Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02626:Mta2'

301099

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mta2

Ensembl Gene

ENSMUSG00000071646

Gene Name

metastasis-associated gene family, member 2

Synonyms

mmta2, Mta1l1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02626

Quality Score

Status

Chromosome

Chromosomal Location

8919239-8929659 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8926532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 491 (I491N)

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 damaging
Transcript: ENSMUST00000096240
AA Change: I491N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093959
Gene: ENSMUSG00000071646
AA Change: I491N

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

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,949,810 (GRCm39)	K1236E	probably damaging	Het
Actl7a	A	T	4: 56,744,353 (GRCm39)	E293D	possibly damaging	Het
Adamts2	T	C	11: 50,667,082 (GRCm39)	Y460H	probably damaging	Het
Aoc1	G	A	6: 48,883,044 (GRCm39)	V307I	probably benign	Het
Ar	C	T	X: 97,358,492 (GRCm39)	H756Y	probably damaging	Het
Atg3	C	T	16: 45,004,048 (GRCm39)	R224W	probably benign	Het
Atp5po	G	A	16: 91,483,201 (GRCm39)	P47S	probably damaging	Het
Bicd1	A	G	6: 149,311,054 (GRCm39)	E43G	probably damaging	Het
Ccdc88c	A	G	12: 100,934,059 (GRCm39)		probably benign	Het
Cd33	A	G	7: 43,179,736 (GRCm39)		probably benign	Het
Cd36	T	A	5: 18,002,126 (GRCm39)	R292*	probably null	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh23	T	C	10: 60,227,580 (GRCm39)	D1167G	probably damaging	Het
Cdk5rap1	A	G	2: 154,207,880 (GRCm39)		probably null	Het
Chd6	A	G	2: 160,881,270 (GRCm39)		probably benign	Het
Chd7	A	T	4: 8,826,519 (GRCm39)	Y961F	probably damaging	Het
Cpe	T	C	8: 65,145,829 (GRCm39)	E52G	probably benign	Het
Cpne5	C	T	17: 29,379,311 (GRCm39)	G491S	probably damaging	Het
Csmd3	A	T	15: 47,567,503 (GRCm39)		probably benign	Het
Ctbp2	T	A	7: 132,600,940 (GRCm39)	T608S	probably benign	Het
Cybb	A	G	X: 9,335,439 (GRCm39)		probably null	Het
Daam2	T	C	17: 49,797,282 (GRCm39)	T168A	possibly damaging	Het
Dnah5	G	T	15: 28,307,422 (GRCm39)	V1717F	possibly damaging	Het
Dse	G	A	10: 34,029,158 (GRCm39)	T644I	probably damaging	Het
Dtd2	A	C	12: 52,051,708 (GRCm39)	Y45*	probably null	Het
Fgfr1op2	T	A	6: 146,491,509 (GRCm39)	M124K	probably benign	Het
Flii	T	C	11: 60,610,685 (GRCm39)	D537G	probably benign	Het
Fntb	T	A	12: 76,944,145 (GRCm39)	I217N	probably benign	Het
Foxi1	A	G	11: 34,155,860 (GRCm39)	S257P	probably benign	Het
Fyn	G	A	10: 39,402,798 (GRCm39)	R190H	probably damaging	Het
Gm28557	T	A	13: 67,223,008 (GRCm39)	T8S	probably benign	Het
Gramd1b	T	C	9: 40,209,306 (GRCm39)	K873E	probably damaging	Het
Grb10	T	C	11: 11,895,503 (GRCm39)	T329A	probably benign	Het
Haus5	A	G	7: 30,356,675 (GRCm39)	L477P	probably damaging	Het
Hectd4	A	T	5: 121,491,944 (GRCm39)	E3761V	possibly damaging	Het
Ift172	T	C	5: 31,421,840 (GRCm39)	I930V	probably benign	Het
Itprid1	T	A	6: 55,945,631 (GRCm39)	V784D	probably benign	Het
Izumo2	A	G	7: 44,358,560 (GRCm39)		probably benign	Het
Map4k4	A	G	1: 40,053,257 (GRCm39)		probably benign	Het
Morc1	A	G	16: 48,436,123 (GRCm39)	S753G	probably damaging	Het
Mpzl2	C	T	9: 44,955,590 (GRCm39)	T167I	probably damaging	Het
Myo18b	A	T	5: 113,025,951 (GRCm39)	I33N	unknown	Het
Nub1	C	T	5: 24,908,462 (GRCm39)	H404Y	possibly damaging	Het
Or10ak13	T	C	4: 118,639,531 (GRCm39)	M84V	probably damaging	Het
Or4f58	A	T	2: 111,851,458 (GRCm39)	V247E	probably damaging	Het
Or5d47	T	C	2: 87,804,068 (GRCm39)	N314D	probably benign	Het
Or8d2b	T	C	9: 38,788,784 (GRCm39)	L104S	probably benign	Het
Ralyl	A	T	3: 13,842,094 (GRCm39)	M77L	probably benign	Het
Rap1gap	T	A	4: 137,454,364 (GRCm39)	V649E	probably benign	Het
Rnf40	C	A	7: 127,195,744 (GRCm39)	Q663K	probably damaging	Het
Slc22a18	T	C	7: 143,052,837 (GRCm39)	L354P	probably damaging	Het
Slc9a8	T	C	2: 167,309,597 (GRCm39)		probably benign	Het
Surf4	C	T	2: 26,815,619 (GRCm39)		probably null	Het
T	A	T	17: 8,654,069 (GRCm39)	N85Y	probably damaging	Het
Tanc1	A	G	2: 59,630,216 (GRCm39)	E732G	probably damaging	Het
Tas2r138	A	G	6: 40,589,649 (GRCm39)	V199A	possibly damaging	Het
Trim43b	T	C	9: 88,967,541 (GRCm39)	Y365C	possibly damaging	Het
Ubd	T	C	17: 37,506,573 (GRCm39)	L153P	probably damaging	Het
Xpnpep2	A	C	X: 47,215,786 (GRCm39)	M513L	probably benign	Het
Zar1l	C	T	5: 150,441,210 (GRCm39)	G139R	probably damaging	Het
Zc3hav1	T	G	6: 38,309,926 (GRCm39)	T299P	probably damaging	Het
Zfp236	C	A	18: 82,676,120 (GRCm39)		probably benign	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
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
R4999:Mta2	UTSW	19	8,927,747 (GRCm39)	missense	probably benign
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

Posted On

2015-04-16