Mutagenetix > Incidental Mutation

Incidental Mutation 'R1644:Dusp4'

173754

Institutional Source

Beutler Lab

Gene Symbol

Dusp4

Ensembl Gene

ENSMUSG00000031530

Gene Name

dual specificity phosphatase 4

Synonyms

2700078F24Rik, E130306H24Rik, MKP2

MMRRC Submission

039680-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R1644 (G1)

Quality Score

170

Status

Validated

Chromosome

Chromosomal Location

35274451-35287048 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35285633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 298 (Y298C)

Ref Sequence

ENSEMBL: ENSMUSP00000033930 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033930]

AlphaFold

Q8BFV3

Predicted Effect

probably damaging
Transcript: ENSMUST00000033930
AA Change: Y298C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033930
Gene: ENSMUSG00000031530
AA Change: Y298C

Domain	Start	End	E-Value	Type
RHOD	35	160	4.16e-15	SMART
DSPc	199	337	2.91e-64	SMART

Meta Mutation Damage Score

0.9709

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

98% (62/63)

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 are 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 ERK1, ERK2 and JNK, is expressed in a variety of tissues, and is localized in the nucleus. Two alternatively spliced transcript variants, encoding distinct isoforms, have been observed for this gene. In addition, multiple polyadenylation sites have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit a decrease in B cell apoptosis of bone marrow-derived, IL-7-dependent pro-B lymphocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	C	T	1: 11,484,814 (GRCm39)	R8*	probably null	Het
Acacb	A	T	5: 114,333,346 (GRCm39)	H490L	probably damaging	Het
Ace	C	A	11: 105,875,932 (GRCm39)	H417N	probably damaging	Het
Adamtsl3	A	G	7: 82,099,298 (GRCm39)	N151D	possibly damaging	Het
Agap1	A	G	1: 89,591,452 (GRCm39)	N114S	probably damaging	Het
Arap3	A	T	18: 38,117,298 (GRCm39)	V926D	probably damaging	Het
Arhgap12	A	T	18: 6,112,340 (GRCm39)	I8N	probably benign	Het
Arhgef17	A	T	7: 100,578,711 (GRCm39)	F746I	probably damaging	Het
Atp6v0a1	T	C	11: 100,929,612 (GRCm39)	S471P	possibly damaging	Het
Bdp1	A	G	13: 100,197,448 (GRCm39)	V979A	probably benign	Het
Ccdc88c	C	A	12: 100,879,733 (GRCm39)	R1789L	probably damaging	Het
Cckar	A	T	5: 53,857,215 (GRCm39)	N327K	probably benign	Het
Cfap65	T	C	1: 74,956,334 (GRCm39)	T1082A	probably damaging	Het
Clcn7	T	A	17: 25,378,672 (GRCm39)	I719N	probably damaging	Het
Col27a1	C	G	4: 63,246,868 (GRCm39)		probably benign	Het
Cspp1	C	T	1: 10,196,663 (GRCm39)	T179I	probably damaging	Het
Dnah1	C	T	14: 31,024,249 (GRCm39)		probably benign	Het
Dnah6	A	G	6: 73,132,279 (GRCm39)	V1141A	probably benign	Het
Efhc1	C	A	1: 21,037,625 (GRCm39)	Y267*	probably null	Het
Eif2s1	T	A	12: 78,913,295 (GRCm39)		probably null	Het
Epo	A	G	5: 137,481,417 (GRCm39)	V169A	possibly damaging	Het
Esr1	A	T	10: 4,951,380 (GRCm39)	Y586F	probably benign	Het
Fat2	T	C	11: 55,178,609 (GRCm39)	T1484A	possibly damaging	Het
Fat2	T	C	11: 55,187,007 (GRCm39)	T1280A	possibly damaging	Het
Gm5828	T	C	1: 16,839,485 (GRCm39)		noncoding transcript	Het
Idh3b	T	C	2: 130,123,430 (GRCm39)	I187V	possibly damaging	Het
Kif13a	A	C	13: 46,947,398 (GRCm39)	V862G	probably benign	Het
Kndc1	A	G	7: 139,510,669 (GRCm39)	D1327G	probably damaging	Het
Mfsd9	T	A	1: 40,812,958 (GRCm39)	R452S	probably benign	Het
Myh15	C	T	16: 48,952,566 (GRCm39)	R879C	probably benign	Het
Naip2	T	C	13: 100,319,437 (GRCm39)	R260G	possibly damaging	Het
Npat	T	G	9: 53,481,472 (GRCm39)	L1060R	probably damaging	Het
Or2aj4	T	A	16: 19,385,156 (GRCm39)	H159L	probably benign	Het
Or4c126	A	T	2: 89,824,297 (GRCm39)	T187S	possibly damaging	Het
Or4c15	A	T	2: 88,759,731 (GRCm39)	D309E	probably benign	Het
Or52n2b	A	C	7: 104,566,015 (GRCm39)	F163V	probably benign	Het
Or6f2	T	C	7: 139,756,561 (GRCm39)	V176A	probably benign	Het
Pld5	T	C	1: 175,803,192 (GRCm39)	T296A	possibly damaging	Het
Polq	C	T	16: 36,880,626 (GRCm39)	A651V	probably damaging	Het
Polr3a	G	A	14: 24,520,692 (GRCm39)	P607S	probably damaging	Het
Ranbp9	G	A	13: 43,566,015 (GRCm39)	R424C	probably damaging	Het
Rsl1	G	A	13: 67,325,229 (GRCm39)		probably benign	Het
Sema4c	A	G	1: 36,589,885 (GRCm39)	S490P	probably damaging	Het
Setd3	A	T	12: 108,079,603 (GRCm39)	L300Q	possibly damaging	Het
Slc15a3	T	C	19: 10,834,595 (GRCm39)	I492T	possibly damaging	Het
Stag1	T	C	9: 100,762,953 (GRCm39)		probably benign	Het
Tgm4	A	G	9: 122,880,481 (GRCm39)	Y294C	probably damaging	Het
Tm9sf1	A	G	14: 55,878,757 (GRCm39)	S212P	probably benign	Het
Tmcc1	A	G	6: 116,110,826 (GRCm39)	S156P	probably damaging	Het
Vmn1r184	A	C	7: 25,966,670 (GRCm39)	M139L	probably benign	Het
Vmn1r209	A	C	13: 22,990,652 (GRCm39)	F13V	possibly damaging	Het
Xkr5	T	C	8: 18,984,141 (GRCm39)	E467G	probably benign	Het
Zdbf2	C	T	1: 63,348,131 (GRCm39)	S2170L	possibly damaging	Het
Zfp277	G	T	12: 40,379,609 (GRCm39)		probably null	Het
Zfp62	T	C	11: 49,106,596 (GRCm39)	I229T	probably damaging	Het
Zfp810	A	G	9: 22,190,324 (GRCm39)	S195P	possibly damaging	Het
Zfp94	G	A	7: 24,010,927 (GRCm39)		probably benign	Het

