Incidental Mutation 'R4231:Mta1'
ID 368331
Institutional Source Beutler Lab
Gene Symbol Mta1
Ensembl Gene ENSMUSG00000021144
Gene Name metastasis associated 1
Synonyms
MMRRC Submission 041050-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4231 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 113061898-113100826 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113099447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 603 (M603T)
Ref Sequence ENSEMBL: ENSMUSP00000105349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009099] [ENSMUST00000069690] [ENSMUST00000084882] [ENSMUST00000109723] [ENSMUST00000109726] [ENSMUST00000109727] [ENSMUST00000200380]
AlphaFold Q8K4B0
Predicted Effect probably benign
Transcript: ENSMUST00000009099
AA Change: M615T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000009099
Gene: ENSMUSG00000021144
AA Change: M615T

DomainStartEndE-ValueType
BAH 4 164 1.85e-30 SMART
ELM2 167 221 2.36e-13 SMART
SANT 284 333 2.62e-8 SMART
ZnF_GATA 387 441 2.6e-16 SMART
low complexity region 545 565 N/A INTRINSIC
low complexity region 695 705 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000069690
AA Change: M598T

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000064338
Gene: ENSMUSG00000021144
AA Change: M598T

DomainStartEndE-ValueType
BAH 4 147 2.7e-32 SMART
ELM2 150 204 2.36e-13 SMART
SANT 267 316 2.62e-8 SMART
ZnF_GATA 370 424 2.6e-16 SMART
low complexity region 528 548 N/A INTRINSIC
low complexity region 678 688 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000084882
SMART Domains Protein: ENSMUSP00000081943
Gene: ENSMUSG00000006356

DomainStartEndE-ValueType
LIM 4 56 2.08e-12 SMART
low complexity region 104 115 N/A INTRINSIC
LIM 125 177 6.05e-14 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000109723
AA Change: M603T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105345
Gene: ENSMUSG00000021144
AA Change: M603T

DomainStartEndE-ValueType
BAH 4 164 1.85e-30 SMART
ELM2 167 221 2.36e-13 SMART
SANT 284 333 2.62e-8 SMART
ZnF_GATA 387 441 2.6e-16 SMART
low complexity region 545 565 N/A INTRINSIC
low complexity region 683 693 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109726
AA Change: M598T

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000105348
Gene: ENSMUSG00000021144
AA Change: M598T

DomainStartEndE-ValueType
BAH 4 147 2.7e-32 SMART
ELM2 150 204 2.36e-13 SMART
SANT 267 316 2.62e-8 SMART
ZnF_GATA 370 424 2.6e-16 SMART
low complexity region 528 548 N/A INTRINSIC
low complexity region 678 688 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000109727
AA Change: M603T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105349
Gene: ENSMUSG00000021144
AA Change: M603T

DomainStartEndE-ValueType
BAH 4 164 1.85e-30 SMART
ELM2 167 221 2.36e-13 SMART
SANT 284 333 2.62e-8 SMART
ZnF_GATA 387 441 2.6e-16 SMART
low complexity region 545 565 N/A INTRINSIC
low complexity region 683 693 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130926
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156030
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134488
Predicted Effect probably benign
Transcript: ENSMUST00000200380
SMART Domains Protein: ENSMUSP00000143334
Gene: ENSMUSG00000006356

