Mutagenetix > Incidental Mutation

Incidental Mutation 'R2116:Mta2'

233214

Institutional Source

Beutler Lab

Gene Symbol

Mta2

Ensembl Gene

ENSMUSG00000071646

Gene Name

metastasis-associated gene family, member 2

Synonyms

mmta2, Mta1l1

MMRRC Submission

040120-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2116 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8919239-8929659 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8920880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 27 (I27T)

Ref Sequence

ENSEMBL: ENSMUSP00000093959 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096240] [ENSMUST00000096241] [ENSMUST00000224272]

AlphaFold

Q9R190

Predicted Effect

probably damaging
Transcript: ENSMUST00000096240
AA Change: I27T

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

SMART Domains

Protein: ENSMUSP00000093959
Gene: ENSMUSG00000071646
AA Change: I27T

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

probably benign
Transcript: ENSMUST00000096241

SMART Domains

Protein: ENSMUSP00000093960
Gene: ENSMUSG00000071647

Domain	Start	End	E-Value	Type
coiled coil region	12	47	N/A	INTRINSIC
low complexity region	96	108	N/A	INTRINSIC
low complexity region	118	139	N/A	INTRINSIC
low complexity region	149	168	N/A	INTRINSIC
low complexity region	198	208	N/A	INTRINSIC
Pfam:HELP	215	286	5.3e-30	PFAM
WD40	295	344	6.34e-2	SMART
Blast:WD40	347	392	5e-22	BLAST
WD40	395	434	1.56e-1	SMART
WD40	450	487	2.64e2	SMART
WD40	504	543	3.33e-1	SMART
WD40	587	626	2.69e-5	SMART
WD40	670	709	1.7e-2	SMART
WD40	716	755	1.52e-4	SMART
WD40	829	869	1.29e-2	SMART

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226096

Predicted Effect

probably benign
Transcript: ENSMUST00000224272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225181

