Mutagenetix > Incidental Mutation

Incidental Mutation 'R7412:Dusp9'

575191

Institutional Source

Beutler Lab

Gene Symbol

Dusp9

Ensembl Gene

ENSMUSG00000031383

Gene Name

dual specificity phosphatase 9

Synonyms

Mpk4, Pyst3

MMRRC Submission

045493-MU

Accession Numbers

Essential gene?

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

Stock #

R7412 (G1)

Quality Score

171.492

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (71/73)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,448,691 (GRCm39)	Y335*	probably null	Het
Alpk1	A	T	3: 127,466,143 (GRCm39)	L1121Q	probably damaging	Het
Alpk1	A	G	3: 127,489,382 (GRCm39)	I99T	probably damaging	Het
Ap2a2	T	A	7: 141,206,049 (GRCm39)	F717I	probably damaging	Het
Arhgap33	C	T	7: 30,222,477 (GRCm39)	D1152N	probably benign	Het
Arvcf	A	G	16: 18,220,350 (GRCm39)	D642G	probably benign	Het
Astn1	T	G	1: 158,329,919 (GRCm39)	M258R	probably damaging	Het
Brinp3	C	G	1: 146,777,748 (GRCm39)	L732V	possibly damaging	Het
Carmil1	T	C	13: 24,282,793 (GRCm39)	D547G	possibly damaging	Het
Ccdc177	A	G	12: 80,805,792 (GRCm39)	F161L	possibly damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cnot10	A	G	9: 114,454,971 (GRCm39)	Y221H	probably damaging	Het
Col6a3	T	A	1: 90,755,855 (GRCm39)	I145F	probably damaging	Het
Crybg2	A	G	4: 133,801,434 (GRCm39)	T865A	probably benign	Het
Cyp4f37	A	G	17: 32,848,818 (GRCm39)	S229G	possibly damaging	Het
Ddx56	G	A	11: 6,211,720 (GRCm39)	T462I	probably damaging	Het
Dhx30	T	C	9: 109,921,966 (GRCm39)	M239V	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Ephb6	A	G	6: 41,597,173 (GRCm39)	K994E	probably damaging	Het
Fam83a	A	C	15: 57,849,821 (GRCm39)	T122P	probably benign	Het
Fbxo24	C	A	5: 137,617,885 (GRCm39)	C293F	possibly damaging	Het
Fech	A	T	18: 64,591,255 (GRCm39)	S390T	probably benign	Het
Fras1	A	G	5: 96,762,748 (GRCm39)	H750R	probably benign	Het
Frmpd2	A	G	14: 33,293,926 (GRCm39)	D1364G	probably benign	Het
Ganab	T	C	19: 8,889,892 (GRCm39)	I652T	probably benign	Het
Gm21103	T	A	14: 17,482,943 (GRCm39)	T153S	probably benign	Het
Gm21886	GGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGTTAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG	GGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG	18: 80,132,967 (GRCm39)		probably benign	Het
Gm5799	A	G	14: 43,781,995 (GRCm39)	I56V	possibly damaging	Het
Gm7276	T	C	18: 77,273,183 (GRCm39)	R184G	unknown	Het
Gmip	T	G	8: 70,273,149 (GRCm39)	D845E	probably benign	Het
Hspa9	T	C	18: 35,082,082 (GRCm39)	K175E	probably damaging	Het
Ipo13	A	G	4: 117,752,068 (GRCm39)	F890L	probably benign	Het
Irag1	A	T	7: 110,522,963 (GRCm39)	V160D	probably benign	Het
Klrb1f	C	T	6: 129,033,308 (GRCm39)	R179*	probably null	Het
