Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4504001:Dusp16'

556007

Institutional Source

Beutler Lab

Gene Symbol

Dusp16

Ensembl Gene

ENSMUSG00000030203

Gene Name

dual specificity phosphatase 16

Synonyms

3830417M17Rik, D6Ertd213e, MKP7, MKP-7

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.859) question?

Stock #

PIT4504001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134715468-134792625 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 134739883 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 154 (V154F)

Ref Sequence

ENSEMBL: ENSMUSP00000098419 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100857] [ENSMUST00000129433] [ENSMUST00000149776] [ENSMUST00000204083]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100857
AA Change: V154F

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098419
Gene: ENSMUSG00000030203
AA Change: V154F

Domain	Start	End	E-Value	Type
RHOD	12	134	5.58e-16	SMART
DSPc	158	297	1.66e-68	SMART
Blast:DSPc	576	621	9e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000129433
AA Change: V154F

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115925
Gene: ENSMUSG00000030203
AA Change: V154F

Domain	Start	End	E-Value	Type
Blast:RHOD	1	67	8e-41	BLAST
PDB:2VSW\|B	1	83	1e-52	PDB
DSPc	91	232	3.73e-44	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148926

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149776
AA Change: V154F

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144784
Gene: ENSMUSG00000030203
AA Change: V154F

Domain	Start	End	E-Value	Type
RHOD	12	134	5.58e-16	SMART
Blast:DSPc	158	203	2e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000204083

SMART Domains

Protein: ENSMUSP00000144834
Gene: ENSMUSG00000030203

Domain	Start	End	E-Value	Type
RHOD	12	124	1.5e-8	SMART

Coding Region Coverage

1x: 92.8%
3x: 90.6%
10x: 84.7%
20x: 71.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitogen-activated protein kinase phosphatase that 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. The encoded protein specifically regulates the c-Jun amino-terminal kinase (JNK) and extracellular signal-regulated kinase (ERK) pathways.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit complete neonatal lethality and decreased birth weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	A	2: 103,717,192	C970*	probably null	Het
Adgrv1	G	A	13: 81,559,352	P1312S	probably damaging	Het
Als2cr12	T	A	1: 58,659,099	I348F	probably benign	Het
Arid5a	T	C	1: 36,317,625	I116T	probably damaging	Het
Bank1	C	A	3: 136,100,419	D485Y	probably damaging	Het
Cbln3	C	T	14: 55,883,499	V122M	probably damaging	Het
Cox10	C	T	11: 63,964,216	C413Y	possibly damaging	Het
Ctsll3	T	A	13: 60,801,009	D44V	probably benign	Het
Cuzd1	A	T	7: 131,309,800	N483K	possibly damaging	Het
Dcaf4	G	A	12: 83,534,011		probably null	Het
Ddx60	A	G	8: 61,958,113	T470A	probably benign	Het
Dennd1b	T	C	1: 139,040,004	V44A	probably benign	Het
Ect2	G	A	3: 27,126,948	R586*	probably null	Het
Ermard	T	A	17: 15,058,822	C460*	probably null	Het
Fat2	C	T	11: 55,256,110	G4020D	possibly damaging	Het
Galnt16	G	T	12: 80,592,417	E402*	probably null	Het
Gm5414	T	G	15: 101,625,823	D282A	probably damaging	Het
Gm6741	C	T	17: 91,236,916	Q36*	probably null	Het
Gm7356	A	T	17: 14,001,458	L103Q	probably damaging	Het
Hcn1	A	G	13: 117,975,875	T792A	possibly damaging	Het
Hemgn	T	C	4: 46,395,863	N458D	probably benign	Het
Hesx1	C	A	14: 27,001,881	D140E	probably benign	Het
Hfe2	A	T	3: 96,528,497	D357V	probably damaging	Het
Hmgcr	A	G	13: 96,663,097	I163T	possibly damaging	Het
Igfbpl1	T	C	4: 45,813,469	T249A	possibly damaging	Het
Il33	A	T	19: 29,952,739	H78L	probably benign	Het
Inpp4b	A	T	8: 82,041,935	D691V	probably damaging	Het
Itpr2	T	A	6: 146,229,871	N1945I	probably damaging	Het
Lnpep	A	G	17: 17,579,027	V122A	probably benign	Het
Lrp2	T	C	2: 69,475,403	D2938G	probably damaging	Het
Lrrc8c	A	T	5: 105,608,537	Y726F	probably benign	Het
Magi3	G	T	3: 104,015,526	Q1292K	probably benign	Het
Mllt3	A	C	4: 87,774,087	F546L	probably damaging	Het
Mrpl14	A	G	17: 45,698,221	K82R	probably benign	Het
Noxred1	A	G	12: 87,224,879	V172A	possibly damaging	Het
Obscn	A	T	11: 59,133,122	I574N	probably damaging	Het
Olfr133	A	G	17: 38,149,169	T194A	probably benign	Het
Olfr175-ps1	T	A	16: 58,824,308	T134S	probably benign	Het
Osbpl11	T	A	16: 33,234,494	V649D	probably benign	Het
Pdlim2	G	T	14: 70,166,130	P278T	probably benign	Het
Pm20d2	A	C	4: 33,183,152	L223V	probably damaging	Het
Pmpcb	G	T	5: 21,743,390	R223L	probably damaging	Het
Pole2	A	T	12: 69,209,985	Y255*	probably null	Het
Rims1	T	A	1: 22,397,460	I317L		Het
Scnn1g	C	A	7: 121,742,331	H239N	probably benign	Het
Spag17	A	G	3: 100,103,110		probably null	Het
Tenm3	A	T	8: 48,293,657	F1038I	probably damaging	Het
Tshz2	T	C	2: 169,886,051	F856L	probably damaging	Het
Ubtf	A	G	11: 102,306,682	S715P	unknown	Het
Usp13	A	C	3: 32,905,430	S557R	probably damaging	Het
Usp19	T	A	9: 108,492,970	S43T	probably benign	Het
Vmn2r7	A	T	3: 64,715,976	Y308N	probably benign	Het
Zfp455	A	G	13: 67,198,621	D32G	probably damaging	Het
Zfp512	T	A	5: 31,476,881		probably null	Het
Zfr	A	G	15: 12,166,158	E838G	possibly damaging	Het

