Mutagenetix > Incidental Mutation

Incidental Mutation 'R9140:Dusp9'

694322

Institutional Source

Beutler Lab

Gene Symbol

Dusp9

Ensembl Gene

ENSMUSG00000031383

Gene Name

dual specificity phosphatase 9

Synonyms

Mpk4, Pyst3

MMRRC Submission

068972-MU

Accession Numbers

Essential gene?

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

Stock #

R9140 (G1)

Quality Score

180.466

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: 99.1%

Validation Efficiency

100% (69/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	A	T	17: 33,652,170 (GRCm39)	I77F	possibly damaging	Het
Adgb	G	A	10: 10,216,263 (GRCm39)	R1509*	probably null	Het
Ago1	C	A	4: 126,336,977 (GRCm39)	V547L	probably benign	Het
Arhgap21	T	A	2: 20,886,025 (GRCm39)	Y394F	probably damaging	Het
C1qa	A	C	4: 136,623,553 (GRCm39)	I217S	probably damaging	Het
Cacna1b	T	A	2: 24,525,224 (GRCm39)	I1651F	probably damaging	Het
Car8	T	C	4: 8,183,270 (GRCm39)	T242A	probably benign	Het
Ccdc121rt3	A	T	5: 112,502,723 (GRCm39)	L327Q	probably damaging	Het
Ccn4	G	A	15: 66,791,157 (GRCm39)	V320M	probably damaging	Het
Chrnb4	G	A	9: 54,941,955 (GRCm39)	H440Y		Het
Cic	T	C	7: 24,985,165 (GRCm39)	V1137A	probably damaging	Het
Ctdp1	C	T	18: 80,484,043 (GRCm39)		probably null	Het
Cyp3a16	G	C	5: 145,406,434 (GRCm39)	A6G	unknown	Het
Ddhd1	A	C	14: 45,894,918 (GRCm39)	L184R	probably benign	Het
Dnttip1	A	G	2: 164,596,082 (GRCm39)	D109G	possibly damaging	Het
Dsc3	T	A	18: 20,122,616 (GRCm39)	M103L	probably benign	Het
Elapor2	T	C	5: 9,449,226 (GRCm39)	V118A	probably benign	Het
Eya2	T	C	2: 165,608,977 (GRCm39)	L439S	probably damaging	Het
Eya3	A	G	4: 132,428,411 (GRCm39)	N311S	possibly damaging	Het
Fam151a	C	T	4: 106,605,344 (GRCm39)	R569*	probably null	Het
Fer1l5	A	G	1: 36,460,047 (GRCm39)		probably benign	Het
Fnbp4	A	G	2: 90,576,077 (GRCm39)	T93A	unknown	Het
Fosl2	T	C	5: 32,310,042 (GRCm39)	S164P	probably damaging	Het
Galc	T	C	12: 98,173,673 (GRCm39)	T630A	probably null	Het
Gm5916	G	T	9: 36,031,982 (GRCm39)	Q101K	unknown	Het
Gm7138	A	T	10: 77,612,682 (GRCm39)		probably benign	Het
Habp2	A	G	19: 56,307,934 (GRCm39)	K474R	probably benign	Het
Ibtk	A	G	9: 85,617,114 (GRCm39)	F153L	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Kirrel3	C	T	9: 34,924,596 (GRCm39)	A268V	probably benign	Het
Kprp	G	T	3: 92,732,458 (GRCm39)	Y197*	probably null	Het
Kri1	C	T	9: 21,187,434 (GRCm39)	R471H		Het
Krt17	C	A	11: 100,148,476 (GRCm39)	A322S	possibly damaging	Het
Leng9	A	T	7: 4,152,657 (GRCm39)	D6E	probably benign	Het
Macf1	A	T	4: 123,367,855 (GRCm39)	I2302K	possibly damaging	Het
Manba	G	A	3: 135,191,490 (GRCm39)	V17M	probably benign	Het
Mical2	A	G	7: 112,006,826 (GRCm39)	K582E	probably damaging	Het
Mknk2	A	G	10: 80,507,427 (GRCm39)	V102A	probably benign	Het
Myh1	G	A	11: 67,100,089 (GRCm39)	G636D	probably benign	Het
Or51q1c	A	G	7: 103,653,322 (GRCm39)	N280S	probably damaging	Het
P2rx7	G	A	5: 122,790,789 (GRCm39)		probably null	Het
Pcmt1	A	G	10: 7,514,678 (GRCm39)	*177R	probably null	Het
Pla2r1	T	C	2: 60,271,455 (GRCm39)	K959R	probably benign	Het
Plat	A	G	8: 23,270,562 (GRCm39)	D493G	probably damaging	Het
Prr30	A	G	14: 101,436,430 (GRCm39)	L44P	probably benign	Het
Ptx4	T	C	17: 25,344,180 (GRCm39)	C477R	probably damaging	Het
Pus10	A	G	11: 23,622,625 (GRCm39)	S82G	probably benign	Het
Pygo1	A	G	9: 72,852,988 (GRCm39)	T392A	probably benign	Het
Rad54b	C	A	4: 11,610,386 (GRCm39)	L668I	probably damaging	Het
Rdh19	A	C	10: 127,692,830 (GRCm39)	M166L		Het
Retnlg	C	A	16: 48,693,288 (GRCm39)	Q22K	possibly damaging	Het
Rfc3	G	T	5: 151,568,141 (GRCm39)	T249K	probably benign	Het
Rgs16	T	A	1: 153,619,381 (GRCm39)	V129E	probably damaging	Het
Rptn	T	A	3: 93,303,445 (GRCm39)	Y259*	probably null	Het
Sema6a	T	C	18: 47,415,009 (GRCm39)	N427S	probably benign	Het
Slc7a13	T	C	4: 19,819,487 (GRCm39)	I229T	possibly damaging	Het
Slitrk3	A	T	3: 72,957,792 (GRCm39)	Y327N	probably benign	Het
Smtnl2	A	G	11: 72,290,793 (GRCm39)	L384P	probably damaging	Het
Stil	G	T	4: 114,864,449 (GRCm39)	V117F	probably damaging	Het
Tada1	T	C	1: 166,216,177 (GRCm39)	V126A	probably benign	Het
Tasor2	G	A	13: 3,638,441 (GRCm39)	T430I	probably benign	Het
Tmem30c	T	C	16: 57,090,482 (GRCm39)	I242V	probably damaging	Het
Tnnt2	T	A	1: 135,768,635 (GRCm39)	V8E		Het
Ttn	A	G	2: 76,774,240 (GRCm39)	V2268A	unknown	Het
Uspl1	G	T	5: 149,150,290 (GRCm39)	A497S	possibly damaging	Het
Vmn2r1	A	T	3: 63,997,465 (GRCm39)	N374Y	probably benign	Het
Vmn2r27	A	G	6: 124,169,207 (GRCm39)	F641S	probably damaging	Het
Vmn2r52	T	A	7: 9,892,643 (GRCm39)	Y832F	probably damaging	Het
Zfp748	C	T	13: 67,689,073 (GRCm39)	C729Y	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
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'- AGAGTCTGAGTCGGTCATGC -3'
(R):5'- ACCCTCACTTACCCTGTAGG -3'

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

Posted On

2022-01-20