Mutagenetix > Incidental Mutation

Incidental Mutation 'R1883:Dusp8'

209270

Institutional Source

Beutler Lab

Gene Symbol

Dusp8

Ensembl Gene

ENSMUSG00000037887

Gene Name

dual specificity phosphatase 8

Synonyms

Nttp1, 5530400B01Rik

MMRRC Submission

039904-MU

Accession Numbers

Essential gene?

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

Stock #

R1883 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141633227-141649580 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 141638085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114307 (fasta)

Gene Model

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

AlphaFold

O09112

Predicted Effect

probably null
Transcript: ENSMUST00000039926

SMART Domains

Protein: ENSMUSP00000049414
Gene: ENSMUSG00000037887

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

probably null
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: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano9	T	C	7: 140,682,244 (GRCm39)	E677G	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bhmt1b	T	C	18: 87,774,669 (GRCm39)	L64P	probably damaging	Het
Brs3	T	C	X: 56,092,449 (GRCm39)	I311T	probably benign	Het
Capn9	A	G	8: 125,338,297 (GRCm39)	K552R	probably benign	Het
Catsperg1	C	T	7: 28,881,661 (GRCm39)		probably null	Het
Cdc16	A	G	8: 13,825,738 (GRCm39)	N449D	probably damaging	Het
Cdyl2	A	T	8: 117,321,902 (GRCm39)	N208K	probably damaging	Het
Cnot4	C	T	6: 35,055,092 (GRCm39)	V66I	probably damaging	Het
Cntn4	A	G	6: 106,656,353 (GRCm39)	T885A	probably benign	Het
Col20a1	C	T	2: 180,634,703 (GRCm39)	T131I	possibly damaging	Het
Crybg2	C	A	4: 133,801,594 (GRCm39)	S918*	probably null	Het
Dact2	A	T	17: 14,418,085 (GRCm39)	S207T	possibly damaging	Het
Dbnl	G	A	11: 5,749,247 (GRCm39)	G356E	probably benign	Het
Ddx18	C	A	1: 121,495,645 (GRCm39)		probably benign	Het
Dis3	A	T	14: 99,328,905 (GRCm39)	H282Q	probably benign	Het
Dnah3	T	C	7: 119,677,142 (GRCm39)	D453G	probably benign	Het
Dst	T	C	1: 34,228,389 (GRCm39)	V1994A	possibly damaging	Het
Eipr1	A	T	12: 28,816,850 (GRCm39)	H69L	possibly damaging	Het
Eml1	A	G	12: 108,429,911 (GRCm39)	R65G	probably damaging	Het
Epha7	C	T	4: 28,950,362 (GRCm39)	H722Y	possibly damaging	Het
Epyc	A	T	10: 97,511,695 (GRCm39)	K229N	possibly damaging	Het
Extl1	A	G	4: 134,091,917 (GRCm39)	I312T	probably benign	Het
F13a1	G	C	13: 37,172,981 (GRCm39)	A133G	probably benign	Het
Fam185a	G	T	5: 21,630,242 (GRCm39)	C26F	possibly damaging	Het
Fam186b	T	C	15: 99,176,679 (GRCm39)	N737S	probably damaging	Het
Fam78b	A	G	1: 166,829,171 (GRCm39)	I13V	probably benign	Het
Fat1	A	T	8: 45,504,184 (GRCm39)	Q4559L	probably benign	Het
Fnip1	T	C	11: 54,406,373 (GRCm39)	S1157P	probably damaging	Het
Foxj3	A	C	4: 119,467,226 (GRCm39)	M190L	probably benign	Het
Heatr3	T	C	8: 88,871,221 (GRCm39)	Y192H	possibly damaging	Het
Hexd	T	A	11: 121,098,524 (GRCm39)	S3T	probably benign	Het
Klf3	C	T	5: 64,980,224 (GRCm39)	P5S	probably damaging	Het
Klf9	C	T	19: 23,142,101 (GRCm39)	S187L	probably damaging	Het
Krt9	T	C	11: 100,079,523 (GRCm39)	H623R	unknown	Het
Krtap2-4	G	C	11: 99,505,505 (GRCm39)		probably benign	Het
Lmtk3	T	C	7: 45,436,273 (GRCm39)	Y84H	probably damaging	Het
Mroh3	G	T	1: 136,134,731 (GRCm39)	A166D	probably damaging	Het
Musk	C	A	4: 58,373,189 (GRCm39)	P697T	probably benign	Het
