Incidental Mutation 'R8316:Mecom'
ID 641675
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 067854-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8316 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 30005445-30563937 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 30011529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 591 (E591K)
Ref Sequence ENSEMBL: ENSMUSP00000134303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108270] [ENSMUST00000108271] [ENSMUST00000166001] [ENSMUST00000172694] [ENSMUST00000173495]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000108270
AA Change: E915K
SMART Domains Protein: ENSMUSP00000103905
Gene: ENSMUSG00000027684
AA Change: E915K

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
AA Change: E668K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000103906
Gene: ENSMUSG00000027684
AA Change: E668K

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: ENSMUST00000166001
AA Change: E924K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128563
Gene: ENSMUSG00000027684
AA Change: E924K

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 probably benign
Transcript: ENSMUST00000172694
AA Change: E591K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000134303
Gene: ENSMUSG00000027684
AA Change: E591K

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 possibly damaging
Transcript: ENSMUST00000173059
AA Change: E715K

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000133310
Gene: ENSMUSG00000027684
AA Change: E715K

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
AA Change: E924K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134626
Gene: ENSMUSG00000027684
AA Change: E924K

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 damaging
Transcript: ENSMUST00000174413
AA Change: E580K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134278
Gene: ENSMUSG00000027684
AA Change: E580K

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (56/57)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik A C 10: 78,903,573 (GRCm39) C248G probably damaging Het
4933427D14Rik A T 11: 72,059,612 (GRCm39) V693E possibly damaging Het
Abcc10 G T 17: 46,638,735 (GRCm39) L42I probably damaging Het
Alb A G 5: 90,616,449 (GRCm39) E318G probably benign Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Aox4 T A 1: 58,293,470 (GRCm39) C941S possibly damaging Het
Aqp9 A G 9: 71,045,495 (GRCm39) V38A probably benign Het
AW209491 A G 13: 14,812,349 (GRCm39) T401A probably damaging Het
Ccdc57 C T 11: 120,776,742 (GRCm39) A553T probably damaging Het
Celf2 C T 2: 6,551,914 (GRCm39) D522N probably benign Het
Cfap210 A G 2: 69,612,287 (GRCm39) probably null Het
Cmpk2 A G 12: 26,524,136 (GRCm39) N311S probably damaging Het
Dcn T C 10: 97,330,939 (GRCm39) I91T probably damaging Het
Defa30 G A 8: 21,624,709 (GRCm39) V11I probably benign Het
Dnmt3a T A 12: 3,946,965 (GRCm39) V397E probably benign Het
Ehhadh G A 16: 21,585,053 (GRCm39) A276V probably benign Het
Fibcd1 T C 2: 31,723,791 (GRCm39) probably benign Het
Gpr156 A G 16: 37,818,336 (GRCm39) D344G probably null Het
H2-T5 A G 17: 36,479,154 (GRCm39) S32P unknown Het
Invs G T 4: 48,426,199 (GRCm39) R995S possibly damaging Het
Itpr3 T C 17: 27,325,199 (GRCm39) M1264T possibly damaging Het
Lzic C T 4: 149,572,527 (GRCm39) A39V probably benign Het
Marchf6 A G 15: 31,482,650 (GRCm39) L516P possibly damaging Het
Mical3 T C 6: 120,911,944 (GRCm39) D1916G probably damaging Het
Mms22l T C 4: 24,578,855 (GRCm39) I738T probably damaging Het
Mroh2b G A 15: 4,980,746 (GRCm39) W1438* probably null Het
Mroh8 G T 2: 157,071,879 (GRCm39) T542K possibly damaging Het
Msl1 A T 11: 98,691,074 (GRCm39) K416I probably damaging Het
Myh15 C A 16: 48,940,381 (GRCm39) T777N probably damaging Het
Or51a10 A T 7: 103,698,829 (GRCm39) V244E probably damaging Het
Or5p5 G T 7: 107,414,030 (GRCm39) V82F possibly damaging Het
Or5p58 A G 7: 107,694,450 (GRCm39) F109S probably benign Het
Or6c70 A G 10: 129,709,891 (GRCm39) V245A probably damaging Het
Pdzk1ip1 T A 4: 114,946,323 (GRCm39) V61D probably benign Het
Plcxd1 A T 5: 110,250,180 (GRCm39) M212L probably benign Het
Pld1 A G 3: 28,078,361 (GRCm39) T7A probably benign Het
Ppm1n T C 7: 19,012,302 (GRCm39) D310G probably damaging Het
Prpf8 A G 11: 75,390,641 (GRCm39) N1264S possibly damaging Het
Pum2 T A 12: 8,763,456 (GRCm39) N204K possibly damaging Het
Recql5 G A 11: 115,784,861 (GRCm39) T822I possibly damaging Het
Rfc1 T C 5: 65,436,077 (GRCm39) T656A probably benign Het
Sacs T C 14: 61,427,068 (GRCm39) Y159H possibly damaging Het
Septin14 A G 5: 129,773,194 (GRCm39) S148P probably damaging Het
Slco1c1 T A 6: 141,492,640 (GRCm39) M341K probably benign Het
Smok2a T C 17: 13,445,160 (GRCm39) S246P probably damaging Het
Spata9 C A 13: 76,125,890 (GRCm39) S124R possibly damaging Het
Sri A G 5: 8,113,317 (GRCm39) N103D probably damaging Het
Sspo G A 6: 48,459,622 (GRCm39) C3327Y probably damaging Het
Trank1 A G 9: 111,178,370 (GRCm39) M353V probably benign Het
Trim80 A T 11: 115,332,006 (GRCm39) E66V probably damaging Het
Txndc16 A G 14: 45,448,641 (GRCm39) L73P probably damaging Het
Ugt2b34 T A 5: 87,039,249 (GRCm39) M471L probably damaging Het
Ush2a G T 1: 188,178,899 (GRCm39) V1357L probably benign Het
Usp15 G T 10: 122,959,848 (GRCm39) P855T Het
Uspl1 C T 5: 149,135,491 (GRCm39) T290I possibly damaging Het
Zbtb2 A C 10: 4,319,084 (GRCm39) M314R probably benign Het
Zcchc2 A G 1: 105,959,844 (GRCm39) Y1151C probably damaging Het
Zmat3 T C 3: 32,395,670 (GRCm39) Y279C probably 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
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
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
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'- CCTTTCCCAGGTCAAATTGAAC -3'
(R):5'- CTCTTGAAAGGATGAATGGCAG -3'

Sequencing Primer
(F):5'- CCCAGGTCAAATTGAACTTTCATGG -3'
(R):5'- TGAATGGCAGTCACTTCAAGG -3'
Posted On 2020-07-28