Mutagenetix > Incidental Mutation

Incidental Mutation 'R7479:Dusp10'

579638

Institutional Source

Beutler Lab

Gene Symbol

Dusp10

Ensembl Gene

ENSMUSG00000039384

Gene Name

dual specificity phosphatase 10

Synonyms

MKP5, 2610306G15Rik, MKP-5

MMRRC Submission

045553-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.734) question?

Stock #

R7479 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

183766575-183807833 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 183769617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 194 (H194Q)

Ref Sequence

ENSEMBL: ENSMUSP00000045838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048655] [ENSMUST00000050306] [ENSMUST00000139839]

AlphaFold

Q9ESS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000048655
AA Change: H194Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045838
Gene: ENSMUSG00000039384
AA Change: H194Q

Domain	Start	End	E-Value	Type
low complexity region	33	59	N/A	INTRINSIC
low complexity region	92	111	N/A	INTRINSIC
low complexity region	124	142	N/A	INTRINSIC
RHOD	159	283	1.71e-11	SMART
DSPc	322	462	1.43e-54	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000050306

SMART Domains

Protein: ENSMUSP00000055787
Gene: ENSMUSG00000044854

Domain	Start	End	E-Value	Type
SCOP:d1howa_	12	46	7e-3	SMART
low complexity region	81	115	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139839