Nek9	A	G	12: 85,379,330 (GRCm39)	L192P	probably damaging	Het
Nipbl	A	C	15: 8,356,616 (GRCm39)	F1590C	probably damaging	Het
Nrk	G	T	X: 137,907,922 (GRCm39)	V1455F	probably damaging	Het
Nsun3	T	C	16: 62,555,656 (GRCm39)	D290G	probably damaging	Het
Obscn	T	C	11: 58,969,029 (GRCm39)	T222A	probably damaging	Het
Or2a12	T	C	6: 42,904,764 (GRCm39)	S200P	probably damaging	Het
Or51f1d	T	C	7: 102,701,189 (GRCm39)	I228T	probably benign	Het
Or6b9	T	C	7: 106,555,981 (GRCm39)	H54R	probably benign	Het
Osbpl11	T	G	16: 33,034,723 (GRCm39)	H237Q	probably benign	Het
Pde10a	A	T	17: 9,197,776 (GRCm39)	T671S	possibly damaging	Het
Pkd2	A	T	5: 104,631,094 (GRCm39)	N506I	probably damaging	Het
Ppp3cb	A	G	14: 20,573,913 (GRCm39)	V274A	possibly damaging	Het
Prex1	T	C	2: 166,425,192 (GRCm39)	D938G	probably benign	Het
Ptch1	G	A	13: 63,659,841 (GRCm39)	Q1134*	probably null	Het
Rasgrf2	A	G	13: 92,117,149 (GRCm39)	V820A	probably benign	Het
Rimbp2	C	T	5: 128,880,998 (GRCm39)	V137M	possibly damaging	Het
Rpa1	A	G	11: 75,209,309 (GRCm39)	V137A	probably benign	Het
Rps6ka1	A	C	4: 133,591,354 (GRCm39)	I299S	probably damaging	Het
Scn3b	A	C	9: 40,190,669 (GRCm39)		probably null	Het
Sdha	A	T	13: 74,481,255 (GRCm39)	I317N	probably damaging	Het
Serpina1d	T	A	12: 103,732,037 (GRCm39)	D274V	possibly damaging	Het
Sik3	C	G	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Snx14	T	A	9: 88,284,314 (GRCm39)	E451D	probably benign	Het
Spmip4	T	C	6: 50,551,433 (GRCm39)	T339A	probably benign	Het
Swt1	T	A	1: 151,299,284 (GRCm39)	K8*	probably null	Het
Tas1r3	G	T	4: 155,946,610 (GRCm39)	P332T	probably damaging	Het
Tas2r126	A	T	6: 42,411,961 (GRCm39)	T165S	probably benign	Het
Tecpr1	A	G	5: 144,143,347 (GRCm39)	V676A	probably benign	Het
Tg	A	G	15: 66,543,158 (GRCm39)	E24G	probably damaging	Het
Tlr7	C	T	X: 166,089,468 (GRCm39)	G673S	probably benign	Het
Tnxb	T	A	17: 34,908,539 (GRCm39)	D1520E	probably benign	Het
Trabd	A	G	15: 88,966,184 (GRCm39)	E47G	probably damaging	Het
Trim29	T	A	9: 43,222,702 (GRCm39)	I177N	probably damaging	Het
Ubxn2a	A	T	12: 4,944,563 (GRCm39)	L53*	probably null	Het
Ulk2	A	G	11: 61,721,438 (GRCm39)	L208P	probably damaging	Het
Unc80	G	A	1: 66,564,929 (GRCm39)	C872Y	possibly damaging	Het
Vac14	A	G	8: 111,438,319 (GRCm39)	H644R	probably damaging	Het
Vmn1r20	C	A	6: 57,409,306 (GRCm39)	H211N	probably benign	Het
Vmn1r31	C	T	6: 58,449,029 (GRCm39)	V279I	probably damaging	Het
Vmn2r18	G	T	5: 151,499,190 (GRCm39)	Q425K	probably benign	Het
Vmn2r60	T	C	7: 41,786,094 (GRCm39)	V299A	probably damaging	Het
Vps54	A	T	11: 21,262,967 (GRCm39)	T685S	possibly damaging	Het
Vwa5b1	A	G	4: 138,302,700 (GRCm39)	W932R	probably damaging	Het
Wdr53	A	T	16: 32,075,316 (GRCm39)	I174F	possibly damaging	Het
Zfp157	A	G	5: 138,443,102 (GRCm39)	D31G	probably damaging	Het
Zfp60	T	C	7: 27,449,435 (GRCm39)	L701P	probably benign	Het
Zfp609	A	T	9: 65,702,040 (GRCm39)	M204K	probably benign	Het
Zfp831	A	G	2: 174,545,870 (GRCm39)	H1325R	possibly damaging	Het
Zfp995	A	T	17: 22,099,622 (GRCm39)	I204N	probably benign	Het
Zp2	C	T	7: 119,732,624 (GRCm39)	D641N	probably benign	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
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'- AGAAGCAGTTTGGCATGCG -3'
(R):5'- GAAGAGCCTTCTGTGTCTCCTC -3'

Sequencing Primer
(F):5'- AGACTGGGAGCCTGCCTTTC -3'
(R):5'- TCCCACAGGAGGCTTCG -3'

Posted On

2014-06-30