Mutagenetix > Incidental Mutation

Incidental Mutation 'R1774:Mta1'

196961

Institutional Source

Beutler Lab

Gene Symbol

Mta1

Ensembl Gene

ENSMUSG00000021144

Gene Name

metastasis associated 1

Synonyms

MMRRC Submission

039805-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1774 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113061898-113100826 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 113091659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 254 (A254V)

Ref Sequence

ENSEMBL: ENSMUSP00000105349 (fasta)

Gene Model

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

AlphaFold

Q8K4B0

Predicted Effect

probably damaging
Transcript: ENSMUST00000009099
AA Change: A254V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000009099
Gene: ENSMUSG00000021144
AA Change: A254V

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 damaging
Transcript: ENSMUST00000069690
AA Change: A237V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064338
Gene: ENSMUSG00000021144
AA Change: A237V

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 damaging
Transcript: ENSMUST00000109723
AA Change: A254V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105345
Gene: ENSMUSG00000021144
AA Change: A254V

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 damaging
Transcript: ENSMUST00000109726
AA Change: A237V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105348
Gene: ENSMUSG00000021144
AA Change: A237V

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 damaging
Transcript: ENSMUST00000109727
AA Change: A254V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105349
Gene: ENSMUSG00000021144
AA Change: A254V

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: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.0%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	C	5: 144,982,351 (GRCm39)	V312A	probably damaging	Het
2810408A11Rik	A	G	11: 69,791,453 (GRCm39)	V42A	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Angpt1	T	A	15: 42,387,012 (GRCm39)	Q114L	probably damaging	Het
Apc2	T	C	10: 80,144,964 (GRCm39)	I625T	probably damaging	Het
Atg2a	T	C	19: 6,300,628 (GRCm39)	V735A	probably benign	Het
Birc6	T	A	17: 74,947,008 (GRCm39)	I2909N	probably damaging	Het
C7	C	G	15: 5,041,557 (GRCm39)	D450H	probably damaging	Het
Cachd1	C	T	4: 100,821,632 (GRCm39)	T403I	probably damaging	Het
Cachd1	T	A	4: 100,824,240 (GRCm39)	F560L	probably benign	Het
Cacna2d2	A	T	9: 107,403,350 (GRCm39)	Y944F	probably benign	Het
Cdkal1	C	T	13: 30,034,031 (GRCm39)	D21N	probably damaging	Het
Col18a1	T	C	10: 76,895,815 (GRCm39)	R901G	probably damaging	Het
Col27a1	C	T	4: 63,143,950 (GRCm39)	P546L	probably damaging	Het
Cps1	C	T	1: 67,210,041 (GRCm39)	R624W	possibly damaging	Het
Cyp11a1	A	T	9: 57,925,643 (GRCm39)	I93F	probably benign	Het
Cyp2c40	G	C	19: 39,775,250 (GRCm39)	T334R	probably damaging	Het
Cyp4f37	A	G	17: 32,848,864 (GRCm39)	D244G	possibly damaging	Het
D630003M21Rik	A	T	2: 158,062,390 (GRCm39)	D43E	probably damaging	Het
Ep400	C	A	5: 110,833,357 (GRCm39)	C1955F	unknown	Het
Ethe1	G	A	7: 24,293,371 (GRCm39)	V6I	probably benign	Het
F5	C	A	1: 164,020,104 (GRCm39)	Q860K	probably benign	Het
Fasn	T	C	11: 120,707,997 (GRCm39)	Y685C	probably damaging	Het
Gga2	T	G	7: 121,611,444 (GRCm39)	D38A	probably damaging	Het
Gm43302	T	A	5: 105,423,660 (GRCm39)	I438F	probably benign	Het
Grm1	T	A	10: 10,955,610 (GRCm39)	T225S	possibly damaging	Het
Hic2	G	T	16: 17,076,511 (GRCm39)	V447L	probably damaging	Het
Hsf2	G	A	10: 57,388,242 (GRCm39)	C462Y	probably damaging	Het
Ice1	T	C	13: 70,752,672 (GRCm39)	D1138G	probably damaging	Het
Il6	A	G	5: 30,224,433 (GRCm39)	T158A	probably benign	Het
