Mutagenetix > Incidental Mutation

Incidental Mutation 'R0681:Mapk9'

60973

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

038866-MU

Accession Numbers

Essential gene?

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

Stock #

R0681 (G1)

Quality Score

109

Status

Validated

Chromosome

Chromosomal Location

49737578-49777248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49760072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 129 (S129T)

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 damaging
Transcript: ENSMUST00000020634
AA Change: S129T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000020634
Gene: ENSMUSG00000020366
AA Change: S129T

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 damaging
Transcript: ENSMUST00000043321
AA Change: S129T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000042744
Gene: ENSMUSG00000020366
AA Change: S129T

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 damaging
Transcript: ENSMUST00000102778
AA Change: S129T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099839
Gene: ENSMUSG00000020366
AA Change: S129T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109178
AA Change: S129T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104807
Gene: ENSMUSG00000020366
AA Change: S129T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109179
AA Change: S129T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104808
Gene: ENSMUSG00000020366
AA Change: S129T

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 damaging
Transcript: ENSMUST00000178543
AA Change: S129T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000136977
Gene: ENSMUSG00000020366
AA Change: S129T

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 damaging
Transcript: ENSMUST00000164643
AA Change: S129T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000132864
Gene: ENSMUSG00000020366
AA Change: S129T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151695

Meta Mutation Damage Score

0.4184

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.3%

Validation Efficiency

100% (68/68)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	G	T	8: 84,661,279 (GRCm39)		probably benign	Het
Adgrv1	C	A	13: 81,676,649 (GRCm39)	D1341Y	probably damaging	Het
Ahdc1	T	C	4: 132,792,827 (GRCm39)	F1356S	possibly damaging	Het
Cdk13	A	G	13: 17,895,882 (GRCm39)		probably benign	Het
Cfhr1	A	T	1: 139,485,249 (GRCm39)	S66T	probably damaging	Het
Cldn6	C	A	17: 23,900,167 (GRCm39)	Q44K	probably damaging	Het
Cntnap5c	T	C	17: 58,612,550 (GRCm39)	V863A	possibly damaging	Het
Col6a4	T	A	9: 105,944,343 (GRCm39)	K1044*	probably null	Het
Cyb561d1	A	G	3: 108,106,583 (GRCm39)	V212A	probably benign	Het
Cyp1b1	A	G	17: 80,021,275 (GRCm39)	S156P	probably damaging	Het
Dock7	G	A	4: 98,904,941 (GRCm39)	H645Y	probably damaging	Het
Dpp3	T	C	19: 4,964,682 (GRCm39)	N542D	probably damaging	Het
Fastkd3	C	T	13: 68,740,047 (GRCm39)		probably benign	Het
Galnt10	T	A	11: 57,660,366 (GRCm39)	V268D	probably damaging	Het
Grb14	G	T	2: 64,747,631 (GRCm39)	A10E	probably damaging	Het
Grin2c	A	G	11: 115,140,479 (GRCm39)	V1213A	probably benign	Het
Grip1	C	T	10: 119,846,135 (GRCm39)	T570I	probably damaging	Het
Hif1an	T	C	19: 44,551,762 (GRCm39)	Y71H	probably benign	Het
Hsd17b11	T	A	5: 104,151,072 (GRCm39)	I221L	probably benign	Het
Htra1	A	T	7: 130,581,027 (GRCm39)		probably benign	Het
Igfn1	T	C	1: 135,891,591 (GRCm39)	E2308G	possibly damaging	Het
Med22	T	C	2: 26,800,391 (GRCm39)	T13A	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mtus1	A	T	8: 41,446,554 (GRCm39)	L489Q	probably damaging	Het
Naprt	G	A	15: 75,765,481 (GRCm39)	P120S	probably damaging	Het
Nwd1	C	T	8: 73,388,965 (GRCm39)	P172L	probably damaging	Het
Ogfod2	A	G	5: 124,250,907 (GRCm39)	E62G	probably null	Het
Or13a1	A	T	6: 116,471,361 (GRCm39)	S264C	probably damaging	Het
Or5b12b	A	G	19: 12,861,910 (GRCm39)	T222A	probably damaging	Het
Or5b12b	T	C	19: 12,861,443 (GRCm39)	L66P	probably damaging	Het
Palm	A	C	10: 79,655,327 (GRCm39)	T362P	probably benign	Het
Pcare	T	G	17: 72,056,509 (GRCm39)	H1056P	probably benign	Het
Pcdh8	T	C	14: 80,007,400 (GRCm39)	T388A	probably benign	Het
Pclo	A	G	5: 14,725,332 (GRCm39)	I1397V	unknown	Het
Per1	A	G	11: 68,992,027 (GRCm39)	E127G	probably damaging	Het
Plekha1	T	C	7: 130,502,353 (GRCm39)	V30A	possibly damaging	Het
Pramel24	A	T	4: 143,454,622 (GRCm39)	T307S	probably benign	Het
Rab26	A	G	17: 24,746,940 (GRCm39)		probably benign	Het
Rasal2	T	C	1: 156,984,750 (GRCm39)	D999G	possibly damaging	Het
Rfx5	C	T	3: 94,863,666 (GRCm39)	T105I	probably damaging	Het
Rrp1b	T	C	17: 32,279,369 (GRCm39)	S677P	probably damaging	Het
Scaf4	G	A	16: 90,046,582 (GRCm39)	P485S	unknown	Het
Scn5a	A	T	9: 119,368,706 (GRCm39)	M273K	probably damaging	Het
Sec22a	C	T	16: 35,181,926 (GRCm39)		probably null	Het
Slc10a6	C	A	5: 103,760,315 (GRCm39)	V227F	possibly damaging	Het
Slc39a3	C	G	10: 80,869,565 (GRCm39)	E31Q	probably benign	Het
Spsb1	C	T	4: 149,991,374 (GRCm39)	V65I	probably benign	Het
Tdrd7	T	A	4: 46,016,879 (GRCm39)	M673K	probably benign	Het
Trim8	C	A	19: 46,503,532 (GRCm39)	S361R	possibly damaging	Het
Ucp1	T	A	8: 84,021,936 (GRCm39)	M256K	possibly damaging	Het
Vmn1r46	A	T	6: 89,953,946 (GRCm39)	D265V	probably damaging	Het
Zbtb5	T	C	4: 44,993,787 (GRCm39)	I532M	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
R0610:Mapk9	UTSW	11	49,754,400 (GRCm39)	missense	probably benign	0.00
R0676:Mapk9	UTSW	11	49,773,983 (GRCm39)	makesense	probably null
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'- GCAGCCCTGCCAGAATCATGTATTG -3'
(R):5'- ACTGACCTCGTGGCCTTTAAACAC -3'

Sequencing Primer
(F):5'- TCTACAGCAGCATGGTATAGATG -3'
(R):5'- GTGGCCTTTAAACACACATGAATAAG -3'

Posted On

2013-07-30