Mutagenetix > Incidental Mutation

Incidental Mutation 'R2184:Mta1'

237379

Institutional Source

Beutler Lab

Gene Symbol

Mta1

Ensembl Gene

ENSMUSG00000021144

Gene Name

metastasis associated 1

Synonyms

MMRRC Submission

040186-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2184 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113061898-113100826 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 113093815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105349 (fasta)

Gene Model

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

AlphaFold

Q8K4B0

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 null
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 null
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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	C	15: 79,019,389 (GRCm39)	R184G	probably damaging	Het
2300002M23Rik	C	A	17: 35,879,115 (GRCm39)	A151E	probably benign	Het
A930011G23Rik	C	T	5: 99,380,228 (GRCm39)	R339Q	possibly damaging	Het
Abcd2	T	C	15: 91,075,642 (GRCm39)	Y57C	probably benign	Het
Adprhl1	A	G	8: 13,292,559 (GRCm39)	V244A	probably benign	Het
Agl	T	C	3: 116,574,426 (GRCm39)	N753D	probably benign	Het
Amotl1	T	A	9: 14,486,686 (GRCm39)	M440L	probably benign	Het
Angpt2	A	G	8: 18,742,132 (GRCm39)	Y475H	probably benign	Het
Angpt4	A	T	2: 151,780,874 (GRCm39)	H374L	probably damaging	Het
Ank1	A	T	8: 23,599,270 (GRCm39)	T801S	probably damaging	Het
Ap5m1	G	T	14: 49,323,752 (GRCm39)	A481S	probably damaging	Het
AY358078	G	T	14: 52,063,445 (GRCm39)	G364W	probably damaging	Het
C4b	C	A	17: 34,956,676 (GRCm39)	A641S	probably benign	Het
Capn13	T	C	17: 73,672,943 (GRCm39)	Y120C	probably damaging	Het
Cbx6	T	C	15: 79,712,762 (GRCm39)	T222A	probably benign	Het
Cckar	T	C	5: 53,860,254 (GRCm39)	T192A	probably damaging	Het
Cdc42bpb	T	C	12: 111,262,478 (GRCm39)	D30G	probably damaging	Het
Cdk18	A	G	1: 132,043,690 (GRCm39)	Y385H	probably damaging	Het
Cep170	A	T	1: 176,584,542 (GRCm39)	D612E	probably benign	Het
Dennd4b	G	T	3: 90,182,847 (GRCm39)	R888L	probably damaging	Het
Egf	A	T	3: 129,517,007 (GRCm39)	C373*	probably null	Het
Gabrb2	T	C	11: 42,312,255 (GRCm39)		probably null	Het
Gle1	G	T	2: 29,839,030 (GRCm39)	A482S	probably damaging	Het
Gm10644	T	C	8: 84,660,256 (GRCm39)	T30A	possibly damaging	Het
Gmnn	A	G	13: 24,937,706 (GRCm39)	Y95H	probably damaging	Het
Hectd3	T	A	4: 116,858,100 (GRCm39)	S643T	possibly damaging	Het
Hoga1	A	G	19: 42,049,830 (GRCm39)	Y225C	probably damaging	Het
Hook3	T	C	8: 26,609,011 (GRCm39)	E11G	probably benign	Het
Hsd17b1	C	A	11: 100,969,357 (GRCm39)	S30R	probably benign	Het
Htr3b	G	A	9: 48,858,544 (GRCm39)	P112S	probably damaging	Het
Iqch	T	A	9: 63,432,351 (GRCm39)	D348V	probably damaging	Het
Irgm2	A	T	11: 58,111,254 (GRCm39)	N327I	probably benign	Het
Itgb4	T	C	11: 115,870,450 (GRCm39)	I93T	probably damaging	Het
