Mutagenetix > Incidental Mutation

Incidental Mutation 'R7075:Dusp9'

549195

Institutional Source

Beutler Lab

Gene Symbol

Dusp9

Ensembl Gene

ENSMUSG00000031383

Gene Name

dual specificity phosphatase 9

Synonyms

Mpk4, Pyst3

MMRRC Submission

045170-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

R7075 (G1)

Quality Score

214.459

Status

Not 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: 98.9%

Validation Efficiency

95% (60/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp1	A	T	12: 85,325,782 (GRCm39)	H72Q	unknown	Het
Afmid	T	A	11: 117,726,531 (GRCm39)	D218E	probably benign	Het
Ankhd1	T	C	18: 36,693,042 (GRCm39)	V1A		Het
Atf7ip	T	C	6: 136,573,513 (GRCm39)		probably null	Het
BC024139	C	T	15: 76,008,599 (GRCm39)	V326I	probably benign	Het
Bfsp1	T	A	2: 143,690,885 (GRCm39)	Q159L	probably damaging	Het
Cct2	A	T	10: 116,897,370 (GRCm39)	W125R	unknown	Het
Cnksr3	G	T	10: 7,102,931 (GRCm39)	T147K	probably benign	Het
Colq	C	G	14: 31,274,866 (GRCm39)	G101R	probably damaging	Het
Dlg5	G	T	14: 24,227,865 (GRCm39)	T352K	possibly damaging	Het
Ebna1bp2	T	C	4: 118,479,299 (GRCm39)	V119A	probably benign	Het
Eif2ak4	C	T	2: 118,251,291 (GRCm39)	Q318*	probably null	Het
Eif2b1	G	A	5: 124,709,314 (GRCm39)	T286M	probably damaging	Het
Fam53b	G	T	7: 132,361,352 (GRCm39)	D225E	probably damaging	Het
Fh1	A	G	1: 175,435,421 (GRCm39)	I354T	probably benign	Het
Fnbp1	T	C	2: 30,948,926 (GRCm39)	H206R	probably benign	Het
Gabrg3	A	T	7: 56,973,444 (GRCm39)	D74E	probably damaging	Het
Galnt18	A	T	7: 111,155,595 (GRCm39)	V246E	possibly damaging	Het
Glt6d1	T	C	2: 25,685,292 (GRCm39)	R44G	probably benign	Het
Gm17087	T	C	17: 8,785,635 (GRCm39)	M23V	probably benign	Het
Gpr160	A	T	3: 30,950,926 (GRCm39)	I333L	possibly damaging	Het
Hars1	T	C	18: 36,905,408 (GRCm39)	N142S	possibly damaging	Het
Hmgcll1	T	C	9: 75,963,834 (GRCm39)	V97A	possibly damaging	Het
Itih4	T	G	14: 30,614,560 (GRCm39)	V474G	probably damaging	Het
Itprid2	T	A	2: 79,466,004 (GRCm39)	S41T	probably damaging	Het
Keap1	C	T	9: 21,142,552 (GRCm39)	V568I	probably benign	Het
Kifc5b	A	G	17: 27,144,872 (GRCm39)	M633V	probably benign	Het
Lsm4	A	G	8: 71,130,435 (GRCm39)	E18G	probably damaging	Het
Meox1	T	A	11: 101,784,569 (GRCm39)	Q88L	probably damaging	Het
Mettl25	T	C	10: 105,665,785 (GRCm39)	N147S	possibly damaging	Het
Mphosph9	A	C	5: 124,458,922 (GRCm39)	W83G	probably damaging	Het
Or1j15	T	C	2: 36,459,192 (GRCm39)	I194T	probably benign	Het
Or5ak22	T	C	2: 85,230,544 (GRCm39)	D111G	probably damaging	Het
Or7e170	T	A	9: 19,795,359 (GRCm39)	M81L	probably benign	Het
Or8b4	T	C	9: 37,830,370 (GRCm39)	V139A	probably benign	Het
Or8h8	T	G	2: 86,752,990 (GRCm39)	K295N	possibly damaging	Het
Or9g4	T	A	2: 85,505,168 (GRCm39)	Y109F		Het
Otogl	G	T	10: 107,614,790 (GRCm39)	T1954K	probably benign	Het
Padi2	T	C	4: 140,660,528 (GRCm39)	V336A	probably damaging	Het
Phf21a	C	T	2: 92,190,724 (GRCm39)	Q675*	probably null	Het
Ppip5k1	T	C	2: 121,152,231 (GRCm39)	E1092G	probably damaging	Het
Psg21	T	C	7: 18,388,786 (GRCm39)	N102S	probably damaging	Het
Ralgapa1	C	A	12: 55,867,508 (GRCm39)	Q15H	possibly damaging	Het
Rbm26	A	T	14: 105,398,043 (GRCm39)	D26E	unknown	Het
Rbp4	T	C	19: 38,112,509 (GRCm39)	Y152C	probably damaging	Het
Recql4	A	G	15: 76,590,624 (GRCm39)	V646A	possibly damaging	Het
Rnf220	A	T	4: 117,143,079 (GRCm39)	M63K	probably benign	Het
Selenok	T	C	14: 29,692,024 (GRCm39)	S21P	probably damaging	Het
Senp1	A	G	15: 97,956,207 (GRCm39)	V404A	probably benign	Het
Sh3yl1	A	G	12: 30,990,165 (GRCm39)		probably null	Het
Snx32	A	G	19: 5,547,018 (GRCm39)	L275P	probably damaging	Het
Stat5a	T	C	11: 100,770,519 (GRCm39)	V519A	possibly damaging	Het
Tbc1d10b	A	T	7: 126,802,410 (GRCm39)	V388E	possibly damaging	Het
Tdrd6	A	G	17: 43,936,065 (GRCm39)	V1661A	probably benign	Het
Tmem63a	T	A	1: 180,788,714 (GRCm39)	F350L	probably damaging	Het
Trio	A	T	15: 27,898,086 (GRCm39)	I401K	unknown	Het
Ttn	T	C	2: 76,547,173 (GRCm39)	E32291G	probably damaging	Het
Tubgcp5	G	T	7: 55,479,155 (GRCm39)	V1002L	probably benign	Het
Vav3	C	T	3: 109,433,240 (GRCm39)	T410I	possibly damaging	Het
Vmn1r1	A	T	1: 181,985,597 (GRCm39)	F23I	probably benign	Het
Vmn2r84	T	A	10: 130,226,941 (GRCm39)	Q299L	probably damaging	Het
Vmn2r85	T	A	10: 130,258,557 (GRCm39)	E499D	probably benign	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
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
R9241: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'- ACCATGGAGAGTCTGAGTCG -3'
(R):5'- ACCCTCACTTACCCTGTAGG -3'

Sequencing Primer
(F):5'- AGAGTCTGAGTCGGTCATGCC -3'
(R):5'- CCCTGTAGGTAGTATGCTGGG -3'

Posted On

2019-05-15