Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01104:Dusp12'

50274

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dusp12

Ensembl Gene

ENSMUSG00000026659

Gene Name

dual specificity phosphatase 12

Synonyms

T-DSP4, LMW-DSP4, VH1, 1190004O14Rik, ESTM36, mVH1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01104

Quality Score

Status

Chromosome

Chromosomal Location

170701756-170713109 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 170702042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 319 (H319P)

Ref Sequence

ENSEMBL: ENSMUSP00000027970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027970] [ENSMUST00000046476] [ENSMUST00000163252] [ENSMUST00000170420]

AlphaFold

Q9D0T2

Predicted Effect

probably damaging
Transcript: ENSMUST00000027970
AA Change: H319P

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

SMART Domains

Protein: ENSMUSP00000027970
Gene: ENSMUSG00000026659
AA Change: H319P

Domain	Start	End	E-Value	Type
DSPc	26	167	1.23e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000046476

SMART Domains

Protein: ENSMUSP00000044320
Gene: ENSMUSG00000026659

Domain	Start	End	E-Value	Type
DSPc	26	157	5.96e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163252

SMART Domains

Protein: ENSMUSP00000126676
Gene: ENSMUSG00000026659

Domain	Start	End	E-Value	Type
Pfam:DSPc	30	115	2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166393

SMART Domains

Protein: ENSMUSP00000130507
Gene: ENSMUSG00000026659

Domain	Start	End	E-Value	Type
Pfam:DSPc	31	121	8.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170420

SMART Domains

Protein: ENSMUSP00000129515
Gene: ENSMUSG00000026659

Domain	Start	End	E-Value	Type
PTPc_DSPc	26	136	4e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171447

SMART Domains

Protein: ENSMUSP00000130683
Gene: ENSMUSG00000026659

Domain	Start	End	E-Value	Type
Pfam:DSPc	3	98	6.9e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171747

Coding Region Coverage

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 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 is the human ortholog of the Saccharomyces cerevisiae YVH1 protein tyrosine phosphatase. It is localized predominantly in the nucleus, and is novel in that it contains, and is regulated by a zinc finger domain. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	T	A	1: 89,653,797 (GRCm39)		probably benign	Het
AU015836	A	T	X: 93,015,493 (GRCm39)	D15V	probably damaging	Het
Capns2	G	T	8: 93,628,383 (GRCm39)	D91Y	probably damaging	Het
Chd6	C	T	2: 160,803,847 (GRCm39)	R2071Q	probably damaging	Het
Col4a4	G	T	1: 82,444,266 (GRCm39)	P1334T	unknown	Het
Emilin3	A	T	2: 160,751,703 (GRCm39)	V112E	probably damaging	Het
Eya3	T	A	4: 132,439,240 (GRCm39)	F455L	probably damaging	Het
F10	G	A	8: 13,105,686 (GRCm39)	G417D	probably damaging	Het
Fat3	A	C	9: 16,287,024 (GRCm39)	V833G	possibly damaging	Het
Fat3	A	T	9: 15,909,756 (GRCm39)	L2082H	probably damaging	Het
Golga5	T	A	12: 102,460,073 (GRCm39)	M667K	probably damaging	Het
Gpr50	T	A	X: 70,710,833 (GRCm39)	L305H	probably damaging	Het
Grhl1	A	G	12: 24,634,453 (GRCm39)	K217R	probably damaging	Het
Itgb2	A	G	10: 77,383,028 (GRCm39)		probably null	Het
Jag1	T	A	2: 136,926,298 (GRCm39)	I1035L	probably benign	Het
Kdm2a	A	G	19: 4,406,766 (GRCm39)		probably benign	Het
Lima1	A	C	15: 99,741,581 (GRCm39)	S32A	probably damaging	Het
Lmod1	C	T	1: 135,292,522 (GRCm39)	T459I	probably damaging	Het
Mtch1	T	C	17: 29,555,196 (GRCm39)	D284G	probably damaging	Het
Mtus2	C	T	5: 148,013,819 (GRCm39)		probably null	Het
Or7c19	A	G	8: 85,957,813 (GRCm39)	T230A	probably benign	Het
Ppl	T	C	16: 4,912,355 (GRCm39)	Q742R	probably benign	Het
Reln	T	C	5: 22,191,965 (GRCm39)	R1492G	probably damaging	Het
Rsad1	T	C	11: 94,434,466 (GRCm39)	T323A	possibly damaging	Het
Slc22a8	A	G	19: 8,585,329 (GRCm39)	T293A	possibly damaging	Het
Smc4	T	C	3: 68,934,917 (GRCm39)	I677T	possibly damaging	Het
Ufd1	T	C	16: 18,633,587 (GRCm39)	F4S	probably damaging	Het
Usp9x	T	C	X: 13,027,142 (GRCm39)	V16A	probably damaging	Het
Vmn2r31	A	T	7: 7,399,565 (GRCm39)	C131S	probably damaging	Het
Vmn2r65	A	G	7: 84,589,996 (GRCm39)	I640T	possibly damaging	Het
Vwf	T	C	6: 125,660,519 (GRCm39)	C2676R	probably damaging	Het

Other mutations in Dusp12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02718:Dusp12	APN	1	170,708,226 (GRCm39)	missense	probably damaging	1.00
P0028:Dusp12	UTSW	1	170,707,386 (GRCm39)	nonsense	probably null
R0040:Dusp12	UTSW	1	170,708,226 (GRCm39)	missense	probably damaging	1.00
R0040:Dusp12	UTSW	1	170,708,226 (GRCm39)	missense	probably damaging	1.00
R1114:Dusp12	UTSW	1	170,708,586 (GRCm39)	missense	probably damaging	1.00
R1833:Dusp12	UTSW	1	170,702,022 (GRCm39)	missense	probably benign
R1850:Dusp12	UTSW	1	170,708,198 (GRCm39)	missense	probably benign	0.12
R2138:Dusp12	UTSW	1	170,708,166 (GRCm39)	nonsense	probably null
R2260:Dusp12	UTSW	1	170,708,580 (GRCm39)	missense	probably damaging	1.00
R3972:Dusp12	UTSW	1	170,707,344 (GRCm39)	missense	probably damaging	0.98
R4298:Dusp12	UTSW	1	170,708,198 (GRCm39)	missense	probably benign	0.12
R4803:Dusp12	UTSW	1	170,708,175 (GRCm39)	missense	possibly damaging	0.51
R6639:Dusp12	UTSW	1	170,708,243 (GRCm39)	missense	probably damaging	1.00
R6674:Dusp12	UTSW	1	170,707,317 (GRCm39)	missense	probably benign	0.13
R6981:Dusp12	UTSW	1	170,708,530 (GRCm39)	missense	probably damaging	1.00
R7432:Dusp12	UTSW	1	170,707,345 (GRCm39)	nonsense	probably null
R7861:Dusp12	UTSW	1	170,702,095 (GRCm39)	nonsense	probably null

Posted On

2013-06-21