DomainStartEndE-ValueType
LIM 1 53 3e-16 SMART
Meta Mutation Damage Score 0.0598 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 99% (75/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that was identified in a screen for genes expressed in metastatic cells, specifically, mammary adenocarcinoma cell lines. Expression of this gene has been correlated with the metastatic potential of at least two types of carcinomas although it is also expressed in many normal tissues. The role it plays in metastasis is unclear. It was initially thought to be the 70kD component of a nucleosome remodeling deacetylase complex, NuRD, but it is more likely that this component is a different but very similar protein. These two proteins are so closely related, though, 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. The profile and activity of this gene product suggest that it is involved in regulating transcription and that this may be accomplished by chromatin remodeling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased cellular sensitivity to ionizing radiation and increased retinal cell proliferation at E14.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 A T 12: 53,187,821 (GRCm39) D1745V probably damaging Het
Aldh5a1 C T 13: 25,095,636 (GRCm39) G494R probably damaging Het
Ankar T C 1: 72,697,701 (GRCm39) D1034G probably benign Het
Aox3 T A 1: 58,154,044 (GRCm39) N23K probably benign Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Bltp1 C T 3: 36,974,385 (GRCm39) T663I probably benign Het
Cacnb2 A G 2: 14,986,251 (GRCm39) K343E probably damaging Het
Casp8 T C 1: 58,883,929 (GRCm39) V432A probably damaging Het
Cd93 A T 2: 148,284,880 (GRCm39) H155Q probably benign Het
Cox6b2 T C 7: 4,755,834 (GRCm39) M1V probably null Het
Crat T C 2: 30,303,023 (GRCm39) E88G possibly damaging Het
Ddx1 C T 12: 13,273,858 (GRCm39) V590I possibly damaging Het
Dip2a G A 10: 76,155,304 (GRCm39) P94S probably damaging Het
Dtx3 A G 10: 127,029,058 (GRCm39) I60T possibly damaging Het
Filip1l T C 16: 57,327,131 (GRCm39) S54P probably benign Het
Gm12887 A T 4: 121,479,299 (GRCm39) M1K probably null Het
Gm26678 T C 3: 54,540,504 (GRCm39) noncoding transcript Het
Impg1 A G 9: 80,252,611 (GRCm39) L523P probably damaging Het
Insyn2b A T 11: 34,353,143 (GRCm39) E395V probably benign Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Irak2 A G 6: 113,667,817 (GRCm39) E466G probably damaging Het
Irgm2 C T 11: 58,110,304 (GRCm39) probably benign Het
Jak3 T A 8: 72,138,189 (GRCm39) V880D probably damaging Het
Jmy G T 13: 93,635,433 (GRCm39) P128T probably benign Het
Kif20a A G 18: 34,765,091 (GRCm39) N775S probably benign Het
Kremen1 G A 11: 5,193,881 (GRCm39) Q50* probably null Het
Lrrc71 A G 3: 87,648,298 (GRCm39) I438T probably benign Het
Map3k1 T C 13: 111,905,028 (GRCm39) T374A probably benign Het
Med12l T G 3: 59,164,644 (GRCm39) probably null Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Myo5a A G 9: 75,097,279 (GRCm39) N1319S possibly damaging Het
Nalcn T A 14: 123,837,325 (GRCm39) Q13L probably benign Het
Nbas A G 12: 13,443,344 (GRCm39) N1133S probably damaging Het
Nsun2 A G 13: 69,767,660 (GRCm39) N205D probably damaging Het
Nxpe4 A T 9: 48,310,137 (GRCm39) T467S probably damaging Het
Or13a20 T C 7: 140,232,653 (GRCm39) Y254H probably damaging Het
Or4f17-ps1 C T 2: 111,358,546 (GRCm39) R314C probably damaging Het
Or7g30 T A 9: 19,352,886 (GRCm39) L226I probably damaging Het
Pam A G 1: 97,811,849 (GRCm39) probably null Het
Pcdh7 G A 5: 57,876,631 (GRCm39) G62D possibly damaging Het
Plxna2 C T 1: 194,326,762 (GRCm39) T232I probably damaging Het
Prkar1b A G 5: 139,094,376 (GRCm39) S71P probably benign Het
Ptprq A T 10: 107,522,144 (GRCm39) Y602* probably null Het
Rfx4 A T 10: 84,650,558 (GRCm39) M84L probably benign Het
Rfx7 A T 9: 72,526,672 (GRCm39) E1287D possibly damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf216 A T 5: 143,078,845 (GRCm39) S35T probably damaging Het