Lamb2	T	C	9: 108,357,752 (GRCm39)	F92L	probably damaging	Het
Lats2	T	C	14: 57,929,016 (GRCm39)	H953R	probably damaging	Het
Lrp1b	T	C	2: 40,620,714 (GRCm39)	E3588G	probably benign	Het
Marchf1	A	G	8: 66,840,075 (GRCm39)	E286G	probably benign	Het
Mc2r	G	T	18: 68,541,196 (GRCm39)	F32L	probably benign	Het
Mink1	C	T	11: 70,494,623 (GRCm39)	T268M	probably damaging	Het
Muc5b	C	A	7: 141,412,601 (GRCm39)	S1849*	probably null	Het
Myh15	A	G	16: 48,957,874 (GRCm39)	E897G	probably damaging	Het
Nobox	T	C	6: 43,281,819 (GRCm39)	Q418R	possibly damaging	Het
Obsl1	G	T	1: 75,478,861 (GRCm39)	Q626K	probably benign	Het
Or11h4	A	G	14: 50,974,059 (GRCm39)	S187P	probably damaging	Het
Or13a24	T	C	7: 140,154,315 (GRCm39)	V83A	probably benign	Het
Or1j12	A	G	2: 36,343,046 (GRCm39)	T150A	probably benign	Het
Or2w25	T	A	11: 59,503,964 (GRCm39)	M58K	probably damaging	Het
Or5w14	G	A	2: 87,541,549 (GRCm39)	R234C	probably damaging	Het
Or8k24	G	A	2: 86,216,489 (GRCm39)	T91I	probably benign	Het
Or9i1	A	G	19: 13,839,399 (GRCm39)	I81V	probably benign	Het
Pald1	C	T	10: 61,182,915 (GRCm39)	A345T	possibly damaging	Het
Pde8b	G	A	13: 95,162,723 (GRCm39)	P800S	probably damaging	Het
Pgm2l1	G	A	7: 99,917,362 (GRCm39)	C493Y	possibly damaging	Het
Pias3	A	G	3: 96,609,537 (GRCm39)	S311G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,362,692 (GRCm39)	N573D	possibly damaging	Het
Plaat3	A	G	19: 7,556,583 (GRCm39)	D128G	probably damaging	Het
Plxnc1	T	G	10: 94,780,131 (GRCm39)	S104R	probably damaging	Het
Pofut2	T	A	10: 77,103,059 (GRCm39)	F179I	probably damaging	Het
Prkcsh	T	A	9: 21,916,028 (GRCm39)	C112S	probably damaging	Het
Prss32	G	A	17: 24,078,297 (GRCm39)	A328T	probably benign	Het
Ptgir	G	T	7: 16,642,708 (GRCm39)	R103L	probably damaging	Het
Ptpn5	G	A	7: 46,738,350 (GRCm39)	S244F	probably damaging	Het
Rnpepl1	G	A	1: 92,844,545 (GRCm39)	V346I	probably benign	Het
Sh3rf1	T	A	8: 61,825,688 (GRCm39)	V561D	probably damaging	Het
Slc22a19	A	T	19: 7,687,026 (GRCm39)	Y160N	probably benign	Het
Sorbs3	A	G	14: 70,428,880 (GRCm39)		probably null	Het
Sostdc1	T	G	12: 36,367,295 (GRCm39)	I157S	probably damaging	Het
Svil	G	T	18: 5,099,534 (GRCm39)	R1777L	probably damaging	Het
Svil	A	T	18: 5,099,615 (GRCm39)	E1804V	probably damaging	Het
Tasor	T	A	14: 27,188,141 (GRCm39)	N862K	possibly damaging	Het
Thbs4	A	G	13: 92,911,302 (GRCm39)	S294P	probably benign	Het
Tle2	A	G	10: 81,426,111 (GRCm39)	Y750C	probably damaging	Het
Tmcc3	T	C	10: 94,418,168 (GRCm39)	L312P	probably damaging	Het
Tnip2	TCTCCT	TCT	5: 34,656,957 (GRCm39)		probably benign	Het
Tnpo2	T	A	8: 85,780,475 (GRCm39)	M734K	probably benign	Het
Trmt2a	A	T	16: 18,070,859 (GRCm39)	R531W	probably benign	Het
Ubn2	C	T	6: 38,461,029 (GRCm39)	R483W	probably damaging	Het
Zc3hav1	T	A	6: 38,284,343 (GRCm39)	Y924F	probably damaging	Het

