Mutagenetix > Incidental Mutation

Incidental Mutation 'R8743:Dusp16'

663341

Institutional Source

Beutler Lab

Gene Symbol

Dusp16

Ensembl Gene

ENSMUSG00000030203

Gene Name

dual specificity phosphatase 16

Synonyms

MKP-7, MKP7, D6Ertd213e, 3830417M17Rik

MMRRC Submission

068588-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.890) question?

Stock #

R8743 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134692431-134769588 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 134694933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 633 (S633T)

Ref Sequence

ENSEMBL: ENSMUSP00000098419 (fasta)

Gene Model

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

AlphaFold

Q6PCP3

Predicted Effect

probably benign
Transcript: ENSMUST00000100857
AA Change: S633T

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000098419
Gene: ENSMUSG00000030203
AA Change: S633T

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: S311T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000115925
Gene: ENSMUSG00000030203
AA Change: S311T

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

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: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.7%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 25,276,264 (GRCm39)	C468S	probably damaging	Het
Adamts7	G	A	9: 90,077,296 (GRCm39)	R1321H	probably damaging	Het
Adra2c	T	C	5: 35,437,792 (GRCm39)	V188A	possibly damaging	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Ap1g1	A	G	8: 110,564,423 (GRCm39)	N323D	probably damaging	Het
Arhgap15	A	T	2: 43,638,876 (GRCm39)		probably benign	Het
Arhgef33	T	C	17: 80,667,882 (GRCm39)		probably null	Het
Armc1	C	T	3: 19,211,700 (GRCm39)	C40Y	probably benign	Het
Arsk	C	A	13: 76,214,928 (GRCm39)	V309F	probably damaging	Het
Atp4b	A	T	8: 13,443,489 (GRCm39)	M63K	probably damaging	Het
Cacna1s	T	C	1: 136,033,286 (GRCm39)	L1237P	probably damaging	Het
Ccnt2	A	G	1: 127,702,020 (GRCm39)	E19G	probably damaging	Het
Ccr2	A	C	9: 123,906,131 (GRCm39)	Y137S	probably damaging	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Cfh	A	T	1: 140,046,323 (GRCm39)		probably null	Het
Chd5	T	A	4: 152,450,862 (GRCm39)	V662E	probably benign	Het
Cnga4	A	G	7: 105,057,220 (GRCm39)	D544G	probably benign	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Coro6	T	A	11: 77,357,265 (GRCm39)	I158N	probably damaging	Het
Cpa1	A	G	6: 30,642,992 (GRCm39)	S307G	probably damaging	Het
Depdc5	T	A	5: 33,081,587 (GRCm39)	M583K	probably benign	Het
Dock2	G	T	11: 34,223,252 (GRCm39)	S1170*	probably null	Het
Esco1	T	C	18: 10,572,123 (GRCm39)	E739G	probably damaging	Het
Fam193a	T	A	5: 34,577,501 (GRCm39)		probably null	Het
Fat4	G	A	3: 38,942,592 (GRCm39)	S495N	probably benign	Het
Galnt10	A	G	11: 57,675,409 (GRCm39)	Y556C	probably damaging	Het
Garin5b	T	A	7: 4,760,814 (GRCm39)	T633S		Het
Gc	A	T	5: 89,591,311 (GRCm39)	D142E	probably benign	Het
Gda	A	T	19: 21,377,952 (GRCm39)	F369Y	probably damaging	Het
Glce	A	T	9: 61,968,103 (GRCm39)	S349R	probably benign	Het
Glp2r	A	G	11: 67,612,901 (GRCm39)	L351P	probably damaging	Het
Gtf2h5	C	CA	17: 6,134,833 (GRCm39)		probably null	Het
Gxylt2	A	T	6: 100,764,284 (GRCm39)	Y323F	probably benign	Het
Hmmr	T	C	11: 40,598,858 (GRCm39)	N589D	probably damaging	Het
Hsd17b3	A	C	13: 64,210,712 (GRCm39)	D214E	probably benign	Het
Kat6a	A	G	8: 23,429,022 (GRCm39)	D1459G	possibly damaging	Het
Lad1	G	A	1: 135,758,933 (GRCm39)	R465H	probably benign	Het
Lcmt1	T	A	7: 122,999,691 (GRCm39)	D46E	probably damaging	Het
Map4k1	G	A	7: 28,686,542 (GRCm39)	D155N	probably damaging	Het
Mylk	G	T	16: 34,741,427 (GRCm39)	R796L	probably benign	Het
Nat8l	T	A	5: 34,154,510 (GRCm39)	L108Q	probably damaging	Het
Nlrp5	T	C	7: 23,118,172 (GRCm39)	V632A	probably benign	Het
Nr3c2	A	G	8: 77,636,387 (GRCm39)	E496G	probably damaging	Het
Nucb2	A	G	7: 116,128,065 (GRCm39)	D258G	probably damaging	Het
Or8b12	G	T	9: 37,658,174 (GRCm39)	C248F	probably benign	Het
Or8b56	A	T	9: 38,738,995 (GRCm39)	I3F	probably benign	Het
Papln	A	G	12: 83,829,764 (GRCm39)	K962E	probably damaging	Het
Pcdha8	T	A	18: 37,127,372 (GRCm39)	M618K	probably benign	Het
Pclo	A	G	5: 14,764,580 (GRCm39)	D1066G		Het
Phip	A	T	9: 82,809,140 (GRCm39)	M446K	probably benign	Het
Pkn3	A	G	2: 29,973,318 (GRCm39)	K380R	probably benign	Het
Potefam1	T	C	2: 111,000,017 (GRCm39)	T198A	unknown	Het
Ppa1	C	A	10: 61,496,758 (GRCm39)	A82E	possibly damaging	Het
Prune2	A	C	19: 17,096,920 (GRCm39)	D808A	probably benign	Het
Psme4	T	G	11: 30,828,467 (GRCm39)	L1829R	probably damaging	Het
Rtp4	A	C	16: 23,431,866 (GRCm39)	K133Q	possibly damaging	Het
Scaf11	C	T	15: 96,313,669 (GRCm39)	A1371T	probably benign	Het
Serpinb9g	A	T	13: 33,678,931 (GRCm39)	H267L	probably benign	Het
Slc47a2	T	G	11: 61,233,588 (GRCm39)	D6A	probably benign	Het
Slco1a4	A	T	6: 141,765,255 (GRCm39)	V329D	possibly damaging	Het
Smg6	T	C	11: 74,820,859 (GRCm39)	S377P	probably benign	Het
Spata31g1	A	G	4: 42,971,030 (GRCm39)	H121R	probably benign	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Taar2	A	T	10: 23,817,369 (GRCm39)	Y303F	probably damaging	Het
Tgm6	A	G	2: 129,985,418 (GRCm39)	D407G	probably damaging	Het
Twf2	A	G	9: 106,090,010 (GRCm39)	E153G	possibly damaging	Het
Upb1	A	G	10: 75,275,710 (GRCm39)	Y365C	probably damaging	Het
Vmn2r4	A	T	3: 64,317,247 (GRCm39)	S164T	possibly damaging	Het
Wtip	C	T	7: 33,824,979 (GRCm39)	G202R	possibly damaging	Het
Zfhx4	G	A	3: 5,309,084 (GRCm39)	C770Y	probably damaging	Het

Other mutations in Dusp16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Dusp16	APN	6	134,702,912 (GRCm39)	missense	probably benign	0.13
IGL01305:Dusp16	APN	6	134,695,824 (GRCm39)	missense	probably benign	0.03
IGL01331:Dusp16	APN	6	134,695,067 (GRCm39)	missense	possibly damaging	0.53
IGL02535:Dusp16	APN	6	134,695,790 (GRCm39)	missense	probably benign
IGL02606:Dusp16	APN	6	134,737,999 (GRCm39)	missense	probably damaging	0.96
IGL02696:Dusp16	APN	6	134,695,398 (GRCm39)	missense	probably damaging	0.99
ANU22:Dusp16	UTSW	6	134,695,824 (GRCm39)	missense	probably benign	0.03
PIT4469001:Dusp16	UTSW	6	134,738,115 (GRCm39)	unclassified	probably benign
PIT4504001:Dusp16	UTSW	6	134,716,846 (GRCm39)	missense	possibly damaging	0.90
R0492:Dusp16	UTSW	6	134,695,365 (GRCm39)	missense	probably benign
R0578:Dusp16	UTSW	6	134,695,284 (GRCm39)	missense	probably damaging	1.00
R1630:Dusp16	UTSW	6	134,697,524 (GRCm39)	missense	probably damaging	1.00
R1962:Dusp16	UTSW	6	134,695,099 (GRCm39)	nonsense	probably null
R2004:Dusp16	UTSW	6	134,695,802 (GRCm39)	missense	probably benign
R3690:Dusp16	UTSW	6	134,738,082 (GRCm39)	unclassified	probably benign
R3730:Dusp16	UTSW	6	134,695,824 (GRCm39)	missense	probably benign
R5778:Dusp16	UTSW	6	134,695,277 (GRCm39)	missense	probably benign	0.01
R6267:Dusp16	UTSW	6	134,697,456 (GRCm39)	critical splice donor site	probably null
R6296:Dusp16	UTSW	6	134,697,456 (GRCm39)	critical splice donor site	probably null
R6860:Dusp16	UTSW	6	134,702,842 (GRCm39)	nonsense	probably null
R7248:Dusp16	UTSW	6	134,695,940 (GRCm39)	missense	probably benign	0.01
R7645:Dusp16	UTSW	6	134,702,888 (GRCm39)	missense	probably damaging	0.97
R8108:Dusp16	UTSW	6	134,716,836 (GRCm39)	missense	probably benign
R8824:Dusp16	UTSW	6	134,716,732 (GRCm39)	missense	probably benign
R8934:Dusp16	UTSW	6	134,718,639 (GRCm39)	intron	probably benign
R9328:Dusp16	UTSW	6	134,716,902 (GRCm39)	missense	probably damaging	1.00
R9364:Dusp16	UTSW	6	134,695,982 (GRCm39)	missense	probably damaging	1.00
R9430:Dusp16	UTSW	6	134,737,829 (GRCm39)	missense	probably damaging	1.00
R9476:Dusp16	UTSW	6	134,695,226 (GRCm39)	missense	probably benign	0.07
R9510:Dusp16	UTSW	6	134,695,226 (GRCm39)	missense	probably benign	0.07
R9598:Dusp16	UTSW	6	134,695,185 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACTGTGTTGATCCATCTGTTGC -3'
(R):5'- TACTCTGCCTACAGCTGTGG -3'

Sequencing Primer
(F):5'- ATCTGTTGCTTTTATACCGTAGC -3'
(R):5'- GCCAGCTGCCCACTTGC -3'

Posted On

2021-03-08