Mutagenetix > Incidental Mutation

Incidental Mutation 'R4999:Mta2'

389778

Institutional Source

Beutler Lab

Gene Symbol

Mta2

Ensembl Gene

ENSMUSG00000071646

Gene Name

metastasis-associated gene family, member 2

Synonyms

mmta2, Mta1l1

MMRRC Submission

042593-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4999 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8919239-8929659 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 8927747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 523 (D523Y)

Ref Sequence

ENSEMBL: ENSMUSP00000093959 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096239] [ENSMUST00000096240]

AlphaFold

Q9R190

Predicted Effect

probably benign
Transcript: ENSMUST00000096239

SMART Domains

Protein: ENSMUSP00000093958
Gene: ENSMUSG00000071645

Domain	Start	End	E-Value	Type
ZnF_C2H2	16	40	1.53e-1	SMART
RRM	57	124	2.02e-10	SMART
SCOP:d1f5aa2	173	221	1e-3	SMART
low complexity region	242	258	N/A	INTRINSIC
low complexity region	300	314	N/A	INTRINSIC
low complexity region	324	347	N/A	INTRINSIC
low complexity region	423	434	N/A	INTRINSIC
Pfam:PAP_assoc	493	552	2.7e-8	PFAM
low complexity region	594	618	N/A	INTRINSIC
low complexity region	767	782	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000096240
AA Change: D523Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000093959
Gene: ENSMUSG00000071646
AA Change: D523Y

Domain	Start	End	E-Value	Type
BAH	4	144	7.34e-34	SMART
ELM2	147	201	5.58e-15	SMART
SANT	264	313	2.24e-7	SMART
ZnF_GATA	361	415	5.5e-15	SMART
low complexity region	475	490	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132463

