Mutagenetix > Incidental Mutation

Incidental Mutation 'R9125:Dusp6'

693195

Institutional Source

Beutler Lab

Gene Symbol

Dusp6

Ensembl Gene

ENSMUSG00000019960

Gene Name

dual specificity phosphatase 6

Synonyms

1300019I03Rik, MKP-3, PYST1, MKP3

MMRRC Submission

068925-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.423) question?

Stock #

R9125 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99099093-99103351 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 99102074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 353 (C353*)

Ref Sequence

ENSEMBL: ENSMUSP00000020118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020118] [ENSMUST00000220291]

AlphaFold

Q9DBB1

Predicted Effect

probably null
Transcript: ENSMUST00000020118
AA Change: C353*

SMART Domains

Protein: ENSMUSP00000020118
Gene: ENSMUSG00000019960
AA Change: C353*

Domain	Start	End	E-Value	Type
RHOD	20	145	3.06e-13	SMART
low complexity region	151	187	N/A	INTRINSIC
DSPc	206	346	5.51e-65	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000220291
AA Change: C207*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (64/66)

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 ERK2, is expressed in a variety of tissues with the highest levels in heart and pancreas, and unlike most other members of this family, is localized in the cytoplasm. Mutations in this gene have been associated with congenital hypogonadotropic hypogonadism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous or heterozygous for a null mutation display partial penetrance of postnatal lethality, reduced body weight, and abnormal growth plate morphology. [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
Abcg5	G	A	17: 84,976,425 (GRCm39)	H471Y	probably damaging	Het
Adam3	A	G	8: 25,213,517 (GRCm39)	L61P	probably damaging	Het
Ank2	T	A	3: 126,733,744 (GRCm39)	D622V	probably damaging	Het
Antxr2	G	A	5: 98,151,973 (GRCm39)	S166F	probably damaging	Het
Asph	C	T	4: 9,474,928 (GRCm39)	G682D	possibly damaging	Het
Asz1	T	C	6: 18,054,561 (GRCm39)	E414G	probably benign	Het
Cabp2	G	A	19: 4,135,597 (GRCm39)	D96N	probably damaging	Het
Cc2d2a	T	A	5: 43,860,563 (GRCm39)	D546E	probably benign	Het
Cdca2	T	A	14: 67,917,762 (GRCm39)	R545S	probably benign	Het
Chrna7	G	A	7: 62,757,357 (GRCm39)	Q181*	probably null	Het
Cib1	T	C	7: 79,877,751 (GRCm39)	D182G	probably damaging	Het
Cib4	T	C	5: 30,655,477 (GRCm39)	H76R	probably benign	Het
Cop1	T	G	1: 159,067,187 (GRCm39)	F157V	probably damaging	Het
Cspg4b	C	T	13: 113,505,374 (GRCm39)	P2168S		Het
Dap3	T	A	3: 88,837,861 (GRCm39)	T130S	probably benign	Het
Ddb2	T	A	2: 91,064,593 (GRCm39)	K106*	probably null	Het
Derl3	G	A	10: 75,730,443 (GRCm39)	V169I	probably benign	Het
Efcab3	A	T	11: 104,736,360 (GRCm39)	D2110V	probably damaging	Het
Fry	A	G	5: 150,269,525 (GRCm39)	N217S	probably damaging	Het
Gabrb2	A	G	11: 42,482,693 (GRCm39)	T184A	probably damaging	Het
Gfpt1	G	A	6: 87,053,248 (GRCm39)	V403I	probably benign	Het
Gm7276	A	G	18: 77,273,147 (GRCm39)	S196P	unknown	Het
Grik1	T	A	16: 87,852,956 (GRCm39)	T76S		Het
Hrnr	A	G	3: 93,238,863 (GRCm39)	N3034D	unknown	Het
Kmt2c	T	C	5: 25,489,194 (GRCm39)	T4582A	possibly damaging	Het
Mroh9	T	C	1: 162,875,412 (GRCm39)	I496V	probably benign	Het
Muc3a	A	G	5: 137,245,210 (GRCm39)	L115P	probably damaging	Het
Nfe2	A	G	15: 103,157,871 (GRCm39)	L40P	probably damaging	Het
Nipsnap3b	A	T	4: 53,021,177 (GRCm39)	D216V	probably damaging	Het
Or5d14	C	T	2: 87,880,294 (GRCm39)	V225M	probably damaging	Het
Or8b49	T	A	9: 38,506,108 (GRCm39)	I197K	probably damaging	Het
Otx1	G	A	11: 21,949,458 (GRCm39)	Q7*	probably null	Het
Piezo2	A	G	18: 63,178,589 (GRCm39)	I1776T	probably benign	Het
Pira12	T	A	7: 3,900,021 (GRCm39)	I194L	possibly damaging	Het
Ppp1r37	T	C	7: 19,269,014 (GRCm39)	D162G	probably benign	Het
Ppp4c	T	A	7: 126,386,739 (GRCm39)	E116V	probably damaging	Het
Pramel17	A	G	4: 101,694,073 (GRCm39)	V270A	probably benign	Het
Prorp	A	T	12: 55,355,611 (GRCm39)	D372V	possibly damaging	Het
Psme2	T	A	14: 55,828,302 (GRCm39)	K15N	possibly damaging	Het
Retreg1	C	T	15: 25,968,618 (GRCm39)	R125C	probably damaging	Het
Rgs16	A	G	1: 153,617,874 (GRCm39)	E128G	probably null	Het
Rnf145	G	T	11: 44,450,819 (GRCm39)	R381L	probably damaging	Het
Rnf2	T	C	1: 151,347,433 (GRCm39)	K289E	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,669,292 (GRCm39)	V3504A	probably benign	Het
Selp	T	A	1: 163,951,356 (GRCm39)	I30N	probably benign	Het
Serpinb5	C	T	1: 106,798,137 (GRCm39)	A42V	probably benign	Het
Sfpq	G	A	4: 126,915,633 (GRCm39)	G142S	unknown	Het
Sh2d1b2	T	C	1: 170,075,751 (GRCm39)	Y62H	possibly damaging	Het
Sipa1l3	C	T	7: 29,086,656 (GRCm39)	E645K	probably damaging	Het
Slc22a1	T	A	17: 12,878,598 (GRCm39)	T372S	probably benign	Het
Smarca2	T	A	19: 26,693,583 (GRCm39)	D1262E	possibly damaging	Het
Speer4a3	T	C	5: 26,156,596 (GRCm39)	M128V	possibly damaging	Het
Sptbn2	A	T	19: 4,784,241 (GRCm39)	Q661L	probably benign	Het
Tarbp1	G	T	8: 127,174,202 (GRCm39)	T868K	possibly damaging	Het
Tnfrsf8	A	G	4: 145,023,531 (GRCm39)	S101P	probably damaging	Het
Tnfsf10	A	C	3: 27,380,028 (GRCm39)		probably benign	Het
Tsc2	C	T	17: 24,823,802 (GRCm39)	R1001K	probably null	Het
Unc80	T	A	1: 66,718,740 (GRCm39)	S2988T	probably benign	Het
Vmn1r195	A	G	13: 22,463,335 (GRCm39)	I268M	possibly damaging	Het
Vmn1r27	G	A	6: 58,192,416 (GRCm39)	T196I	probably benign	Het
Vmn2r80	T	A	10: 78,984,760 (GRCm39)	D37E	probably benign	Het
Vmn2r9	A	T	5: 108,996,047 (GRCm39)	H200Q		Het
Washc5	T	C	15: 59,209,134 (GRCm39)	Y1030C	probably damaging	Het
Wdr47	T	C	3: 108,526,106 (GRCm39)	F210L	probably damaging	Het
Wscd2	C	A	5: 113,715,417 (GRCm39)	A419E	probably benign	Het

