Mutagenetix > Incidental Mutation

Incidental Mutation 'R2087:Mecom'

231505

Institutional Source

Beutler Lab

Gene Symbol

Mecom

Ensembl Gene

ENSMUSG00000027684

Gene Name

MDS1 and EVI1 complex locus

Synonyms

Evi1, Jbo, D630039M04Rik, ZNFPR1B1, Evi-1, Prdm3, Mds1, MDS1-EVI1

MMRRC Submission

040092-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2087 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29951296-30548008 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29952814 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 764 (S764P)

Ref Sequence

ENSEMBL: ENSMUSP00000103906 (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: S1011P

SMART Domains

Protein: ENSMUSP00000103905
Gene: ENSMUSG00000027684
AA Change: S1011P

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
AA Change: S764P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000103906
Gene: ENSMUSG00000027684
AA Change: S764P

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
AA Change: S687P

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

SMART Domains

Protein: ENSMUSP00000134303
Gene: ENSMUSG00000027684
AA Change: S687P

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

unknown
Transcript: ENSMUST00000173059
AA Change: S811P

SMART Domains

Protein: ENSMUSP00000133310
Gene: ENSMUSG00000027684
AA Change: S811P

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: S1020P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134626
Gene: ENSMUSG00000027684
AA Change: S1020P

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

Meta Mutation Damage Score

0.0604

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

95% (57/60)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021P04Rik	T	A	19: 24,065,000		noncoding transcript	Het
Adamts8	G	A	9: 30,962,112	R871Q	probably damaging	Het
Ank1	T	C	8: 23,093,811	L310S	probably damaging	Het
Atp2a3	A	G	11: 72,980,448	T592A	probably damaging	Het
Bpifb6	A	G	2: 153,906,078	D219G	possibly damaging	Het
Catsper4	T	C	4: 134,226,605	N81S	probably damaging	Het
Ccdc14	T	C	16: 34,695,645		probably null	Het
Ces1c	A	C	8: 93,107,602	N353K	probably benign	Het
Chrna6	T	A	8: 27,407,127	M241L	probably benign	Het
Chtf8	T	A	8: 106,885,936	R124*	probably null	Het
Cpt1b	A	G	15: 89,422,208	V296A	probably benign	Het
Cryl1	G	A	14: 57,275,945	S273L	possibly damaging	Het
Ctps	T	C	4: 120,562,815	D134G	probably benign	Het
Cyp4f18	T	C	8: 72,000,988	M138V	probably benign	Het
Dnajb12	A	G	10: 59,890,845	K107R	possibly damaging	Het
Epha1	C	T	6: 42,363,568	D590N	probably benign	Het
Fndc3b	A	G	3: 27,451,554	V855A	probably benign	Het
Ganc	A	G	2: 120,457,257	Y822C	probably damaging	Het
Hook2	A	G	8: 85,002,691	D622G	probably damaging	Het
Kcnj8	T	A	6: 142,565,696	N395I	probably benign	Het
Kdm4b	T	C	17: 56,389,564	S427P	possibly damaging	Het
Krt12	A	G	11: 99,418,633	F267S	probably damaging	Het
Lrrn2	T	G	1: 132,937,751	F185V	probably damaging	Het
Mfsd14b	C	G	13: 65,067,982	G386R	probably damaging	Het
Mrm2	A	G	5: 140,328,400	S227P	probably damaging	Het
Mug1	A	G	6: 121,856,291	N285S	probably benign	Het
Nalcn	T	C	14: 123,281,145	T1661A	probably benign	Het
Ncoa6	G	A	2: 155,406,159	R1742*	probably null	Het
Nln	T	A	13: 104,037,369	H548L	probably damaging	Het
Nrros	C	T	16: 32,144,157	W311*	probably null	Het
Olfr457	A	T	6: 42,472,051	N42K	probably damaging	Het
Olfr688	T	A	7: 105,288,186	I31N	probably benign	Het
Pgm5	T	C	19: 24,733,563	Y425C	probably damaging	Het
Pld2	A	G	11: 70,542,960	D242G	probably damaging	Het
Plekhm1	A	G	11: 103,397,025		probably null	Het
Ptdss1	T	C	13: 66,976,817		probably benign	Het
Pyroxd2	G	T	19: 42,733,770	L415I	probably benign	Het
Rapgef6	A	G	11: 54,631,249	T291A	probably damaging	Het
Rb1	A	G	14: 73,280,252	I238T	probably benign	Het
Rp1	G	A	1: 4,348,352	H846Y	probably damaging	Het
Rpgrip1	T	A	14: 52,136,622		probably null	Het
Scaf4	T	C	16: 90,252,425	D258G	unknown	Het
Ska1	A	T	18: 74,206,849	C9S	probably benign	Het
Skp2	C	A	15: 9,113,698	G376C	probably damaging	Het
Slc43a1	G	A	2: 84,849,831	R107Q	probably damaging	Het
Slc44a3	T	A	3: 121,525,670	N141Y	probably damaging	Het
Slit1	A	T	19: 41,637,483	D613E	probably benign	Het
Spata22	A	T	11: 73,340,253	Y111F	probably benign	Het
Tchh	C	A	3: 93,443,918	R222S	unknown	Het
Tekt3	A	G	11: 63,094,697	D443G	possibly damaging	Het
Tns2	A	T	15: 102,107,119	Q144L	possibly damaging	Het
Troap	T	C	15: 99,078,817	V274A	possibly damaging	Het
Ugt1a8	A	G	1: 88,088,273	Y136C	probably damaging	Het
Vmn2r23	A	T	6: 123,741,499	M604L	probably benign	Het
Vps13b	T	A	15: 35,597,493	W1060R	probably damaging	Het
Wdfy3	A	G	5: 101,895,060	S1942P	probably damaging	Het
Wdr90	G	A	17: 25,846,603	T1596I	probably damaging	Het
Zc3h4	A	G	7: 16,416,940	E69G	possibly damaging	Het

