Mutagenetix > Incidental Mutation

Incidental Mutation 'R7096:Mta2'

550528

Institutional Source

Beutler Lab

Gene Symbol

Mta2

Ensembl Gene

ENSMUSG00000071646

Gene Name

metastasis-associated gene family, member 2

Synonyms

mmta2, Mta1l1

MMRRC Submission

045188-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7096 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8919239-8929659 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8925139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 336 (I336F)

Ref Sequence

ENSEMBL: ENSMUSP00000093959 (fasta)

Gene Model

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

AlphaFold

Q9R190

Predicted Effect

probably damaging
Transcript: ENSMUST00000096240
AA Change: I336F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000093959
Gene: ENSMUSG00000071646
AA Change: I336F

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

Meta Mutation Damage Score

0.7451

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (68/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	G	3: 40,888,305 (GRCm39)	M383R	probably damaging	Het
Acd	T	A	8: 106,425,121 (GRCm39)	E366V	possibly damaging	Het
Acvr2b	T	A	9: 119,257,255 (GRCm39)		probably null	Het
Alg10b	C	T	15: 90,111,564 (GRCm39)	T136I	probably benign	Het
Ankrd42	T	A	7: 92,241,040 (GRCm39)	K440*	probably null	Het
Apc	T	A	18: 34,449,010 (GRCm39)	S1969T	probably damaging	Het
Arhgef25	T	C	10: 127,019,897 (GRCm39)	Y447C	probably damaging	Het
AW146154	G	A	7: 41,130,867 (GRCm39)	A83V	probably benign	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Barhl1	T	G	2: 28,799,726 (GRCm39)	I300L	probably benign	Het
Brd1	C	A	15: 88,598,138 (GRCm39)	R536L	probably damaging	Het
Brms1	T	A	19: 5,096,708 (GRCm39)	I130N	probably damaging	Het
Ccdc68	A	G	18: 70,073,241 (GRCm39)	H63R	probably damaging	Het
Ccl28	A	G	13: 120,112,429 (GRCm39)	I74V	probably benign	Het
Cd300ld	T	A	11: 114,878,321 (GRCm39)	I64F	possibly damaging	Het
Cdkl2	G	A	5: 92,181,043 (GRCm39)	Q199*	probably null	Het
Cdkn2c	C	T	4: 109,518,555 (GRCm39)	R133Q	probably benign	Het
Coq2	A	G	5: 100,811,586 (GRCm39)		probably benign	Het
Coq6	T	C	12: 84,408,595 (GRCm39)		probably null	Het
Csmd2	C	T	4: 128,356,519 (GRCm39)	S1608L		Het
Cyp11b2	T	A	15: 74,727,837 (GRCm39)	R82W	probably damaging	Het
Cyp2d10	T	C	15: 82,289,462 (GRCm39)	T217A	probably benign	Het
Dclk2	C	T	3: 86,700,566 (GRCm39)	R638H	probably damaging	Het
Dnah7a	T	C	1: 53,522,599 (GRCm39)	I2880V	possibly damaging	Het
Dync1h1	C	A	12: 110,623,512 (GRCm39)	T3595K	probably damaging	Het
Ecscr	T	A	18: 35,848,478 (GRCm39)	E183V	probably damaging	Het
Elovl6	A	G	3: 129,398,755 (GRCm39)	N52S	probably benign	Het
Eps8l1	G	T	7: 4,477,190 (GRCm39)	A455S	probably benign	Het
Gpat2	A	G	2: 127,270,209 (GRCm39)	N74S	probably benign	Het
Gstk1	C	A	6: 42,226,407 (GRCm39)	T172K	probably damaging	Het
