Mutagenetix > Incidental Mutation

Incidental Mutation 'R1833:Dusp12'

204916

Institutional Source

Beutler Lab

Gene Symbol

Dusp12

Ensembl Gene

ENSMUSG00000026659

Gene Name

dual specificity phosphatase 12

Synonyms

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

MMRRC Submission

039860-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

170701756-170713109 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 170702022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 326 (M326V)

Ref Sequence

ENSEMBL: ENSMUSP00000027970 (fasta)

Gene Model

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

AlphaFold

Q9D0T2

Predicted Effect

probably benign
Transcript: ENSMUST00000027970
AA Change: M326V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027970
Gene: ENSMUSG00000026659
AA Change: M326V

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

Meta Mutation Damage Score

0.0593

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

Validation Efficiency

99% (83/84)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,350,509 (GRCm39)	D143V	unknown	Het
4930438A08Rik	C	T	11: 58,179,214 (GRCm39)	Q183*	probably null	Het
9230009I02Rik	A	G	11: 50,982,293 (GRCm39)		noncoding transcript	Het
Abhd12	T	A	2: 150,690,338 (GRCm39)	D119V	probably damaging	Het
Adam1b	A	G	5: 121,641,000 (GRCm39)	I15T	possibly damaging	Het
Agtpbp1	A	T	13: 59,613,797 (GRCm39)		probably null	Het
Arfgef1	G	C	1: 10,275,115 (GRCm39)	I312M	probably benign	Het
Arid4a	C	T	12: 71,122,240 (GRCm39)	L874F	possibly damaging	Het
Bcas3	G	A	11: 85,474,775 (GRCm39)	V317I	probably benign	Het
Ccr1	T	A	9: 123,764,126 (GRCm39)	I135F	probably damaging	Het
Ces2h	A	G	8: 105,747,005 (GRCm39)	E547G	possibly damaging	Het
Ces3b	T	A	8: 105,812,271 (GRCm39)	D173E	probably damaging	Het
Chd3	A	G	11: 69,244,949 (GRCm39)	L1197S	probably damaging	Het
Cngb1	A	G	8: 95,968,983 (GRCm39)	L1175P	probably damaging	Het
Cyp4f17	T	C	17: 32,743,184 (GRCm39)	F286L	probably benign	Het
Dclre1a	C	T	19: 56,529,932 (GRCm39)		probably null	Het
Dennd6a	T	A	14: 26,328,109 (GRCm39)	L44H	probably damaging	Het
Dhx16	A	G	17: 36,196,511 (GRCm39)	T560A	probably benign	Het
Eif3k	T	C	7: 28,670,852 (GRCm39)	I180V	probably benign	Het
Erc1	A	G	6: 119,720,390 (GRCm39)	I437T	possibly damaging	Het
Farp2	T	A	1: 93,504,086 (GRCm39)		probably benign	Het
Foxa3	A	G	7: 18,748,499 (GRCm39)	L209P	probably damaging	Het
Garin2	G	A	12: 78,762,280 (GRCm39)		probably benign	Het
Gen1	A	T	12: 11,298,352 (GRCm39)		probably benign	Het
Gm10305	A	G	4: 99,161,363 (GRCm39)	T91A	unknown	Het
Gm14412	T	C	2: 177,007,583 (GRCm39)	D104G	probably benign	Het
Gm6900	T	C	7: 10,390,515 (GRCm39)		noncoding transcript	Het
Gpx1	A	T	9: 108,216,555 (GRCm39)	Y15F	possibly damaging	Het
H2-M10.3	T	C	17: 36,678,387 (GRCm39)	Y146C	probably damaging	Het
H2-Q7	C	A	17: 35,658,675 (GRCm39)	S104R	probably benign	Het
Hephl1	T	C	9: 14,988,224 (GRCm39)	Y628C	probably damaging	Het
Hspa5	T	A	2: 34,666,065 (GRCm39)	Y636*	probably null	Het
Htt	A	G	5: 35,063,092 (GRCm39)		probably benign	Het
Idh1	T	C	1: 65,200,273 (GRCm39)	I364V	probably benign	Het
