Mutagenetix > Incidental Mutation

Incidental Mutation 'R9364:Dusp16'

708836

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 #

R9364 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134692431-134769588 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 134695982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 283 (P283L)

Ref Sequence

ENSEMBL: ENSMUSP00000098419 (fasta)

Gene Model

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

AlphaFold

Q6PCP3

Predicted Effect

probably damaging
Transcript: ENSMUST00000100857
AA Change: P283L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098419
Gene: ENSMUSG00000030203
AA Change: P283L

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Ankrd17	C	T	5: 90,416,508 (GRCm39)	R1108Q	probably damaging	Het
Ccdc136	C	T	6: 29,405,960 (GRCm39)	A102V	probably damaging	Het
Ccn4	G	A	15: 66,784,900 (GRCm39)	R191K	probably benign	Het
Ccnyl1	A	G	1: 64,753,750 (GRCm39)	Y187C	probably damaging	Het
Copa	G	A	1: 171,944,831 (GRCm39)	V882I	probably benign	Het
Cyp17a1	C	T	19: 46,657,165 (GRCm39)	R361H	probably damaging	Het
Ddx49	T	C	8: 70,746,226 (GRCm39)	T459A	probably benign	Het
Depdc5	A	G	5: 33,122,076 (GRCm39)	N1133S	probably benign	Het
Dnajc18	T	C	18: 35,808,260 (GRCm39)	D329G	probably damaging	Het
Efcab12	A	G	6: 115,814,975 (GRCm39)	V40A	probably benign	Het
Emb	G	T	13: 117,357,096 (GRCm39)		probably benign	Het
Fam120b	G	A	17: 15,626,020 (GRCm39)	A458T	possibly damaging	Het
Fgd4	G	A	16: 16,308,353 (GRCm39)	T9I	probably benign	Het
Hivep1	G	A	13: 42,308,251 (GRCm39)	D164N	possibly damaging	Het
Klf13	T	A	7: 63,574,609 (GRCm39)		probably benign	Het
Lrrc47	T	C	4: 154,100,398 (GRCm39)	S325P	possibly damaging	Het
Mast3	C	T	8: 71,238,826 (GRCm39)	V493M	probably damaging	Het
Med22	T	C	2: 26,795,821 (GRCm39)	T200A	probably benign	Het
Mettl15	T	A	2: 108,961,960 (GRCm39)	Q216H	probably benign	Het
Mmel1	A	G	4: 154,976,967 (GRCm39)	D561G	probably null	Het
Ms4a4a	G	A	19: 11,367,708 (GRCm39)	M191I	probably benign	Het
Mtcl3	G	A	10: 29,072,775 (GRCm39)	R689Q	probably damaging	Het
Myh11	T	A	16: 14,018,580 (GRCm39)	N1922I		Het
Myo7b	T	C	18: 32,133,413 (GRCm39)	I371V	probably benign	Het
Myo9b	T	C	8: 71,808,483 (GRCm39)	S1697P	probably damaging	Het
Neurod4	T	C	10: 130,106,840 (GRCm39)	T145A	probably benign	Het
Nfx1	T	C	4: 41,023,756 (GRCm39)	V1055A	probably benign	Het
Ntng1	C	T	3: 110,042,680 (GRCm39)	A49T	probably damaging	Het
Oc90	G	A	15: 65,761,437 (GRCm39)	P194S	probably benign	Het
Opcml	A	C	9: 28,814,624 (GRCm39)	N292T	probably damaging	Het
Oplah	A	G	15: 76,193,787 (GRCm39)	S57P	probably benign	Het
Or1x6	T	A	11: 50,939,223 (GRCm39)	Y96*	probably null	Het
Or2a12	T	A	6: 42,904,534 (GRCm39)	I123N	probably damaging	Het
Or2aj4	T	A	16: 19,384,722 (GRCm39)	I304F	possibly damaging	Het
Or8k3b	A	T	2: 86,520,575 (GRCm39)	V248D	possibly damaging	Het
Pdzd8	A	T	19: 59,333,574 (GRCm39)	L149Q	probably damaging	Het
Pid1	A	G	1: 84,137,032 (GRCm39)	V33A	probably benign	Het
Prpsap1	A	G	11: 116,385,015 (GRCm39)		probably benign	Het
R3hdml	T	C	2: 163,334,535 (GRCm39)	W42R	probably benign	Het
Rnase6	A	T	14: 51,367,862 (GRCm39)	N85Y	possibly damaging	Het
Scn3a	T	A	2: 65,291,596 (GRCm39)	M1717L	possibly damaging	Het
Setbp1	C	T	18: 78,826,599 (GRCm39)	S1338N	probably benign	Het
Sh2b2	T	C	5: 136,253,006 (GRCm39)	T389A	probably benign	Het
Sh2d4a	G	A	8: 68,747,018 (GRCm39)	G82D	probably damaging	Het
Skint9	A	T	4: 112,248,915 (GRCm39)	M171K	probably benign	Het
Slc5a11	C	T	7: 122,868,324 (GRCm39)	R505W	probably damaging	Het
Slx4	C	A	16: 3,805,820 (GRCm39)	M577I	probably benign	Het
Tarbp1	C	T	8: 127,177,462 (GRCm39)	V737I	probably benign	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem100	A	T	11: 89,926,533 (GRCm39)	E120V	probably damaging	Het
Trim72	C	T	7: 127,609,173 (GRCm39)	T325M	possibly damaging	Het
Trpc2	G	A	7: 101,739,819 (GRCm39)	G581D	possibly damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ubn1	T	C	16: 4,888,492 (GRCm39)	S154P	unknown	Het
Uchl1	T	A	5: 66,833,649 (GRCm39)	M6K	probably damaging	Het
Vmn1r193	A	T	13: 22,403,989 (GRCm39)	M1K	probably null	Het
Zfp429	T	A	13: 67,538,531 (GRCm39)	K304N	probably benign	Het
Zfp618	A	G	4: 63,036,824 (GRCm39)	N375D	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (GRCm39)		probably benign	Het
Zfp78	A	T	7: 6,382,354 (GRCm39)	D468V	probably benign	Het
Zfp809	A	C	9: 22,150,394 (GRCm39)	Y297S	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
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
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'- TGTAAGCTGGGCACACTTG -3'
(R):5'- CAGTGCTGGAATTGTACGTG -3'

Sequencing Primer
(F):5'- AGGATGCACAAGCCTTTGC -3'
(R):5'- GAATTGTACGTGAGTTCTCTTCCAGC -3'

Posted On

2022-04-18