Mutagenetix > Incidental Mutation

Incidental Mutation 'R1611:Dusp8'

256135

Institutional Source

Beutler Lab

Gene Symbol

Dusp8

Ensembl Gene

ENSMUSG00000037887

Gene Name

dual specificity phosphatase 8

Synonyms

Nttp1, 5530400B01Rik

MMRRC Submission

039648-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R1611 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

141633227-141649580 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141636694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 299 (S299G)

Ref Sequence

ENSEMBL: ENSMUSP00000049414 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039926] [ENSMUST00000143661]

AlphaFold

O09112

Predicted Effect

probably benign
Transcript: ENSMUST00000039926
AA Change: S299G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000049414
Gene: ENSMUSG00000037887
AA Change: S299G

Domain	Start	End	E-Value	Type
RHOD	13	135	4.71e-14	SMART
DSPc	160	299	3.6e-69	SMART
low complexity region	334	353	N/A	INTRINSIC
low complexity region	360	371	N/A	INTRINSIC
low complexity region	405	422	N/A	INTRINSIC
low complexity region	427	449	N/A	INTRINSIC
low complexity region	452	470	N/A	INTRINSIC
low complexity region	488	512	N/A	INTRINSIC
low complexity region	546	600	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104221

Predicted Effect

probably benign
Transcript: ENSMUST00000143661

SMART Domains

Protein: ENSMUSP00000114307
Gene: ENSMUSG00000037887

Domain	Start	End	E-Value	Type
RHOD	13	135	4.71e-14	SMART
Pfam:DSPc	168	231	1.5e-9	PFAM

Meta Mutation Damage Score

0.1018

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 88.9%

Validation Efficiency

97% (75/77)

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 inactivates SAPK/JNK and p38, is expressed predominantly in the adult brain, heart, and skeletal muscle, is localized in the cytoplasm, and is induced by nerve growth factor and insulin. An intronless pseudogene for DUSP8 is present on chromosome 10q11.2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered myocardial fiber morphology, mildly increased cardiac muscle contractility at baseline, and decreased response of heart to induced stress. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	T	11: 54,216,390 (GRCm39)	I186F	possibly damaging	Het
Actr6	T	A	10: 89,568,064 (GRCm39)	K14*	probably null	Het
Adgrv1	A	T	13: 81,707,236 (GRCm39)	V1390E	probably damaging	Het
Akap1	C	T	11: 88,736,104 (GRCm39)	R186K	probably benign	Het
Alg10b	T	A	15: 90,109,984 (GRCm39)	V99D	probably damaging	Het
Atp2c1	C	T	9: 105,320,051 (GRCm39)	G407S	probably damaging	Het
Atp9a	T	C	2: 168,515,489 (GRCm39)	M401V	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bclaf1	T	C	10: 20,198,998 (GRCm39)		probably benign	Het
Bcr	T	A	10: 74,961,034 (GRCm39)		probably null	Het
Bivm	T	C	1: 44,165,907 (GRCm39)	I119T	possibly damaging	Het
Cacna1h	A	G	17: 25,600,445 (GRCm39)	I1632T	probably damaging	Het
Capn9	G	A	8: 125,338,251 (GRCm39)	V537M	possibly damaging	Het
Cdk11b	G	A	4: 155,726,032 (GRCm39)		probably benign	Het
Cdk18	T	A	1: 132,050,113 (GRCm39)	I21F	probably damaging	Het
Cep85l	T	C	10: 53,224,777 (GRCm39)	T271A	probably benign	Het
Chrm5	T	C	2: 112,309,532 (GRCm39)	N528S	possibly damaging	Het
Cpsf6	T	A	10: 117,197,733 (GRCm39)		probably benign	Het
Cpt1c	T	C	7: 44,609,536 (GRCm39)	T689A	probably benign	Het
D030068K23Rik	T	C	8: 109,975,935 (GRCm39)	Y64C	unknown	Het
Ddb1	T	A	19: 10,604,128 (GRCm39)		probably null	Het
Ddb1	T	A	19: 10,590,252 (GRCm39)	C260S	probably damaging	Het
Depdc5	C	A	5: 33,148,297 (GRCm39)	Q1478K	probably damaging	Het
Diaph1	A	C	18: 38,033,755 (GRCm39)	M247R	unknown	Het
Dnai3	T	C	3: 145,801,113 (GRCm39)	Y115C	probably damaging	Het
Erbb4	C	A	1: 68,079,547 (GRCm39)	G1178C	probably damaging	Het
Exoc7	A	T	11: 116,186,091 (GRCm39)	I370N	possibly damaging	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Gm12353	T	A	4: 19,631,843 (GRCm39)	Y27*	probably null	Het
Gnl1	C	T	17: 36,298,441 (GRCm39)	T395I	probably damaging	Het
Hpse2	G	A	19: 42,777,504 (GRCm39)	T554I	probably damaging	Het
Hsd17b11	T	C	5: 104,157,765 (GRCm39)	I116V	probably benign	Het
Inava	G	A	1: 136,143,855 (GRCm39)	P527L	probably damaging	Het
Kif24	A	T	4: 41,423,552 (GRCm39)	V233E	probably benign	Het
Klhl5	A	G	5: 65,321,992 (GRCm39)	T673A	probably benign	Het
Kmt2c	C	A	5: 25,564,309 (GRCm39)		probably null	Het
Lipg	T	C	18: 75,081,130 (GRCm39)	N317S	possibly damaging	Het
Lpin1	A	T	12: 16,627,219 (GRCm39)	L109Q	probably null	Het
Lyst	A	G	13: 13,809,482 (GRCm39)	E384G	probably damaging	Het
Mical2	T	A	7: 111,980,671 (GRCm39)	I105N	probably damaging	Het
Muc4	C	T	16: 32,569,804 (GRCm39)	T288I	possibly damaging	Het
Naa35	G	T	13: 59,776,747 (GRCm39)	R574L	probably benign	Het
Ncor2	T	C	5: 125,187,084 (GRCm39)		probably benign	Het
Nedd9	T	A	13: 41,470,406 (GRCm39)	D249V	probably benign	Het
Nsg1	T	A	5: 38,296,060 (GRCm39)	K38*	probably null	Het
Nup155	T	A	15: 8,159,644 (GRCm39)	D518E	probably damaging	Het
Or5i1	T	A	2: 87,612,968 (GRCm39)	I28N	probably benign	Het
Ovol1	T	A	19: 5,601,098 (GRCm39)	H231L	probably damaging	Het
Parg	A	G	14: 31,960,527 (GRCm39)	I586V	probably damaging	Het
Pde7b	T	C	10: 20,310,236 (GRCm39)	N242S	probably benign	Het
Pias3	T	A	3: 96,607,013 (GRCm39)		probably null	Het
Pramel13	A	T	4: 144,119,382 (GRCm39)	V395E	probably benign	Het
Ptprf	A	G	4: 118,093,430 (GRCm39)	V404A	probably benign	Het
Rigi	T	C	4: 40,223,862 (GRCm39)	Y339C	probably damaging	Het
Rnf145	T	C	11: 44,442,625 (GRCm39)	L259P	probably damaging	Het
Rps6ka5	C	G	12: 100,537,111 (GRCm39)	V540L	possibly damaging	Het
Ryr3	C	T	2: 112,483,850 (GRCm39)	D3966N	possibly damaging	Het
Samd9l	A	T	6: 3,373,771 (GRCm39)	S1163R	probably benign	Het
Serpinb9g	T	C	13: 33,676,857 (GRCm39)	I213T	possibly damaging	Het
Sil1	A	T	18: 35,402,141 (GRCm39)	V331E	possibly damaging	Het
Ski	A	G	4: 155,244,395 (GRCm39)	F410S	probably damaging	Het
Slc25a25	C	T	2: 32,310,391 (GRCm39)	E123K	probably damaging	Het
Slfnl1	A	G	4: 120,390,574 (GRCm39)	E75G	probably benign	Het
Sp1	T	A	15: 102,339,370 (GRCm39)	I436N	probably damaging	Het
Taf4b	A	T	18: 14,977,526 (GRCm39)	E766V	probably null	Het
Tgfbr1	A	G	4: 47,396,526 (GRCm39)	Y180C	probably damaging	Het
Ube4a	T	C	9: 44,868,035 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 64,011,958 (GRCm39)	C606*	probably null	Het
Zfp341	C	A	2: 154,487,623 (GRCm39)	H702Q	probably damaging	Het

