Mutagenetix > Incidental Mutations

Incidental Mutation 'R5032:Mta1'

391778

Institutional Source

Beutler Lab

Gene Symbol

Mta1

Ensembl Gene

ENSMUSG00000021144

Gene Name

metastasis associated 1

Synonyms

MMRRC Submission

042623-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5032 (G1)

Quality Score

158

Status

Validated

Chromosome

Chromosomal Location

113098278-113137206 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 113133525 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105348 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009099] [ENSMUST00000069690] [ENSMUST00000109723] [ENSMUST00000109726] [ENSMUST00000109727]

Predicted Effect

probably null
Transcript: ENSMUST00000009099

SMART Domains

Protein: ENSMUSP00000009099
Gene: ENSMUSG00000021144

Domain	Start	End	E-Value	Type
BAH	4	164	1.85e-30	SMART
ELM2	167	221	2.36e-13	SMART
SANT	284	333	2.62e-8	SMART
ZnF_GATA	387	441	2.6e-16	SMART
low complexity region	545	565	N/A	INTRINSIC
low complexity region	695	705	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000069690

SMART Domains

Protein: ENSMUSP00000064338
Gene: ENSMUSG00000021144

Domain	Start	End	E-Value	Type
BAH	4	147	2.7e-32	SMART
ELM2	150	204	2.36e-13	SMART
SANT	267	316	2.62e-8	SMART
ZnF_GATA	370	424	2.6e-16	SMART
low complexity region	528	548	N/A	INTRINSIC
low complexity region	678	688	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109723

SMART Domains

Protein: ENSMUSP00000105345
Gene: ENSMUSG00000021144

Domain	Start	End	E-Value	Type
BAH	4	164	1.85e-30	SMART
ELM2	167	221	2.36e-13	SMART
SANT	284	333	2.62e-8	SMART
ZnF_GATA	387	441	2.6e-16	SMART
low complexity region	545	565	N/A	INTRINSIC
low complexity region	683	693	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000109726

SMART Domains

Protein: ENSMUSP00000105348
Gene: ENSMUSG00000021144

Domain	Start	End	E-Value	Type
BAH	4	147	2.7e-32	SMART
ELM2	150	204	2.36e-13	SMART
SANT	267	316	2.62e-8	SMART
ZnF_GATA	370	424	2.6e-16	SMART
low complexity region	528	548	N/A	INTRINSIC
low complexity region	678	688	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109727

SMART Domains

Protein: ENSMUSP00000105349
Gene: ENSMUSG00000021144

Domain	Start	End	E-Value	Type
BAH	4	164	1.85e-30	SMART
ELM2	167	221	2.36e-13	SMART
SANT	284	333	2.62e-8	SMART
ZnF_GATA	387	441	2.6e-16	SMART
low complexity region	545	565	N/A	INTRINSIC
low complexity region	683	693	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130926

