Incidental Mutation 'R1487:Mecom'
ID 163506
Institutional Source Beutler Lab
Gene Symbol Mecom
Ensembl Gene ENSMUSG00000027684
Gene Name MDS1 and EVI1 complex locus
Synonyms Mds1, Jbo, Prdm3, MDS1-EVI1, Evi-1, D630039M04Rik, Evi1, ZNFPR1B1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1487 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 30005445-30563937 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30034213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 488 (T488A)
Ref Sequence ENSEMBL: ENSMUSP00000134626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108270] [ENSMUST00000108271] [ENSMUST00000166001] [ENSMUST00000172694] [ENSMUST00000172697] [ENSMUST00000172754] [ENSMUST00000173495] [ENSMUST00000173899]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000108270
AA Change: T488A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103905
Gene: ENSMUSG00000027684
AA Change: T488A

DomainStartEndE-ValueType
ZnF_C2H2 21 41 1.86e1 SMART
ZnF_C2H2 75 97 4.47e-3 SMART
ZnF_C2H2 103 125 1.6e-4 SMART
ZnF_C2H2 131 154 1.13e-4 SMART
ZnF_C2H2 160 182 1.2e-3 SMART
ZnF_C2H2 188 210 8.22e-2 SMART
ZnF_C2H2 217 244 9.96e0 SMART
low complexity region 297 311 N/A INTRINSIC
low complexity region 411 423 N/A INTRINSIC
ZnF_C2H2 724 746 5.29e-5 SMART
ZnF_C2H2 752 775 1.6e-4 SMART
ZnF_C2H2 781 803 5.9e-3 SMART
low complexity region 877 896 N/A INTRINSIC
low complexity region 1025 1040 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108271
SMART Domains Protein: ENSMUSP00000103906
Gene: ENSMUSG00000027684

DomainStartEndE-ValueType
Blast:SET 9 85 3e-44 BLAST
PDB:2JV0|A 25 96 2e-12 PDB
ZnF_C2H2 98 118 1.86e1 SMART
ZnF_C2H2 152 174 4.47e-3 SMART
ZnF_C2H2 180 202 1.6e-4 SMART
ZnF_C2H2 208 231 1.13e-4 SMART
ZnF_C2H2 237 259 1.2e-3 SMART
ZnF_C2H2 477 499 5.29e-5 SMART
ZnF_C2H2 505 528 1.6e-4 SMART
ZnF_C2H2 534 556 5.9e-3 SMART
low complexity region 630 649 N/A INTRINSIC
low complexity region 778 793 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166001
AA Change: T488A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128563
Gene: ENSMUSG00000027684
AA Change: T488A

DomainStartEndE-ValueType
ZnF_C2H2 21 41 1.86e1 SMART
ZnF_C2H2 75 97 4.47e-3 SMART
ZnF_C2H2 103 125 1.6e-4 SMART
ZnF_C2H2 131 154 1.13e-4 SMART
ZnF_C2H2 160 182 1.2e-3 SMART
ZnF_C2H2 188 210 8.22e-2 SMART
ZnF_C2H2 217 244 9.96e0 SMART
low complexity region 297 311 N/A INTRINSIC
low complexity region 411 423 N/A INTRINSIC
ZnF_C2H2 733 755 5.29e-5 SMART
ZnF_C2H2 761 784 1.6e-4 SMART
ZnF_C2H2 790 812 5.9e-3 SMART
low complexity region 886 905 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170212
Predicted Effect probably benign
Transcript: ENSMUST00000172694
SMART Domains Protein: ENSMUSP00000134303
Gene: ENSMUSG00000027684

DomainStartEndE-ValueType
ZnF_C2H2 21 41 1.86e1 SMART
ZnF_C2H2 75 97 4.47e-3 SMART
ZnF_C2H2 103 125 1.6e-4 SMART
ZnF_C2H2 131 154 1.13e-4 SMART
ZnF_C2H2 160 182 1.2e-3 SMART
ZnF_C2H2 400 422 5.29e-5 SMART
ZnF_C2H2 428 451 1.6e-4 SMART
ZnF_C2H2 457 479 5.9e-3 SMART
low complexity region 553 572 N/A INTRINSIC
low complexity region 701 716 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000172697
AA Change: T678A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134117
Gene: ENSMUSG00000027684
AA Change: T678A

