Mutagenetix > Incidental Mutation

Incidental Mutation 'R0009:Dusp8'

150643

Institutional Source

Beutler Lab

Gene Symbol

Dusp8

Ensembl Gene

ENSMUSG00000037887

Gene Name

dual specificity phosphatase 8

Synonyms

5530400B01Rik, Nttp1

MMRRC Submission

038304-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R0009 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

142079490-142095843 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 142082054 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114307 (fasta)

Gene Model

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

AlphaFold

O09112

Predicted Effect

unknown
Transcript: ENSMUST00000039926
AA Change: S600G

SMART Domains

Protein: ENSMUSP00000049414
Gene: ENSMUSG00000037887
AA Change: S600G

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (68/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	G	15: 60,919,633 (GRCm38)		probably benign	Het
Abcg4	T	G	9: 44,277,649 (GRCm38)		probably benign	Het
Afm	C	A	5: 90,545,384 (GRCm38)		probably benign	Het
Ahrr	G	A	13: 74,283,024 (GRCm38)		probably benign	Het
Aplnr	T	A	2: 85,137,276 (GRCm38)		probably null	Het
Arih2	T	A	9: 108,611,727 (GRCm38)	H264L	probably damaging	Het
Atp1a1	A	T	3: 101,579,835 (GRCm38)	I886N	possibly damaging	Het
Bmf	A	T	2: 118,549,622 (GRCm38)	V14E	probably damaging	Het
Ccdc116	T	C	16: 17,144,039 (GRCm38)	E15G	probably damaging	Het
Ccdc175	T	C	12: 72,135,965 (GRCm38)	N427D	possibly damaging	Het
Cfap53	A	G	18: 74,299,176 (GRCm38)	H45R	probably benign	Het
Chd3	A	G	11: 69,349,906 (GRCm38)	L1569P	probably damaging	Het
Cntn2	G	A	1: 132,516,180 (GRCm38)	Q457*	probably null	Het
Coro1a	A	T	7: 126,701,413 (GRCm38)		probably benign	Het
Cracr2b	T	A	7: 141,463,759 (GRCm38)	L91Q	probably damaging	Het
Ctdspl	T	C	9: 119,020,046 (GRCm38)		probably null	Het
Dip2b	T	A	15: 100,169,312 (GRCm38)	L565Q	probably damaging	Het
Dip2c	T	A	13: 9,621,903 (GRCm38)	C1004S	probably damaging	Het
Dnah11	A	T	12: 118,045,522 (GRCm38)	I2135N	possibly damaging	Het
Dnah14	A	G	1: 181,769,407 (GRCm38)		probably benign	Het
Dnase1	T	C	16: 4,038,946 (GRCm38)	V147A	probably damaging	Het
Fer1l6	T	C	15: 58,662,787 (GRCm38)	Y1828H	probably damaging	Het
Flvcr1	A	G	1: 191,008,191 (GRCm38)	V544A	probably benign	Het
Fsd1l	T	C	4: 53,687,209 (GRCm38)	V311A	probably benign	Het
Glud1	G	A	14: 34,334,268 (GRCm38)	G300S	probably benign	Het
Gm4847	C	T	1: 166,630,486 (GRCm38)	V433I	probably benign	Het
Gstm3	T	G	3: 107,967,840 (GRCm38)	Y62S	probably damaging	Het
Gtse1	C	T	15: 85,862,435 (GRCm38)	P151S	probably benign	Het
Herc2	T	C	7: 56,207,812 (GRCm38)	S4048P	probably benign	Het
Hp1bp3	T	A	4: 138,221,683 (GRCm38)	I19K	probably benign	Het
Htr7	C	A	19: 36,041,540 (GRCm38)		probably benign	Het
Il1a	C	T	2: 129,309,074 (GRCm38)	D10N	probably damaging	Het
Il22ra2	A	T	10: 19,624,458 (GRCm38)	N39I	probably damaging	Het
Kcnn4	T	C	7: 24,379,255 (GRCm38)	C267R	possibly damaging	Het
Larp1	A	G	11: 58,055,473 (GRCm38)	K879R	possibly damaging	Het
Lcn5	T	A	2: 25,661,405 (GRCm38)		probably benign	Het
Lep	T	A	6: 29,068,972 (GRCm38)	C7*	probably null	Het
Magi2	A	T	5: 20,611,055 (GRCm38)	Y747F	probably benign	Het
Mast4	T	C	13: 102,742,058 (GRCm38)	T1223A	probably damaging	Het
Mcc	C	T	18: 44,445,933 (GRCm38)	E803K	probably damaging	Het
Mtmr4	T	C	11: 87,611,508 (GRCm38)	I796T	probably benign	Het
Myef2	A	T	2: 125,108,978 (GRCm38)	D312E	probably benign	Het
Myl3	A	C	9: 110,767,929 (GRCm38)	D119A	probably damaging	Het
Myo19	T	A	11: 84,888,169 (GRCm38)		probably null	Het
Naa15	T	G	3: 51,470,219 (GRCm38)	H763Q	probably damaging	Het
Pde5a	C	T	3: 122,824,902 (GRCm38)		probably benign	Het
Plpp2	C	T	10: 79,527,244 (GRCm38)	R184H	probably benign	Het
Rab19	T	G	6: 39,389,687 (GRCm38)	L179V	probably damaging	Het
Rims2	T	A	15: 39,534,966 (GRCm38)	M1087K	probably damaging	Het
Riox2	C	A	16: 59,489,367 (GRCm38)	D361E	probably benign	Het
Sh3rf1	T	A	8: 61,226,293 (GRCm38)	V123E	probably damaging	Het
Slc35e1	A	T	8: 72,484,709 (GRCm38)	N318K	probably damaging	Het
Slc9a2	A	T	1: 40,763,602 (GRCm38)	E604V	probably benign	Het
Srp72	T	C	5: 76,987,885 (GRCm38)	S221P	probably damaging	Het
Tbx19	A	T	1: 165,160,520 (GRCm38)	S15T	possibly damaging	Het
Tcea2	A	G	2: 181,685,817 (GRCm38)	T112A	probably benign	Het
Tesk1	T	A	4: 43,445,368 (GRCm38)	D230E	probably damaging	Het
Tm4sf5	C	T	11: 70,510,712 (GRCm38)	A179V	probably damaging	Het
Tnr	G	T	1: 159,852,416 (GRCm38)	G320V	probably damaging	Het
Trappc11	A	T	8: 47,503,320 (GRCm38)	C874S	possibly damaging	Het
Trpm3	T	A	19: 22,914,446 (GRCm38)	Y885N	probably damaging	Het
Unc5a	T	A	13: 55,002,879 (GRCm38)	C505S	probably damaging	Het
Vmn1r28	G	A	6: 58,265,717 (GRCm38)	A182T	probably benign	Het
Xpo5	T	C	17: 46,204,786 (GRCm38)		probably benign	Het
Zfp637	C	A	6: 117,845,668 (GRCm38)	H252Q	probably damaging	Het
Zfp646	T	A	7: 127,880,731 (GRCm38)	D693E	probably damaging	Het

