Incidental Mutation 'IGL00916:Mta2'
ID 29499
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 # IGL00916
Quality Score
Status
Chromosome 19
Chromosomal Location 8919239-8929659 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 8924465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 220 (M220L)
Ref Sequence ENSEMBL: ENSMUSP00000093959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096240]
AlphaFold Q9R190
Predicted Effect probably benign
Transcript: ENSMUST00000096240
AA Change: M220L

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000093959
Gene: ENSMUSG00000071646
AA Change: M220L

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,075,851 (GRCm39) Q762L probably benign Het
Aldh1a1 T C 19: 20,597,361 (GRCm39) V114A probably benign Het
Ano4 T C 10: 88,833,960 (GRCm39) I459V probably benign Het
Atad5 C T 11: 80,009,826 (GRCm39) P1199S probably damaging Het
Bmp10 T C 6: 87,406,142 (GRCm39) F43S possibly damaging Het
Cd96 T C 16: 45,861,675 (GRCm39) E505G probably benign Het
Eapp T C 12: 54,739,593 (GRCm39) T75A possibly damaging Het
Emilin1 T C 5: 31,071,246 (GRCm39) Y10H probably damaging Het
Ercc6 A G 14: 32,284,612 (GRCm39) probably benign Het
Gucy2e T C 11: 69,113,923 (GRCm39) I1089V possibly damaging Het
H6pd C A 4: 150,078,925 (GRCm39) probably null Het
Igsf10 A T 3: 59,238,548 (GRCm39) F544L probably damaging Het
Il23r T C 6: 67,450,915 (GRCm39) Y188C probably damaging Het
Ilrun A G 17: 27,986,893 (GRCm39) Y278H probably damaging Het
Inpp5j T C 11: 3,452,389 (GRCm39) E287G probably damaging Het
Lrp6 T C 6: 134,461,252 (GRCm39) D735G probably damaging Het
Mast2 A T 4: 116,184,830 (GRCm39) M240K possibly damaging Het
Mreg T A 1: 72,203,291 (GRCm39) T96S probably benign Het
Mycbp2 A G 14: 103,528,719 (GRCm39) probably benign Het
Naip2 T A 13: 100,297,939 (GRCm39) N699I probably damaging Het
Ncapg T G 5: 45,828,534 (GRCm39) I95S probably benign Het
Ndufa13 A G 8: 70,347,069 (GRCm39) probably benign Het
Nol10 T A 12: 17,411,130 (GRCm39) probably benign Het
Parp8 T A 13: 117,063,859 (GRCm39) I85F probably damaging Het
Rgs2 T A 1: 143,877,967 (GRCm39) I78F probably damaging Het
Rpia C T 6: 70,752,086 (GRCm39) probably benign Het
Sec63 T C 10: 42,688,453 (GRCm39) S488P possibly damaging Het
Tfcp2 T G 15: 100,418,559 (GRCm39) H201P probably damaging Het
Tnfaip2 T G 12: 111,419,983 (GRCm39) I705R probably damaging Het
Ttf1 A G 2: 28,960,054 (GRCm39) N554S probably benign Het
Ulk1 A G 5: 110,940,877 (GRCm39) S351P probably damaging Het
Zp2 T A 7: 119,737,397 (GRCm39) N264Y probably damaging Het
Other mutations in Mta2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-04-17