Mutagenetix > Incidental Mutation

Incidental Mutation 'R9241:Dusp9'

700774

Institutional Source

Beutler Lab

Gene Symbol

Dusp9

Ensembl Gene

ENSMUSG00000031383

Gene Name

dual specificity phosphatase 9

Synonyms

Mpk4, Pyst3

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R9241 (G1)

Quality Score

204.459

Status

Validated

Chromosome

Chromosomal Location

72683025-72687120 bp(+) (GRCm39)

Type of Mutation

small deletion (16 aa in frame mutation)

DNA Base Change (assembly)

TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG to TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG at 72684217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000019701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019701]

AlphaFold

Q7TNL7

Predicted Effect

probably benign
Transcript: ENSMUST00000019701

SMART Domains

Protein: ENSMUSP00000019701
Gene: ENSMUSG00000031383

Domain	Start	End	E-Value	Type
RHOD	8	204	2.51e-9	SMART
low complexity region	236	249	N/A	INTRINSIC
DSPc	271	411	6.09e-67	SMART

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (51/52)

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 dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product shows selectivity for members of the ERK family of MAP kinases and is localized to the cytoplasm and nucleus. Aberrant expression of this gene is associated with type 2 diabetes and cancer progression in several cell types. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Hemizygous null male and heterozygous null female mice display embryonic lethality during organogenesis with abnormal placental labyrinth morphology when the allele is maternally inherited. Tetraploid rescue produces viable heterozygous and hemizygous mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	A	G	8: 117,697,937 (GRCm39)	L390P	probably damaging	Het
AL732309.1	T	A	2: 25,135,919 (GRCm39)	E98D	possibly damaging	Het
Aldh2	T	C	5: 121,710,220 (GRCm39)	I372V	probably benign	Het
Amph	G	T	13: 19,278,972 (GRCm39)	R149L	probably damaging	Het
Ano6	T	C	15: 95,688,887 (GRCm39)	V8A	probably benign	Het
Aox4	T	A	1: 58,291,345 (GRCm39)	V821E	probably damaging	Het
Baz2b	T	A	2: 59,743,993 (GRCm39)	Q1504L	probably benign	Het
Cdcp1	C	A	9: 123,014,301 (GRCm39)	G158W	probably damaging	Het
Cryge	T	G	1: 65,088,018 (GRCm39)	D97A	possibly damaging	Het
Dyrk1b	A	G	7: 27,886,058 (GRCm39)	T594A	probably benign	Het
Emilin3	T	C	2: 160,750,177 (GRCm39)	D477G	possibly damaging	Het
Fat2	T	C	11: 55,147,566 (GRCm39)	H3892R	probably benign	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gm9922	A	T	14: 101,967,220 (GRCm39)	S11T	unknown	Het
Hcfc2	T	C	10: 82,568,485 (GRCm39)	V43A	probably benign	Het
Hcn1	T	C	13: 117,793,249 (GRCm39)	F167S	probably benign	Het
Jag1	T	C	2: 136,926,507 (GRCm39)	I1012M	probably damaging	Het
Kash5	A	G	7: 44,833,313 (GRCm39)	I603T	probably benign	Het
Lepr	G	T	4: 101,671,788 (GRCm39)	M937I	probably benign	Het
Macf1	T	C	4: 123,271,952 (GRCm39)	D6532G	probably damaging	Het
Mapk13	A	T	17: 28,990,187 (GRCm39)	D102V	probably damaging	Het
Mapt	A	T	11: 104,189,797 (GRCm39)	T272S	probably benign	Het
Mfap3	A	G	11: 57,420,672 (GRCm39)	T218A	probably damaging	Het
Mki67	A	T	7: 135,297,653 (GRCm39)	H2460Q	possibly damaging	Het
Nalcn	G	T	14: 123,809,429 (GRCm39)	P241Q	probably benign	Het
Nup50	A	G	15: 84,822,611 (GRCm39)	T378A	possibly damaging	Het
Oprl1	C	T	2: 181,360,405 (GRCm39)	R154C	probably damaging	Het
Or2n1e	A	G	17: 38,585,781 (GRCm39)	M40V	probably benign	Het
Pcdha8	C	T	18: 37,127,008 (GRCm39)	R497W	probably damaging	Het
Pik3c2a	A	G	7: 116,017,115 (GRCm39)	V214A	probably benign	Het
Plekha5	T	C	6: 140,525,204 (GRCm39)		probably null	Het
Pole3	A	G	4: 62,442,845 (GRCm39)		probably benign	Het
Prkn	A	T	17: 11,456,382 (GRCm39)	I69L	probably benign	Het
Psd3	G	T	8: 68,415,967 (GRCm39)	N357K	probably benign	Het
Psme4	A	T	11: 30,815,576 (GRCm39)	D1696V	probably damaging	Het
Reln	C	T	5: 22,174,067 (GRCm39)	R2012Q	probably damaging	Het
Saxo2	T	C	7: 82,284,250 (GRCm39)	T203A	probably benign	Het
Scgb1a1	T	C	19: 9,065,293 (GRCm39)		probably benign	Het
Selplg	T	A	5: 113,957,647 (GRCm39)	N220Y	possibly damaging	Het
Septin9	C	A	11: 117,109,724 (GRCm39)	R15S	probably benign	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Smarca4	T	G	9: 21,550,604 (GRCm39)	S446A	possibly damaging	Het
Smc1b	T	C	15: 84,976,209 (GRCm39)	N833D	probably benign	Het
Son	T	A	16: 91,454,122 (GRCm39)	D956E	probably damaging	Het
Sorl1	A	T	9: 41,885,420 (GRCm39)	Y2060*	probably null	Het
Tesmin	T	C	19: 3,439,010 (GRCm39)	F21L	probably benign	Het
Tmem200c	G	T	17: 69,144,161 (GRCm39)		probably benign	Het
Tnk2	A	C	16: 32,488,916 (GRCm39)	D252A	probably damaging	Het
Tpcn1	C	T	5: 120,691,558 (GRCm39)	V299I	probably benign	Het
Trpv1	A	G	11: 73,151,182 (GRCm39)	N790S	probably benign	Het
Zfhx4	C	T	3: 5,308,697 (GRCm39)	T641I	probably damaging	Het
Zfp563	A	T	17: 33,321,520 (GRCm39)	Q45L	probably benign	Het
Zswim9	A	T	7: 13,003,360 (GRCm39)	D163E	probably damaging	Het