Nasp	A	G	4: 116,467,785 (GRCm39)	V400A	possibly damaging	Het
Ncoa7	T	A	10: 30,598,847 (GRCm39)	K25N	possibly damaging	Het
Ndrg1	A	C	15: 66,832,382 (GRCm39)	M1R	probably null	Het
Nf1	G	A	11: 79,364,240 (GRCm39)	A1557T	probably damaging	Het
Nrde2	G	A	12: 100,108,509 (GRCm39)	Q361*	probably null	Het
Opn1sw	A	T	6: 29,379,856 (GRCm39)	L126Q	probably damaging	Het
Or10ak16	A	T	4: 118,750,327 (GRCm39)	I16F	possibly damaging	Het
Or1af1	C	T	2: 37,109,774 (GRCm39)	T91I	possibly damaging	Het
Or1j4	T	C	2: 36,740,478 (GRCm39)	L140P	probably benign	Het
Or5au1	A	T	14: 52,273,310 (GRCm39)	L86*	probably null	Het
Or7g17	A	T	9: 18,768,085 (GRCm39)	I46F	possibly damaging	Het
Or8g50	T	C	9: 39,648,422 (GRCm39)	F104L	probably benign	Het
Osmr	A	G	15: 6,853,048 (GRCm39)	Y616H	probably damaging	Het
Pagr1a	T	C	7: 126,615,736 (GRCm39)	T120A	probably benign	Het
Patj	A	G	4: 98,299,376 (GRCm39)	E166G	probably damaging	Het
Plk4	G	A	3: 40,766,613 (GRCm39)	V764I	probably benign	Het
Polr3h	G	A	15: 81,800,602 (GRCm39)		probably null	Het
Ptprb	T	A	10: 116,177,043 (GRCm39)	D989E	probably benign	Het
Sdk2	A	T	11: 113,758,909 (GRCm39)		probably null	Het
Setd1b	C	A	5: 123,290,639 (GRCm39)	R869S	unknown	Het
Sgcz	T	C	8: 37,990,565 (GRCm39)	I263V	probably benign	Het
Skint8	G	A	4: 111,785,758 (GRCm39)	G68D	probably benign	Het
Slc22a7	A	T	17: 46,745,553 (GRCm39)	V326E	probably benign	Het
Slc39a1	T	G	3: 90,156,396 (GRCm39)	L38R	probably damaging	Het
Slc4a4	A	G	5: 89,362,506 (GRCm39)		probably null	Het
Sptlc3	A	G	2: 139,431,537 (GRCm39)	E353G	possibly damaging	Het
Ssh2	G	T	11: 77,340,934 (GRCm39)	L695F	probably damaging	Het
Tacr2	C	A	10: 62,097,427 (GRCm39)	Y302*	probably null	Het
Tas2r117	T	C	6: 132,780,192 (GRCm39)	L110P	probably damaging	Het
Tex9	A	T	9: 72,394,060 (GRCm39)		probably null	Het
Tmem17	A	T	11: 22,468,645 (GRCm39)	T195S	probably benign	Het
Trcg1	T	A	9: 57,148,766 (GRCm39)	S113T	probably benign	Het
Trpa1	A	T	1: 14,954,422 (GRCm39)	F826I	probably benign	Het
Usp17lc	A	G	7: 103,067,575 (GRCm39)	Y290C	probably damaging	Het
Vmn2r32	T	A	7: 7,477,212 (GRCm39)	D393V	possibly damaging	Het
Wdfy4	A	G	14: 32,871,541 (GRCm39)	L290P		Het
Xpnpep1	G	C	19: 52,994,722 (GRCm39)	A302G	probably benign	Het
Xrn2	T	C	2: 146,891,266 (GRCm39)	L692P	probably damaging	Het
Zgrf1	A	G	3: 127,356,720 (GRCm39)	S649G	probably benign	Het
Zscan4b	C	T	7: 10,634,791 (GRCm39)	C484Y	probably damaging	Het
Zscan4b	T	C	7: 10,635,820 (GRCm39)	D169G	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
R7075:Dusp9	UTSW	X	72,684,217 (GRCm39)	small deletion	probably benign
R7389: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'- AGAGTCTGAGTCGGTCATGC -3'
(R):5'- TGACCCTCACTTACCCTGTAGG -3'

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

Posted On

2019-10-07