Other mutations in Mecom

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01978:Mecom	APN	3	29963166	missense	probably damaging	0.99
IGL02800:Mecom	APN	3	29961034	missense	probably damaging	1.00
IGL03052:Mecom	APN	3	29960963	splice site	probably benign
IGL03237:Mecom	APN	3	29956499	intron	probably benign
R0004:Mecom	UTSW	3	29979911	missense	probably damaging	1.00
R0299:Mecom	UTSW	3	29980411	missense	probably benign	0.41
R0324:Mecom	UTSW	3	29963112	missense	probably damaging	0.99
R0485:Mecom	UTSW	3	29980972	intron	probably benign
R0696:Mecom	UTSW	3	29956389	missense	probably benign	0.01
R1322:Mecom	UTSW	3	29957373	missense	probably damaging	0.98
R1396:Mecom	UTSW	3	29979800	missense	possibly damaging	0.50
R1419:Mecom	UTSW	3	29980889	missense	probably damaging	1.00
R1469:Mecom	UTSW	3	29980048	missense	probably damaging	1.00
R1469:Mecom	UTSW	3	29980048	missense	probably damaging	1.00
R1487:Mecom	UTSW	3	29980064	missense	probably damaging	1.00
R1620:Mecom	UTSW	3	29987088	missense	probably damaging	1.00
R1867:Mecom	UTSW	3	30509428	critical splice donor site	probably null
R1876:Mecom	UTSW	3	29993658	missense	probably damaging	1.00
R1922:Mecom	UTSW	3	29957442	missense	probably damaging	0.99
R2044:Mecom	UTSW	3	29980592	missense	probably damaging	1.00
R2116:Mecom	UTSW	3	29965458	missense	probably damaging	1.00
R3500:Mecom	UTSW	3	29980912	missense	probably damaging	1.00
R4348:Mecom	UTSW	3	29966738	missense	possibly damaging	0.72
R4350:Mecom	UTSW	3	29966738	missense	possibly damaging	0.72
R4351:Mecom	UTSW	3	29966738	missense	possibly damaging	0.72
R4352:Mecom	UTSW	3	29966738	missense	possibly damaging	0.72
R4353:Mecom	UTSW	3	29966738	missense	possibly damaging	0.72
R4358:Mecom	UTSW	3	29979785	nonsense	probably null
R4370:Mecom	UTSW	3	29957355	missense	probably damaging	1.00
R4380:Mecom	UTSW	3	29987070	missense	probably damaging	1.00
R4676:Mecom	UTSW	3	30268668	intron	probably benign
R4690:Mecom	UTSW	3	30238310	missense	probably benign	0.01
R4750:Mecom	UTSW	3	29957530	missense	probably damaging	0.97
R4812:Mecom	UTSW	3	30140368	start codon destroyed	probably null
R4821:Mecom	UTSW	3	29985351	missense	probably damaging	1.00
R4986:Mecom	UTSW	3	29980699	missense	probably damaging	0.99
R5020:Mecom	UTSW	3	29961106	missense	probably damaging	1.00
