Incidental Mutation 'R7919:Mta2'
ID 648255
Institutional Source Beutler Lab
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 # R7919 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 8919239-8929659 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 8926498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 480 (R480*)
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

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000096240
AA Change: R480*
SMART Domains Protein: ENSMUSP00000093959
Gene: ENSMUSG00000071646
AA Change: R480*

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T G 3: 137,885,311 (GRCm39) K95T probably damaging Het
9430097D07Rik T C 2: 32,464,461 (GRCm39) T113A unknown Het
Abcc2 T C 19: 43,805,248 (GRCm39) Y701H probably damaging Het
Adcy2 T A 13: 69,036,091 (GRCm39) H190L probably benign Het
Arhgef15 T C 11: 68,838,431 (GRCm39) T623A probably benign Het
Armc3 A G 2: 19,290,906 (GRCm39) T462A probably benign Het
Calhm2 C T 19: 47,121,447 (GRCm39) V241M possibly damaging Het
Cdc25c T C 18: 34,868,429 (GRCm39) I314V probably damaging Het
Cntrl G A 2: 35,017,413 (GRCm39) D407N probably benign Het
Dnah5 A G 15: 28,350,742 (GRCm39) E2588G probably damaging Het
Dnm1 T A 2: 32,229,990 (GRCm39) N178Y probably damaging Het
Eaf2 T A 16: 36,630,914 (GRCm39) E86D probably damaging Het
Elf1 C A 14: 79,798,339 (GRCm39) D75E probably benign Het
Fem1c T C 18: 46,657,370 (GRCm39) T115A probably damaging Het
Garnl3 A G 2: 32,936,611 (GRCm39) V186A probably benign Het
Gatb T A 3: 85,511,828 (GRCm39) S194R probably damaging Het
Gm10775 T A 13: 65,407,913 (GRCm39) N71K unknown Het
Gm19965 T A 1: 116,749,850 (GRCm39) C510* probably null Het
Hydin A G 8: 110,993,971 (GRCm39) T2A unknown Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Jag1 G A 2: 136,930,366 (GRCm39) T726M probably damaging Het
Kank1 A G 19: 25,408,439 (GRCm39) D1306G probably damaging Het
Krt26 T A 11: 99,224,420 (GRCm39) E366V probably damaging Het
Ksr2 A G 5: 117,899,418 (GRCm39) E872G possibly damaging Het
Med6 G A 12: 81,620,621 (GRCm39) R242* probably null Het
Meis2 A G 2: 115,697,788 (GRCm39) V370A probably benign Het
Mup3 A T 4: 62,002,829 (GRCm39) N177K probably damaging Het
Myo15a T A 11: 60,417,356 (GRCm39) V3435E probably damaging Het
Ncapg A G 5: 45,853,390 (GRCm39) T880A probably benign Het
Obox1 A T 7: 15,290,256 (GRCm39) K200* probably null Het
Or8j3 A T 2: 86,028,609 (GRCm39) C162* probably null Het
Ovgp1 T A 3: 105,888,601 (GRCm39) V319D probably damaging Het
Plxdc2 A T 2: 16,553,036 (GRCm39) I145F probably damaging Het
Prr30 T C 14: 101,436,547 (GRCm39) N5S possibly damaging Het
Ptcd3 T C 6: 71,880,438 (GRCm39) Y95C probably damaging Het
Rsl1d1 A G 16: 11,020,297 (GRCm39) S44P probably benign Het
Sh3gl2 A G 4: 85,273,595 (GRCm39) E49G probably benign Het
Shroom1 A G 11: 53,354,220 (GRCm39) T47A probably benign Het
Slc20a1 G A 2: 129,049,757 (GRCm39) D340N probably benign Het
Stx1b A G 7: 127,406,507 (GRCm39) S281P probably benign Het
Tg A T 15: 66,555,923 (GRCm39) I872F possibly damaging Het
Ubqln3 C T 7: 103,790,399 (GRCm39) A564T probably benign Het
Vsnl1 T C 12: 11,382,087 (GRCm39) E98G possibly damaging Het
Vwf T C 6: 125,624,822 (GRCm39) L1857P Het
Wars1 C T 12: 108,847,030 (GRCm39) E125K probably benign Het
Wnt16 G A 6: 22,291,049 (GRCm39) S159N probably benign Het
Zcchc14 A G 8: 122,330,912 (GRCm39) F817S probably damaging Het
Zup1 A G 10: 33,825,108 (GRCm39) S125P possibly damaging Het
Other mutations in Mta2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ACTCAAGAGGTCATTTATCCAGACC -3'
(R):5'- CCCTGGGTACTCTGCAGTTTTG -3'

Sequencing Primer
(F):5'- GAGGTCATTTATCCAGACCTGAAGC -3'
(R):5'- ATGGTCCTACTGTGAAGTACCAGC -3'
Posted On 2020-09-15