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135300

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137956

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169535

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.7%

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 has been identified as a component of NuRD, a nucleosome remodeling deacetylase complex identified in the nucleus of human cells. It shows a very broad expression pattern and is strongly expressed in many tissues. It may represent one member of a small gene family that encode different but related proteins involved either directly or indirectly in transcriptional regulation. Their indirect effects on transcriptional regulation may include chromatin remodeling. It is closely related to another member of this family, a protein that has been correlated with the metastatic potential of certain carcinomas. These two proteins are so closely related 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. One of the proteins known to be a target protein for this gene product is p53. Deacetylation of p53 is correlated with a loss of growth inhibition in transformed cells supporting a connection between these gene family members and metastasis. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit partial embryonic and perinatal lethality, reduced weight, shortened lifespan, and increased susceptibility to systemic lupus erythematosus with increased T cell proliferation under Th2 conditions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	A	G	1: 16,139,022 (GRCm39)		probably null	Het
Abca4	T	A	3: 121,899,019 (GRCm39)	V667D	probably damaging	Het
Aco1	A	G	4: 40,176,507 (GRCm39)	I224V	probably damaging	Het
Arel1	C	T	12: 84,978,541 (GRCm39)	V364M	probably damaging	Het
Arhgap42	A	G	9: 9,009,435 (GRCm39)	V484A	probably damaging	Het
Asap2	T	C	12: 21,302,766 (GRCm39)	F681L	probably benign	Het
Atrn	C	A	2: 130,817,874 (GRCm39)	D809E	probably damaging	Het
Ccdc70	G	A	8: 22,463,266 (GRCm39)	V19M	possibly damaging	Het
Ccp110	G	T	7: 118,329,235 (GRCm39)	E73*	probably null	Het
Cfap57	A	C	4: 118,453,045 (GRCm39)	S553A	probably benign	Het
Cftr	A	G	6: 18,221,613 (GRCm39)	K212E	probably benign	Het
Chkb	A	T	15: 89,312,368 (GRCm39)	Y216N	probably damaging	Het
Cntnap2	G	T	6: 45,897,768 (GRCm39)	D149Y	probably damaging	Het
Cpd	A	G	11: 76,737,048 (GRCm39)		probably null	Het
Creb3l1	C	T	2: 91,813,571 (GRCm39)	D489N	probably benign	Het
Crhbp	A	G	13: 95,578,753 (GRCm39)	F123L	probably damaging	Het
Cryab	T	C	9: 50,665,909 (GRCm39)	V100A	possibly damaging	Het
Csmd2	T	C	4: 128,415,723 (GRCm39)	I2684T	probably benign	Het
Ctbp2	G	T	7: 132,616,378 (GRCm39)	P186T	possibly damaging	Het
Ctnna2	T	C	6: 76,892,745 (GRCm39)	N814S	possibly damaging	Het
Dntt	T	C	19: 41,028,295 (GRCm39)	V197A	probably damaging	Het
Fam135a	G	A	1: 24,059,758 (GRCm39)	A1187V	possibly damaging	Het
Filip1l	A	T	16: 57,390,778 (GRCm39)	Q455H	probably benign	Het
Grm2	T	C	9: 106,531,189 (GRCm39)	E100G	probably damaging	Het
Gtf2ird2	G	A	5: 134,246,306 (GRCm39)	V855M	probably damaging	Het
Heatr9	A	T	11: 83,409,618 (GRCm39)	I118N	possibly damaging	Het
Htra3	T	C	5: 35,828,469 (GRCm39)	H137R	probably benign	Het
Iars1	A	G	13: 49,863,137 (GRCm39)	S530G	probably damaging	Het
Klhdc4	T	A	8: 122,523,342 (GRCm39)	M510L	probably benign	Het
Lipc	T	C	9: 70,724,013 (GRCm39)	T204A	probably benign	Het
Lrp1	A	G	10: 127,389,648 (GRCm39)	V3129A	probably damaging	Het
Macf1	G	A	4: 123,388,702 (GRCm39)	T1120I	probably benign	Het
Maco1	A	G	4: 134,555,444 (GRCm39)	I343T	probably benign	Het
Map4	T	C	9: 109,867,445 (GRCm39)		probably benign	Het
Mbtps1	A	T	8: 120,260,087 (GRCm39)	V420D	probably damaging	Het
Mtcl2	C	T	2: 156,864,776 (GRCm39)	G1144D	probably benign	Het
Muc4	A	G	16: 32,576,670 (GRCm39)		probably benign	Het
Mug1	C	T	6: 121,855,902 (GRCm39)	Q965*	probably null	Het
Myo1e	T	A	9: 70,260,594 (GRCm39)	I584N	probably damaging	Het
Nolc1	T	C	19: 46,067,359 (GRCm39)	V80A	probably damaging	Het
Nop56	G	T	2: 130,117,645 (GRCm39)	V91L	probably benign	Het
Or5b99	A	T	19: 12,976,583 (GRCm39)	M78L	probably benign	Het
Or5h23	A	T	16: 58,906,765 (GRCm39)	L27Q	probably damaging	Het
Or6f2	T	C	7: 139,756,933 (GRCm39)	V300A	probably damaging	Het
Osbpl3	T	C	6: 50,313,277 (GRCm39)	E107G	probably damaging	Het
Pde3a	T	A	6: 141,195,751 (GRCm39)	C146S	probably benign	Het
Pfkm	A	G	15: 98,026,123 (GRCm39)	M573V	probably damaging	Het
Pkd1l2	C	T	8: 117,774,113 (GRCm39)		probably null	Het
Plekhg3	T	C	12: 76,612,021 (GRCm39)	I374T	possibly damaging	Het
Ppig	T	A	2: 69,571,830 (GRCm39)	V183D	unknown	Het
Prom1	T	G	5: 44,194,876 (GRCm39)	I290L	probably benign	Het
Rufy3	T	A	5: 88,785,085 (GRCm39)	M387K	probably damaging	Het
Selenoo	G	A	15: 88,978,387 (GRCm39)	R270H	probably damaging	Het
Sema3d	T	A	5: 12,558,054 (GRCm39)		probably null	Het
Sema6c	C	T	3: 95,075,674 (GRCm39)	T175I	probably damaging	Het
Serpina3k	T	C	12: 104,307,305 (GRCm39)	I179T	probably damaging	Het
Sf3b3	T	C	8: 111,567,835 (GRCm39)	T207A	probably benign	Het
Slc22a26	C	A	19: 7,779,546 (GRCm39)	R90L	probably damaging	Het
Slitrk5	T	C	14: 111,917,648 (GRCm39)	V424A	probably damaging	Het
Smarca2	G	T	19: 26,698,255 (GRCm39)	E89*	probably null	Het
Stab2	T	A	10: 86,773,773 (GRCm39)	S853C	probably damaging	Het
Stk17b	A	T	1: 53,800,306 (GRCm39)		probably null	Het
Taar5	T	A	10: 23,847,445 (GRCm39)	I281N	possibly damaging	Het
Tars3	A	T	7: 65,308,683 (GRCm39)	E284D	probably damaging	Het
Tbx15	C	A	3: 99,223,649 (GRCm39)	T279K	probably damaging	Het
Tfr2	G	A	5: 137,585,187 (GRCm39)	V740I	probably benign	Het
Tlr12	T	C	4: 128,511,473 (GRCm39)	E259G	probably benign	Het
Tmem145	A	G	7: 25,008,459 (GRCm39)	T302A	probably benign	Het
Trappc14	T	A	5: 138,259,884 (GRCm39)	T391S	probably damaging	Het
Trpa1	G	T	1: 14,946,085 (GRCm39)	H1015Q	probably benign	Het
Tspan8	A	G	10: 115,653,534 (GRCm39)	Y10C	possibly damaging	Het
Ttll7	A	G	3: 146,600,224 (GRCm39)	N44S	probably damaging	Het
Uba7	T	C	9: 107,857,038 (GRCm39)		probably null	Het
Ube2j2	G	A	4: 156,030,841 (GRCm39)	M1I	probably null	Het
Ubr5	C	A	15: 38,009,912 (GRCm39)	A1022S	probably benign	Het
Usf1	T	G	1: 171,243,331 (GRCm39)	I36S	probably damaging	Het
Vmn1r181	A	T	7: 23,683,790 (GRCm39)	D85V	probably damaging	Het
Vmn1r3	A	T	4: 3,185,009 (GRCm39)	Y99*	probably null	Het
Vmn1r72	T	C	7: 11,404,300 (GRCm39)	I49M	possibly damaging	Het
Vmn2r99	A	G	17: 19,582,397 (GRCm39)	M1V	probably null	Het
Vsig10	T	A	5: 117,482,040 (GRCm39)	V410E	probably damaging	Het
Zc3h7b	A	G	15: 81,663,334 (GRCm39)	Y442C	probably damaging	Het
Zfyve26	G	T	12: 79,327,159 (GRCm39)	Y730*	probably null	Het