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134488

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156030

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.0%

Validation Efficiency

97% (77/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that was identified in a screen for genes expressed in metastatic cells, specifically, mammary adenocarcinoma cell lines. Expression of this gene has been correlated with the metastatic potential of at least two types of carcinomas although it is also expressed in many normal tissues. The role it plays in metastasis is unclear. It was initially thought to be the 70kD component of a nucleosome remodeling deacetylase complex, NuRD, but it is more likely that this component is a different but very similar protein. These two proteins are so closely related, though, that they share the same types of domains. These domains include two DNA binding domains, a dimerization domain, and a domain commonly found in proteins that methylate DNA. The profile and activity of this gene product suggest that it is involved in regulating transcription and that this may be accomplished by chromatin remodeling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased cellular sensitivity to ionizing radiation and increased retinal cell proliferation at E14.5. [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
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Actl9	A	G	17: 33,434,088	N374S	probably benign	Het
Ahcyl2	T	A	6: 29,768,556		probably benign	Het
Arfgef2	T	C	2: 166,878,544	M1501T	probably benign	Het
Asb17	A	T	3: 153,844,538	D69V	probably damaging	Het
Atp13a5	T	C	16: 29,263,450	Y877C	probably damaging	Het
Atrip	T	C	9: 109,065,203	Q64R	probably benign	Het
Auts2	A	G	5: 131,476,891		probably benign	Het
Cacna2d1	G	T	5: 16,359,070	R893L	probably damaging	Het
Ccdc138	C	T	10: 58,573,636	R596C	probably damaging	Het
Cd163	A	G	6: 124,311,669	Y353C	probably damaging	Het
Cdon	T	C	9: 35,489,034	Y1015H	probably damaging	Het
Chsy3	T	C	18: 59,179,471	Y339H	probably damaging	Het
Cspp1	T	C	1: 10,066,519	W190R	probably benign	Het
Ddx1	A	T	12: 13,223,992	I570N	probably damaging	Het
Duox1	G	A	2: 122,337,317	R1027H	probably benign	Het
Dync1h1	C	T	12: 110,626,892	Q1198*	probably null	Het
Ecel1	G	A	1: 87,154,253	S246L	probably damaging	Het
Fam228b	T	G	12: 4,763,042	R109S	probably damaging	Het
Fut9	T	A	4: 25,799,245		probably benign	Het
Gm5346	T	C	8: 43,626,471	N239D	probably damaging	Het
Gm5592	A	G	7: 41,289,735	R814G	probably damaging	Het
Gmps	A	G	3: 63,990,325	K233E	probably benign	Het
Gramd1c	A	G	16: 43,990,663	Y438H	probably damaging	Het
Gsdmc	A	T	15: 63,802,033	D134E	possibly damaging	Het
Gxylt2	A	G	6: 100,783,181	I226V	probably benign	Het
Hc	T	C	2: 35,013,532	I1037V	probably benign	Het
Hspa4	T	G	11: 53,289,123	R69S	possibly damaging	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Kifc3	A	G	8: 95,102,726	S508P	probably damaging	Het
Krt7	G	A	15: 101,412,547	R25H	probably benign	Het
Lhfp	T	A	3: 53,043,433	S43T	possibly damaging	Het
Lrrc7	T	A	3: 158,181,580	K394N	possibly damaging	Het
Lypd4	A	T	7: 24,866,815	L28Q	probably damaging	Het
Mdc1	A	G	17: 35,850,589	E798G	probably benign	Het
Mtg2	A	T	2: 180,083,390	Q132L	possibly damaging	Het
Myh1	G	T	11: 67,206,048	E382*	probably null	Het
Myo3a	T	C	2: 22,282,602	L175P	probably damaging	Het
Nckap5	A	T	1: 125,977,049	F144L	possibly damaging	Het
Nfrkb	T	A	9: 31,389,055		probably null	Het
Nmt2	C	T	2: 3,284,392	P5L	probably benign	Het
Nsmf	T	C	2: 25,055,061		probably null	Het
Olfr635	A	T	7: 103,979,374	M61L	probably damaging	Het
Olfr76	T	A	19: 12,120,056	I219F	probably benign	Het
Oprl1	C	T	2: 181,719,002	R257C	probably damaging	Het
Pcdhgc3	T	A	18: 37,807,585	N346K	probably damaging	Het
Pcnt	G	A	10: 76,355,077	P2791S	probably benign	Het
Pdia3	A	G	2: 121,414,139	N11S	probably benign	Het
Pik3c2g	A	T	6: 139,896,202	T778S	probably benign	Het
Pik3ip1	T	A	11: 3,333,520	I75N	probably damaging	Het
Pla2g4d	A	T	2: 120,281,695	Y118*	probably null	Het
Ppargc1b	A	G	18: 61,307,265	S845P	probably damaging	Het
Prdm2	A	T	4: 143,179,367	L50*	probably null	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Pxdn	G	A	12: 30,003,141	V926I	probably benign	Het
Rab11fip2	A	T	19: 59,937,367	N139K	probably damaging	Het
Rcn2	T	A	9: 56,053,016	M189K	probably damaging	Het
Rev1	A	T	1: 38,074,489		probably benign	Het
Rhbg	C	A	3: 88,245,134	G368C	probably damaging	Het
Rnf214	A	G	9: 45,899,744		probably null	Het
Sf3a3	T	C	4: 124,725,166	S307P	probably benign	Het
Slc6a18	T	A	13: 73,666,323	Y494F	probably damaging	Het
Son	T	C	16: 91,657,664	S1100P	probably damaging	Het
Spag16	T	G	1: 69,853,352	N97K	probably benign	Het
Tmem192	T	C	8: 64,959,511	V114A	possibly damaging	Het
Urb1	G	T	16: 90,756,171	P1901T	probably benign	Het
Vwa5b2	A	G	16: 20,600,709	T601A	probably damaging	Het
Wdtc1	G	T	4: 133,308,851	T126K	possibly damaging	Het
Xirp2	T	C	2: 67,525,670	Y3592H	possibly damaging	Het
Xylt2	A	T	11: 94,670,016	V232E	probably damaging	Het