DomainStartEndE-ValueType
SET 80 198 5.46e-15 SMART
ZnF_C2H2 211 231 1.86e1 SMART
ZnF_C2H2 265 287 4.47e-3 SMART
ZnF_C2H2 293 315 1.6e-4 SMART
ZnF_C2H2 321 344 1.13e-4 SMART
ZnF_C2H2 350 372 1.2e-3 SMART
ZnF_C2H2 378 400 8.22e-2 SMART
ZnF_C2H2 407 434 9.96e0 SMART
low complexity region 487 501 N/A INTRINSIC
low complexity region 601 613 N/A INTRINSIC
ZnF_C2H2 923 945 5.29e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172754
Predicted Effect probably damaging
Transcript: ENSMUST00000173495
AA Change: T488A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134626
Gene: ENSMUSG00000027684
AA Change: T488A

DomainStartEndE-ValueType
ZnF_C2H2 21 41 8e-2 SMART
ZnF_C2H2 75 97 1.9e-5 SMART
ZnF_C2H2 103 125 7e-7 SMART
ZnF_C2H2 131 154 4.8e-7 SMART
ZnF_C2H2 160 182 5e-6 SMART
ZnF_C2H2 188 210 3.5e-4 SMART
ZnF_C2H2 217 244 4.3e-2 SMART
low complexity region 297 311 N/A INTRINSIC
low complexity region 411 423 N/A INTRINSIC
ZnF_C2H2 733 755 2.2e-7 SMART
ZnF_C2H2 761 784 7.1e-7 SMART
ZnF_C2H2 790 812 2.5e-5 SMART
low complexity region 886 905 N/A INTRINSIC
low complexity region 1034 1049 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000173899
AA Change: T678A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133410
Gene: ENSMUSG00000027684
AA Change: T678A

DomainStartEndE-ValueType
SET 80 198 5.46e-15 SMART
ZnF_C2H2 211 231 1.86e1 SMART
ZnF_C2H2 265 287 4.47e-3 SMART
ZnF_C2H2 293 315 1.6e-4 SMART
ZnF_C2H2 321 344 1.13e-4 SMART
ZnF_C2H2 350 372 1.2e-3 SMART
ZnF_C2H2 378 400 8.22e-2 SMART
ZnF_C2H2 407 434 9.96e0 SMART
low complexity region 487 501 N/A INTRINSIC
low complexity region 601 613 N/A INTRINSIC
ZnF_C2H2 914 936 5.29e-5 SMART
ZnF_C2H2 942 965 1.6e-4 SMART
ZnF_C2H2 971 993 5.9e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174428
Predicted Effect probably benign
Transcript: ENSMUST00000173059
SMART Domains Protein: ENSMUSP00000133310
Gene: ENSMUSG00000027684

DomainStartEndE-ValueType
SET 15 133 5.46e-15 SMART
ZnF_C2H2 146 166 1.86e1 SMART
ZnF_C2H2 200 222 4.47e-3 SMART
ZnF_C2H2 228 250 1.6e-4 SMART
ZnF_C2H2 256 279 1.13e-4 SMART
ZnF_C2H2 285 307 1.2e-3 SMART
ZnF_C2H2 525 547 5.29e-5 SMART
ZnF_C2H2 553 576 1.6e-4 SMART
ZnF_C2H2 582 604 5.9e-3 SMART
low complexity region 678 697 N/A INTRINSIC
low complexity region 826 841 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174413
SMART Domains Protein: ENSMUSP00000134278
Gene: ENSMUSG00000027684