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225377

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.9%

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 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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	G	15: 94,253,243 (GRCm39)	C377R	probably damaging	Het
Adgrv1	T	C	13: 81,677,132 (GRCm39)	K1180E	probably benign	Het
Ankle1	A	G	8: 71,860,562 (GRCm39)	T340A	probably benign	Het
Armc2	A	T	10: 41,839,663 (GRCm39)	L434Q	probably damaging	Het
Ash1l	C	T	3: 88,890,571 (GRCm39)	L817F	probably benign	Het
Atm	C	T	9: 53,412,269 (GRCm39)	E960K	probably benign	Het
Bend5	G	T	4: 111,272,436 (GRCm39)	R22L	probably benign	Het
Cacng6	C	T	7: 3,479,020 (GRCm39)	T133I	probably damaging	Het
Cep120	G	A	18: 53,873,208 (GRCm39)	T41I	probably damaging	Het
Ciz1	T	C	2: 32,257,477 (GRCm39)	L174P	probably damaging	Het
Cmah	G	A	13: 24,612,880 (GRCm39)	D26N	probably benign	Het
Cnot1	A	C	8: 96,452,781 (GRCm39)	D2098E	probably damaging	Het
Cnot10	A	C	9: 114,455,504 (GRCm39)	S207R	probably damaging	Het
Col14a1	A	G	15: 55,271,160 (GRCm39)	T638A	unknown	Het
Coro1a	T	C	7: 126,301,194 (GRCm39)	E102G	probably damaging	Het
Ddx27	A	C	2: 166,869,684 (GRCm39)	D373A	probably benign	Het
Defb38	A	T	8: 19,073,483 (GRCm39)	Y63*	probably null	Het
Dhx37	A	G	5: 125,498,166 (GRCm39)	V681A	probably damaging	Het
Dmxl1	T	A	18: 50,011,884 (GRCm39)	L1347H	probably damaging	Het
Dnmt3l	C	A	10: 77,899,130 (GRCm39)	L110I	probably damaging	Het
Gcn1	A	T	5: 115,736,884 (GRCm39)	M1276L	probably benign	Het
Gfus	A	G	15: 75,797,991 (GRCm39)	F223S	probably damaging	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm12790	G	A	4: 101,824,848 (GRCm39)	T140I	possibly damaging	Het
Golga3	A	T	5: 110,335,261 (GRCm39)	M192L	probably damaging	Het
H2-T22	A	T	17: 36,349,949 (GRCm39)		probably null	Het
Hectd2	C	A	19: 36,591,824 (GRCm39)	T675K	probably damaging	Het
Hinfp	T	C	9: 44,210,912 (GRCm39)	N116S	probably damaging	Het
Hoatz	A	G	9: 51,012,384 (GRCm39)	S79P	possibly damaging	Het
Hs6st3	T	A	14: 120,106,699 (GRCm39)	L369Q	probably damaging	Het
Ift74	A	G	4: 94,515,496 (GRCm39)	T138A	probably benign	Het
Ipo7	T	A	7: 109,650,325 (GRCm39)	Y792N	probably damaging	Het
Jak1	A	T	4: 101,036,872 (GRCm39)	I256N	probably damaging	Het
Kcnd2	T	A	6: 21,216,431 (GRCm39)	L45Q	probably damaging	Het
Klhl3	A	T	13: 58,166,805 (GRCm39)	V342E	probably damaging	Het
Krt28	A	C	11: 99,255,943 (GRCm39)	S439A	probably benign	Het
L3mbtl1	T	A	2: 162,801,990 (GRCm39)		probably null	Het
Lrch1	G	A	14: 75,022,971 (GRCm39)	P634L	probably damaging	Het
Lrp1	C	T	10: 127,412,362 (GRCm39)	W1314*	probably null	Het
Lrwd1	T	A	5: 136,159,332 (GRCm39)	Y431F	probably damaging	Het
Lyst	A	G	13: 13,810,286 (GRCm39)	E652G	probably damaging	Het
Mageb3	A	G	2: 121,785,033 (GRCm39)	V223A	probably damaging	Het
Map1b	G	T	13: 99,567,152 (GRCm39)	S1856R	unknown	Het
Mecom	T	A	3: 30,019,607 (GRCm39)	Q759L	probably damaging	Het
Mfsd6	T	A	1: 52,700,134 (GRCm39)	R671S	probably benign	Het
Mllt10	A	G	2: 18,167,380 (GRCm39)	N435S	probably benign	Het
Ndufab1	A	G	7: 121,700,987 (GRCm39)	L20P	probably benign	Het
Nfatc2ip	T	A	7: 125,984,280 (GRCm39)	Y371F	probably damaging	Het
