Mutagenetix > Incidental Mutation

Incidental Mutation 'R1322:Mecom'

157703

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

039388-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1322 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30005445-30563937 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 30011522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 670 (P670Q)

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: P917Q

SMART Domains

Protein: ENSMUSP00000103905
Gene: ENSMUSG00000027684
AA Change: P917Q

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: P670Q

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103906
Gene: ENSMUSG00000027684
AA Change: P670Q

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: P926Q

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000128563
Gene: ENSMUSG00000027684
AA Change: P926Q

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: P593Q

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134303
Gene: ENSMUSG00000027684
AA Change: P593Q

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: P717Q

SMART Domains

Protein: ENSMUSP00000133310
Gene: ENSMUSG00000027684
AA Change: P717Q

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: P926Q

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000134626
Gene: ENSMUSG00000027684
AA Change: P926Q

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: ENSMUST00000174413
AA Change: P582Q

SMART Domains

Protein: ENSMUSP00000134278
Gene: ENSMUSG00000027684
AA Change: P582Q

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: 99.0%
3x: 98.1%
10x: 95.9%
20x: 92.5%

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	C	T	15: 81,779,394 (GRCm39)	S33L	probably damaging	Het
Col27a1	A	C	4: 63,246,803 (GRCm39)		probably benign	Het
Fam184a	G	T	10: 53,528,415 (GRCm39)	D815E	probably damaging	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Gpr162	G	T	6: 124,835,864 (GRCm39)	T512K	probably damaging	Het
Hipk1	A	T	3: 103,651,297 (GRCm39)	S1155R	probably damaging	Het
Itih2	A	G	2: 10,114,333 (GRCm39)	V417A	probably damaging	Het
Kmt2a	A	G	9: 44,732,418 (GRCm39)		probably benign	Het
Mgat4d	A	G	8: 84,092,354 (GRCm39)	T247A	possibly damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Or7g18	T	C	9: 18,786,817 (GRCm39)	F65L	possibly damaging	Het
Polr1c	T	C	17: 46,555,089 (GRCm39)	K327R	possibly damaging	Het
Prpf39	A	T	12: 65,089,436 (GRCm39)	N58I	possibly damaging	Het
Sh3bp2	T	A	5: 34,712,837 (GRCm39)	N92K	probably damaging	Het
Sppl3	TGG	TG	5: 115,226,352 (GRCm39)		probably null	Het
Tnc	C	T	4: 63,932,231 (GRCm39)	V728M	probably damaging	Het
Trgc3	T	C	13: 19,445,364 (GRCm39)	F104S	probably benign	Het
Vmn2r88	T	G	14: 51,651,565 (GRCm39)	I293S	probably damaging	Het
Zfp251	C	T	15: 76,738,436 (GRCm39)	R219Q	possibly damaging	Het
Zfp930	A	G	8: 69,680,820 (GRCm39)	T171A	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
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
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

Predicted Primers

PCR Primer
(F):5'- AACACATTCTTCCAGTAGCCGAGC -3'
(R):5'- CTTGCTAGGGAGATGAGCTAACAGC -3'

Sequencing Primer
(F):5'- GTAGCCGAGCGGAGCAG -3'
(R):5'- TCAAGCCAGTAATTGGTCCG -3'

Posted On

2014-02-18