Other mutations in Dusp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Dusp8	APN	7	141,638,160 (GRCm39)	missense	probably benign	0.05
IGL02458:Dusp8	APN	7	141,636,484 (GRCm39)	missense	probably benign	0.28
IGL02931:Dusp8	APN	7	141,636,667 (GRCm39)	missense	probably benign	0.00
IGL03329:Dusp8	APN	7	141,638,097 (GRCm39)	nonsense	probably null
R0009:Dusp8	UTSW	7	141,635,791 (GRCm39)	unclassified	probably benign
R1054:Dusp8	UTSW	7	141,635,804 (GRCm39)	unclassified	probably benign
R1883:Dusp8	UTSW	7	141,638,085 (GRCm39)	splice site	probably null
R2119:Dusp8	UTSW	7	141,636,298 (GRCm39)	missense	possibly damaging	0.91
R2326:Dusp8	UTSW	7	141,643,800 (GRCm39)	missense	probably damaging	1.00
R2698:Dusp8	UTSW	7	141,635,701 (GRCm39)	unclassified	probably benign
R2905:Dusp8	UTSW	7	141,637,126 (GRCm39)	nonsense	probably null
R3849:Dusp8	UTSW	7	141,643,802 (GRCm39)	missense	probably damaging	1.00
R4921:Dusp8	UTSW	7	141,635,891 (GRCm39)	unclassified	probably benign
R4942:Dusp8	UTSW	7	141,635,965 (GRCm39)	missense	possibly damaging	0.85
R5288:Dusp8	UTSW	7	141,643,730 (GRCm39)	missense	possibly damaging	0.95
R5385:Dusp8	UTSW	7	141,643,730 (GRCm39)	missense	possibly damaging	0.95
R5386:Dusp8	UTSW	7	141,643,730 (GRCm39)	missense	possibly damaging	0.95
R6301:Dusp8	UTSW	7	141,636,756 (GRCm39)	splice site	probably null
R6520:Dusp8	UTSW	7	141,637,418 (GRCm39)	missense	probably damaging	0.99
R6665:Dusp8	UTSW	7	141,643,842 (GRCm39)	missense	probably damaging	0.97
R9130:Dusp8	UTSW	7	141,642,155 (GRCm39)	missense	probably benign	0.12
RF016:Dusp8	UTSW	7	141,636,589 (GRCm39)	missense	probably benign	0.04
X0064:Dusp8	UTSW	7	141,635,764 (GRCm39)	unclassified	probably benign
Z1176:Dusp8	UTSW	7	141,643,814 (GRCm39)	missense	probably damaging	1.00
Z1176:Dusp8	UTSW	7	141,635,680 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCGACTTGATGTCCAGGGAAAAGG -3'
(R):5'- AGAGCTTGGGGACTTAAAGGTTTGC -3'

Sequencing Primer
(F):5'- ATCGGAGCATCCCCTCCAG -3'
(R):5'- GACTTAAAGGTTTGCTGTGGG -3'

Posted On

2014-12-30