39)	E280V	probably benign	Het
Tfg	T	C	16: 56,511,351 (GRCm39)	Y326C	possibly damaging	Het
Tpp2	T	A	1: 43,999,299 (GRCm39)	S358T	possibly damaging	Het
Trim25	G	T	11: 88,906,598 (GRCm39)	V437L	probably benign	Het
Ttn	T	C	2: 76,574,027 (GRCm39)	D25622G	probably damaging	Het
Ube3b	T	A	5: 114,536,912 (GRCm39)	S303R	probably benign	Het
Ush2a	T	A	1: 188,310,688 (GRCm39)	V2088D	probably damaging	Het
Vmn2r103	A	G	17: 20,032,241 (GRCm39)	T672A	probably damaging	Het
Wdr11	G	T	7: 129,200,785 (GRCm39)	G79C	probably damaging	Het
Wdr89	T	A	12: 75,679,367 (GRCm39)	T296S	probably benign	Het
Zdhhc24	T	A	19: 4,930,402 (GRCm39)	L179M	possibly damaging	Het
Zfp981	T	C	4: 146,622,217 (GRCm39)	C381R	probably damaging	Het
Zim1	A	G	7: 6,679,947 (GRCm39)	I572T	probably benign	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
R0610:Mapk9	UTSW	11	49,754,400 (GRCm39)	missense	probably benign	0.00
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'- TGCACTAGGATGCTTTGGTAACAACC -3'
(R):5'- CCCATCTACCCTGTGACGAGGAATTG -3'

Sequencing Primer
(F):5'- GCTTTGGTAACAACCATAGTAATGAG -3'
(R):5'- gtacaaagcatagagcaagatcc -3'

Posted On

2013-05-09