SMART Domains

Protein: ENSMUSP00000121433
Gene: ENSMUSG00000039384

Domain	Start	End	E-Value	Type
low complexity region	33	59	N/A	INTRINSIC
low complexity region	92	111	N/A	INTRINSIC
low complexity region	124	142	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dual specificity protein phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the MAP kinase superfamily, which is associated with cellular proliferation and differentiation. Different members of this family of dual specificity phosphatases show distinct substrate specificities for MAP kinases, different tissue distribution and subcellular localization, and different modes of expression induction by extracellular stimuli. This gene product binds to and inactivates p38 and SAPK/JNK. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele display alterations in both innate and adaptive immune responses. [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
1700003H04Rik	T	A	3: 124,372,142 (GRCm39)	M81L	probably benign	Het
Ano9	T	C	7: 140,682,348 (GRCm39)	T667A	probably damaging	Het
Anpep	T	A	7: 79,485,118 (GRCm39)	I623F	probably benign	Het
Apba2	T	C	7: 64,389,607 (GRCm39)	I501T	possibly damaging	Het
Ascc3	T	A	10: 50,525,895 (GRCm39)	Y536N	probably damaging	Het
B4galt1	T	C	4: 40,823,587 (GRCm39)	Y168C	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
C2	A	G	17: 35,082,441 (GRCm39)	C647R	probably damaging	Het
Cnot4	G	A	6: 35,001,083 (GRCm39)	T604I	probably benign	Het
Col11a1	C	T	3: 113,896,218 (GRCm39)	T506I	unknown	Het
Cr2	A	C	1: 194,840,718 (GRCm39)		probably null	Het
Ctsm	A	T	13: 61,685,569 (GRCm39)	V281D	probably damaging	Het
Cyp2c69	T	C	19: 39,870,001 (GRCm39)	I74V	probably benign	Het
Dennd4c	T	A	4: 86,717,590 (GRCm39)	V529D	probably damaging	Het
Dlgap3	C	A	4: 127,088,418 (GRCm39)	H5N	possibly damaging	Het
Eln	C	G	5: 134,736,429 (GRCm39)	G753A	unknown	Het
Emb	T	A	13: 117,385,962 (GRCm39)	N118K	possibly damaging	Het
Fam184a	C	T	10: 53,531,110 (GRCm39)	V755I	probably benign	Het
Fryl	A	G	5: 73,254,904 (GRCm39)	I846T	possibly damaging	Het
Gabbr2	T	A	4: 46,681,166 (GRCm39)	I722F	probably damaging	Het
Gabrb3	T	A	7: 57,474,171 (GRCm39)	D362E	possibly damaging	Het
Galnt2	G	A	8: 125,061,077 (GRCm39)	G357D	probably damaging	Het
Gbx2	A	T	1: 89,858,373 (GRCm39)	S35R	probably benign	Het
Glg1	A	G	8: 111,924,367 (GRCm39)	I207T	possibly damaging	Het
Gm10192	A	T	4: 97,071,272 (GRCm39)	N44K	unknown	Het
Gpd1	A	G	15: 99,617,984 (GRCm39)	D123G	probably benign	Het
Grm2	A	T	9: 106,531,050 (GRCm39)	D146E	possibly damaging	Het
Gsg1l2	A	G	11: 67,676,032 (GRCm39)	D132G	probably benign	Het
Hecw1	C	T	13: 14,515,425 (GRCm39)	G236R	probably damaging	Het
Hif3a	G	A	7: 16,776,560 (GRCm39)	T462I	possibly damaging	Het
Hspg2	C	T	4: 137,266,714 (GRCm39)	A1934V	probably benign	Het
Il7r	C	T	15: 9,513,117 (GRCm39)	A131T	probably damaging	Het
Itga6	C	T	2: 71,668,680 (GRCm39)	R540*	probably null	Het
Kcnh2	A	G	5: 24,530,490 (GRCm39)		probably null	Het
Kcnq4	C	T	4: 120,573,022 (GRCm39)	A260T	probably damaging	Het
Lrp1b	T	C	2: 40,691,517 (GRCm39)	N3434S		Het
Lrrc41	C	T	4: 115,946,238 (GRCm39)	P318S	probably damaging	Het
Map4	G	A	9: 109,897,892 (GRCm39)	G873R	possibly damaging	Het
Med24	A	G	11: 98,595,787 (GRCm39)	I968T	possibly damaging	Het
Mfap5	T	C	6: 122,503,821 (GRCm39)		probably null	Het
Mtcl1	A	G	17: 66,686,485 (GRCm39)	V807A	probably benign	Het
Mug1	T	A	6: 121,855,467 (GRCm39)	S934T	possibly damaging	Het
Nckap5l	C	A	15: 99,321,127 (GRCm39)	V1218F	probably damaging	Het
Nek1	T	A	8: 61,583,179 (GRCm39)	D1272E	probably benign	Het
Nkx2-4	T	C	2: 146,926,088 (GRCm39)	E258G	probably benign	Het
Polr1a	T	A	6: 71,913,281 (GRCm39)	V545E	probably damaging	Het
Ppp1r9b	A	G	11: 94,882,858 (GRCm39)	D162G	possibly damaging	Het
Rhot2	A	G	17: 26,059,723 (GRCm39)	L367P	probably damaging	Het
Ripk2	A	G	4: 16,155,154 (GRCm39)	F122L	probably benign	Het
Scn11a	T	C	9: 119,588,941 (GRCm39)	T1322A	probably benign	Het
Scn8a	T	A	15: 100,853,358 (GRCm39)	L115Q	probably damaging	Het
Sel1l3	G	T	5: 53,274,462 (GRCm39)	P1006Q	probably damaging	Het
Septin11	A	T	5: 93,304,804 (GRCm39)	N207I	probably damaging	Het
Sez6l2	C	T	7: 126,562,831 (GRCm39)	T669I	probably damaging	Het
Sfxn4	T	A	19: 60,847,112 (GRCm39)	D57V	possibly damaging	Het
Smarca2	T	A	19: 26,617,887 (GRCm39)	V306D	probably benign	Het
Srgap3	C	T	6: 112,712,794 (GRCm39)		probably null	Het
Tas2r134	T	C	2: 51,517,541 (GRCm39)	F7L	not run	Het
Tbcd	T	C	11: 121,383,431 (GRCm39)		probably null	Het
Tcn2	G	A	11: 3,867,703 (GRCm39)	A413V	probably damaging	Het
Tdp1	T	C	12: 99,857,654 (GRCm39)	V71A	probably benign	Het
Tjp1	T	C	7: 64,950,928 (GRCm39)	T1649A	probably damaging	Het
Tnc	T	C	4: 63,935,865 (GRCm39)	E357G	possibly damaging	Het
Tnrc6b	A	G	15: 80,773,327 (GRCm39)	T1158A	probably benign	Het
Ttn	C	A	2: 76,568,952 (GRCm39)	E27314*	probably null	Het
Vps35	G	T	8: 85,997,434 (GRCm39)	T512K	probably benign	Het
Zfp40	A	T	17: 23,396,292 (GRCm39)	S98R	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp945	A	T	17: 23,070,340 (GRCm39)	C541S	possibly damaging	Het
Zfp976	T	A	7: 42,262,603 (GRCm39)	E412D	probably benign	Het

