Incidental Mutation 'R7992:Mta2'
ID 651839
Institutional Source Beutler Lab
Gene Symbol Mta2
Ensembl Gene ENSMUSG00000071646
Gene Name metastasis-associated gene family, member 2
Synonyms mmta2, Mta1l1
MMRRC Submission 046033-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7992 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 8919239-8929659 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 8925151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000093959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096240]
AlphaFold Q9R190
Predicted Effect probably null
Transcript: ENSMUST00000096240
SMART Domains Protein: ENSMUSP00000093959
Gene: ENSMUSG00000071646

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: 99.5%
  • 20x: 98.4%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 A G 15: 11,310,904 (GRCm39) T1054A probably benign Het
Ankfn1 A C 11: 89,413,859 (GRCm39) I172S probably benign Het
Ano3 T C 2: 110,605,367 (GRCm39) T280A possibly damaging Het
Arhgef37 T A 18: 61,638,827 (GRCm39) E307D probably benign Het
Bptf C T 11: 107,001,709 (GRCm39) V468I probably benign Het
Ces1b A G 8: 93,786,987 (GRCm39) V464A probably benign Het
Cmc2 A T 8: 117,616,446 (GRCm39) L93* probably null Het
Ddx60 A G 8: 62,407,569 (GRCm39) D360G probably benign Het
Dock6 C T 9: 21,744,135 (GRCm39) probably null Het
Erp44 A G 4: 48,218,136 (GRCm39) F178L possibly damaging Het
Fam47e T C 5: 92,722,541 (GRCm39) V79A probably damaging Het
Fancd2 T C 6: 113,542,165 (GRCm39) S770P probably damaging Het
Fcgr1 A G 3: 96,191,897 (GRCm39) F304L probably benign Het
Fkbp15 T C 4: 62,230,538 (GRCm39) E725G probably damaging Het
Fn1 T C 1: 71,638,825 (GRCm39) I1971V probably benign Het
Gdf6 A G 4: 9,844,652 (GRCm39) S59G probably benign Het
Gm5773 T A 3: 93,680,373 (GRCm39) I15N possibly damaging Het
Hesx1 T C 14: 26,723,379 (GRCm39) S70P probably benign Het
Htr5a T C 5: 28,055,995 (GRCm39) S329P probably damaging Het
Htt T C 5: 34,987,225 (GRCm39) probably null Het
Iba57 T A 11: 59,052,288 (GRCm39) M118L unknown Het
Ifi35 C T 11: 101,348,307 (GRCm39) Q112* probably null Het
Il12rb1 G T 8: 71,265,233 (GRCm39) R183L possibly damaging Het
Il12rb2 A T 6: 67,328,311 (GRCm39) Y306* probably null Het
Ints1 C G 5: 139,742,282 (GRCm39) D1722H probably damaging Het
Ipp T G 4: 116,381,453 (GRCm39) D317E probably damaging Het
Kif26a A G 12: 112,142,481 (GRCm39) T912A probably benign Het
Klhdc7a A G 4: 139,693,045 (GRCm39) V634A probably damaging Het
Klhl40 C A 9: 121,607,748 (GRCm39) P303T probably damaging Het
Krt13 T C 11: 100,008,478 (GRCm39) T420A unknown Het
Lpcat2 T C 8: 93,582,186 (GRCm39) F35S probably damaging Het
Macf1 A G 4: 123,289,753 (GRCm39) V5470A probably damaging Het
Muc16 G T 9: 18,567,725 (GRCm39) T1598K unknown Het
Nckap5 A T 1: 125,954,547 (GRCm39) N668K probably damaging Het
Nlrp4a A T 7: 26,150,070 (GRCm39) D559V possibly damaging Het
Npat T C 9: 53,474,167 (GRCm39) L653P probably benign Het
Oog1 G A 12: 87,655,252 (GRCm39) V467I possibly damaging Het
Or4c15b A G 2: 89,113,082 (GRCm39) S132P probably benign Het
Or4f56 C T 2: 111,703,280 (GRCm39) A307T probably benign Het
Pdzph1 T A 17: 59,186,105 (GRCm39) M1229L possibly damaging Het
Piwil4 T A 9: 14,614,445 (GRCm39) Q106L Het
Plekha5 C A 6: 140,472,267 (GRCm39) R65S probably damaging Het
Ptger4 T C 15: 5,264,381 (GRCm39) Y425C probably damaging Het
Pus7 A G 5: 23,951,465 (GRCm39) M534T possibly damaging Het
Rtkn2 C T 10: 67,875,923 (GRCm39) P411S probably damaging Het
Scand1 G A 2: 156,154,232 (GRCm39) P13S unknown Het
Scaper T C 9: 55,765,438 (GRCm39) H550R probably benign Het
Senp5 T A 16: 31,796,514 (GRCm39) K617I probably damaging Het
Shq1 A G 6: 100,613,972 (GRCm39) L282P probably damaging Het
Slc12a6 T A 2: 112,166,256 (GRCm39) C227S probably damaging Het
Slc5a9 T A 4: 111,747,729 (GRCm39) T284S probably benign Het
Stat2 T A 10: 128,120,831 (GRCm39) F579L probably damaging Het
Tes G T 6: 17,096,242 (GRCm39) A77S possibly damaging Het
Themis A T 10: 28,637,342 (GRCm39) T149S probably benign Het
Tmprss6 C T 15: 78,326,664 (GRCm39) R653H probably benign Het
Trmt6 G A 2: 132,652,959 (GRCm39) L107F probably damaging Het
Trpm6 T C 19: 18,792,714 (GRCm39) C713R probably damaging Het
Trpm7 T C 2: 126,667,454 (GRCm39) I820V probably benign Het
Usp45 G A 4: 21,824,543 (GRCm39) A432T probably benign Het
Xab2 A T 8: 3,668,622 (GRCm39) V82E possibly damaging Het
Zfp938 T A 10: 82,061,777 (GRCm39) Y281F 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
R7919:Mta2 UTSW 19 8,926,498 (GRCm39) nonsense 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'- AGACCGGTATATTCAGCAGGTATG -3'
(R):5'- AAACAACCCACTTGTGTCTCTC -3'

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