Mutagenetix > Incidental Mutation

Incidental Mutation 'R8824:Dusp16'

673325

Institutional Source

Beutler Lab

Gene Symbol

Dusp16

Ensembl Gene

ENSMUSG00000030203

Gene Name

dual specificity phosphatase 16

Synonyms

3830417M17Rik, D6Ertd213e, MKP7, MKP-7

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.889) question?

Stock #

R8824 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134715468-134792625 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 134739769 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 192 (S192T)

Ref Sequence

ENSEMBL: ENSMUSP00000144784 (fasta)

Gene Model

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

AlphaFold

Q6PCP3

Predicted Effect

probably benign
Transcript: ENSMUST00000100857

SMART Domains

Protein: ENSMUSP00000098419
Gene: ENSMUSG00000030203

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: ENSMUST00000149776
AA Change: S192T

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

SMART Domains

Protein: ENSMUSP00000144784
Gene: ENSMUSG00000030203
AA Change: S192T

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (63/63)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,862,850	V260D	probably damaging	Het
Adora2a	G	A	10: 75,326,179	A51T	probably damaging	Het
Afg1l	G	A	10: 42,438,387	P128S	possibly damaging	Het
Ago4	C	A	4: 126,507,184	V623L	probably benign	Het
Akap11	A	T	14: 78,516,347	N112K		Het
C1ra	A	T	6: 124,517,695	I306F	probably damaging	Het
Ccdc73	A	G	2: 104,991,877	N724D	possibly damaging	Het
Cd248	A	G	19: 5,069,617	I498V	probably benign	Het
Clrn1	A	T	3: 58,884,893	S50T	probably benign	Het
Col7a1	A	G	9: 108,967,025	K1553R	unknown	Het
Cxcr6	A	C	9: 123,810,941	T343P	probably benign	Het
Cyp11b2	T	A	15: 74,856,065	Q56L	probably damaging	Het
Dip2a	A	G	10: 76,278,486		probably null	Het
Dnmbp	A	G	19: 43,849,837	V742A	probably benign	Het
Ehbp1	A	T	11: 22,232,053	D87E	probably damaging	Het
Fgl1	A	G	8: 41,199,711	V150A	probably benign	Het
Flt3	T	C	5: 147,334,863	D873G	probably damaging	Het
Gart	T	C	16: 91,630,703	D469G	possibly damaging	Het
Gm28168	T	G	1: 117,947,895	S85A	probably benign	Het
Golgb1	A	G	16: 36,915,689	D1807G	probably benign	Het
Grm8	A	G	6: 27,761,352	L291S	probably damaging	Het
Gucy2d	C	T	7: 98,443,469	P18S	possibly damaging	Het
Ifna15	C	T	4: 88,557,761	C162Y	probably damaging	Het
Iqub	C	A	6: 24,479,308	E412*	probably null	Het
Krt4	T	A	15: 101,920,642	D312V		Het
Krtap26-1	A	T	16: 88,647,415	I106N	probably damaging	Het
Krtap26-1	T	C	16: 88,647,436	Y99C	probably damaging	Het
Lipn	T	C	19: 34,084,716	I357T	probably benign	Het
Lrrc14b	A	G	13: 74,363,949	L4P	probably damaging	Het
Mrgpra9	A	T	7: 47,235,293	C209S	probably benign	Het
Myh7b	A	G	2: 155,630,381	N1291D	probably benign	Het
Myo5a	A	G	9: 75,167,046	T746A	probably damaging	Het
Myom2	A	C	8: 15,114,169	E1021D	possibly damaging	Het
Ncoa2	C	T	1: 13,177,185	R338H	probably benign	Het
Ncor2	A	G	5: 125,118,757	F91L		Het
Neb	C	G	2: 52,216,911	A4407P	probably damaging	Het
Olfr1135	T	C	2: 87,671,960	M136V	possibly damaging	Het
Olfr1272	A	G	2: 90,296,012	I283T	probably damaging	Het
Olfr347	A	T	2: 36,735,191	Y290F	probably damaging	Het
Olfr502	T	G	7: 108,523,143	Y269S	probably benign	Het
Olfr74	A	G	2: 87,974,003	F221L	probably benign	Het
Olfr819	C	T	10: 129,965,792	V297M	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451		probably benign	Het
Piwil4	C	A	9: 14,727,475	K298N	probably benign	Het
Prkcz	G	A	4: 155,344,828		probably benign	Het
Prkg2	G	A	5: 98,942,208	P691L	possibly damaging	Het
Ptprc	T	A	1: 138,113,708	K89*	probably null	Het
Rapgef3	C	T	15: 97,766,908	A25T	probably benign	Het
Rreb1	C	T	13: 37,930,516	T617I	probably damaging	Het
Rsph1	A	C	17: 31,273,376	V72G	possibly damaging	Het
Shc2	A	G	10: 79,637,702	V50A	probably benign	Het
Slc38a9	G	A	13: 112,701,487	R262H	probably benign	Het
Slco6c1	T	A	1: 97,128,159	N6Y	possibly damaging	Het
Smarca5	A	G	8: 80,705,332	F886L	probably benign	Het
Tas1r2	A	G	4: 139,653,763		probably benign	Het
Tnrc6c	T	A	11: 117,739,854		probably benign	Het
Trim30b	T	A	7: 104,357,906		probably benign	Het
Trim55	T	C	3: 19,672,962	S398P	probably benign	Het
Ttc39c	T	A	18: 12,686,946		probably benign	Het
Ubxn10	A	G	4: 138,735,867		probably null	Het
Usf3	A	G	16: 44,215,613	N152S	probably benign	Het
Vps13b	T	A	15: 35,533,299	V839E	probably damaging	Het
Zeb1	T	A	18: 5,748,680		probably benign	Het
Zfp780b	T	C	7: 27,963,468	Y554C	probably benign	Het
Zhx2	C	T	15: 57,821,280	T15I	probably 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
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
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
R9476:Dusp16	UTSW	6	134718263	missense	probably benign	0.07
R9510:Dusp16	UTSW	6	134718263	missense	probably benign	0.07
R9598:Dusp16	UTSW	6	134718222	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GAGGACCTCAATCCAATGCC -3'
(R):5'- GGCCTCTGTGAAGGAAAGTC -3'

Sequencing Primer
(F):5'- CCCCGTTCTAGTATGATACAAGGG -3'
(R):5'- CTCTGTGAAGGAAAGTCCACTCTAG -3'

Posted On

2021-07-15