DomainStartEndE-ValueType
ZnF_C2H2 11 31 1.86e1 SMART
ZnF_C2H2 65 87 4.47e-3 SMART
ZnF_C2H2 93 115 1.6e-4 SMART
ZnF_C2H2 121 144 1.13e-4 SMART
ZnF_C2H2 150 172 1.2e-3 SMART
ZnF_C2H2 390 412 5.29e-5 SMART
ZnF_C2H2 418 441 1.6e-4 SMART
ZnF_C2H2 447 469 5.9e-3 SMART
low complexity region 543 562 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Embryos homozygous for a targeted null mutation die at 10.5 dpc displaying widespread hypocellularity, hemorrhage, and disruption in the development of the heart, somites, and neural crest-derived cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik A C 6: 146,854,877 (GRCm39) V55G probably benign Het
Abhd13 A G 8: 10,037,402 (GRCm39) probably benign Het
Arid5b T A 10: 67,933,044 (GRCm39) K953* probably null Het
Armh3 A C 19: 45,928,882 (GRCm39) probably null Het
B4galt6 A G 18: 20,839,571 (GRCm39) V121A possibly damaging Het
C1qtnf12 G A 4: 156,050,331 (GRCm39) E223K probably damaging Het
Calu A G 6: 29,366,955 (GRCm39) I208V probably benign Het
Cd14 T C 18: 36,858,537 (GRCm39) N306S probably benign Het
Cdc16 T A 8: 13,821,445 (GRCm39) N415K probably benign Het
Cfap57 C A 4: 118,471,978 (GRCm39) V134F probably benign Het
Chrna2 C T 14: 66,380,812 (GRCm39) A27V probably benign Het
Chtf18 T C 17: 25,939,583 (GRCm39) K67R probably benign Het
Clock T C 5: 76,414,201 (GRCm39) probably null Het
Cplane1 C T 15: 8,215,715 (GRCm39) R424W probably damaging Het
Eif4g1 G A 16: 20,497,623 (GRCm39) probably benign Het
Eps8l2 A T 7: 140,941,531 (GRCm39) M601L probably benign Het
Fat4 A G 3: 39,050,066 (GRCm39) E3976G possibly damaging Het
Flrt3 T A 2: 140,502,854 (GRCm39) H258L probably damaging Het
Flt4 C A 11: 49,523,971 (GRCm39) T517K possibly damaging Het
Galnt7 T C 8: 57,993,073 (GRCm39) N416S probably damaging Het
Gipc1 C T 8: 84,387,808 (GRCm39) Q63* probably null Het
Gm17079 A T 14: 51,930,542 (GRCm39) probably null Het
Gucy2c T A 6: 136,725,824 (GRCm39) I375F possibly damaging Het
Hps4 C T 5: 112,525,865 (GRCm39) Q629* probably null Het
Hunk A G 16: 90,183,525 (GRCm39) Y61C probably damaging Het
Itga6 T C 2: 71,673,584 (GRCm39) S873P possibly damaging Het
Kcnc1 A G 7: 46,047,298 (GRCm39) H66R possibly damaging Het
Kcnc1 T C 7: 46,084,772 (GRCm39) probably null Het
Khdc3 A G 9: 73,009,846 (GRCm39) T19A probably benign Het
Kmt2a T C 9: 44,745,287 (GRCm39) probably benign Het
Lipe C T 7: 25,084,240 (GRCm39) A615T possibly damaging Het
Lrguk A T 6: 34,039,295 (GRCm39) M269L probably benign Het
Lrrc18 A G 14: 32,730,640 (GRCm39) N60D probably damaging Het
Magi1 T C 6: 93,685,060 (GRCm39) T773A probably benign Het
Map3k14 T A 11: 103,116,163 (GRCm39) D755V possibly damaging Het
Mmp10 T G 9: 7,509,978 (GRCm39) W473G probably damaging Het
Mrgpra2a C T 7: 47,076,434 (GRCm39) V275I probably benign Het
Myo7a A C 7: 97,703,017 (GRCm39) probably null Het
Nadsyn1 C T 7: 143,360,662 (GRCm39) V369I probably benign Het
Nptxr C A 15: 79,674,104 (GRCm39) G424V probably damaging Het
Nrg2 C T 18: 36,185,965 (GRCm39) G258E possibly damaging Het
Nup210 G A 6: 91,019,558 (GRCm39) P221S probably damaging Het
Odad2 A T 18: 7,273,245 (GRCm39) Y282N probably damaging Het
Or52a33 T A 7: 103,288,801 (GRCm39) H182L probably damaging Het
Or6c208 T C 10: 129,224,209 (GRCm39) F236L probably benign Het
Oxct1 A G 15: 4,177,057 (GRCm39) D477G possibly damaging Het
Pcdh8 G T 14: 80,006,987 (GRCm39) D525E probably damaging Het
Phldb2 A G 16: 45,609,387 (GRCm39) S740P probably damaging Het
Prss54 A G 8: 96,286,276 (GRCm39) S266P probably benign Het
Ptprh T A 7: 4,555,737 (GRCm39) I741F probably damaging Het
Rab11fip1 G T 8: 27,644,240 (GRCm39) S515Y probably damaging Het
Recql4 T A 15: 76,593,183 (GRCm39) N309I probably benign Het
Sec24a T C 11: 51,622,713 (GRCm39) T388A possibly damaging Het
Setd6 T A 8: 96,444,556 (GRCm39) L83H probably damaging Het
Slc6a12 G A 6: 121,340,716 (GRCm39) W534* probably null Het
St14 C T 9: 31,008,476 (GRCm39) C488Y probably damaging Het
Supt16 A G 14: 52,414,065 (GRCm39) probably null Het
Tanc2 A G 11: 105,814,460 (GRCm39) Y1968C probably damaging Het
Tcaim T A 9: 122,647,897 (GRCm39) Y137* probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpm3 A T 3: 89,997,389 (GRCm39) probably null Het
Trip12 A T 1: 84,746,352 (GRCm39) N475K probably damaging Het
Twnk G T 19: 44,996,815 (GRCm39) probably null Het
Zfp287 T C 11: 62,616,115 (GRCm39) K192R probably damaging Het
Zfp799 G T 17: 33,039,651 (GRCm39) T204N possibly damaging Het
Other mutations in Mecom
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01978:Mecom APN 3 30,017,315 (GRCm39) missense probably damaging 0.99
IGL02800:Mecom APN 3 30,015,183 (GRCm39) missense probably damaging 1.00
IGL03052:Mecom APN 3 30,015,112 (GRCm39) splice site probably benign
IGL03237:Mecom APN 3 30,010,648 (GRCm39) intron probably benign
R0004:Mecom UTSW 3 30,034,060 (GRCm39) missense probably damaging 1.00
R0299:Mecom UTSW 3 30,034,560 (GRCm39) missense probably benign 0.41
R0324:Mecom UTSW 3 30,017,261 (GRCm39) missense probably damaging 0.99
R0485:Mecom UTSW 3 30,035,121 (GRCm39) intron probably benign
R0696:Mecom UTSW 3 30,010,538 (GRCm39) missense probably benign 0.01
R1322:Mecom UTSW 3 30,011,522 (GRCm39) missense probably damaging 0.98
R1396:Mecom UTSW 3 30,033,949 (GRCm39) missense possibly damaging 0.50
R1419:Mecom UTSW 3 30,035,038 (GRCm39) missense probably damaging 1.00
R1469:Mecom UTSW 3 30,034,197 (GRCm39) missense probably damaging 1.00
R1469:Mecom UTSW 3 30,034,197 (GRCm39) missense probably damaging 1.00
R1620:Mecom UTSW 3 30,041,237 (GRCm39) missense probably damaging 1.00
R1867:Mecom UTSW 3 30,563,577 (GRCm39) critical splice donor site probably null
R1876:Mecom UTSW 3 30,047,807 (GRCm39) missense probably damaging 1.00
R1922:Mecom UTSW 3 30,011,591 (GRCm39) missense probably damaging 0.99
R2044:Mecom UTSW 3 30,034,741 (GRCm39) missense probably damaging 1.00
R2087:Mecom UTSW 3 30,006,963 (GRCm39) missense probably benign 0.01
R2116:Mecom UTSW 3 30,019,607 (GRCm39) missense probably damaging 1.00
R3500:Mecom UTSW 3 30,035,061 (GRCm39) missense probably damaging 1.00
R4348:Mecom UTSW 3 30,020,887 (GRCm39) missense possibly damaging 0.72
R4350:Mecom UTSW 3 30,020,887 (GRCm39) missense possibly damaging 0.72
R4351:Mecom UTSW 3 30,020,887 (GRCm39) missense possibly damaging 0.72
R4352:Mecom UTSW 3 30,020,887 (GRCm39) missense possibly damaging 0.72
R4353:Mecom UTSW 3 30,020,887 (GRCm39) missense possibly damaging 0.72
R4358:Mecom UTSW 3 30,033,934 (GRCm39) nonsense probably null
R4370:Mecom UTSW 3 30,011,504 (GRCm39) missense probably damaging 1.00