Other mutations in Dusp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Dusp8	APN	7	142,084,423 (GRCm38)	missense	probably benign	0.05
IGL02458:Dusp8	APN	7	142,082,747 (GRCm38)	missense	probably benign	0.28
IGL02931:Dusp8	APN	7	142,082,930 (GRCm38)	missense	probably benign	0.00
IGL03329:Dusp8	APN	7	142,084,360 (GRCm38)	nonsense	probably null
R1054:Dusp8	UTSW	7	142,082,067 (GRCm38)	unclassified	probably benign
R1611:Dusp8	UTSW	7	142,082,957 (GRCm38)	missense	probably benign	0.04
R1883:Dusp8	UTSW	7	142,084,348 (GRCm38)	splice site	probably null
R2119:Dusp8	UTSW	7	142,082,561 (GRCm38)	missense	possibly damaging	0.91
R2326:Dusp8	UTSW	7	142,090,063 (GRCm38)	missense	probably damaging	1.00
R2698:Dusp8	UTSW	7	142,081,964 (GRCm38)	unclassified	probably benign
R2905:Dusp8	UTSW	7	142,083,389 (GRCm38)	nonsense	probably null
R3849:Dusp8	UTSW	7	142,090,065 (GRCm38)	missense	probably damaging	1.00
R4921:Dusp8	UTSW	7	142,082,154 (GRCm38)	unclassified	probably benign
R4942:Dusp8	UTSW	7	142,082,228 (GRCm38)	missense	possibly damaging	0.85
R5288:Dusp8	UTSW	7	142,089,993 (GRCm38)	missense	possibly damaging	0.95
R5385:Dusp8	UTSW	7	142,089,993 (GRCm38)	missense	possibly damaging	0.95
R5386:Dusp8	UTSW	7	142,089,993 (GRCm38)	missense	possibly damaging	0.95
R6301:Dusp8	UTSW	7	142,083,019 (GRCm38)	splice site	probably null
R6520:Dusp8	UTSW	7	142,083,681 (GRCm38)	missense	probably damaging	0.99
R6665:Dusp8	UTSW	7	142,090,105 (GRCm38)	missense	probably damaging	0.97
R9130:Dusp8	UTSW	7	142,088,418 (GRCm38)	missense	probably benign	0.12
RF016:Dusp8	UTSW	7	142,082,852 (GRCm38)	missense	probably benign	0.04
X0064:Dusp8	UTSW	7	142,082,027 (GRCm38)	unclassified	probably benign
Z1176:Dusp8	UTSW	7	142,090,077 (GRCm38)	missense	probably damaging	1.00
Z1176:Dusp8	UTSW	7	142,081,943 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTCACGATACTTCGATGACCTCCAC -3'
(R):5'- ACATCAAGTCGGCCTATGCACC -3'

Sequencing Primer
(F):5'- TCCACGCTGCCAGAGAAG -3'
(R):5'- GGCCTGAACTTTGGAGACAC -3'

Posted On

2014-01-27