Itgae	G	T	11: 73,007,988 (GRCm39)	A423S	possibly damaging	Het
Kng2	T	C	16: 22,830,802 (GRCm39)	N169S	possibly damaging	Het
Larp4b	C	T	13: 9,201,235 (GRCm39)	T369I	possibly damaging	Het
Lcor	T	C	19: 41,573,387 (GRCm39)	I714T	probably benign	Het
Lhfpl7	A	G	5: 113,382,435 (GRCm39)		probably benign	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Magi2	G	T	5: 19,432,455 (GRCm39)	G57C	probably damaging	Het
Mdn1	T	A	4: 32,720,761 (GRCm39)	H2291Q	probably damaging	Het
Mgam	T	C	6: 40,631,652 (GRCm39)		probably null	Het
Micall2	A	G	5: 139,702,508 (GRCm39)	V245A	probably benign	Het
Mipep	T	G	14: 61,109,512 (GRCm39)	Y630D	probably damaging	Het
Msx2	A	T	13: 53,622,221 (GRCm39)	M263K	probably damaging	Het
Nectin2	G	T	7: 19,451,633 (GRCm39)	P467H	probably damaging	Het
Nek10	A	T	14: 14,842,789 (GRCm38)	M165L	probably benign	Het
Nlrp4b	A	T	7: 10,459,863 (GRCm39)	M455L	probably benign	Het
Oaz3	TGGAGGCAGGAGCACGGGAGGCAGGAGCACGGGAGGCAG	TGGAGGCAGGAGCACGGGAGGCAG	3: 94,343,349 (GRCm39)		probably benign	Het
Or10ad1b	T	A	15: 98,124,846 (GRCm39)	I227F	probably damaging	Het
Or4c10	T	A	2: 89,760,645 (GRCm39)	L164*	probably null	Het
Pcx	T	A	19: 4,669,132 (GRCm39)	V710E	probably damaging	Het
Pkn2	C	T	3: 142,527,408 (GRCm39)	R347Q	probably damaging	Het
Pramel51	T	C	12: 88,145,218 (GRCm39)	E44G	possibly damaging	Het
Qsox1	C	T	1: 155,666,791 (GRCm39)	G233S	probably benign	Het
Rbl1	T	A	2: 157,037,475 (GRCm39)	N224I	probably damaging	Het
Rspry1	A	G	8: 95,362,116 (GRCm39)	T132A	probably damaging	Het
Sclt1	A	G	3: 41,681,546 (GRCm39)	V91A	probably damaging	Het
Sema4f	A	T	6: 82,895,540 (GRCm39)	L331H	probably benign	Het
Sf3b3	T	A	8: 111,544,198 (GRCm39)	Q814L	probably benign	Het
Slc19a2	T	G	1: 164,089,753 (GRCm39)	Y190D	probably damaging	Het
Smarcc1	T	A	9: 109,982,879 (GRCm39)	H204Q	possibly damaging	Het
Sox6	T	C	7: 115,376,328 (GRCm39)	K135E	probably damaging	Het
Tecpr1	T	C	5: 144,145,426 (GRCm39)	Q607R	probably damaging	Het
Tgfb1i1	A	G	7: 127,848,670 (GRCm39)		probably benign	Het
Tirap	T	G	9: 35,099,999 (GRCm39)	R228S	probably benign	Het
Trp53bp2	T	A	1: 182,256,581 (GRCm39)	H50Q	probably damaging	Het
Try4	A	G	6: 41,280,365 (GRCm39)	H63R	probably damaging	Het
Vmn2r25	G	A	6: 123,816,643 (GRCm39)	P313S	probably benign	Het
Vps26a	A	C	10: 62,294,825 (GRCm39)	L250V	probably benign	Het
Vwf	A	G	6: 125,619,000 (GRCm39)	H1226R	probably benign	Het
Wdtc1	TCC	TC	4: 133,036,053 (GRCm39)		probably benign	Het
Zc3hav1l	A	T	6: 38,274,881 (GRCm39)		probably benign	Het
Zfp119b	T	G	17: 56,246,271 (GRCm39)	H305P	probably damaging	Het
Zfp326	C	T	5: 106,039,035 (GRCm39)	Q134*	probably null	Het
Zfp975	C	T	7: 42,311,263 (GRCm39)	R450Q	probably benign	Het
Zfyve26	A	T	12: 79,333,032 (GRCm39)	M313K	probably benign	Het
Zscan5b	T	C	7: 6,241,965 (GRCm39)	S395P	possibly damaging	Het

Other mutations in Dusp12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01104:Dusp12	APN	1	170,702,042 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AACCCACAGCTGTTACAGTC -3'
(R):5'- TACAAATTCCTCGATGACAGGAAC -3'

Sequencing Primer
(F):5'- TCACAGGATCTAGCCCAA -3'
(R):5'- TCGTCAAAGATAGTTGCTGAACGTG -3'

Posted On

2014-06-23