Mutagenetix > Incidental Mutation

Incidental Mutation 'R4351:Mecom'

328501

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

041106-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4351 (G1)

Quality Score

181

Status

Validated

Chromosome

Chromosomal Location

30005445-30563937 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 30020887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 452 (V452L)

Ref Sequence

ENSEMBL: ENSMUSP00000103906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108270] [ENSMUST00000108271] [ENSMUST00000166001] [ENSMUST00000172694] [ENSMUST00000172697] [ENSMUST00000173495] [ENSMUST00000173899]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000108270
AA Change: V699L

SMART Domains

Protein: ENSMUSP00000103905
Gene: ENSMUSG00000027684
AA Change: V699L

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000108271
AA Change: V452L

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103906
Gene: ENSMUSG00000027684
AA Change: V452L

Domain	Start	End	E-Value	Type
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: V708L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000128563
Gene: ENSMUSG00000027684
AA Change: V708L

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000172694
AA Change: V375L

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134303
Gene: ENSMUSG00000027684
AA Change: V375L

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000172697
AA Change: V898L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000134117
Gene: ENSMUSG00000027684
AA Change: V898L

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000173059
AA Change: V499L

SMART Domains

Protein: ENSMUSP00000133310
Gene: ENSMUSG00000027684
AA Change: V499L

Domain	Start	End	E-Value	Type
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: V708L

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000134626
Gene: ENSMUSG00000027684
AA Change: V708L

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000173899
AA Change: V889L

SMART Domains

Protein: ENSMUSP00000133410
Gene: ENSMUSG00000027684
AA Change: V889L

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000174413
AA Change: V364L

SMART Domains

Protein: ENSMUSP00000134278
Gene: ENSMUSG00000027684
AA Change: V364L

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0745

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (42/43)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Aak1	A	G	6: 86,912,519 (GRCm39)		probably null	Het
Abtb2	T	A	2: 103,513,738 (GRCm39)	D382E	possibly damaging	Het
Adamts1	T	A	16: 85,599,234 (GRCm39)	D122V	probably benign	Het
Adcy6	A	T	15: 98,502,041 (GRCm39)	V191E	probably benign	Het
Adh1	A	G	3: 137,986,258 (GRCm39)	T82A	probably benign	Het
Ak6	C	T	13: 100,792,111 (GRCm39)	Q185*	probably null	Het
Aldh6a1	A	G	12: 84,490,535 (GRCm39)	Y27H	probably benign	Het
Apob	A	G	12: 8,043,054 (GRCm39)	M812V	probably benign	Het
Arhgef10	C	A	8: 15,041,145 (GRCm39)	S748*	probably null	Het
Brd3	A	T	2: 27,347,028 (GRCm39)	Y369N	probably damaging	Het
Cracdl	A	G	1: 37,663,993 (GRCm39)	F635S	probably benign	Het
Dhh	A	G	15: 98,796,099 (GRCm39)		probably benign	Het
Disp1	A	G	1: 182,881,542 (GRCm39)	V200A	probably benign	Het
Dvl3	T	C	16: 20,344,394 (GRCm39)	Y257H	possibly damaging	Het
Dzip1	T	C	14: 119,120,938 (GRCm39)	D673G	probably benign	Het
Evx1	A	G	6: 52,290,846 (GRCm39)	D6G	probably damaging	Het
Garin1b	C	G	6: 29,320,800 (GRCm39)	I141M	probably damaging	Het
Gfy	T	C	7: 44,827,040 (GRCm39)	E352G	probably benign	Het
Hars2	A	G	18: 36,919,231 (GRCm39)	E123G	probably damaging	Het
Hsd17b4	A	T	18: 50,275,701 (GRCm39)	D115V	probably damaging	Het
Lyn	G	A	4: 3,789,796 (GRCm39)	R443H	probably damaging	Het
Nckap1l	A	G	15: 103,395,246 (GRCm39)	T909A	probably damaging	Het
Ncor1	A	G	11: 62,301,644 (GRCm39)		probably null	Het
Nrp2	A	G	1: 62,777,576 (GRCm39)	D127G	probably damaging	Het
Or2v2	A	G	11: 49,004,530 (GRCm39)	S8P	probably damaging	Het
Or8g52	T	A	9: 39,630,865 (GRCm39)	M114K	probably damaging	Het
Prb1b	T	G	6: 132,290,624 (GRCm39)	Y25S	unknown	Het
Ptch1	C	T	13: 63,682,143 (GRCm39)	R537H	probably damaging	Het
Rabgap1	A	G	2: 37,373,794 (GRCm39)	T269A	probably benign	Het
Rnf31	AAC	A	14: 55,838,555 (GRCm39)		probably null	Het
Sptbn5	T	C	2: 119,913,680 (GRCm39)		noncoding transcript	Het
Sst	A	G	16: 23,708,565 (GRCm39)	S89P	probably damaging	Het
Tm2d3	A	G	7: 65,344,939 (GRCm39)	Y49C	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Wdr81	A	G	11: 75,332,638 (GRCm39)	L1921P	probably damaging	Het

Other mutations in Mecom

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- ATCATGACTGCTTTGGGGCATC -3'
(R):5'- TGCATGTAGAAGATTTGAAGGCTTC -3'

Sequencing Primer
(F):5'- TGCTCATCCAAAGGTCCTGAG -3'
(R):5'- CTTCCCGTAGATTAGGGAGAGATC -3'

Posted On

2015-07-07