Mutagenetix > Incidental Mutation

Incidental Mutation 'R2119:Dusp8'

231290

Institutional Source

Beutler Lab

Gene Symbol

Dusp8

Ensembl Gene

ENSMUSG00000037887

Gene Name

dual specificity phosphatase 8

Synonyms

Nttp1, 5530400B01Rik

MMRRC Submission

040123-MU

Accession Numbers

Essential gene?

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

Stock #

R2119 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141633227-141649580 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141636298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 431 (S431T)

Ref Sequence

ENSEMBL: ENSMUSP00000049414 (fasta)

Gene Model

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

AlphaFold

O09112

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039926
AA Change: S431T

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000049414
Gene: ENSMUSG00000037887
AA Change: S431T

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,457,109 (GRCm39)	L143M	possibly damaging	Het
Actbl2	G	A	13: 111,391,694 (GRCm39)	V10I	probably benign	Het
Adamts12	C	T	15: 11,310,665 (GRCm39)	T974I	probably damaging	Het
Aifm2	G	A	10: 61,571,383 (GRCm39)	V306M	possibly damaging	Het
Arhgef38	T	C	3: 132,866,514 (GRCm39)	K208E	probably benign	Het
Atxn7l3	C	A	11: 102,182,807 (GRCm39)	R278L	possibly damaging	Het
Bcl9	A	G	3: 97,116,231 (GRCm39)	L821P	probably benign	Het
Cdh19	C	T	1: 110,847,320 (GRCm39)	V430I	probably benign	Het
Clns1a	T	A	7: 97,363,111 (GRCm39)		probably null	Het
Col3a1	T	A	1: 45,385,281 (GRCm39)	C133S	probably damaging	Het
Csmd1	G	A	8: 17,266,749 (GRCm39)	T59I	probably damaging	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Cyp2j8	A	T	4: 96,395,438 (GRCm39)	D62E	probably benign	Het
Dcbld1	A	T	10: 52,196,075 (GRCm39)	M428L	probably benign	Het
Dhx32	A	T	7: 133,323,976 (GRCm39)	Y523*	probably null	Het
Dlgap2	C	T	8: 14,828,206 (GRCm39)	A538V	possibly damaging	Het
Dlgap3	T	C	4: 127,129,982 (GRCm39)	S919P	probably benign	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dsc1	A	T	18: 20,243,209 (GRCm39)	H81Q	probably benign	Het
Dync1i1	A	T	6: 5,767,096 (GRCm39)	T59S	probably damaging	Het
Ecel1	A	G	1: 87,075,997 (GRCm39)	S727P	probably damaging	Het
Ednrb	T	A	14: 104,059,204 (GRCm39)	D274V	probably benign	Het
Eef1d	G	T	15: 75,775,062 (GRCm39)	A199E	probably benign	Het
Eml3	T	A	19: 8,911,718 (GRCm39)		probably null	Het
Enah	G	T	1: 181,749,318 (GRCm39)	A138E	probably damaging	Het
Fgf18	A	C	11: 33,068,003 (GRCm39)	F129C	probably damaging	Het
Gba1	A	T	3: 89,112,868 (GRCm39)	E170V	probably benign	Het
Hdac1	C	T	4: 129,416,157 (GRCm39)	R212Q	probably benign	Het
Heatr1	T	A	13: 12,447,527 (GRCm39)	L1740Q	probably null	Het
Inhbb	T	A	1: 119,348,431 (GRCm39)	H129L	probably benign	Het
Inpp5b	T	A	4: 124,691,662 (GRCm39)	H862Q	probably benign	Het
Itsn2	C	A	12: 4,757,025 (GRCm39)	R1372S	probably benign	Het
Jaml	T	A	9: 45,012,362 (GRCm39)	I283N	probably damaging	Het
Klk1b21	A	T	7: 43,755,193 (GRCm39)	T163S	probably benign	Het
Lmo3	A	T	6: 138,393,492 (GRCm39)	C43S	probably damaging	Het
Metrn	C	T	17: 26,014,197 (GRCm39)	V210I	probably benign	Het
Ndufaf7	A	T	17: 79,252,442 (GRCm39)	I284F	possibly damaging	Het
Nlrp6	T	C	7: 140,506,357 (GRCm39)	V766A	probably benign	Het
Or10a5	A	G	7: 106,635,938 (GRCm39)	D192G	probably damaging	Het
Osbpl7	T	C	11: 96,946,905 (GRCm39)	S403P	probably benign	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Psmd1	T	A	1: 86,006,422 (GRCm39)	S263T	possibly damaging	Het
Pum1	C	A	4: 130,396,581 (GRCm39)	T112K	possibly damaging	Het
Rasgrp2	T	A	19: 6,454,425 (GRCm39)	M156K	probably benign	Het
Reln	T	A	5: 22,223,998 (GRCm39)	E917V	probably damaging	Het
Rfc4	A	T	16: 22,943,314 (GRCm39)	V61E	probably damaging	Het
Rnf112	C	T	11: 61,341,854 (GRCm39)	V317I	possibly damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Rtn4ip1	A	G	10: 43,811,993 (GRCm39)		probably null	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Scamp5	C	A	9: 57,354,508 (GRCm39)	V49F	possibly damaging	Het
Serhl	A	G	15: 82,999,776 (GRCm39)	Q252R	probably benign	Het
Sestd1	T	C	2: 77,042,867 (GRCm39)	D229G	probably benign	Het
Slc35g1	T	C	19: 38,391,735 (GRCm39)	V339A	probably benign	Het
Slc9b2	T	A	3: 135,034,743 (GRCm39)		probably null	Het
Stk40	C	T	4: 126,022,640 (GRCm39)	T138I	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tep1	T	G	14: 51,076,443 (GRCm39)	K1664Q	probably benign	Het
Tmod2	T	C	9: 75,493,377 (GRCm39)	K193E	possibly damaging	Het
Trak1	T	A	9: 121,302,063 (GRCm39)	*940R	probably null	Het
Ttc5	A	T	14: 51,012,822 (GRCm39)	Y189N	probably damaging	Het
Ugt2a3	A	T	5: 87,484,430 (GRCm39)	M198K	probably damaging	Het
Uox	A	G	3: 146,318,297 (GRCm39)	H66R	probably benign	Het
Usp9y	A	T	Y: 1,303,451 (GRCm39)	D2487E	probably benign	Het
Vnn3	G	A	10: 23,740,311 (GRCm39)	G205R	probably damaging	Het
Vps11	T	C	9: 44,260,294 (GRCm39)	D856G	probably benign	Het
Zdhhc17	T	C	10: 110,817,909 (GRCm39)	N90D	possibly damaging	Het
Zfp105	T	A	9: 122,758,743 (GRCm39)	L138*	probably null	Het
Zfp28	A	G	7: 6,397,875 (GRCm39)	Y770C	probably benign	Het
Zfp655	T	A	5: 145,181,594 (GRCm39)	L484Q	probably damaging	Het
Zfp868	C	A	8: 70,064,646 (GRCm39)	E230*	probably null	Het
Zfpm2	A	G	15: 40,966,419 (GRCm39)	Y836C	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
R1611:Dusp8	UTSW	7	141,636,694 (GRCm39)	missense	probably benign	0.04
R1883:Dusp8	UTSW	7	141,638,085 (GRCm39)	splice site	probably null
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'- TGCACTTACCCGGCCAAAG -3'
(R):5'- AAGTGCTGGAGGGGATGCTC -3'

Sequencing Primer
(F):5'- GAGAACACAGCGCCTGGAC -3'
(R):5'- TGGAGGGGATGCTCCGATC -3'

Posted On

2014-09-18