Other mutations in Mta1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02227:Mta1	APN	12	113120908	missense	possibly damaging	0.94
IGL02250:Mta1	APN	12	113126798	missense	possibly damaging	0.59
IGL02391:Mta1	APN	12	113136583	missense	possibly damaging	0.79
IGL02670:Mta1	APN	12	113130121	missense	probably damaging	1.00
PIT4382001:Mta1	UTSW	12	113133250	missense	probably benign	0.06
R0361:Mta1	UTSW	12	113133341	splice site	probably null
R0496:Mta1	UTSW	12	113131321	nonsense	probably null
R1774:Mta1	UTSW	12	113128039	missense	probably damaging	1.00
R1870:Mta1	UTSW	12	113128074	missense	possibly damaging	0.73
R1976:Mta1	UTSW	12	113136306	missense	probably damaging	0.97
R2110:Mta1	UTSW	12	113131628	missense	probably damaging	1.00
R2111:Mta1	UTSW	12	113131628	missense	probably damaging	1.00
R2184:Mta1	UTSW	12	113130195	critical splice donor site	probably null
R2274:Mta1	UTSW	12	113128150	missense	probably damaging	1.00
R4087:Mta1	UTSW	12	113112182	missense	probably damaging	1.00
R4231:Mta1	UTSW	12	113135827	missense	possibly damaging	0.95
R4916:Mta1	UTSW	12	113136540	missense	probably benign	0.17
R5271:Mta1	UTSW	12	113131957	missense	probably damaging	0.99
R5344:Mta1	UTSW	12	113131566	splice site	probably benign
R5392:Mta1	UTSW	12	113133236	missense	probably benign
R5656:Mta1	UTSW	12	113123139	missense	probably damaging	1.00
R5903:Mta1	UTSW	12	113136619	missense	probably damaging	1.00
R6168:Mta1	UTSW	12	113123119	missense	probably damaging	0.96
R7091:Mta1	UTSW	12	113136402	missense	probably damaging	1.00
R7334:Mta1	UTSW	12	113126798	missense	possibly damaging	0.59
R7408:Mta1	UTSW	12	113131468	critical splice donor site	probably null
R7889:Mta1	UTSW	12	113131688	missense	probably benign	0.02
R8136:Mta1	UTSW	12	113131678	missense	probably damaging	1.00
R8176:Mta1	UTSW	12	113120836	missense	probably benign	0.00
R8385:Mta1	UTSW	12	113131465	missense	probably benign
R8398:Mta1	UTSW	12	113131622	missense	possibly damaging	0.83
Z1088:Mta1	UTSW	12	113133200	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- TCTGAGCTTAAGGACTGGCC -3'
(R):5'- TCTACCAAGAGACAAGTCTACAGGG -3'

Sequencing Primer
(F):5'- CTTAAGGACTGGCCCTGTGAAG -3'
(R):5'- CAAGTCTACAGGGGCACG -3'

Posted On

2016-06-06