Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01978:Mecom'

181765

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01978

Quality Score

Status

Chromosome

Chromosomal Location

30005445-30563937 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30017315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 450 (I450T)

Ref Sequence

ENSEMBL: ENSMUSP00000134303 (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: I774T

SMART Domains

Protein: ENSMUSP00000103905
Gene: ENSMUSG00000027684
AA Change: I774T

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

probably damaging
Transcript: ENSMUST00000108271
AA Change: I527T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103906
Gene: ENSMUSG00000027684
AA Change: I527T

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

possibly damaging
Transcript: ENSMUST00000166001
AA Change: I783T

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128563
Gene: ENSMUSG00000027684
AA Change: I783T

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

probably damaging
Transcript: ENSMUST00000172694
AA Change: I450T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134303
Gene: ENSMUSG00000027684
AA Change: I450T

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

SMART Domains

Protein: ENSMUSP00000134117
Gene: ENSMUSG00000027684

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: I574T

SMART Domains

Protein: ENSMUSP00000133310
Gene: ENSMUSG00000027684
AA Change: I574T

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 damaging
Transcript: ENSMUST00000173495
AA Change: I783T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134626
Gene: ENSMUSG00000027684
AA Change: I783T

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: I964T

SMART Domains

Protein: ENSMUSP00000133410
Gene: ENSMUSG00000027684
AA Change: I964T

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: I439T

SMART Domains

Protein: ENSMUSP00000134278
Gene: ENSMUSG00000027684
AA Change: I439T

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

Coding Region Coverage

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	T	A	17: 48,453,164 (GRCm39)	T6S	probably damaging	Het
Acot5	T	C	12: 84,122,172 (GRCm39)	V252A	possibly damaging	Het
Bmper	A	T	9: 23,292,737 (GRCm39)	N349Y	probably damaging	Het
Brap	A	G	5: 121,816,910 (GRCm39)		probably benign	Het
Col9a2	G	A	4: 120,901,863 (GRCm39)	G139E	unknown	Het
Cplane1	A	T	15: 8,248,866 (GRCm39)	N1805I	probably damaging	Het
Cyp2j8	A	C	4: 96,392,246 (GRCm39)		probably null	Het
Dcbld2	A	G	16: 58,284,682 (GRCm39)	D612G	probably benign	Het
Dsc3	C	T	18: 20,107,253 (GRCm39)	R456Q	possibly damaging	Het
Fat2	T	C	11: 55,160,972 (GRCm39)	T3253A	probably benign	Het
Hoxc12	T	A	15: 102,845,299 (GRCm39)	H4Q	probably damaging	Het
Il6st	A	G	13: 112,633,891 (GRCm39)	E445G	possibly damaging	Het
Ipo8	T	C	6: 148,678,787 (GRCm39)	E937G	probably benign	Het
Kif5a	A	C	10: 127,081,608 (GRCm39)	D185E	probably benign	Het
Klhl38	T	C	15: 58,178,485 (GRCm39)	D495G	probably damaging	Het
Klra5	A	G	6: 129,888,393 (GRCm39)	V11A	probably benign	Het
Lrch1	G	A	14: 75,023,782 (GRCm39)	T581M	probably damaging	Het
Mrgprb2	C	A	7: 48,202,312 (GRCm39)	V138L	probably damaging	Het
Muc15	G	A	2: 110,561,941 (GRCm39)	A126T	probably benign	Het
Mybpc1	A	T	10: 88,367,632 (GRCm39)	I522K	probably damaging	Het
Nectin1	G	A	9: 43,703,444 (GRCm39)	R234H	probably damaging	Het
Or5b98	T	C	19: 12,931,406 (GRCm39)	F151S	probably benign	Het
Or5h22	A	T	16: 58,894,630 (GRCm39)	I271K	probably benign	Het
Pdia6	T	A	12: 17,324,423 (GRCm39)	H91Q	possibly damaging	Het
Pfkfb4	A	T	9: 108,858,010 (GRCm39)	H445L	probably damaging	Het
Pkd1l1	T	C	11: 8,911,336 (GRCm39)	T314A	unknown	Het
Rb1cc1	A	G	1: 6,308,592 (GRCm39)	D159G	probably damaging	Het
Rhoh	T	A	5: 66,050,031 (GRCm39)	S100R	probably benign	Het
Rsbn1	T	A	3: 103,868,816 (GRCm39)	D618E	probably damaging	Het
Slc25a47	T	C	12: 108,817,116 (GRCm39)	V4A	probably damaging	Het
Svs3b	T	A	2: 164,098,541 (GRCm39)	M1L	probably benign	Het
Thsd7a	T	C	6: 12,331,005 (GRCm39)	N1379S	probably benign	Het
Tmed3	T	C	9: 89,586,806 (GRCm39)	D58G	probably benign	Het
Trh	G	A	6: 92,219,596 (GRCm39)	A240V	probably benign	Het
Ubox5	A	T	2: 130,442,372 (GRCm39)	V105E	probably benign	Het
Vmn2r67	A	G	7: 84,800,649 (GRCm39)		probably null	Het
Vps13c	A	G	9: 67,837,925 (GRCm39)	H1825R	probably benign	Het
Wasf1	C	A	10: 40,812,197 (GRCm39)	P329T	unknown	Het
Wee2	T	C	6: 40,432,087 (GRCm39)	F219L	probably damaging	Het
Zp3r	T	C	1: 130,526,678 (GRCm39)	D175G	probably damaging	Het

Other mutations in Mecom

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2014-05-07