Mutagenetix > Incidental Mutation

Incidental Mutation 'R7161:Dusp7'

557587

Institutional Source

Beutler Lab

Gene Symbol

Dusp7

Ensembl Gene

ENSMUSG00000053716

Gene Name

dual specificity phosphatase 7

Synonyms

PYST2, MKP-X

MMRRC Submission

045260-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R7161 (G1)

Quality Score

104.008

Status

Validated

Chromosome

Chromosomal Location

106245831-106252923 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106246114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 40 (S40T)

Ref Sequence

ENSEMBL: ENSMUSP00000126984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172306]

AlphaFold

Q91Z46

Predicted Effect

unknown
Transcript: ENSMUST00000172306
AA Change: S40T

SMART Domains

Protein: ENSMUSP00000126984
Gene: ENSMUSG00000053716
AA Change: S40T

Domain	Start	End	E-Value	Type
low complexity region	18	54	N/A	INTRINSIC
RHOD	58	187	4.5e-11	SMART
low complexity region	195	213	N/A	INTRINSIC
DSPc	247	387	8.53e-71	SMART
Blast:DSPc	393	416	8e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173748

SMART Domains

Protein: ENSMUSP00000133511
Gene: ENSMUSG00000053716

Domain	Start	End	E-Value	Type
low complexity region	6	24	N/A	INTRINSIC
DSPc	58	214	4.41e-64	SMART

Meta Mutation Damage Score

0.0866

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. DUSP7 belongs to a class of DUSPs, designated MKPs, that dephosphorylate MAPK (mitogen-activated protein kinase) proteins ERK (see MIM 601795), JNK (see MIM 601158), and p38 (see MIM 600289) with specificity distinct from that of individual MKP proteins. MKPs contain a highly conserved C-terminal catalytic domain and an N-terminal Cdc25 (see MIM 116947)-like (CH2) domain. MAPK activation cascades mediate various physiologic processes, including cellular proliferation, apoptosis, differentiation, and stress responses (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 109,964,968 (GRCm39)	Q443L	probably benign	Het
Acad12	A	T	5: 121,745,436 (GRCm39)	M285K	probably damaging	Het
Afdn	T	A	17: 14,109,208 (GRCm39)	M1592K	possibly damaging	Het
Bpifb9b	A	T	2: 154,155,535 (GRCm39)	T345S	possibly damaging	Het
Bub1b	A	G	2: 118,456,534 (GRCm39)	E526G	probably damaging	Het
Car13	A	G	3: 14,710,268 (GRCm39)	D70G	probably benign	Het
Castor2	C	A	5: 134,164,029 (GRCm39)	T75N	probably damaging	Het
Ccdc127	A	T	13: 74,500,996 (GRCm39)	L4F	probably damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ccr10	A	G	11: 101,065,104 (GRCm39)	I142T	probably benign	Het
Cep126	C	T	9: 8,087,400 (GRCm39)	V1005M	probably benign	Het
Chil6	A	G	3: 106,301,728 (GRCm39)	I124T	probably benign	Het
Coq8a	A	G	1: 179,997,906 (GRCm39)		probably null	Het
Ctf2	T	A	7: 127,318,476 (GRCm39)	K174N	probably damaging	Het
Dapk1	T	C	13: 60,844,209 (GRCm39)	V76A	possibly damaging	Het
Disp1	A	G	1: 182,869,189 (GRCm39)	M1077T	possibly damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dnah9	T	A	11: 65,746,198 (GRCm39)	K3972*	probably null	Het
Dnai4	G	A	4: 102,953,813 (GRCm39)	P129S	probably benign	Het
Emg1	T	C	6: 124,682,712 (GRCm39)	T88A	probably benign	Het
Fbxo5	A	G	10: 5,752,043 (GRCm39)	V190A	possibly damaging	Het
Fbxw20	T	G	9: 109,055,048 (GRCm39)	D167A	probably damaging	Het
Fes	A	T	7: 80,030,609 (GRCm39)	V562E	probably damaging	Het
Foxj1	C	G	11: 116,223,234 (GRCm39)	G190R	probably damaging	Het
Gdf15	T	G	8: 71,083,992 (GRCm39)	S91R	possibly damaging	Het
Gm4846	C	A	1: 166,314,579 (GRCm39)	V355F	probably damaging	Het
Herc4	T	A	10: 63,144,194 (GRCm39)	Y776N	probably benign	Het
Hspg2	G	A	4: 137,242,030 (GRCm39)	R588H	probably damaging	Het
Igkv6-25	T	A	6: 70,192,762 (GRCm39)	Y56*	probably null	Het
Itpr1	C	T	6: 108,363,601 (GRCm39)	A741V	probably damaging	Het
Kbtbd8	T	A	6: 95,103,677 (GRCm39)	I519K	probably benign	Het
Kcnh5	T	A	12: 74,944,483 (GRCm39)	Q922L	probably benign	Het
Kiss1r	T	C	10: 79,755,323 (GRCm39)	Y103H	probably damaging	Het
Knl1	A	G	2: 118,901,266 (GRCm39)	E989G	possibly damaging	Het
Lamc1	A	T	1: 153,102,200 (GRCm39)	L1466Q	probably damaging	Het
Lap3	C	T	5: 45,655,809 (GRCm39)	P138L	probably benign	Het
Lhx1	G	A	11: 84,410,698 (GRCm39)	P300S	probably damaging	Het
Mppe1	G	A	18: 67,362,842 (GRCm39)	A131V	probably benign	Het
Neb	A	T	2: 52,161,604 (GRCm39)	Y2063N	probably damaging	Het
Nfe2l1	A	G	11: 96,708,546 (GRCm39)	F740L	probably benign	Het
Nop10	A	G	2: 112,092,391 (GRCm39)	N8S	probably benign	Het
Opalin	T	A	19: 41,058,374 (GRCm39)	T20S	possibly damaging	Het
Or8h7	A	C	2: 86,720,993 (GRCm39)	H175Q	probably benign	Het
Pask	C	T	1: 93,238,627 (GRCm39)	S1286N	probably benign	Het
Pcdhgc4	A	T	18: 37,948,716 (GRCm39)	E44V	probably damaging	Het
Pde1a	A	G	2: 79,695,558 (GRCm39)	M463T	probably benign	Het
Pde6a	A	T	18: 61,414,596 (GRCm39)	M714L	probably benign	Het
Pik3c2b	A	G	1: 133,033,850 (GRCm39)	E1618G	probably damaging	Het
Pou2f3	T	C	9: 43,050,658 (GRCm39)	N234S	probably damaging	Het
Ptprm	T	A	17: 67,116,622 (GRCm39)	T886S	probably benign	Het
Rab11fip3	C	A	17: 26,288,064 (GRCm39)	D30Y	probably benign	Het
Rassf10	A	T	7: 112,553,707 (GRCm39)	I103F	probably damaging	Het
Rfc4	A	G	16: 22,934,183 (GRCm39)	I206T	probably benign	Het
Rhcg	A	G	7: 79,267,189 (GRCm39)	F29S	probably damaging	Het
Sec11c	A	G	18: 65,945,803 (GRCm39)	I89V	probably benign	Het
Serac1	T	C	17: 6,115,351 (GRCm39)	D204G	probably damaging	Het
Serpinb3c	T	C	1: 107,200,892 (GRCm39)	N175S	probably null	Het
Slc25a19	C	T	11: 115,507,373 (GRCm39)	E250K	possibly damaging	Het
Slc9a8	A	T	2: 167,307,303 (GRCm39)	Y329F	possibly damaging	Het
Smagp	T	C	15: 100,534,126 (GRCm39)		probably benign	Het
Spats1	T	A	17: 45,760,095 (GRCm39)	Q268H	probably benign	Het
Spef2	T	C	15: 9,717,689 (GRCm39)	T219A	probably benign	Het
Spink13	A	G	18: 62,748,026 (GRCm39)	M11T	probably benign	Het
Susd1	T	C	4: 59,329,581 (GRCm39)	D669G	possibly damaging	Het
Svep1	A	G	4: 58,128,859 (GRCm39)	Y613H	possibly damaging	Het
Tcp10b	T	C	17: 13,300,633 (GRCm39)	*439Q	probably null	Het
Tmed2	T	A	5: 124,684,983 (GRCm39)	M133K	possibly damaging	Het
Trpv5	A	T	6: 41,637,470 (GRCm39)	Y370*	probably null	Het
Ttn	A	G	2: 76,642,588 (GRCm39)	S13316P	probably damaging	Het
Uap1l1	A	T	2: 25,253,292 (GRCm39)	M381K	probably damaging	Het
Wdr26	A	G	1: 181,030,695 (GRCm39)	Y200H	probably damaging	Het
Zfhx4	A	T	3: 5,309,143 (GRCm39)	M790L	possibly damaging	Het
Zscan25	T	C	5: 145,223,251 (GRCm39)	L173P	probably benign	Het

