Incidental Mutation 'R8047:Mecom'
| ID |
618799 |
| 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 |
067484-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8047 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
30005445-30563937 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30292404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 35
(D35V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061088]
[ENSMUST00000172697]
[ENSMUST00000172754]
[ENSMUST00000173495]
[ENSMUST00000173899]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061088
AA Change: D22V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000051057
Gene: ENSMUSG00000027684
AA Change: D22V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
67 |
N/A |
INTRINSIC |
|
Blast:SET
|
68 |
115 |
3e-27 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172697
AA Change: D35V
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000134117
Gene: ENSMUSG00000027684
AA Change: D35V
| 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 |
probably benign
Transcript: ENSMUST00000172754
|
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000133410
Gene: ENSMUSG00000027684
AA Change: D35V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abce1 |
G |
A |
8: 80,427,817 (GRCm39) |
T157I |
possibly damaging |
Het |
| Cd200l2 |
T |
C |
16: 45,340,829 (GRCm39) |
I245V |
probably benign |
Het |
| Cdh22 |
G |
A |
2: 165,012,687 (GRCm39) |
R133W |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,406,247 (GRCm39) |
N1428K |
probably benign |
Het |
| Clstn3 |
T |
A |
6: 124,408,972 (GRCm39) |
D892V |
possibly damaging |
Het |
| Coch |
G |
A |
12: 51,650,496 (GRCm39) |
|
probably null |
Het |
| D6Ertd527e |
G |
T |
6: 87,088,454 (GRCm39) |
V206F |
unknown |
Het |
| Dnaaf9 |
A |
T |
2: 130,617,019 (GRCm39) |
V439E |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,870,208 (GRCm39) |
I625M |
possibly damaging |
Het |
| Dpy19l4 |
A |
G |
4: 11,317,139 (GRCm39) |
S20P |
probably benign |
Het |
| Eef1e1 |
T |
C |
13: 38,830,222 (GRCm39) |
Q150R |
probably damaging |
Het |
| Eln |
CTCCAGCTCCGAT |
C |
5: 134,758,003 (GRCm39) |
|
probably benign |
Het |
| Engase |
T |
C |
11: 118,377,282 (GRCm39) |
S526P |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,790,231 (GRCm39) |
D293V |
probably damaging |
Het |
| Gipc3 |
T |
A |
10: 81,177,132 (GRCm39) |
N146I |
probably damaging |
Het |
| Gm11569 |
T |
C |
11: 99,689,616 (GRCm39) |
T28A |
unknown |
Het |
| Gm43302 |
T |
C |
5: 105,422,623 (GRCm39) |
I470V |
possibly damaging |
Het |
| Gpihbp1 |
A |
G |
15: 75,469,627 (GRCm39) |
Q114R |
possibly damaging |
Het |
| Grhl2 |
T |
A |
15: 37,336,465 (GRCm39) |
M454K |
probably benign |
Het |
| Gsap |
A |
T |
5: 21,462,866 (GRCm39) |
|
probably null |
Het |
| Ighv6-5 |
T |
C |
12: 114,380,191 (GRCm39) |
|
probably null |
Het |
| Kif1b |
C |
A |
4: 149,299,379 (GRCm39) |
V1010L |
probably damaging |
Het |
| Krt8 |
A |
T |
15: 101,912,406 (GRCm39) |
I90N |
probably damaging |
Het |
| Lrrc69 |
A |
T |
4: 14,773,726 (GRCm39) |
I110N |
probably benign |
Het |
| Lta |
T |
C |
17: 35,423,011 (GRCm39) |
Y104C |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,009,546 (GRCm39) |
Y13H |
probably damaging |
Het |
| Mccc2 |
C |
T |
13: 100,091,181 (GRCm39) |
V439I |
probably benign |
Het |
| Msra |
C |
T |
14: 64,522,612 (GRCm39) |
A76T |
probably damaging |
Het |
| Myo18b |
G |
T |
5: 112,871,681 (GRCm39) |
D2133E |
possibly damaging |
Het |
| Ncapd2 |
C |
T |
6: 125,166,762 (GRCm39) |
V31M |
probably damaging |
Het |
| Npc1 |
A |
G |
18: 12,346,374 (GRCm39) |
V274A |
probably benign |
Het |
| Or5m11b |
T |
C |
2: 85,806,271 (GRCm39) |
I228T |
possibly damaging |
Het |
| Patz1 |
C |
T |
11: 3,256,283 (GRCm39) |
P523L |
probably benign |
Het |
| Pbx2 |
T |
C |
17: 34,814,262 (GRCm39) |
S350P |
probably benign |
Het |
| Plk4 |
T |
C |
3: 40,760,187 (GRCm39) |
I361T |
probably benign |
Het |
| Ppat |
G |
T |
5: 77,073,557 (GRCm39) |
N122K |
probably damaging |
Het |
| Prss23 |
T |
A |
7: 89,159,136 (GRCm39) |
Q311L |
probably damaging |
Het |
| Psg26 |
G |
T |
7: 18,212,474 (GRCm39) |
Q294K |
possibly damaging |
Het |
| Rab3il1 |
G |
T |
19: 10,011,166 (GRCm39) |
R285L |
probably benign |
Het |
| Radil |
A |
G |
5: 142,480,695 (GRCm39) |
C587R |
probably damaging |
Het |
| Rd3 |
A |
T |
1: 191,709,620 (GRCm39) |
|
probably benign |
Het |
| Reck |
T |
C |
4: 43,927,221 (GRCm39) |
L504P |
probably damaging |
Het |
| Rmc1 |
C |
T |
18: 12,313,586 (GRCm39) |
T233M |
possibly damaging |
Het |
| Selenov |
A |
C |
7: 27,990,108 (GRCm39) |
L132R |
probably benign |
Het |
| Spag16 |
A |
T |
1: 69,882,155 (GRCm39) |
D49V |
probably damaging |
Het |
| Ston2 |
C |
T |
12: 91,608,617 (GRCm39) |
V828I |
probably damaging |
Het |
| Tiam1 |
A |
G |
16: 89,694,672 (GRCm39) |
S262P |
probably benign |
Het |
| Tlnrd1 |
A |
T |
7: 83,532,069 (GRCm39) |
S121T |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,719,636 (GRCm39) |
K1011* |
probably null |
Het |
| Vmn2r89 |
T |
A |
14: 51,692,549 (GRCm39) |
D117E |
probably benign |
Het |
| Zbtb7c |
A |
C |
18: 76,270,221 (GRCm39) |
N103T |
probably damaging |
Het |
| Zfp764 |
T |
C |
7: 127,005,412 (GRCm39) |
E75G |
probably damaging |
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 |
|
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 |
|
|
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'- TGTATGGCCCAAACTTTTCGC -3'
(R):5'- CTCTGTTGTGCTTGCAATGAAC -3'
Sequencing Primer
(F):5'- GGTCCATATTCCAAGTCCTGC -3'
(R):5'- GAACAACTTACTACGGGTTGCTGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation