Mutagenetix > Incidental Mutation

Incidental Mutation 'R9476:Dusp16'

715772

Institutional Source

Beutler Lab

Gene Symbol

Dusp16

Ensembl Gene

ENSMUSG00000030203

Gene Name

dual specificity phosphatase 16

Synonyms

MKP-7, MKP7, D6Ertd213e, 3830417M17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.880) question?

Stock #

R9476 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134692431-134769588 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134695226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 535 (H535R)

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: H535R

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000098419
Gene: ENSMUSG00000030203
AA Change: H535R

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

SMART Domains

Protein: ENSMUSP00000115925
Gene: ENSMUSG00000030203

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: 99.7%
20x: 98.9%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578G10Rik	T	G	4: 42,760,998 (GRCm39)	W6G	unknown	Het
Aatk	A	T	11: 119,901,094 (GRCm39)	C1101S	probably benign	Het
Abcb4	A	T	5: 8,977,790 (GRCm39)	D456V	probably damaging	Het
Abcc8	T	C	7: 45,819,270 (GRCm39)	E186G	possibly damaging	Het
Adam18	T	C	8: 25,115,807 (GRCm39)	N629S	probably benign	Het
Angpt2	T	G	8: 18,764,143 (GRCm39)	N133T	probably benign	Het
Ankrd13c	T	A	3: 157,697,396 (GRCm39)	S334T	probably benign	Het
Ankrd13d	A	T	19: 4,320,289 (GRCm39)	S151T	unknown	Het
Ap3d1	G	A	10: 80,545,655 (GRCm39)	P1025S	probably benign	Het
Bhlhe41	G	A	6: 145,808,948 (GRCm39)	A288V	possibly damaging	Het
Cacna1b	T	C	2: 24,540,058 (GRCm39)	E1467G	probably damaging	Het
Cacna1h	T	A	17: 25,611,524 (GRCm39)	T425S	probably damaging	Het
Cdk13	A	C	13: 17,902,747 (GRCm39)	C934W	probably damaging	Het
Ces1b	T	A	8: 93,799,890 (GRCm39)	N162I	probably damaging	Het
Clec9a	T	A	6: 129,398,023 (GRCm39)	I187K	possibly damaging	Het
Cpsf3	A	G	12: 21,350,080 (GRCm39)	I266M	probably damaging	Het
Cr2	G	T	1: 194,840,416 (GRCm39)	L509M	probably damaging	Het
Creb3l2	C	A	6: 37,311,446 (GRCm39)	G448W	probably damaging	Het
Csmd1	T	A	8: 15,981,215 (GRCm39)		probably null	Het
Cul9	G	A	17: 46,821,833 (GRCm39)	R1881W	probably damaging	Het
Cyth1	C	T	11: 118,076,206 (GRCm39)		probably null	Het
Dnhd1	A	T	7: 105,352,889 (GRCm39)	N2681Y	possibly damaging	Het
Dnm1	T	C	2: 32,213,739 (GRCm39)	M476V	probably benign	Het
Dnmt3a	A	G	12: 3,957,707 (GRCm39)	H896R	probably damaging	Het
Dock1	T	G	7: 134,592,279 (GRCm39)	I938S	probably benign	Het
Dock6	G	A	9: 21,724,821 (GRCm39)	L1515F	probably damaging	Het
Fancd2os	T	A	6: 113,574,994 (GRCm39)	Y4F	probably damaging	Het
Fat4	A	T	3: 39,037,886 (GRCm39)	Q3846L	probably benign	Het
Fbxw10	A	C	11: 62,743,814 (GRCm39)	H240P	probably benign	Het
Frmd4a	A	G	2: 4,608,324 (GRCm39)	T731A	probably benign	Het
Gm44501	T	A	17: 40,889,820 (GRCm39)	H111Q	possibly damaging	Het
Gsdmc	T	C	15: 63,650,551 (GRCm39)	M277V	probably benign	Het
Hira	A	G	16: 18,772,789 (GRCm39)	D867G	probably damaging	Het
Hmcn1	A	G	1: 150,462,127 (GRCm39)	S5184P	probably benign	Het
Ighv1-26	A	C	12: 114,752,407 (GRCm39)	F7V	probably benign	Het
Igkv4-81	C	T	6: 68,967,796 (GRCm39)	E102K	possibly damaging	Het