Other mutations in Dusp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02272:Dusp6	APN	10	99,101,881 (GRCm39)	missense	probably damaging	1.00
IGL02687:Dusp6	APN	10	99,102,044 (GRCm39)	missense	probably damaging	0.97
IGL02996:Dusp6	APN	10	99,100,628 (GRCm39)	missense	possibly damaging	0.52
IGL03024:Dusp6	APN	10	99,102,156 (GRCm39)	missense	probably damaging	0.97
R1134:Dusp6	UTSW	10	99,100,816 (GRCm39)	missense	probably damaging	0.98
R1695:Dusp6	UTSW	10	99,099,555 (GRCm39)	start codon destroyed	probably null	0.99
R2078:Dusp6	UTSW	10	99,099,686 (GRCm39)	missense	probably damaging	1.00
R2899:Dusp6	UTSW	10	99,099,707 (GRCm39)	missense	probably damaging	1.00
R3162:Dusp6	UTSW	10	99,099,944 (GRCm39)	missense	probably damaging	1.00
R3162:Dusp6	UTSW	10	99,099,944 (GRCm39)	missense	probably damaging	1.00
R4413:Dusp6	UTSW	10	99,099,786 (GRCm39)	missense	probably damaging	1.00
R4501:Dusp6	UTSW	10	99,100,457 (GRCm39)	missense	probably benign	0.41
R5175:Dusp6	UTSW	10	99,099,864 (GRCm39)	missense	possibly damaging	0.91
R5381:Dusp6	UTSW	10	99,102,129 (GRCm39)	missense	possibly damaging	0.46
R5560:Dusp6	UTSW	10	99,102,103 (GRCm39)	missense	probably damaging	0.97
R5820:Dusp6	UTSW	10	99,099,864 (GRCm39)	missense	possibly damaging	0.91
R7359:Dusp6	UTSW	10	99,099,927 (GRCm39)	missense	probably benign	0.01
R7398:Dusp6	UTSW	10	99,100,740 (GRCm39)	missense	probably damaging	1.00
R8075:Dusp6	UTSW	10	99,100,810 (GRCm39)	missense	possibly damaging	0.63
R8491:Dusp6	UTSW	10	99,102,081 (GRCm39)	missense	possibly damaging	0.66
R8826:Dusp6	UTSW	10	99,099,469 (GRCm39)	start gained	probably benign
R9084:Dusp6	UTSW	10	99,099,692 (GRCm39)	missense	probably benign	0.13
R9389:Dusp6	UTSW	10	99,099,839 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GCATTGCTTGGCAGGTATC -3'
(R):5'- ACACAGACAGCTGGTGACAC -3'

Sequencing Primer
(F):5'- AGGTATCAGCCGCTCTGTCAC -3'
(R):5'- CAGACAGCTGGTGACACTTTTGAC -3'

Posted On

2022-01-20