Mutagenetix > Incidental Mutation

Incidental Mutation 'R7408:Mta1'

574866

Institutional Source

Beutler Lab

Gene Symbol

Mta1

Ensembl Gene

ENSMUSG00000021144

Gene Name

metastasis associated 1

Synonyms

MMRRC Submission

045489-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7408 (G1)

Quality Score

225.009

Status

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 113095088 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

Coding Region Coverage

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

Validation Efficiency

100% (71/71)

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
Agfg1	T	C	1: 82,860,030 (GRCm39)	F299S	probably damaging	Het
Arhgap32	A	T	9: 32,157,220 (GRCm39)	E72D	probably benign	Het
Arid1a	G	T	4: 133,408,391 (GRCm39)	Q1654K	unknown	Het
Atp6v1f	A	C	6: 29,470,194 (GRCm39)	H96P	probably damaging	Het
Cast	A	G	13: 74,887,960 (GRCm39)	V161A	probably damaging	Het
Ccdc186	A	T	19: 56,796,610 (GRCm39)	C320S	probably damaging	Het
Cgn	T	A	3: 94,670,362 (GRCm39)	K1031*	probably null	Het
Cnot10	T	C	9: 114,460,894 (GRCm39)	N92S	probably benign	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Cstf2t	T	C	19: 31,060,593 (GRCm39)	V43A	possibly damaging	Het
D930020B18Rik	T	C	10: 121,525,739 (GRCm39)	L547P	probably damaging	Het
Dennd1a	G	A	2: 37,742,184 (GRCm39)		probably null	Het
Dtnb	T	A	12: 3,694,272 (GRCm39)		probably null	Het
Entpd1	A	G	19: 40,727,309 (GRCm39)	N486D	possibly damaging	Het
Fes	G	A	7: 80,028,410 (GRCm39)	R736C	probably damaging	Het
Galr1	T	G	18: 82,411,990 (GRCm39)	Y292S	probably damaging	Het
Gda	T	A	19: 21,405,988 (GRCm39)	D80V	probably damaging	Het
Ghr	A	G	15: 3,377,054 (GRCm39)	C56R	probably benign	Het
Golgb1	A	G	16: 36,718,909 (GRCm39)	T313A	probably damaging	Het
Gpaa1	A	T	15: 76,217,193 (GRCm39)	D236V	probably damaging	Het
Gsdmc	A	G	15: 63,676,315 (GRCm39)	S43P	probably benign	Het
Gsdmd	A	G	15: 75,738,202 (GRCm39)	E295G	probably damaging	Het
Htatip2	A	G	7: 49,409,534 (GRCm39)	K96R	probably benign	Het
Insm1	T	A	2: 146,064,711 (GRCm39)	F176I	probably benign	Het
Itih1	T	C	14: 30,665,117 (GRCm39)	E36G	probably benign	Het
Jak1	A	G	4: 101,032,379 (GRCm39)	V409A	probably damaging	Het
Knl1	A	G	2: 118,901,073 (GRCm39)	I925V	possibly damaging	Het
Lcmt2	A	G	2: 120,969,185 (GRCm39)	S413P	probably benign	Het
Lmo7	T	C	14: 102,118,389 (GRCm39)	S205P	probably damaging	Het
Lrch3	C	A	16: 32,807,113 (GRCm39)	S462*	probably null	Het
Lrrtm2	T	C	18: 35,346,688 (GRCm39)	I205V	possibly damaging	Het
Mark3	T	G	12: 111,600,223 (GRCm39)	N479K	probably damaging	Het
Mrpl19	C	T	6: 81,942,793 (GRCm39)	G39D	possibly damaging	Het
Msh4	A	G	3: 153,582,382 (GRCm39)	Y497H	probably benign	Het
Msl2	T	A	9: 100,979,316 (GRCm39)	D563E	probably benign	Het
Nalcn	T	A	14: 123,529,272 (GRCm39)	Q1401L	probably benign	Het
Ncapg	T	C	5: 45,853,135 (GRCm39)	L867P	probably benign	Het
Nkapl	T	C	13: 21,652,013 (GRCm39)	D200G	unknown	Het
Nos1	A	C	5: 118,005,583 (GRCm39)	E101A	probably damaging	Het
Npat	T	C	9: 53,481,216 (GRCm39)	S1008P	probably damaging	Het
Ntng1	A	G	3: 109,760,398 (GRCm39)	I358T	probably benign	Het
Or11h6	A	G	14: 50,879,852 (GRCm39)	E32G	probably benign	Het
Or13p4	C	T	4: 118,546,859 (GRCm39)	M263I	probably damaging	Het
Or2d2b	A	G	7: 106,705,274 (GRCm39)	S265P	probably benign	Het
Or4b1	T	A	2: 89,980,188 (GRCm39)	H54L	probably benign	Het
Or6c88	A	G	10: 129,406,493 (GRCm39)		probably benign	Het
Pex1	A	G	5: 3,680,222 (GRCm39)	D948G	probably damaging	Het
Pkd1l2	A	T	8: 117,755,218 (GRCm39)	I1660N	possibly damaging	Het
Pkp2	T	A	16: 16,079,537 (GRCm39)	Y540N	possibly damaging	Het
Pkp4	T	C	2: 59,142,110 (GRCm39)	L471P	probably damaging	Het
Plekhm3	A	T	1: 64,977,143 (GRCm39)	M109K	probably benign	Het
Plekhn1	T	C	4: 156,318,418 (GRCm39)	N68S	probably benign	Het
Pramel7	T	A	2: 87,321,189 (GRCm39)	D282V	possibly damaging	Het
Pxdn	T	C	12: 30,040,944 (GRCm39)	Y407H	probably benign	Het
Rab3ip	T	C	10: 116,773,546 (GRCm39)	D89G	possibly damaging	Het
Rad17	G	A	13: 100,766,019 (GRCm39)	Q370*	probably null	Het
Robo4	T	C	9: 37,322,277 (GRCm39)	C751R	probably benign	Het
Sez6	A	G	11: 77,844,356 (GRCm39)	T60A	probably damaging	Het
Socs4	A	G	14: 47,527,296 (GRCm39)	H77R	probably benign	Het
Srrm3	T	A	5: 135,881,060 (GRCm39)	M120K	probably benign	Het
Steap4	A	T	5: 8,028,453 (GRCm39)	I344F	probably benign	Het
Stk36	T	A	1: 74,672,725 (GRCm39)	F989Y	probably damaging	Het
Toporsl	A	T	4: 52,612,108 (GRCm39)	Q667L	probably benign	Het
Tspan17	T	C	13: 54,937,466 (GRCm39)	F20S	probably benign	Het
Tubgcp3	G	A	8: 12,711,359 (GRCm39)	Q65*	probably null	Het
Ush2a	A	T	1: 188,465,726 (GRCm39)	I2765F	probably benign	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdfy4	A	G	14: 32,800,264 (GRCm39)	V1954A		Het
Xrn2	T	A	2: 146,884,017 (GRCm39)		probably null	Het
Zfp687	C	T	3: 94,914,841 (GRCm39)	R1220H	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
R2184:Mta1	UTSW	12	113,093,815 (GRCm39)	critical splice donor site	probably null
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
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'- CAACTTTGTTGTCCGTAGCC -3'
(R):5'- TAGGATCTCACGGCACAAGC -3'

Sequencing Primer
(F):5'- GTAGCCACACAGTCTTACCAGTGG -3'
(R):5'- CAATGCGTGTCAACTTGGTAG -3'

Posted On

2019-10-07