Other mutations in Dusp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Dusp4	APN	8	35,285,666 (GRCm39)	missense	probably benign	0.35
IGL02948:Dusp4	APN	8	35,285,726 (GRCm39)	missense	probably damaging	1.00
R1537:Dusp4	UTSW	8	35,285,570 (GRCm39)	missense	probably benign	0.00
R4492:Dusp4	UTSW	8	35,274,890 (GRCm39)	missense	possibly damaging	0.56
R4826:Dusp4	UTSW	8	35,285,671 (GRCm39)	missense	probably damaging	1.00
R5396:Dusp4	UTSW	8	35,284,458 (GRCm39)	missense	probably damaging	1.00
R5637:Dusp4	UTSW	8	35,284,451 (GRCm39)	missense	probably damaging	1.00
R6850:Dusp4	UTSW	8	35,283,651 (GRCm39)	nonsense	probably null
R7078:Dusp4	UTSW	8	35,275,065 (GRCm39)	missense	probably damaging	0.99
R8346:Dusp4	UTSW	8	35,275,092 (GRCm39)	missense	possibly damaging	0.91
R8770:Dusp4	UTSW	8	35,274,938 (GRCm39)	missense	probably benign	0.04
R8944:Dusp4	UTSW	8	35,274,941 (GRCm39)	missense	probably benign	0.00
R8955:Dusp4	UTSW	8	35,284,462 (GRCm39)	missense	probably damaging	1.00
R9051:Dusp4	UTSW	8	35,284,345 (GRCm39)	missense	probably damaging	0.99
R9578:Dusp4	UTSW	8	35,274,822 (GRCm39)	start gained	probably benign
R9675:Dusp4	UTSW	8	35,274,964 (GRCm39)	missense	probably benign	0.01
RF012:Dusp4	UTSW	8	35,274,953 (GRCm39)	small deletion	probably benign
Z1177:Dusp4	UTSW	8	35,275,244 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- TGACGATGTCTTGGCTTCTGTCAC -3'
(R):5'- CGGAAACCGCCGTTATTGCTTATG -3'

Sequencing Primer
(F):5'- TGGCTTCTGTCACATGCAC -3'
(R):5'- AAAGTCGTTATTGCCATCCTAGC -3'

Posted On

2014-04-24