Mutagenetix > Incidental Mutation

Incidental Mutation 'R5637:Dusp4'

440443

Institutional Source

Beutler Lab

Gene Symbol

Dusp4

Ensembl Gene

ENSMUSG00000031530

Gene Name

dual specificity phosphatase 4

Synonyms

2700078F24Rik, E130306H24Rik, MKP2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R5637 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35274451-35287048 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35284451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 255 (H255Q)

Ref Sequence

ENSEMBL: ENSMUSP00000033930 (fasta)

Gene Model

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

AlphaFold

Q8BFV3

Predicted Effect

probably damaging
Transcript: ENSMUST00000033930
AA Change: H255Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033930
Gene: ENSMUSG00000031530
AA Change: H255Q

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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 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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	T	C	1: 127,694,050 (GRCm39)	F327L	probably damaging	Het
Adgrl3	C	A	5: 81,841,391 (GRCm39)	S824Y	probably damaging	Het
Arfip2	A	G	7: 105,286,370 (GRCm39)	M144T	probably damaging	Het
Arhgap32	A	G	9: 32,158,502 (GRCm39)	N179S	probably damaging	Het
Ash2l	T	C	8: 26,317,339 (GRCm39)	Y249C	probably damaging	Het
Ccndbp1	A	G	2: 120,842,165 (GRCm39)	T141A	probably benign	Het
Cd177	T	A	7: 24,455,748 (GRCm39)	H258L	probably benign	Het
Celsr3	T	C	9: 108,714,332 (GRCm39)	W1956R	probably damaging	Het
Cep295	T	C	9: 15,245,108 (GRCm39)		probably null	Het
Cngb1	T	C	8: 95,984,549 (GRCm39)	H420R	probably damaging	Het
Cobl	C	T	11: 12,246,531 (GRCm39)		probably benign	Het
Cobll1	T	C	2: 64,956,247 (GRCm39)	D337G	possibly damaging	Het
Dmrta1	A	G	4: 89,577,068 (GRCm39)	N175D	probably benign	Het
Dnah7b	G	T	1: 46,395,674 (GRCm39)	V3859L	possibly damaging	Het
Dnah7c	A	G	1: 46,799,521 (GRCm39)		probably null	Het
Evx1	T	C	6: 52,292,751 (GRCm39)	V134A	possibly damaging	Het
F12	T	C	13: 55,570,228 (GRCm39)	K93E	possibly damaging	Het
Fam186a	A	C	15: 99,839,628 (GRCm39)	H2205Q	possibly damaging	Het
Fcgbpl1	A	G	7: 27,852,277 (GRCm39)	N1267D	probably benign	Het
Frem2	A	G	3: 53,560,358 (GRCm39)	I1383T	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gpr158	A	G	2: 21,788,083 (GRCm39)	I575V	probably benign	Het
Hdc	A	G	2: 126,458,109 (GRCm39)	V71A	probably benign	Het
Helb	G	A	10: 119,941,353 (GRCm39)	T445M	probably benign	Het
Inppl1	A	T	7: 101,478,055 (GRCm39)	S652R	probably benign	Het
Itpripl1	T	C	2: 126,984,044 (GRCm39)	D26G	probably damaging	Het
Klc1	T	A	12: 111,740,842 (GRCm39)	L106H	probably damaging	Het
Klhl25	T	A	7: 75,515,540 (GRCm39)		probably null	Het
Krt6a	T	C	15: 101,600,714 (GRCm39)	D318G	probably benign	Het
Lrp2	T	C	2: 69,302,762 (GRCm39)	N2989S	probably damaging	Het
Lta4h	A	G	10: 93,304,731 (GRCm39)		probably null	Het
Man1c1	A	G	4: 134,318,735 (GRCm39)	S251P	probably damaging	Het
Mapre2	T	C	18: 23,886,919 (GRCm39)		probably benign	Het
Mfap3l	A	T	8: 61,109,821 (GRCm39)	I66F	probably damaging	Het
Mvk	A	G	5: 114,594,003 (GRCm39)	E286G	possibly damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Or14a260	G	A	7: 85,984,812 (GRCm39)	T264I	probably benign	Het
Or4f52	T	A	2: 111,061,456 (GRCm39)	K227N	probably benign	Het
Or7d11	A	T	9: 19,966,279 (GRCm39)	V160D	possibly damaging	Het
Pcdh9	A	G	14: 94,123,198 (GRCm39)	F991L	possibly damaging	Het
Pcdha9	T	C	18: 37,131,426 (GRCm39)	V165A	probably benign	Het
Pcsk6	A	G	7: 65,618,745 (GRCm39)	H437R	probably damaging	Het
Pfas	C	T	11: 68,884,149 (GRCm39)	V589M	probably damaging	Het
Prpf40a	A	G	2: 53,046,746 (GRCm39)	V288A	possibly damaging	Het
Rnf183	T	C	4: 62,346,387 (GRCm39)	D137G	probably benign	Het
Rsph6a	A	G	7: 18,788,820 (GRCm39)	S51G	probably benign	Het
Scap	G	A	9: 110,210,640 (GRCm39)	A991T	possibly damaging	Het
Sdk2	C	A	11: 113,724,005 (GRCm39)	V1222F	probably damaging	Het
Sdr16c6	T	A	4: 4,063,232 (GRCm39)	N181I	possibly damaging	Het
Semp2l2a	A	T	8: 13,887,713 (GRCm39)	M126K	possibly damaging	Het
Serpinb7	A	T	1: 107,356,037 (GRCm39)	D20V	probably damaging	Het
Sh3bp2	C	A	5: 34,718,392 (GRCm39)	R531S	possibly damaging	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Sox2	A	G	3: 34,704,677 (GRCm39)	N38S	probably benign	Het
Spg7	C	A	8: 123,821,314 (GRCm39)	Q680K	possibly damaging	Het
Styk1	T	C	6: 131,277,381 (GRCm39)	E331G	possibly damaging	Het
Tkfc	G	A	19: 10,571,897 (GRCm39)	R380W	probably benign	Het
Trib3	A	G	2: 152,180,410 (GRCm39)	F261S	probably damaging	Het
Ubr1	T	A	2: 120,793,998 (GRCm39)	Q62L	possibly damaging	Het
Vmn2r54	T	C	7: 12,349,296 (GRCm39)	Y762C	probably benign	Het
Vmn2r97	T	A	17: 19,167,628 (GRCm39)	Y627*	probably null	Het
Zfp12	A	G	5: 143,231,451 (GRCm39)	K625E	probably damaging	Het
Zw10	T	C	9: 48,968,950 (GRCm39)	V38A	probably damaging	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
R1644:Dusp4	UTSW	8	35,285,633 (GRCm39)	missense	probably damaging	1.00
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
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'- TCAGCCCTGCATCACTCATG -3'
(R):5'- CAAATATTTGGTGAGAGCAACGAC -3'

Sequencing Primer
(F):5'- GCATCACTCATGTTTTGCCTATG -3'
(R):5'- TTTGGTGAGAGCAACGACAAAATAC -3'

Posted On

2016-11-08