Incidental Mutation 'R7247:Mecom'
ID 563595
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
MMRRC Submission 045310-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7247 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 30005445-30563937 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30194505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 5 (V5A)
Ref Sequence ENSEMBL: ENSMUSP00000103906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108271] [ENSMUST00000172697] [ENSMUST00000172754] [ENSMUST00000173495] [ENSMUST00000173899]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000108271
AA Change: V5A
SMART Domains Protein: ENSMUSP00000103906
Gene: ENSMUSG00000027684
AA Change: V5A

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 benign
Transcript: ENSMUST00000172697
SMART Domains Protein: ENSMUSP00000134117
Gene: ENSMUSG00000027684

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 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: ENSMUST00000173495
SMART Domains Protein: ENSMUSP00000134626
Gene: ENSMUSG00000027684

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 probably benign
Transcript: ENSMUST00000173899
SMART Domains Protein: ENSMUSP00000133410
Gene: ENSMUSG00000027684

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,240,732 (GRCm39) E865G probably benign Het
Actrt2 A C 4: 154,751,880 (GRCm39) D85E probably benign Het
Ankrd55 A G 13: 112,472,787 (GRCm39) E153G probably damaging Het
Arfgef3 T A 10: 18,501,139 (GRCm39) H1037L probably benign Het
Camk2a A G 18: 61,076,277 (GRCm39) Y85C unknown Het
Caprin1 A T 2: 103,609,819 (GRCm39) V153E possibly damaging Het
Caskin2 G A 11: 115,692,722 (GRCm39) P688S probably benign Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,228,053 (GRCm39) probably benign Het
Ccdc116 T C 16: 16,957,555 (GRCm39) T535A possibly damaging Het
Cdh9 G A 15: 16,778,341 (GRCm39) R52H probably damaging Het
Cdk5rap2 A G 4: 70,255,666 (GRCm39) L406S probably damaging Het
Cep350 A G 1: 155,786,499 (GRCm39) M1449T probably damaging Het
Chst8 T A 7: 34,375,361 (GRCm39) K159N probably damaging Het
Dcdc2a A G 13: 25,286,374 (GRCm39) H136R probably benign Het
Dip2a C T 10: 76,108,366 (GRCm39) probably null Het
Dock2 G A 11: 34,605,340 (GRCm39) R260* probably null Het
Dscam A G 16: 96,622,008 (GRCm39) V481A probably damaging Het
E130308A19Rik A G 4: 59,690,502 (GRCm39) D112G probably damaging Het
Ezh2 T C 6: 47,510,708 (GRCm39) K634E probably damaging Het
Fcgr2b A G 1: 170,793,269 (GRCm39) probably null Het
Fgfrl1 T C 5: 108,851,365 (GRCm39) V94A possibly damaging Het
Gpr156 C A 16: 37,768,103 (GRCm39) N6K probably damaging Het
Gsdmc2 A T 15: 63,705,183 (GRCm39) F177I probably benign Het
Igkv4-54 T A 6: 69,608,842 (GRCm39) S26C probably damaging Het
Iglc3 T C 16: 18,884,191 (GRCm39) H80R Het
Immp1l G A 2: 105,767,401 (GRCm39) G87S probably damaging Het
Itgav A T 2: 83,555,179 (GRCm39) D34V probably damaging Het
Lrp1b G A 2: 41,159,224 (GRCm39) T1686I Het
Ltn1 T C 16: 87,206,275 (GRCm39) D935G probably benign Het
Map3k8 T C 18: 4,334,036 (GRCm39) D352G probably damaging Het
Map3k9 T C 12: 81,772,604 (GRCm39) K610E possibly damaging Het
Marchf4 G T 1: 72,491,637 (GRCm39) Y211* probably null Het
Marf1 A T 16: 13,944,957 (GRCm39) L1304Q probably damaging Het
Matcap1 A T 8: 106,011,331 (GRCm39) Y268N probably benign Het
Mep1a A T 17: 43,785,995 (GRCm39) V711D possibly damaging Het
Naca T A 10: 127,878,467 (GRCm39) D1166E unknown Het
Neb G T 2: 52,148,753 (GRCm39) P2598Q probably damaging Het
Notch4 A T 17: 34,791,491 (GRCm39) E546V probably damaging Het
Nudt18 A G 14: 70,815,422 (GRCm39) T12A unknown Het
Nvl A C 1: 180,939,851 (GRCm39) probably null Het
Obscn G T 11: 58,994,144 (GRCm39) C1579* probably null Het
Or4b13 G A 2: 90,083,165 (GRCm39) P56S probably damaging Het
Or51e2 T C 7: 102,391,551 (GRCm39) I220V probably damaging Het
Or6c5b T C 10: 129,246,051 (GRCm39) V272A probably damaging Het
Or7g33 A T 9: 19,448,629 (GRCm39) I199K probably benign Het
Or8g19 T A 9: 39,056,153 (GRCm39) Y252* probably null Het
Oxa1l A T 14: 54,598,312 (GRCm39) M1L probably benign Het
Paqr9 A G 9: 95,442,246 (GRCm39) T79A possibly damaging Het
Plec A T 15: 76,061,543 (GRCm39) V2798E probably damaging Het
Potefam3f A G 8: 20,479,022 (GRCm39) N10S Het
Ptpn4 A T 1: 119,617,764 (GRCm39) *557R probably null Het
Ptprt T C 2: 161,375,443 (GRCm39) E1379G probably benign Het
Rad18 G T 6: 112,642,286 (GRCm39) T327K possibly damaging Het
Rps2 T A 17: 24,939,554 (GRCm39) I75N possibly damaging Het
Scgb2b2 A T 7: 31,003,021 (GRCm39) R39W probably damaging Het
Sh3d21 A G 4: 126,045,908 (GRCm39) F307S probably benign Het
Snap91 A G 9: 86,674,669 (GRCm39) V507A unknown Het
Srgap1 T A 10: 121,705,695 (GRCm39) Y243F probably damaging Het
Stim1 T A 7: 102,070,739 (GRCm39) probably null Het
Top2b T C 14: 16,416,962 (GRCm38) V1161A probably benign Het
Tpcn1 T C 5: 120,723,315 (GRCm39) D16G possibly damaging Het
Trank1 A T 9: 111,196,580 (GRCm39) I1535F probably damaging Het
Txnrd2 T C 16: 18,274,822 (GRCm39) F278L probably damaging Het
Ufl1 A T 4: 25,254,637 (GRCm39) D579E probably damaging Het
Vps45 T C 3: 95,948,717 (GRCm39) N346S probably benign Het
Vps51 T A 19: 6,127,419 (GRCm39) probably benign Het
Zfp536 T C 7: 37,268,631 (GRCm39) N262D probably benign Het
Zmynd10 A G 9: 107,425,976 (GRCm39) I103M possibly damaging Het
Zswim1 C T 2: 164,667,719 (GRCm39) H324Y possibly damaging Het
Zxdc T C 6: 90,361,155 (GRCm39) W507R unknown 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
R1487:Mecom UTSW 3 30,034,213 (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
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'- AACCAGCCACCTTTTACAGTTC -3'
(R):5'- ATAATGCTCCTACAGAGGGACC -3'

Sequencing Primer
(F):5'- GCCACCTTTTACAGTTCAGAAC -3'
(R):5'- ACTGCTTCTCTTTACTCAGAGG -3'
Posted On 2019-06-26