Other mutations in Mta1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02227:Mta1	APN	12	113,084,528 (GRCm39)	missense	possibly damaging	0.94
IGL02250:Mta1	APN	12	113,090,418 (GRCm39)	missense	possibly damaging	0.59
IGL02391:Mta1	APN	12	113,100,203 (GRCm39)	missense	possibly damaging	0.79
IGL02670:Mta1	APN	12	113,093,741 (GRCm39)	missense	probably damaging	1.00
PIT4382001:Mta1	UTSW	12	113,096,870 (GRCm39)	missense	probably benign	0.06
R0361:Mta1	UTSW	12	113,096,961 (GRCm39)	splice site	probably null
R0496:Mta1	UTSW	12	113,094,941 (GRCm39)	nonsense	probably null
R1774:Mta1	UTSW	12	113,091,659 (GRCm39)	missense	probably damaging	1.00
R1870:Mta1	UTSW	12	113,091,694 (GRCm39)	missense	possibly damaging	0.73
R1976:Mta1	UTSW	12	113,099,926 (GRCm39)	missense	probably damaging	0.97
R2110:Mta1	UTSW	12	113,095,248 (GRCm39)	missense	probably damaging	1.00
R2111:Mta1	UTSW	12	113,095,248 (GRCm39)	missense	probably damaging	1.00
R2274:Mta1	UTSW	12	113,091,770 (GRCm39)	missense	probably damaging	1.00
R4087:Mta1	UTSW	12	113,075,802 (GRCm39)	missense	probably damaging	1.00
R4231:Mta1	UTSW	12	113,099,447 (GRCm39)	missense	possibly damaging	0.95
R4916:Mta1	UTSW	12	113,100,160 (GRCm39)	missense	probably benign	0.17
R5032:Mta1	UTSW	12	113,097,145 (GRCm39)	splice site	probably null
R5271:Mta1	UTSW	12	113,095,577 (GRCm39)	missense	probably damaging	0.99
R5344:Mta1	UTSW	12	113,095,186 (GRCm39)	splice site	probably benign
R5392:Mta1	UTSW	12	113,096,856 (GRCm39)	missense	probably benign
R5656:Mta1	UTSW	12	113,086,759 (GRCm39)	missense	probably damaging	1.00
R5903:Mta1	UTSW	12	113,100,239 (GRCm39)	missense	probably damaging	1.00
R6168:Mta1	UTSW	12	113,086,739 (GRCm39)	missense	probably damaging	0.96
R7091:Mta1	UTSW	12	113,100,022 (GRCm39)	missense	probably damaging	1.00
R7334:Mta1	UTSW	12	113,090,418 (GRCm39)	missense	possibly damaging	0.59
R7408:Mta1	UTSW	12	113,095,088 (GRCm39)	critical splice donor site	probably null
R7889:Mta1	UTSW	12	113,095,308 (GRCm39)	missense	probably benign	0.02
R8136:Mta1	UTSW	12	113,095,298 (GRCm39)	missense	probably damaging	1.00
R8176:Mta1	UTSW	12	113,084,456 (GRCm39)	missense	probably benign	0.00
R8385:Mta1	UTSW	12	113,095,085 (GRCm39)	missense	probably benign
R8398:Mta1	UTSW	12	113,095,242 (GRCm39)	missense	possibly damaging	0.83
R9132:Mta1	UTSW	12	113,100,025 (GRCm39)	missense	probably damaging	1.00
R9159:Mta1	UTSW	12	113,100,025 (GRCm39)	missense	probably damaging	1.00
R9418:Mta1	UTSW	12	113,094,987 (GRCm39)	missense	probably damaging	1.00
R9489:Mta1	UTSW	12	113,095,085 (GRCm39)	missense	probably benign
R9596:Mta1	UTSW	12	113,090,470 (GRCm39)	missense	probably damaging	0.99
R9682:Mta1	UTSW	12	113,095,384 (GRCm39)	critical splice donor site	probably null
Z1088:Mta1	UTSW	12	113,096,820 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- GATGTGATACCCAGCACTGC -3'
(R):5'- GGAAAACTTGCATGGCCCTC -3'

Sequencing Primer
(F):5'- GTGATACCCAGCACTGCCTCTG -3'
(R):5'- CAACCTAGGCCCAGGAAGTG -3'

Posted On

2014-10-02