Inpp5d	T	A	1: 87,595,611 (GRCm39)	V120E	probably benign	Het
Iqca1	T	C	1: 90,008,625 (GRCm39)	N456S	probably benign	Het
Itgal	T	A	7: 126,908,794 (GRCm39)		probably null	Het
Lrrc66	G	C	5: 73,768,198 (GRCm39)	Q248E	probably benign	Het
Lrrc7	T	A	3: 157,865,929 (GRCm39)	M1271L	possibly damaging	Het
Lrrc74a	T	C	12: 86,795,827 (GRCm39)	S267P	probably damaging	Het
Map2	T	C	1: 66,453,233 (GRCm39)	S550P	probably damaging	Het
Mapk8ip3	A	T	17: 25,143,119 (GRCm39)		probably null	Het
Mdm4	A	C	1: 132,924,384 (GRCm39)	S246A	probably damaging	Het
Med23	A	G	10: 24,779,584 (GRCm39)	E887G	probably damaging	Het
Myh2	A	G	11: 67,064,300 (GRCm39)	Y85C	possibly damaging	Het
Myo1g	A	G	11: 6,465,988 (GRCm39)	Y366H	probably damaging	Het
Nalcn	G	A	14: 123,515,678 (GRCm39)	P1708S	probably benign	Het
Nlrp9c	A	T	7: 26,093,543 (GRCm39)	S41T	probably benign	Het
Nptx2	T	A	5: 144,490,248 (GRCm39)	S226T	possibly damaging	Het
Nup85	T	A	11: 115,473,771 (GRCm39)	S562T	probably benign	Het
Nxpe5	T	C	5: 138,237,797 (GRCm39)	V107A	probably benign	Het
Obi1	A	G	14: 104,717,098 (GRCm39)	V425A	possibly damaging	Het
Oga	T	C	19: 45,765,423 (GRCm39)	E128G	probably benign	Het
Or10ac1	A	T	6: 42,515,453 (GRCm39)	F168I	probably damaging	Het
Or10al7	A	G	17: 38,366,328 (GRCm39)	V43A	probably benign	Het
Or13c3	T	A	4: 52,855,674 (GRCm39)	I280F	probably benign	Het
Or6p1	A	G	1: 174,258,905 (GRCm39)	T304A	probably benign	Het
Pcdhb12	C	T	18: 37,569,495 (GRCm39)	P214S	possibly damaging	Het
Pcdhb5	T	A	18: 37,455,725 (GRCm39)	F702I	probably damaging	Het
Pcnx1	T	C	12: 82,022,094 (GRCm39)	F1475S	probably damaging	Het
Pde5a	C	A	3: 122,523,013 (GRCm39)	T40N	probably benign	Het
Pnpla2	T	A	7: 141,039,481 (GRCm39)	V398E	probably damaging	Het
Pramel19	G	A	4: 101,797,655 (GRCm39)	V18M	probably benign	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rab20	T	C	8: 11,504,223 (GRCm39)	K159R	probably benign	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rgs12	T	A	5: 35,123,747 (GRCm39)	V510D	probably benign	Het
Slamf6	T	C	1: 171,770,154 (GRCm39)		probably benign	Het
Slc27a5	A	T	7: 12,731,534 (GRCm39)	C23*	probably null	Het
Slc35e2	T	C	4: 155,694,621 (GRCm39)	V56A	possibly damaging	Het
Slx4ip	T	C	2: 136,909,643 (GRCm39)	S143P	probably damaging	Het
Stat5a	C	T	11: 100,770,112 (GRCm39)	S463F	probably damaging	Het
Svep1	T	C	4: 58,146,562 (GRCm39)	D360G	possibly damaging	Het
Tas2r143	A	T	6: 42,377,305 (GRCm39)	D45V	probably damaging	Het
Tdrd5	G	T	1: 156,105,079 (GRCm39)	R516S	probably damaging	Het
Thy1	A	G	9: 43,958,636 (GRCm39)	D126G	probably benign	Het
Tspear	C	T	10: 77,709,019 (GRCm39)	T415I	probably benign	Het
Ttll5	C	A	12: 85,980,176 (GRCm39)	T920K	probably benign	Het
Tut4	T	C	4: 108,365,152 (GRCm39)	F542L	probably damaging	Het
Umod	T	C	7: 119,076,574 (GRCm39)	E64G	possibly damaging	Het
Usf3	A	G	16: 44,036,033 (GRCm39)	N171S	probably damaging	Het
Vmn1r23	T	A	6: 57,903,675 (GRCm39)	R34S	probably damaging	Het
Wasf1	C	G	10: 40,810,475 (GRCm39)	P239R	possibly damaging	Het
Wdr95	C	T	5: 149,487,857 (GRCm39)	R164*	probably null	Het
Zan	C	A	5: 137,418,251 (GRCm39)	C2949F	unknown	Het
Zbed4	T	C	15: 88,665,080 (GRCm39)	S383P	probably benign	Het
Zfand5	T	A	19: 21,253,895 (GRCm39)	C33S	probably damaging	Het
Zfp12	A	G	5: 143,230,984 (GRCm39)	Y437C	probably damaging	Het
Zfp451	A	C	1: 33,852,849 (GRCm39)	S22A	probably benign	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
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
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'- AAGGACTCAGGACTCCAGCCTTTC -3'
(R):5'- TCCACAGCAGTATCCTAGCTCCAG -3'

Sequencing Primer
(F):5'- TATCTAACATGCTAAGGGAGTTAGGG -3'
(R):5'- ACCATCCCTGGACTGAGAG -3'

Posted On

2014-05-23