Other mutations in Mta2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Mta2	APN	19	8,924,465 (GRCm39)	missense	probably benign	0.23
IGL01098:Mta2	APN	19	8,924,081 (GRCm39)	missense	probably damaging	0.98
IGL01148:Mta2	APN	19	8,925,668 (GRCm39)	missense	probably damaging	0.98
IGL01897:Mta2	APN	19	8,925,130 (GRCm39)	nonsense	probably null
IGL02054:Mta2	APN	19	8,928,276 (GRCm39)	missense	probably benign
IGL02157:Mta2	APN	19	8,924,613 (GRCm39)	splice site	probably benign
IGL02452:Mta2	APN	19	8,927,670 (GRCm39)	missense	probably benign	0.00
IGL02563:Mta2	APN	19	8,925,415 (GRCm39)	missense	probably benign
IGL02626:Mta2	APN	19	8,926,532 (GRCm39)	missense	probably damaging	1.00
IGL02695:Mta2	APN	19	8,925,728 (GRCm39)	missense	probably benign	0.01
Pecan	UTSW	19	8,925,139 (GRCm39)	missense	probably damaging	1.00
R1208:Mta2	UTSW	19	8,928,381 (GRCm39)	missense	probably damaging	1.00
R1208:Mta2	UTSW	19	8,928,381 (GRCm39)	missense	probably damaging	1.00
R1301:Mta2	UTSW	19	8,926,550 (GRCm39)	splice site	probably benign
R1731:Mta2	UTSW	19	8,925,088 (GRCm39)	splice site	probably null
R1990:Mta2	UTSW	19	8,919,696 (GRCm39)	unclassified	probably benign
R2116:Mta2	UTSW	19	8,920,880 (GRCm39)	missense	probably damaging	1.00
R2117:Mta2	UTSW	19	8,920,880 (GRCm39)	missense	probably damaging	1.00
R4614:Mta2	UTSW	19	8,925,492 (GRCm39)	splice site	probably null
R4710:Mta2	UTSW	19	8,926,517 (GRCm39)	missense	probably damaging	1.00
R4801:Mta2	UTSW	19	8,923,215 (GRCm39)	missense	probably damaging	1.00
R4802:Mta2	UTSW	19	8,923,215 (GRCm39)	missense	probably damaging	1.00
R4947:Mta2	UTSW	19	8,923,655 (GRCm39)	missense	possibly damaging	0.68
R5340:Mta2	UTSW	19	8,919,720 (GRCm39)	start codon destroyed	probably null	0.89
R5518:Mta2	UTSW	19	8,925,456 (GRCm39)	missense	probably benign	0.01
R6044:Mta2	UTSW	19	8,925,695 (GRCm39)	missense	probably damaging	0.99
R7096:Mta2	UTSW	19	8,925,139 (GRCm39)	missense	probably damaging	1.00
R7604:Mta2	UTSW	19	8,923,200 (GRCm39)	missense	probably damaging	1.00
R7919:Mta2	UTSW	19	8,926,498 (GRCm39)	nonsense	probably null
R7992:Mta2	UTSW	19	8,925,151 (GRCm39)	critical splice donor site	probably null
R8198:Mta2	UTSW	19	8,925,145 (GRCm39)	missense	probably benign	0.31
R8476:Mta2	UTSW	19	8,928,352 (GRCm39)	missense	probably benign	0.00
R9069:Mta2	UTSW	19	8,924,104 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTCACTGCAGAGTACCCAG -3'
(R):5'- ACAAAAGCTCTAAGTTGTGTGGAC -3'

Sequencing Primer
(F):5'- TTCTCACTGCAGAGTACCCAGG -3'
(R):5'- CTCAGTGTCAAAGAAAAACTCTGG -3'

Posted On

2016-06-06