Inmt	G	T	6: 55,147,990 (GRCm39)	S213Y	possibly damaging	Het
Ints2	T	A	11: 86,135,335 (GRCm39)	M360L	probably benign	Het
Itih3	A	G	14: 30,631,416 (GRCm39)	S827P	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcnk12	C	A	17: 88,054,122 (GRCm39)	R180L	probably benign	Het
Kndc1	G	A	7: 139,510,031 (GRCm39)	S1291N	probably benign	Het
Mettl21a	T	C	1: 64,647,285 (GRCm39)	T91A	probably damaging	Het
Mmrn2	A	G	14: 34,120,407 (GRCm39)	I426V	possibly damaging	Het
Mrpl21	T	G	19: 3,337,704 (GRCm39)	V137G	probably damaging	Het
Nrbp2	T	C	15: 75,961,626 (GRCm39)	N218S	probably damaging	Het
Nrip1	T	C	16: 76,089,820 (GRCm39)	N579S	probably benign	Het
Nsf	T	C	11: 103,763,988 (GRCm39)	N365S	probably damaging	Het
Or6c5	A	G	10: 129,074,656 (GRCm39)	I213V	probably damaging	Het
Or7g28	A	T	9: 19,272,383 (GRCm39)	D89E	probably benign	Het
Osbpl3	C	T	6: 50,313,194 (GRCm39)		probably null	Het
Oscar	T	A	7: 3,614,843 (GRCm39)	H43L	probably benign	Het
Pam	C	T	1: 97,826,065 (GRCm39)		probably null	Het
Parn	A	T	16: 13,358,942 (GRCm39)	M600K	probably benign	Het
Pcdha11	C	A	18: 37,139,532 (GRCm39)	T387N	probably benign	Het
Plce1	G	A	19: 38,766,337 (GRCm39)	E2121K	possibly damaging	Het
Prune2	T	A	19: 17,096,706 (GRCm39)	Y737N	possibly damaging	Het
Ptch1	G	A	13: 63,681,448 (GRCm39)	P613L	probably benign	Het
Ptprt	A	C	2: 161,397,381 (GRCm39)	C1129G	probably damaging	Het
Rara	C	T	11: 98,860,983 (GRCm39)	S157L	probably benign	Het
Rest	T	A	5: 77,416,098 (GRCm39)	M104K	probably damaging	Het
Rfc1	A	G	5: 65,437,142 (GRCm39)	S513P	probably damaging	Het
Rnf40	T	A	7: 127,201,808 (GRCm39)	I1000N	probably damaging	Het
Scube2	C	T	7: 109,430,969 (GRCm39)	G410E	probably damaging	Het
Sh3gl2	A	G	4: 85,304,089 (GRCm39)	E264G	probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Smc4	T	G	3: 68,914,662 (GRCm39)	S92A	probably damaging	Het
Spata31d1b	A	G	13: 59,863,467 (GRCm39)	D205G	probably benign	Het
Spata31e4	A	G	13: 50,856,149 (GRCm39)	T596A	possibly damaging	Het
Spef2	T	C	15: 9,713,203 (GRCm39)	R390G	probably damaging	Het
Speg	T	C	1: 75,377,768 (GRCm39)	F842S	probably damaging	Het
Stk17b	G	T	1: 53,796,898 (GRCm39)	H290N	probably damaging	Het
Stpg3	A	T	2: 25,103,516 (GRCm39)	V191D	probably benign	Het
Supt6	C	T	11: 78,120,290 (GRCm39)	R350H	probably damaging	Het
Tet3	T	C	6: 83,380,935 (GRCm39)	E411G	possibly damaging	Het
Tet3	T	A	6: 83,381,808 (GRCm39)		probably null	Het
Tns3	A	G	11: 8,395,702 (GRCm39)	I1234T	probably damaging	Het
Trim34b	A	G	7: 103,980,503 (GRCm39)	E197G	probably damaging	Het
Vcan	G	T	13: 89,851,531 (GRCm39)	T1143K	possibly damaging	Het
Vmn2r61	T	A	7: 41,949,593 (GRCm39)	V671E	probably damaging	Het
Wdtc1	A	G	4: 133,049,529 (GRCm39)	V29A	probably damaging	Het
Zfp462	G	A	4: 55,080,735 (GRCm39)	M2450I	probably benign	Het
Zfp869	A	T	8: 70,159,849 (GRCm39)	C241*	probably null	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
R8743:Dusp16	UTSW	6	134,694,933 (GRCm39)	missense	probably benign	0.35
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
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'- AAAGGGGCTCTCTTCATGCC -3'
(R):5'- TTGCACTCAGTGAGAACCG -3'

Sequencing Primer
(F):5'- CTCGAGTCAGCTCTGTCAGTAG -3'
(R):5'- CACTCAGTGAGAACCGGCAGTAG -3'

Posted On

2022-06-15