Mutagenetix > Incidental Mutation

Incidental Mutation 'R5656:Mta1'

442347

Institutional Source

Beutler Lab

Gene Symbol

Mta1

Ensembl Gene

ENSMUSG00000021144

Gene Name

metastasis associated 1

Synonyms

MMRRC Submission

043302-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5656 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113098278-113137206 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113123139 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 152 (V152A)

Ref Sequence

ENSEMBL: ENSMUSP00000009099 (fasta)

Gene Model

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

AlphaFold

Q8K4B0

Predicted Effect

probably damaging
Transcript: ENSMUST00000009099
AA Change: V152A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000009099
Gene: ENSMUSG00000021144
AA Change: V152A

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 benign
Transcript: ENSMUST00000069690
AA Change: V135A

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000064338
Gene: ENSMUSG00000021144
AA Change: V135A

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
AA Change: V152A

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105345
Gene: ENSMUSG00000021144
AA Change: V152A

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 benign
Transcript: ENSMUST00000109726
AA Change: V135A

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105348
Gene: ENSMUSG00000021144
AA Change: V135A

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
AA Change: V152A

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105349
Gene: ENSMUSG00000021144
AA Change: V152A

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 105,709,512	S139G	probably benign	Het
Adrb3	T	C	8: 27,227,377	D348G	probably damaging	Het
Atg2b	A	G	12: 105,621,328	V1959A	probably benign	Het
Bicral	G	A	17: 46,808,369	T742M	probably damaging	Het
Bub1b	T	A	2: 118,605,431	I60N	probably damaging	Het
Ccdc162	A	G	10: 41,569,934	V414A	probably benign	Het
Cd22	T	G	7: 30,869,773	Y612S	probably damaging	Het
Cd68	T	A	11: 69,664,421	I320F	probably damaging	Het
Clca3a2	A	T	3: 144,797,632	N852K	probably benign	Het
Cpa6	T	A	1: 10,329,514	H363L	probably benign	Het
Ddx18	A	T	1: 121,561,358	L320Q	probably damaging	Het
Dnah5	A	G	15: 28,421,064	D3849G	probably benign	Het
Eci1	T	A	17: 24,437,309	N164K	probably damaging	Het
Efs	T	C	14: 54,917,127	T552A	probably damaging	Het
Fbp1	C	A	13: 62,875,196	V96L	probably damaging	Het
Gtf3c1	T	A	7: 125,662,654	N1139I	probably benign	Het
Gucy1b2	T	C	14: 62,422,981	Y152C	probably damaging	Het
Gxylt1	A	T	15: 93,245,661	L362Q	probably damaging	Het
Iqcd	A	G	5: 120,605,126		probably null	Het
Klhl41	T	A	2: 69,683,532	I585N	possibly damaging	Het
Map6	A	G	7: 99,336,298	K470E	probably damaging	Het
Mast3	T	C	8: 70,786,221	T496A	probably damaging	Het
Mbd6	A	T	10: 127,285,286		probably benign	Het
Melk	A	G	4: 44,312,237	K183R	possibly damaging	Het
Naa35	G	A	13: 59,622,866		probably benign	Het
Nav3	A	C	10: 109,764,633	S1378A	probably damaging	Het
Ncapd3	T	A	9: 27,051,645	D415E	possibly damaging	Het
Nlrp4f	G	A	13: 65,190,871	R651*	probably null	Het
Olfr1480	A	G	19: 13,530,380	T280A	probably benign	Het
Olfr397	T	A	11: 73,964,710	M34K	probably damaging	Het
Olfr497	A	G	7: 108,422,618	I16V	probably benign	Het
P2rx7	A	T	5: 122,673,717	R364W	probably damaging	Het
Phactr2	T	C	10: 13,388,703	D2G	probably benign	Het
Phc3	G	T	3: 30,965,866	S28R	probably damaging	Het
Ppfia1	A	T	7: 144,519,974		probably null	Het
Prdm10	C	T	9: 31,353,417	T667M	probably benign	Het
Pwwp2b	T	A	7: 139,255,971	S443T	possibly damaging	Het
Pzp	T	C	6: 128,490,072	T1113A	probably damaging	Het
Rapgef6	A	G	11: 54,636,136	E551G	possibly damaging	Het
Sec23ip	A	G	7: 128,776,784	Y774C	probably damaging	Het
Setdb2	T	C	14: 59,419,118	D266G	probably damaging	Het
Shank1	T	C	7: 44,352,886	V1343A	probably benign	Het
Slf2	T	A	19: 44,973,235	D1064E	probably benign	Het
Slu7	A	G	11: 43,443,418	K424E	probably benign	Het
Smg1	A	T	7: 118,154,664		probably benign	Het
Sptlc2	A	T	12: 87,346,761	L264Q	probably damaging	Het
Sra1	A	G	18: 36,678,407	S93P	probably damaging	Het
Sult1c1	T	C	17: 53,964,652	E169G	probably benign	Het
Sv2a	A	G	3: 96,185,572	D196G	probably damaging	Het
Tbc1d22b	A	G	17: 29,594,780	I362M	probably damaging	Het
Tenm3	T	C	8: 48,228,762	D2611G	probably damaging	Het
Tmem43	T	C	6: 91,480,708	F191L	probably benign	Het
Trbv13-2	T	A	6: 41,121,694	Y68N	probably benign	Het
Ttn	T	G	2: 76,774,654	D18312A	possibly damaging	Het
Ublcp1	A	G	11: 44,465,606	V95A	probably damaging	Het
Usp17ld	A	G	7: 103,250,840	V295A	probably damaging	Het
Vmn1r29	T	A	6: 58,308,167	L291M	possibly damaging	Het
Vsig10l	C	T	7: 43,464,151	R176*	probably null	Het
Zbtb46	A	G	2: 181,423,417		probably null	Het
Zfp644	A	G	5: 106,637,982	V233A	probably benign	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
R5032:Mta1	UTSW	12	113133525	splice site	probably null
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
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
R9132:Mta1	UTSW	12	113136405	missense	probably damaging	1.00
R9159:Mta1	UTSW	12	113136405	missense	probably damaging	1.00
R9418:Mta1	UTSW	12	113131367	missense	probably damaging	1.00
R9489:Mta1	UTSW	12	113131465	missense	probably benign
R9596:Mta1	UTSW	12	113126850	missense	probably damaging	0.99
R9682:Mta1	UTSW	12	113131764	critical splice donor site	probably null
Z1088:Mta1	UTSW	12	113133200	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- GCAGTTTGATGAGGACTCACC -3'
(R):5'- GGATGCCAATGTCCACTAGG -3'

Sequencing Primer
(F):5'- ACCTAGTCCTTACTTCACTTCTGTTG -3'
(R):5'- TCCACTAGGACGGAGGCTTG -3'

Posted On

2016-11-09