Other mutations in Dusp16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Dusp16	APN	6	134725949	missense	probably benign	0.13
IGL01305:Dusp16	APN	6	134718861	missense	probably benign	0.03
IGL01331:Dusp16	APN	6	134718104	missense	possibly damaging	0.53
IGL02535:Dusp16	APN	6	134718827	missense	probably benign
IGL02606:Dusp16	APN	6	134761036	missense	probably damaging	0.96
IGL02696:Dusp16	APN	6	134718435	missense	probably damaging	0.99
ANU22:Dusp16	UTSW	6	134718861	missense	probably benign	0.03
PIT4469001:Dusp16	UTSW	6	134761152	unclassified	probably benign
R0492:Dusp16	UTSW	6	134718402	missense	probably benign
R0578:Dusp16	UTSW	6	134718321	missense	probably damaging	1.00
R1630:Dusp16	UTSW	6	134720561	missense	probably damaging	1.00
R1962:Dusp16	UTSW	6	134718136	nonsense	probably null
R2004:Dusp16	UTSW	6	134718839	missense	probably benign
R3690:Dusp16	UTSW	6	134761119	unclassified	probably benign
R3730:Dusp16	UTSW	6	134718861	missense	probably benign
R5778:Dusp16	UTSW	6	134718314	missense	probably benign	0.01
R6267:Dusp16	UTSW	6	134720493	critical splice donor site	probably null
R6296:Dusp16	UTSW	6	134720493	critical splice donor site	probably null
R6860:Dusp16	UTSW	6	134725879	nonsense	probably null
R7248:Dusp16	UTSW	6	134718977	missense	probably benign	0.01
R7645:Dusp16	UTSW	6	134725925	missense	probably damaging	0.97
R8108:Dusp16	UTSW	6	134739873	missense	probably benign
R8743:Dusp16	UTSW	6	134717970	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- GTCACACTGACAATGTTTCCC -3'
(R):5'- ACCTGCTTGCATCTGTACCG -3'

Sequencing Primer
(F):5'- GACAATGTTTCCCCCTTTCTGG -3'
(R):5'- GCATCTGTACCGTCTGATTTTTCTG -3'

Posted On

2019-06-07