R4380:Mecom UTSW 3 30,041,219 (GRCm39) missense probably damaging 1.00
R4676:Mecom UTSW 3 30,322,817 (GRCm39) intron probably benign
R4690:Mecom UTSW 3 30,292,459 (GRCm39) missense probably benign 0.01
R4750:Mecom UTSW 3 30,011,679 (GRCm39) missense probably damaging 0.97
R4812:Mecom UTSW 3 30,194,517 (GRCm39) start codon destroyed probably null
R4821:Mecom UTSW 3 30,039,500 (GRCm39) missense probably damaging 1.00
R4986:Mecom UTSW 3 30,034,848 (GRCm39) missense probably damaging 0.99
R5020:Mecom UTSW 3 30,015,255 (GRCm39) missense probably damaging 1.00
R5099:Mecom UTSW 3 30,039,465 (GRCm39) intron probably benign
R5410:Mecom UTSW 3 30,051,870 (GRCm39) missense probably benign 0.01
R5415:Mecom UTSW 3 30,011,675 (GRCm39) missense possibly damaging 0.93
R5556:Mecom UTSW 3 30,292,249 (GRCm39) missense probably damaging 1.00
R5811:Mecom UTSW 3 30,015,149 (GRCm39) missense probably benign 0.00
R5955:Mecom UTSW 3 30,015,195 (GRCm39) missense probably damaging 1.00
R6153:Mecom UTSW 3 30,047,797 (GRCm39) missense possibly damaging 0.92
R6321:Mecom UTSW 3 30,034,741 (GRCm39) missense probably damaging 1.00
R6335:Mecom UTSW 3 30,034,905 (GRCm39) missense probably damaging 1.00
R6383:Mecom UTSW 3 30,051,875 (GRCm39) missense probably damaging 1.00
R6435:Mecom UTSW 3 30,034,398 (GRCm39) missense probably damaging 1.00
R6468:Mecom UTSW 3 30,194,535 (GRCm39) intron probably benign
R6476:Mecom UTSW 3 30,034,717 (GRCm39) missense possibly damaging 0.70
R6673:Mecom UTSW 3 30,034,851 (GRCm39) missense probably benign 0.09
R6721:Mecom UTSW 3 30,034,023 (GRCm39) missense probably damaging 1.00
R7071:Mecom UTSW 3 30,034,857 (GRCm39) missense probably damaging 1.00
R7095:Mecom UTSW 3 30,035,103 (GRCm39) missense probably damaging 1.00
R7131:Mecom UTSW 3 30,035,094 (GRCm39) missense probably damaging 1.00
R7247:Mecom UTSW 3 30,194,505 (GRCm39) missense unknown
R7265:Mecom UTSW 3 30,034,282 (GRCm39) missense possibly damaging 0.65
R7556:Mecom UTSW 3 30,041,220 (GRCm39) missense probably benign 0.01
R7599:Mecom UTSW 3 30,010,534 (GRCm39) missense probably damaging 0.96
R7609:Mecom UTSW 3 30,010,591 (GRCm39) missense probably damaging 0.99
R7844:Mecom UTSW 3 30,063,973 (GRCm39) missense unknown
R8047:Mecom UTSW 3 30,292,404 (GRCm39) missense
R8070:Mecom UTSW 3 30,033,987 (GRCm39) missense probably damaging 1.00
R8316:Mecom UTSW 3 30,011,529 (GRCm39) missense probably benign 0.01
R8351:Mecom UTSW 3 30,039,519 (GRCm39) missense probably benign 0.00
R8451:Mecom UTSW 3 30,039,519 (GRCm39) missense probably benign 0.00
R8757:Mecom UTSW 3 30,292,268 (GRCm39) missense
R8890:Mecom UTSW 3 30,006,882 (GRCm39) missense probably damaging 1.00
R8982:Mecom UTSW 3 30,017,255 (GRCm39) missense probably damaging 1.00
R9003:Mecom UTSW 3 30,034,639 (GRCm39) missense probably benign 0.00
R9328:Mecom UTSW 3 30,063,994 (GRCm39) missense unknown
R9425:Mecom UTSW 3 30,039,597 (GRCm39) missense probably benign 0.00
R9508:Mecom UTSW 3 30,010,621 (GRCm39) missense probably benign 0.01
R9681:Mecom UTSW 3 30,033,803 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- GCCTGAAGTCAAGGGCTTCTCATC -3'
(R):5'- ACCAAGTGGCAGTGACCTGGAAAC -3'

Sequencing Primer
(F):5'- TCAAAAGGGGACTCAGAGCTTC -3'
(R):5'- GCTCTGATCTGGAAAGTGACC -3'
Posted On 2014-03-28