R5099:Mecom	UTSW	3	29985316	intron	probably benign
R5410:Mecom	UTSW	3	29997721	missense	probably benign	0.01
R5415:Mecom	UTSW	3	29957526	missense	possibly damaging	0.93
R5556:Mecom	UTSW	3	30238100	missense	probably damaging	1.00
R5811:Mecom	UTSW	3	29961000	missense	probably benign	0.00
R5955:Mecom	UTSW	3	29961046	missense	probably damaging	1.00
R6153:Mecom	UTSW	3	29993648	missense	possibly damaging	0.92
R6321:Mecom	UTSW	3	29980592	missense	probably damaging	1.00
R6335:Mecom	UTSW	3	29980756	missense	probably damaging	1.00
R6383:Mecom	UTSW	3	29997726	missense	probably damaging	1.00
R6435:Mecom	UTSW	3	29980249	missense	probably damaging	1.00
R6468:Mecom	UTSW	3	30140386	intron	probably benign
R6476:Mecom	UTSW	3	29980568	missense	possibly damaging	0.70
R6673:Mecom	UTSW	3	29980702	missense	probably benign	0.09
R6721:Mecom	UTSW	3	29979874	missense	probably damaging	1.00
R7071:Mecom	UTSW	3	29980708	missense	probably damaging	1.00
R7095:Mecom	UTSW	3	29980954	missense	probably damaging	1.00
R7131:Mecom	UTSW	3	29980945	missense	probably damaging	1.00
R7247:Mecom	UTSW	3	30140356	missense	unknown
R7265:Mecom	UTSW	3	29980133	missense	possibly damaging	0.65
R7556:Mecom	UTSW	3	29987071	missense	probably benign	0.01
R7599:Mecom	UTSW	3	29956385	missense	probably damaging	0.96
R7609:Mecom	UTSW	3	29956442	missense	probably damaging	0.99
R7844:Mecom	UTSW	3	30009824	missense	unknown
R8047:Mecom	UTSW	3	30238255	missense
R8070:Mecom	UTSW	3	29979838	missense	probably damaging	1.00
R8316:Mecom	UTSW	3	29957380	missense	probably benign	0.01
R8351:Mecom	UTSW	3	29985370	missense	probably benign	0.00
R8451:Mecom	UTSW	3	29985370	missense	probably benign	0.00
R8757:Mecom	UTSW	3	30238119	missense
R8890:Mecom	UTSW	3	29952733	missense	probably damaging	1.00
R8982:Mecom	UTSW	3	29963106	missense	probably damaging	1.00
R9003:Mecom	UTSW	3	29980490	missense	probably benign	0.00
R9328:Mecom	UTSW	3	30009845	missense	unknown
R9425:Mecom	UTSW	3	29985448	missense	probably benign	0.00
R9508:Mecom	UTSW	3	29956472	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAGGGTTATAAGGCATCCTGC -3'
(R):5'- GGTGAGCACTGATTTTATGCC -3'

Sequencing Primer
(F):5'- GGTTATAAGGCATCCTGCTCAGC -3'
(R):5'- CACGTCTAATACCTGTGGAT -3'

Posted On

2014-09-18