Other mutations in Dusp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03181:Dusp7	APN	9	106,251,009 (GRCm39)	missense	probably damaging	1.00
alessi	UTSW	9	106,250,940 (GRCm39)	missense	probably damaging	1.00
R1118:Dusp7	UTSW	9	106,250,849 (GRCm39)	missense	possibly damaging	0.91
R1952:Dusp7	UTSW	9	106,248,028 (GRCm39)	missense	probably benign	0.05
R2049:Dusp7	UTSW	9	106,251,096 (GRCm39)	missense	probably damaging	1.00
R2408:Dusp7	UTSW	9	106,246,361 (GRCm39)	missense	probably benign	0.30
R3852:Dusp7	UTSW	9	106,251,092 (GRCm39)	missense	probably benign	0.00
R4632:Dusp7	UTSW	9	106,247,965 (GRCm39)	missense	possibly damaging	0.64
R5022:Dusp7	UTSW	9	106,250,940 (GRCm39)	missense	probably damaging	1.00
R6273:Dusp7	UTSW	9	106,251,095 (GRCm39)	missense	possibly damaging	0.57
R6525:Dusp7	UTSW	9	106,246,483 (GRCm39)	missense	possibly damaging	0.91
R7575:Dusp7	UTSW	9	106,250,876 (GRCm39)	missense	probably damaging	1.00
R7818:Dusp7	UTSW	9	106,246,329 (GRCm39)	missense	probably benign	0.28
R7856:Dusp7	UTSW	9	106,246,067 (GRCm39)	missense	unknown
R8811:Dusp7	UTSW	9	106,248,241 (GRCm39)	missense	probably benign	0.04
R9126:Dusp7	UTSW	9	106,250,966 (GRCm39)	missense
R9219:Dusp7	UTSW	9	106,248,212 (GRCm39)	missense	probably damaging	1.00
R9511:Dusp7	UTSW	9	106,248,125 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAAGGCACAGATGTAGGC -3'
(R):5'- TTGATGGCCGTCTCAATGTG -3'

Sequencing Primer
(F):5'- CCGGAGCCGCGGTTTAATTG -3'
(R):5'- GTCTCAATGTGCGACGATTC -3'

Posted On

2019-06-26