Rps6kc1 A G 1: 190,541,097 (GRCm39) V402A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sart3 A G 5: 113,909,479 (GRCm39) M73T probably benign Het
Scn10a G T 9: 119,460,610 (GRCm39) T1088K probably damaging Het
Senp2 T C 16: 21,830,304 (GRCm39) probably null Het
Setd7 T C 3: 51,450,151 (GRCm39) N92D probably benign Het
Sipa1 A T 19: 5,704,117 (GRCm39) L735Q probably damaging Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Slitrk6 A T 14: 110,988,820 (GRCm39) S296T probably benign Het
Spc24 T C 9: 21,667,498 (GRCm39) probably null Het
Tex15 T C 8: 34,062,165 (GRCm39) S806P probably damaging Het
Tgm3 A T 2: 129,886,509 (GRCm39) K577* probably null Het
Wscd2 A G 5: 113,699,045 (GRCm39) D200G probably benign Het
Xpo6 T C 7: 125,773,354 (GRCm39) T24A possibly damaging Het
Zfhx2 A G 14: 55,310,991 (GRCm39) C568R possibly damaging Het
Zfp599 T A 9: 22,161,041 (GRCm39) K375* probably null Het
Other mutations in Mta1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02227:Mta1 APN 12 113,084,528 (GRCm39) missense possibly damaging 0.94
IGL02250:Mta1 APN 12 113,090,418 (GRCm39) missense possibly damaging 0.59
IGL02391:Mta1 APN 12 113,100,203 (GRCm39) missense possibly damaging 0.79
IGL02670:Mta1 APN 12 113,093,741 (GRCm39) missense probably damaging 1.00
PIT4382001:Mta1 UTSW 12 113,096,870 (GRCm39) missense probably benign 0.06
R0361:Mta1 UTSW 12 113,096,961 (GRCm39) splice site probably null
R0496:Mta1 UTSW 12 113,094,941 (GRCm39) nonsense probably null
R1774:Mta1 UTSW 12 113,091,659 (GRCm39) missense probably damaging 1.00
R1870:Mta1 UTSW 12 113,091,694 (GRCm39) missense possibly damaging 0.73
R1976:Mta1 UTSW 12 113,099,926 (GRCm39) missense probably damaging 0.97
R2110:Mta1 UTSW 12 113,095,248 (GRCm39) missense probably damaging 1.00
R2111:Mta1 UTSW 12 113,095,248 (GRCm39) missense probably damaging 1.00
R2184:Mta1 UTSW 12 113,093,815 (GRCm39) critical splice donor site probably null
R2274:Mta1 UTSW 12 113,091,770 (GRCm39) missense probably damaging 1.00
R4087:Mta1 UTSW 12 113,075,802 (GRCm39) missense probably damaging 1.00
R4916:Mta1 UTSW 12 113,100,160 (GRCm39) missense probably benign 0.17
R5032:Mta1 UTSW 12 113,097,145 (GRCm39) splice site probably null
R5271:Mta1 UTSW 12 113,095,577 (GRCm39) missense probably damaging 0.99
R5344:Mta1 UTSW 12 113,095,186 (GRCm39) splice site probably benign
R5392:Mta1 UTSW 12 113,096,856 (GRCm39) missense probably benign
R5656:Mta1 UTSW 12 113,086,759 (GRCm39) missense probably damaging 1.00
R5903:Mta1 UTSW 12 113,100,239 (GRCm39) missense probably damaging 1.00
R6168:Mta1 UTSW 12 113,086,739 (GRCm39) missense probably damaging 0.96
R7091:Mta1 UTSW 12 113,100,022 (GRCm39) missense probably damaging 1.00
R7334:Mta1 UTSW 12 113,090,418 (GRCm39) missense possibly damaging 0.59
R7408:Mta1 UTSW 12 113,095,088 (GRCm39) critical splice donor site probably null
R7889:Mta1 UTSW 12 113,095,308 (GRCm39) missense probably benign 0.02
R8136:Mta1 UTSW 12 113,095,298 (GRCm39) missense probably damaging 1.00
R8176:Mta1 UTSW 12 113,084,456 (GRCm39) missense probably benign 0.00
R8385:Mta1 UTSW 12 113,095,085 (GRCm39) missense probably benign
R8398:Mta1 UTSW 12 113,095,242 (GRCm39) missense possibly damaging 0.83
R9132:Mta1 UTSW 12 113,100,025 (GRCm39) missense probably damaging 1.00
R9159:Mta1 UTSW 12 113,100,025 (GRCm39) missense probably damaging 1.00
R9418:Mta1 UTSW 12 113,094,987 (GRCm39) missense probably damaging 1.00
R9489:Mta1 UTSW 12 113,095,085 (GRCm39) missense probably benign
R9596:Mta1 UTSW 12 113,090,470 (GRCm39) missense probably damaging 0.99
R9682:Mta1 UTSW 12 113,095,384 (GRCm39) critical splice donor site probably null
Z1088:Mta1 UTSW 12 113,096,820 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- TGAGGACATCTTACAGGCAGG -3'
(R):5'- AACACCTTGAGGGATGTGTG -3'

Sequencing Primer
(F):5'- ATCTTACAGGCAGGCCCCTTG -3'
(R):5'- CCTTGAGGGATGTGTGCGAAC -3'
Posted On 2016-01-28