Other mutations in Dusp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02968:Dusp9	APN	X	72,685,039 (GRCm39)	missense	probably benign	0.00
R4654:Dusp9	UTSW	X	72,684,378 (GRCm39)	missense	probably benign	0.31
R7075:Dusp9	UTSW	X	72,684,217 (GRCm39)	small deletion	probably benign
R7389:Dusp9	UTSW	X	72,684,217 (GRCm39)	small deletion	probably benign
R7412:Dusp9	UTSW	X	72,684,217 (GRCm39)	small deletion	probably benign
R7930:Dusp9	UTSW	X	72,684,128 (GRCm39)	small deletion	probably benign
R7958:Dusp9	UTSW	X	72,684,217 (GRCm39)	small deletion	probably benign
R8228:Dusp9	UTSW	X	72,684,217 (GRCm39)	small deletion	probably benign
R8258:Dusp9	UTSW	X	72,684,217 (GRCm39)	small deletion	probably benign
R8334:Dusp9	UTSW	X	72,684,217 (GRCm39)	small deletion	probably benign
R8970:Dusp9	UTSW	X	72,684,217 (GRCm39)	small deletion	probably benign
R9010:Dusp9	UTSW	X	72,684,217 (GRCm39)	small deletion	probably benign
R9140:Dusp9	UTSW	X	72,684,217 (GRCm39)	small deletion	probably benign
R9173:Dusp9	UTSW	X	72,684,217 (GRCm39)	small deletion	probably benign
R9359:Dusp9	UTSW	X	72,684,217 (GRCm39)	small deletion	probably benign
R9373:Dusp9	UTSW	X	72,684,217 (GRCm39)	small deletion	probably benign
R9474:Dusp9	UTSW	X	72,684,217 (GRCm39)	small deletion	probably benign
R9548:Dusp9	UTSW	X	72,684,217 (GRCm39)	small deletion	probably benign
R9780:Dusp9	UTSW	X	72,684,217 (GRCm39)	small deletion	probably benign
RF030:Dusp9	UTSW	X	72,684,217 (GRCm39)	small deletion	probably benign
RF039:Dusp9	UTSW	X	72,684,217 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAGTCTGAGTCGGTCATGC -3'
(R):5'- AGGATCTTTTCTCCTGACCTGAGG -3'

Sequencing Primer
(F):5'- AGCTGTATGAGTCGGCGC -3'
(R):5'- TCCAGAGTGCTCTCTCAGG -3'

Posted On

2022-02-07