Gtf3c1	T	C	7: 125,295,731 (GRCm39)		probably null	Het
Gucy2c	T	C	6: 136,705,339 (GRCm39)	D532G	probably benign	Het
Hoxc12	T	A	15: 102,845,473 (GRCm39)	N62K	possibly damaging	Het
Hsdl1	C	A	8: 120,293,064 (GRCm39)	A124S	possibly damaging	Het
Il11	T	C	7: 4,778,995 (GRCm39)	Y45C	probably damaging	Het
Lcat	C	T	8: 106,666,309 (GRCm39)	M404I	possibly damaging	Het
Ldhb	A	G	6: 142,447,099 (GRCm39)	F72L	probably benign	Het
Map10	T	C	8: 126,398,662 (GRCm39)	L685P	probably damaging	Het
Me2	A	G	18: 73,927,961 (GRCm39)	V174A	probably benign	Het
Med13l	C	A	5: 118,859,991 (GRCm39)	Q328K	possibly damaging	Het
Mterf1a	A	T	5: 3,941,769 (GRCm39)	I33N	probably damaging	Het
Myo15b	T	A	11: 115,782,324 (GRCm39)		probably null	Het
Myof	C	A	19: 37,924,648 (GRCm39)	G1215V	probably damaging	Het
Nlgn2	G	A	11: 69,716,516 (GRCm39)	T675M	probably damaging	Het
Or1e26	T	A	11: 73,480,463 (GRCm39)	M34L	probably benign	Het
Or5p61	C	A	7: 107,758,848 (GRCm39)	M77I	probably benign	Het
Or6c38	T	C	10: 128,929,715 (GRCm39)	I43V	probably damaging	Het
Padi3	T	C	4: 140,527,435 (GRCm39)	D122G	probably damaging	Het
Pcnx3	G	A	19: 5,722,643 (GRCm39)	R1350C	probably damaging	Het
Pdzrn4	C	A	15: 92,295,384 (GRCm39)	Q197K	probably benign	Het
Pitpnm2	C	T	5: 124,267,324 (GRCm39)	G639S	possibly damaging	Het
Piwil4	T	A	9: 14,648,112 (GRCm39)	K156*	probably null	Het
Pkmyt1	T	A	17: 23,953,087 (GRCm39)	H214Q	probably damaging	Het
Pnpt1	G	A	11: 29,104,867 (GRCm39)	R597Q	probably benign	Het
Poteg	C	A	8: 27,963,595 (GRCm39)	A344E	probably benign	Het
Rad21l	A	G	2: 151,509,840 (GRCm39)	M87T	probably benign	Het
Ranbp17	T	C	11: 33,424,896 (GRCm39)	I487V	probably benign	Het
Rap1gap2	C	A	11: 74,283,057 (GRCm39)	R681L	probably damaging	Het
Rimbp2	C	A	5: 128,851,333 (GRCm39)	R871L	probably damaging	Het
Rnf135	T	C	11: 80,080,051 (GRCm39)	V114A	probably benign	Het
Skic2	T	A	17: 35,060,446 (GRCm39)	H849L	probably benign	Het
Snai2	A	G	16: 14,525,028 (GRCm39)	H178R	possibly damaging	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Taar1	A	T	10: 23,796,809 (GRCm39)	E169V	possibly damaging	Het
Tdrd12	G	T	7: 35,187,014 (GRCm39)	D625E		Het
Tlr6	A	G	5: 65,111,119 (GRCm39)	V596A	probably benign	Het
Trak2	T	G	1: 58,942,749 (GRCm39)	N886H	probably damaging	Het
Tsga10	T	A	1: 37,879,695 (GRCm39)	D32V	probably damaging	Het
Vmn1r214	A	G	13: 23,219,196 (GRCm39)	D230G	probably damaging	Het
Vmn2r108	A	G	17: 20,682,762 (GRCm39)	L814S	probably damaging	Het
Zbbx	T	C	3: 74,989,044 (GRCm39)	D353G	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
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
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
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'- ACCGGTATATTCAGCAGGTATGG -3'
(R):5'- AAACAACCCACTTGTGTCTCTC -3'

Sequencing Primer
(F):5'- ATATTCAGCAGGTATGGGTCAGGC -3'
(R):5'- AACAACCCACTTGTGTCTCTCTTACC -3'

Posted On

2019-05-15