Mutagenetix > Incidental Mutation

Incidental Mutation 'R7599:Mecom'

587884

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7599 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29951296-30548008 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29956385 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 648 (D648G)

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: D972G

SMART Domains

Protein: ENSMUSP00000103905
Gene: ENSMUSG00000027684
AA Change: D972G

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: D725G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103906
Gene: ENSMUSG00000027684
AA Change: D725G

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 damaging
Transcript: ENSMUST00000172694
AA Change: D648G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134303
Gene: ENSMUSG00000027684
AA Change: D648G

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

SMART Domains

Protein: ENSMUSP00000133310
Gene: ENSMUSG00000027684
AA Change: D772G

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: D981G

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134626
Gene: ENSMUSG00000027684
AA Change: D981G

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016F16Rik	T	A	13: 58,381,835	H321L	probably damaging	Het
Adamts3	T	C	5: 89,861,397	S136G	probably benign	Het
Apba3	T	A	10: 81,272,346	N445K	probably damaging	Het
Aqp6	A	G	15: 99,603,771	K237E	possibly damaging	Het
Arhgap23	A	G	11: 97,500,343	T1229A	probably benign	Het
Bpifb1	T	C	2: 154,214,151	I379T	probably damaging	Het
Ccdc169	A	G	3: 55,140,109	D7G	probably damaging	Het
Cyp2f2	T	A	7: 27,131,359		probably null	Het
Daam2	T	A	17: 49,480,727	K453*	probably null	Het
Dennd4c	T	C	4: 86,811,612	L817P	probably damaging	Het
Efcab6	T	A	15: 83,870,988	R1376W	probably damaging	Het
Esrra	G	T	19: 6,913,846	A182E	possibly damaging	Het
Fam234b	T	A	6: 135,226,876	V392E	probably damaging	Het
Fanca	A	G	8: 123,271,260	V1229A	probably benign	Het
Fdps	G	T	3: 89,099,386	Q66K	probably benign	Het
Fer1l6	T	A	15: 58,627,589	D1269E	probably benign	Het
Foxred1	G	A	9: 35,205,636	R353W	probably damaging	Het
Gabrg2	C	T	11: 41,967,624	V226I	possibly damaging	Het
Gcnt2	C	A	13: 40,860,867	C171*	probably null	Het
Glyat	C	A	19: 12,639,808	A8E	probably damaging	Het
Golgb1	C	A	16: 36,875,396	R86S	unknown	Het
Hc	T	A	2: 35,050,419	T136S	probably damaging	Het
Hdac1	G	T	4: 129,517,466	S421*	probably null	Het
Hmcn2	G	T	2: 31,356,286	A756S	possibly damaging	Het
Igkv8-26	A	G	6: 70,193,587	N54S	probably benign	Het
Impad1	G	A	4: 4,778,207	T177I	probably damaging	Het
Itgae	T	A	11: 73,121,960	V706E	possibly damaging	Het
Itgax	G	A	7: 128,148,090	V992M	probably damaging	Het
Klk10	A	G	7: 43,784,427	D221G	probably benign	Het
Klkb1	T	C	8: 45,278,113	I205V	probably benign	Het
Kpna2	T	C	11: 106,998,757	N8S	probably null	Het
L3mbtl1	A	C	2: 162,964,514	T442P	possibly damaging	Het
Lrp1b	C	T	2: 40,661,549	C4181Y		Het
Mcat	T	C	15: 83,547,671	Y332C	probably damaging	Het
Mesp2	A	T	7: 79,810,969	D14V	probably damaging	Het
Mlh3	A	T	12: 85,268,199	Y404*	probably null	Het
Mterf3	A	T	13: 66,917,148	F230I	probably damaging	Het
Nrxn3	T	C	12: 89,512,062	V602A	probably benign	Het
Olfr1247	T	A	2: 89,609,227	I292F	possibly damaging	Het
Plekhg6	A	G	6: 125,374,660	F209L	probably damaging	Het
Pmp22	C	A	11: 63,158,348	A139D	probably damaging	Het
Polr2e	T	C	10: 80,038,570	D34G	possibly damaging	Het
Ppard	T	A	17: 28,297,117	L105H	probably damaging	Het
Ptpn14	T	A	1: 189,850,745	D596E	probably benign	Het
Ptprz1	C	T	6: 23,002,519	A1536V	not run	Het
Rabgap1	TGGGG	TGGG	2: 37,502,896		probably null	Het
Retreg1	T	A	15: 25,971,641	D222E	probably benign	Het
Rmnd1	T	C	10: 4,413,404	K282R	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Sall3	C	T	18: 80,972,052	R887H	possibly damaging	Het
Samd3	A	G	10: 26,263,813	D281G	probably benign	Het
Scube1	T	A	15: 83,613,452	D766V	probably damaging	Het
Sec24b	TGC	TGCAGC	3: 130,040,811		probably benign	Het
Slc2a2	A	G	3: 28,698,017	M1V	probably null	Het
Slc39a2	A	T	14: 51,895,031	T144S	probably benign	Het
Slc5a9	T	C	4: 111,877,740	H619R	probably benign	Het
Slco4a1	T	C	2: 180,471,255	F427L	probably benign	Het
Snapc3	C	A	4: 83,417,836	Y28*	probably null	Het
St3gal6	C	T	16: 58,473,437	R243H	probably benign	Het
Stat2	T	A	10: 128,277,197	N119K	possibly damaging	Het
Syne2	G	C	12: 75,966,371	V2779L	probably benign	Het
Tacc1	T	A	8: 25,201,285	M1L	probably damaging	Het
Tbc1d32	A	T	10: 56,151,833	F724L	possibly damaging	Het
Ttc23l	A	G	15: 10,533,680	I259T	possibly damaging	Het
Ucn2	T	C	9: 108,986,224	I18T	probably benign	Het
Wdr35	G	C	12: 9,024,886	A1000P	probably benign	Het
Wnk1	C	A	6: 119,929,828	C244F	possibly damaging	Het
Zeb2	T	G	2: 44,994,613	D1022A	probably damaging	Het
Zfp26	A	T	9: 20,437,833	H478Q	probably damaging	Het
Zfp410	A	G	12: 84,331,856	K265R	probably benign	Het
Zfp575	T	C	7: 24,586,668	D21G	probably benign	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
R2087:Mecom	UTSW	3	29952814	missense	probably benign	0.01
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
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
R9681:Mecom	UTSW	3	29979654	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- ATGCTGCAAGGTGACCATATTTG -3'
(R):5'- TTGCATGCTACTTGACACAAC -3'

Sequencing Primer
(F):5'- CTGCAAGGTGACCATATTTGCTTAG -3'
(R):5'- TGCATGCTACTTGACACAACAAATG -3'

Posted On

2019-10-24