Mutagenetix > Incidental Mutation

Incidental Mutation 'R2698:Dusp8'

251331

Institutional Source

Beutler Lab

Gene Symbol

Dusp8

Ensembl Gene

ENSMUSG00000037887

Gene Name

dual specificity phosphatase 8

Synonyms

Nttp1, 5530400B01Rik

MMRRC Submission

040436-MU

Accession Numbers

Essential gene?

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

Stock #

R2698 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

141633227-141649580 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 141635701 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

unknown
Transcript: ENSMUST00000039926
AA Change: F630L

SMART Domains

Protein: ENSMUSP00000049414
Gene: ENSMUSG00000037887
AA Change: F630L

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

0.1235

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,578,862 (GRCm39)	R901G	possibly damaging	Het
Abhd18	T	A	3: 40,885,401 (GRCm39)	M262K	probably benign	Het
Ano2	C	A	6: 125,689,309 (GRCm39)	L145I	probably benign	Het
Ckap5	T	C	2: 91,408,426 (GRCm39)	W874R	probably damaging	Het
Cox4i1	G	T	8: 121,396,102 (GRCm39)		probably benign	Het
Cwc27	A	T	13: 104,943,259 (GRCm39)	N94K	probably damaging	Het
Dcaf11	T	C	14: 55,804,342 (GRCm39)	S372P	probably damaging	Het
Dpysl4	A	G	7: 138,676,681 (GRCm39)	N356S	probably damaging	Het
Erc2	G	A	14: 27,993,662 (GRCm39)	V894M	probably benign	Het
Fbxo28	T	A	1: 182,144,719 (GRCm39)	I282F	probably benign	Het
Fsd2	T	C	7: 81,195,608 (GRCm39)	T434A	probably damaging	Het
Gabra4	T	C	5: 71,729,421 (GRCm39)	H453R	probably benign	Het
Glrx	T	A	13: 75,988,065 (GRCm39)		probably null	Het
Gm11541	A	T	11: 94,586,441 (GRCm39)	L102*	probably null	Het
Gm5113	T	A	7: 29,878,150 (GRCm39)	Y79*	probably null	Het
Gpr87	T	A	3: 59,086,587 (GRCm39)	N306I	probably damaging	Het
Hydin	T	A	8: 111,336,561 (GRCm39)	Y5113N	possibly damaging	Het
Iqsec3	C	T	6: 121,390,430 (GRCm39)		probably benign	Het
Kbtbd8	C	A	6: 95,103,570 (GRCm39)	Y406*	probably null	Het
Lamb1	G	T	12: 31,348,882 (GRCm39)	R590L	probably benign	Het
Lin54	A	T	5: 100,628,109 (GRCm39)	N31K	probably damaging	Het
Lnpk	T	C	2: 74,367,845 (GRCm39)	E165G	probably damaging	Het
Lrp4	C	T	2: 91,305,557 (GRCm39)	R276C	probably damaging	Het
Lrrc7	T	A	3: 157,841,028 (GRCm39)	T1384S	probably benign	Het
Mia2	T	C	12: 59,217,780 (GRCm39)		probably null	Het
Morc2a	T	C	11: 3,635,400 (GRCm39)	V797A	probably damaging	Het
Mrps23	T	C	11: 88,096,193 (GRCm39)		probably benign	Het
Muc17	A	T	5: 137,175,484 (GRCm39)	I62K	probably damaging	Het
Nlrp4g	T	A	9: 124,349,630 (GRCm38)		noncoding transcript	Het
Nptx1	A	T	11: 119,435,669 (GRCm39)		probably benign	Het
Or1j20	T	A	2: 36,760,208 (GRCm39)	I210K	possibly damaging	Het
Pabpc1l	T	G	2: 163,886,302 (GRCm39)		probably null	Het
Pdcd6ip	A	T	9: 113,503,575 (GRCm39)		probably null	Het
Plcg1	A	G	2: 160,603,383 (GRCm39)	T1185A	possibly damaging	Het
Plcxd1	A	G	5: 110,250,349 (GRCm39)	Q230R	probably benign	Het
Psme4	T	A	11: 30,824,282 (GRCm39)		probably null	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptch1	T	A	13: 63,690,038 (GRCm39)	N320Y	probably damaging	Het
Qars1	G	A	9: 108,385,642 (GRCm39)	V60I	possibly damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rhag	T	C	17: 41,147,367 (GRCm39)	S410P	probably damaging	Het
Rnf213	A	G	11: 119,300,970 (GRCm39)	K297E	probably benign	Het
Rps6ka4	T	C	19: 6,814,720 (GRCm39)	E294G	probably benign	Het
Scaf4	T	A	16: 90,041,244 (GRCm39)	I695F	unknown	Het
Scrn2	T	C	11: 96,923,122 (GRCm39)		probably benign	Het
Scx	T	A	15: 76,342,363 (GRCm39)	C188S	probably damaging	Het
Sdk1	G	T	5: 142,197,805 (GRCm39)	V1893L	possibly damaging	Het
Sema5a	C	A	15: 32,673,546 (GRCm39)	Q795K	probably damaging	Het
Slc24a3	A	G	2: 145,455,487 (GRCm39)	S459G	probably benign	Het
Smurf1	A	G	5: 144,820,372 (GRCm39)		probably benign	Het
Taar4	T	C	10: 23,837,328 (GRCm39)	Y313H	probably damaging	Het
Tmprss11c	A	G	5: 86,419,322 (GRCm39)	F79S	probably damaging	Het
Tnfaip8l2	T	A	3: 95,047,672 (GRCm39)	I64F	possibly damaging	Het
Trbv13-1	A	G	6: 41,093,372 (GRCm39)	T102A	probably damaging	Het
Trpa1	A	T	1: 14,976,222 (GRCm39)	N160K	probably damaging	Het
Ttc22	A	G	4: 106,496,435 (GRCm39)	Y495C	probably benign	Het
Usp50	A	G	2: 126,619,949 (GRCm39)	I121T	probably damaging	Het
Vmn2r117	A	G	17: 23,678,885 (GRCm39)	S780P	probably damaging	Het
Vmn2r66	A	T	7: 84,644,607 (GRCm39)	V601D	probably damaging	Het
Wapl	G	A	14: 34,413,734 (GRCm39)	A199T	probably benign	Het
Zfp658	A	G	7: 43,222,969 (GRCm39)	T415A	possibly damaging	Het
Zfp760	C	T	17: 21,939,935 (GRCm39)	T9I	probably damaging	Het
Zfp998	A	G	13: 66,581,495 (GRCm39)	S59P	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
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
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'- GCACAGTTGCCAGATCACTAG -3'
(R):5'- CTGAACTTTGGAGACACGGC -3'

Sequencing Primer
(F):5'- GTAAAACCATTTACCTTTTCTGTGTG -3'
(R):5'- TGGACCCGGTAACAGCAG -3'

Posted On

2014-12-04