Nhlrc1	A	C	13: 47,167,661 (GRCm39)	S199A	probably benign	Het
Nipa1	G	T	7: 55,635,273 (GRCm39)	N113K	possibly damaging	Het
Nlgn1	T	A	3: 26,187,414 (GRCm39)	N157I	probably damaging	Het
Nlrp1a	T	A	11: 71,005,326 (GRCm39)	K630*	probably null	Het
Nmi	T	C	2: 51,838,719 (GRCm39)	T272A	probably benign	Het
Nr1i3	T	A	1: 171,046,163 (GRCm39)	L181Q	probably damaging	Het
Nrxn1	A	T	17: 91,011,705 (GRCm39)	I308K	probably damaging	Het
Nup50l	A	T	6: 96,141,841 (GRCm39)	V401E	probably damaging	Het
Or14a256	T	C	7: 86,265,286 (GRCm39)	D189G	probably benign	Het
Or52z15	T	C	7: 103,332,519 (GRCm39)	I188T	probably damaging	Het
Or5al7	A	T	2: 85,993,073 (GRCm39)	Y73*	probably null	Het
Or8g50	T	A	9: 39,648,600 (GRCm39)	M163K	probably damaging	Het
Osgin2	G	A	4: 16,008,648 (GRCm39)	T51M	probably damaging	Het
Pkd1l2	T	A	8: 117,757,461 (GRCm39)	T1526S	possibly damaging	Het
Pkhd1l1	G	T	15: 44,432,878 (GRCm39)	A3378S	probably damaging	Het
Plg	A	T	17: 12,603,364 (GRCm39)	D90V	probably damaging	Het
Plppr3	A	T	10: 79,701,572 (GRCm39)	D423E	probably benign	Het
Prpf8	T	C	11: 75,378,547 (GRCm39)	V66A	possibly damaging	Het
Psg19	A	T	7: 18,528,180 (GRCm39)	Y188N	probably damaging	Het
Ptgs1	C	A	2: 36,127,708 (GRCm39)	S89*	probably null	Het
Ptx3	T	A	3: 66,132,187 (GRCm39)	I236N	probably damaging	Het
Pygm	A	G	19: 6,436,438 (GRCm39)	N100S	probably damaging	Het
Reps1	A	G	10: 18,000,668 (GRCm39)	E760G	probably damaging	Het
Rgs7	T	A	1: 174,918,639 (GRCm39)	N235I	probably damaging	Het
Rgsl1	T	A	1: 153,693,295 (GRCm39)	M629L	probably benign	Het
Rrh	T	C	3: 129,604,336 (GRCm39)	I288M	probably damaging	Het
Sctr	A	T	1: 119,959,312 (GRCm39)	D70V	probably damaging	Het
Sec11c	A	T	18: 65,933,720 (GRCm39)	T9S	probably benign	Het
Spty2d1	C	T	7: 46,645,933 (GRCm39)	G570D	probably damaging	Het
Stx1b	T	C	7: 127,410,077 (GRCm39)	E153G	probably damaging	Het
Synm	G	A	7: 67,383,343 (GRCm39)	R1440W	probably benign	Het
Tcof1	T	C	18: 60,965,857 (GRCm39)	E415G	possibly damaging	Het
Tgfb1i1	G	A	7: 127,851,977 (GRCm39)	R353H	probably damaging	Het
Thbs3	T	C	3: 89,126,699 (GRCm39)	F271S	probably damaging	Het
Tlr5	T	C	1: 182,803,194 (GRCm39)	W833R	probably damaging	Het
Tmem132b	A	G	5: 125,699,615 (GRCm39)	E92G	probably damaging	Het
Tmem221	T	C	8: 72,010,472 (GRCm39)	Y133C	probably damaging	Het
Tmem229b-ps	A	G	10: 53,351,552 (GRCm39)		noncoding transcript	Het
Tnxb	T	C	17: 34,891,201 (GRCm39)	C515R	probably damaging	Het
Trp53rka	T	A	2: 165,333,415 (GRCm39)	N158I	probably damaging	Het
Usp20	T	A	2: 30,906,317 (GRCm39)	C562S	probably damaging	Het
Usp31	C	T	7: 121,247,919 (GRCm39)	V1175M	probably benign	Het
Veph1	G	T	3: 65,964,610 (GRCm39)	N806K	probably benign	Het
Vmn1r223	G	T	13: 23,433,832 (GRCm39)	C142F	probably damaging	Het
Vmn2r80	A	T	10: 79,030,558 (GRCm39)	S795C	probably benign	Het
Wdr41	A	G	13: 95,151,537 (GRCm39)		probably null	Het
Zfp617	A	T	8: 72,686,009 (GRCm39)	H113L	probably benign	Het
Zfp715	T	A	7: 42,947,370 (GRCm39)	R863S	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TTTTGAGGCAGGTTTCCCC -3'
(R):5'- GCGCAGAGTCAAAAGCAATATC -3'

Sequencing Primer
(F):5'- TGAACCAAGAGCCTGCTTTG -3'
(R):5'- CTCCTTAAGGGTCTAAGTAGAAGAGC -3'

Posted On

2014-09-18