Other mutations in Dusp10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Dusp10	APN	1	183,801,328 (GRCm39)	missense	probably benign	0.00
IGL01094:Dusp10	APN	1	183,769,697 (GRCm39)	splice site	probably null
IGL01380:Dusp10	APN	1	183,801,211 (GRCm39)	missense	possibly damaging	0.93
FR4449:Dusp10	UTSW	1	183,769,253 (GRCm39)	missense	probably damaging	1.00
FR4548:Dusp10	UTSW	1	183,769,253 (GRCm39)	missense	probably damaging	1.00
FR4737:Dusp10	UTSW	1	183,769,253 (GRCm39)	missense	probably damaging	1.00
FR4976:Dusp10	UTSW	1	183,769,253 (GRCm39)	missense	probably damaging	1.00
LCD18:Dusp10	UTSW	1	183,769,253 (GRCm39)	missense	probably damaging	1.00
R0369:Dusp10	UTSW	1	183,801,253 (GRCm39)	missense	probably damaging	1.00
R0433:Dusp10	UTSW	1	183,801,393 (GRCm39)	missense	probably damaging	1.00
R0464:Dusp10	UTSW	1	183,801,273 (GRCm39)	missense	probably benign	0.01
R1112:Dusp10	UTSW	1	183,769,097 (GRCm39)	missense	probably damaging	0.98
R1474:Dusp10	UTSW	1	183,769,645 (GRCm39)	splice site	probably null
R1667:Dusp10	UTSW	1	183,769,055 (GRCm39)	missense	probably damaging	1.00
R1719:Dusp10	UTSW	1	183,769,422 (GRCm39)	missense	probably benign	0.22
R1899:Dusp10	UTSW	1	183,801,377 (GRCm39)	missense	possibly damaging	0.64
R5238:Dusp10	UTSW	1	183,769,210 (GRCm39)	missense	possibly damaging	0.94
R5277:Dusp10	UTSW	1	183,769,204 (GRCm39)	missense	possibly damaging	0.94
R5742:Dusp10	UTSW	1	183,769,853 (GRCm39)	splice site	probably null
R5948:Dusp10	UTSW	1	183,801,073 (GRCm39)	missense	probably benign
R6890:Dusp10	UTSW	1	183,801,393 (GRCm39)	missense	probably damaging	1.00
R6969:Dusp10	UTSW	1	183,801,085 (GRCm39)	missense	probably damaging	1.00
R7007:Dusp10	UTSW	1	183,769,414 (GRCm39)	missense	probably benign	0.22
R7033:Dusp10	UTSW	1	183,769,802 (GRCm39)	missense	possibly damaging	0.94
R7436:Dusp10	UTSW	1	183,801,418 (GRCm39)	missense	probably damaging	1.00
R7447:Dusp10	UTSW	1	183,801,153 (GRCm39)	missense	probably benign
R7572:Dusp10	UTSW	1	183,806,506 (GRCm39)	missense	probably damaging	1.00
R8191:Dusp10	UTSW	1	183,769,749 (GRCm39)	missense	possibly damaging	0.89
R8201:Dusp10	UTSW	1	183,769,202 (GRCm39)	missense	possibly damaging	0.51
R9429:Dusp10	UTSW	1	183,801,091 (GRCm39)	missense	probably benign	0.01
R9466:Dusp10	UTSW	1	183,769,234 (GRCm39)	missense	probably damaging	1.00
R9593:Dusp10	UTSW	1	183,806,643 (GRCm39)	missense	probably damaging	0.99
Z1177:Dusp10	UTSW	1	183,801,189 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTCTGTGTTAAGTCCATCGGG -3'
(R):5'- CTCGAGGACTATGTGAAGTGG -3'

Sequencing Primer
(F):5'- TGGGCAGCCCTGTGTCAG -3'
(R):5'- GCTGGGATGGTGTCACAC -3'

Posted On

2019-10-07