Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03237:Mecom'

414116

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 #

IGL03237

Quality Score

Status

Chromosome

Chromosomal Location

30005445-30563937 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 30010648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000108270

SMART Domains

Protein: ENSMUSP00000103905
Gene: ENSMUSG00000027684

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 benign
Transcript: ENSMUST00000108271

SMART Domains

Protein: ENSMUSP00000103906
Gene: ENSMUSG00000027684

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

SMART Domains

Protein: ENSMUSP00000128563
Gene: ENSMUSG00000027684

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 benign
Transcript: ENSMUST00000172694

SMART Domains

Protein: ENSMUSP00000134303
Gene: ENSMUSG00000027684

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: ENSMUST00000173059

SMART Domains

Protein: ENSMUSP00000133310
Gene: ENSMUSG00000027684

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

SMART Domains

Protein: ENSMUSP00000134626
Gene: ENSMUSG00000027684

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

probably benign
Transcript: ENSMUST00000174413

SMART Domains

Protein: ENSMUSP00000134278
Gene: ENSMUSG00000027684

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	G	13: 91,929,388 (GRCm39)	Y405C	probably benign	Het
Adam19	A	G	11: 46,028,383 (GRCm39)	K672R	probably benign	Het
Adamts7	C	A	9: 90,070,717 (GRCm39)	P613T	probably damaging	Het
Adgrl1	G	T	8: 84,656,312 (GRCm39)		probably null	Het
Adrb1	A	T	19: 56,711,800 (GRCm39)	N333Y	probably damaging	Het
Aqp7	C	T	4: 41,034,884 (GRCm39)	V190M	possibly damaging	Het
Atg101	T	C	15: 101,185,054 (GRCm39)	F59L	probably damaging	Het
Capn12	T	C	7: 28,590,366 (GRCm39)	S638P	probably damaging	Het
Ccm2l	T	C	2: 152,907,922 (GRCm39)		probably benign	Het
Cdc14a	A	T	3: 116,198,275 (GRCm39)		probably benign	Het
Cdh20	A	T	1: 110,066,037 (GRCm39)	K770N	possibly damaging	Het
Clxn	A	G	16: 14,738,652 (GRCm39)	D161G	probably damaging	Het
Col23a1	A	C	11: 51,458,746 (GRCm39)	E294D	possibly damaging	Het
Cped1	A	T	6: 22,233,595 (GRCm39)	Y679F	probably damaging	Het
Ctu2	A	G	8: 123,205,792 (GRCm39)	E180G	probably benign	Het
Cyp11b2	C	T	15: 74,722,914 (GRCm39)	V495I	probably benign	Het
Ecpas	A	T	4: 58,810,668 (GRCm39)	M1563K	probably benign	Het
Gabrg3	A	T	7: 56,632,460 (GRCm39)		probably null	Het
Hsd17b11	A	G	5: 104,151,036 (GRCm39)	*233Q	probably null	Het
Klhl41	T	C	2: 69,500,902 (GRCm39)	V121A	possibly damaging	Het
Kptn	A	T	7: 15,854,050 (GRCm39)	D56V	probably damaging	Het
L3mbtl4	T	A	17: 69,084,856 (GRCm39)	I589N	probably damaging	Het
Lpl	A	T	8: 69,347,378 (GRCm39)	N177Y	possibly damaging	Het
Manba	G	A	3: 135,250,512 (GRCm39)	V380M	probably damaging	Het
Mertk	A	G	2: 128,632,192 (GRCm39)	E707G	probably damaging	Het
Myo5a	A	T	9: 75,037,276 (GRCm39)	I160F	probably damaging	Het
Myo7a	A	T	7: 97,751,800 (GRCm39)	I81N	probably damaging	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Nipal1	C	T	5: 72,824,150 (GRCm39)	R76C	probably damaging	Het
Noc3l	C	T	19: 38,803,125 (GRCm39)		probably null	Het
Nt5e	A	G	9: 88,237,787 (GRCm39)	D239G	probably damaging	Het
Olr1	A	C	6: 129,479,117 (GRCm39)	W34G	probably damaging	Het
Plekhf1	A	T	7: 37,920,799 (GRCm39)	N256K	probably benign	Het
Psen2	T	C	1: 180,068,414 (GRCm39)	T80A	possibly damaging	Het
Psg27	A	G	7: 18,294,417 (GRCm39)	I330T	probably benign	Het
Ranbp2	T	C	10: 58,328,783 (GRCm39)	V2894A	probably damaging	Het
Sgcz	A	T	8: 38,030,332 (GRCm39)	D170E	probably benign	Het
Snrnp200	C	T	2: 127,075,233 (GRCm39)	A1573V	probably damaging	Het
Steap3	C	T	1: 120,171,520 (GRCm39)	G195D	probably damaging	Het
Tmem165	T	A	5: 76,347,356 (GRCm39)	Y5*	probably null	Het
Tnpo1	C	T	13: 99,000,348 (GRCm39)	E340K	probably damaging	Het
Vmn2r67	A	T	7: 84,799,118 (GRCm39)	C530S	probably damaging	Het
Wdfy3	T	A	5: 101,992,465 (GRCm39)	D3389V	probably damaging	Het
Zfp128	A	C	7: 12,624,953 (GRCm39)	E440D	probably benign	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
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

2016-08-02