Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01090:Dusp16'

51291

Institutional Source

Australian Phenomics Network (link to record)

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: 0.854) question?

Stock #

IGL01090

Quality Score

Status

Chromosome

Chromosomal Location

134715468-134792625 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134725949 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 193 (N193S)

Ref Sequence

ENSEMBL: ENSMUSP00000115925 (fasta)

Gene Model

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

AlphaFold

Q6PCP3

Predicted Effect

probably benign
Transcript: ENSMUST00000100857
AA Change: N193S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000098419
Gene: ENSMUSG00000030203
AA Change: N193S

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: N193S

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115925
Gene: ENSMUSG00000030203
AA Change: N193S

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

noncoding transcript
Transcript: ENSMUST00000203452

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203651

Predicted Effect

silent
Transcript: ENSMUST00000204083

SMART Domains

Protein: ENSMUSP00000144834
Gene: ENSMUSG00000030203

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

Coding Region Coverage

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,919,118	S316P	possibly damaging	Het
Actn1	A	T	12: 80,199,072		probably null	Het
Agbl3	T	C	6: 34,799,887	Y443H	probably benign	Het
Akap13	T	A	7: 75,666,531	D578E	probably benign	Het
Aldoa	A	T	7: 126,796,035	H292Q	probably benign	Het
Als2	T	C	1: 59,215,616	K194R	possibly damaging	Het
Bivm	C	A	1: 44,129,291	H244N	probably damaging	Het
Cabp5	G	A	7: 13,405,487	E146K	probably damaging	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Clcn4	A	G	7: 7,294,036	V129A	probably benign	Het
Clec4g	A	G	8: 3,719,482	S54P	probably damaging	Het
Crim1	G	T	17: 78,347,229	V645L	probably damaging	Het
Csta1	T	C	16: 36,125,051	T31A	probably damaging	Het
D930048N14Rik	T	C	11: 51,653,783		probably benign	Het
Dhx34	G	T	7: 16,216,256	P329Q	probably damaging	Het
Fbn1	A	G	2: 125,394,776		probably benign	Het
Fbxo46	A	G	7: 19,136,803	Y449C	probably damaging	Het
Fmo4	C	A	1: 162,809,785		probably null	Het
Foxi3	C	A	6: 70,960,745	N320K	probably damaging	Het
Gm9964	A	G	11: 79,296,384	L79P	unknown	Het
Gpr161	T	C	1: 165,306,580	I137T	probably damaging	Het
Herc1	C	T	9: 66,469,175	Q3426*	probably null	Het
Hps5	C	T	7: 46,788,327	R108H	probably benign	Het
Itch	T	A	2: 155,206,336	V540E	probably damaging	Het
L3mbtl1	C	A	2: 162,966,005	P520H	probably damaging	Het
Mvp	A	G	7: 126,989,687	V636A	probably benign	Het
Odf4	A	G	11: 68,921,952		probably benign	Het
Olfr830	A	G	9: 18,876,242	K305R	probably benign	Het
Pld1	T	C	3: 28,088,667	S675P	probably benign	Het
Plod3	A	G	5: 136,990,236	D325G	probably benign	Het
Prss12	T	C	3: 123,482,739	V339A	possibly damaging	Het
Ptpn13	T	A	5: 103,541,314	L991Q	probably null	Het
Ptpn3	T	A	4: 57,240,833	I261F	probably damaging	Het
Rab3gap1	T	C	1: 127,930,387		probably benign	Het
Rasa4	A	G	5: 136,101,993	R373G	possibly damaging	Het
Rmi1	T	C	13: 58,409,394	S486P	probably damaging	Het
Slc25a23	A	G	17: 57,047,233	I139T	probably benign	Het
Sspo	T	A	6: 48,490,125	S4017T	probably benign	Het
Tcaf1	C	A	6: 42,686,622	C108F	probably benign	Het
Tnc	T	C	4: 64,000,080	Q1198R	probably damaging	Het
Tnni3k	G	T	3: 154,939,683	Q522K	possibly damaging	Het
Trio	T	A	15: 27,773,007	E713V	probably damaging	Het
Ugt2b34	C	A	5: 86,893,820	V338F	probably damaging	Het
Usp40	T	A	1: 87,962,465	M892L	probably benign	Het
Usp54	A	T	14: 20,586,157		probably benign	Het
Vmn2r53	T	C	7: 12,600,908	E275G	possibly damaging	Het
Vmn2r87	A	G	10: 130,497,378	M1T	probably null	Het
Wdr66	A	C	5: 123,279,989		probably benign	Het
Wdr83os	A	T	8: 85,081,847	D76V	probably damaging	Het

Other mutations in Dusp16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
PIT4504001:Dusp16	UTSW	6	134739883	missense	possibly damaging	0.90
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
R8824:Dusp16	UTSW	6	134739769	missense	probably benign
R8934:Dusp16	UTSW	6	134741676	intron	probably benign
R9328:Dusp16	UTSW	6	134739939	missense	probably damaging	1.00
R9364:Dusp16	UTSW	6	134719019	missense	probably damaging	1.00
R9430:Dusp16	UTSW	6	134760866	missense	probably damaging	1.00

Posted On

2013-06-21