Incidental Mutation 'R0564:Mcc'
ID |
46096 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mcc
|
Ensembl Gene |
ENSMUSG00000071856 |
Gene Name |
mutated in colorectal cancers |
Synonyms |
D18Ertd451e |
MMRRC Submission |
038755-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0564 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
44558127-44945249 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44601574 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 410
(L410P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128032
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089874]
[ENSMUST00000164666]
|
AlphaFold |
E9PWI3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000089874
AA Change: L585P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000087318 Gene: ENSMUSG00000071856 AA Change: L585P
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
23 |
N/A |
INTRINSIC |
EFh
|
24 |
52 |
1.36e-3 |
SMART |
EFh
|
57 |
85 |
7.36e0 |
SMART |
coiled coil region
|
196 |
308 |
N/A |
INTRINSIC |
coiled coil region
|
395 |
466 |
N/A |
INTRINSIC |
low complexity region
|
488 |
493 |
N/A |
INTRINSIC |
low complexity region
|
512 |
517 |
N/A |
INTRINSIC |
low complexity region
|
523 |
537 |
N/A |
INTRINSIC |
Pfam:MCC-bdg_PDZ
|
577 |
641 |
2.6e-32 |
PFAM |
low complexity region
|
715 |
731 |
N/A |
INTRINSIC |
coiled coil region
|
738 |
834 |
N/A |
INTRINSIC |
low complexity region
|
853 |
863 |
N/A |
INTRINSIC |
Pfam:MCC-bdg_PDZ
|
906 |
972 |
1.1e-21 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164666
AA Change: L410P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000128032 Gene: ENSMUSG00000071856 AA Change: L410P
Domain | Start | End | E-Value | Type |
coiled coil region
|
21 |
133 |
N/A |
INTRINSIC |
Pfam:MCC-bdg_PDZ
|
233 |
289 |
1.2e-14 |
PFAM |
low complexity region
|
313 |
318 |
N/A |
INTRINSIC |
low complexity region
|
337 |
342 |
N/A |
INTRINSIC |
low complexity region
|
348 |
362 |
N/A |
INTRINSIC |
Pfam:MCC-bdg_PDZ
|
401 |
467 |
3.8e-32 |
PFAM |
low complexity region
|
540 |
556 |
N/A |
INTRINSIC |
coiled coil region
|
563 |
659 |
N/A |
INTRINSIC |
low complexity region
|
678 |
688 |
N/A |
INTRINSIC |
Pfam:MCC-bdg_PDZ
|
730 |
798 |
1.3e-27 |
PFAM |
|
Meta Mutation Damage Score |
0.3823 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
Validation Efficiency |
98% (52/53) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle progression. The orthologous gene in the mouse expresses a phosphoprotein associated with the plasma membrane and membrane organelles, and overexpression of the mouse protein inhibits entry into S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for hypomorphic or null mutations are viable and fertile with no gross abnormalities. [provided by MGI curators]
|
Allele List at MGI |
All alleles(29) : Targeted(2) Gene trapped(27)
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl5 |
A |
G |
10: 80,180,681 (GRCm39) |
V127A |
probably damaging |
Het |
Alox12 |
T |
A |
11: 70,143,662 (GRCm39) |
D202V |
probably damaging |
Het |
Ankib1 |
A |
G |
5: 3,779,655 (GRCm39) |
Y405H |
probably damaging |
Het |
Apbb2 |
A |
T |
5: 66,609,593 (GRCm39) |
M18K |
probably damaging |
Het |
Atad2 |
C |
A |
15: 57,989,229 (GRCm39) |
|
probably benign |
Het |
Birc6 |
T |
A |
17: 74,932,238 (GRCm39) |
|
probably benign |
Het |
Ccdc126 |
T |
C |
6: 49,311,076 (GRCm39) |
M28T |
possibly damaging |
Het |
Cdc16 |
A |
T |
8: 13,831,618 (GRCm39) |
D617V |
probably damaging |
Het |
Cep135 |
G |
A |
5: 76,763,557 (GRCm39) |
E516K |
probably damaging |
Het |
Cep135 |
G |
T |
5: 76,786,796 (GRCm39) |
M1081I |
probably benign |
Het |
Col6a3 |
A |
C |
1: 90,735,456 (GRCm39) |
V731G |
probably damaging |
Het |
Cstdc6 |
A |
T |
16: 36,143,346 (GRCm39) |
Y34* |
probably null |
Het |
Cwc27 |
C |
A |
13: 104,797,865 (GRCm39) |
E365* |
probably null |
Het |
Dip2b |
C |
A |
15: 100,060,600 (GRCm39) |
Y258* |
probably null |
Het |
Dnah17 |
A |
G |
11: 117,973,807 (GRCm39) |
V1900A |
probably damaging |
Het |
Dpysl2 |
A |
T |
14: 67,042,895 (GRCm39) |
|
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,139,432 (GRCm39) |
L1401Q |
probably damaging |
Het |
Esf1 |
A |
T |
2: 140,000,506 (GRCm39) |
Y427N |
possibly damaging |
Het |
Fbln1 |
T |
A |
15: 85,111,308 (GRCm39) |
V154D |
probably benign |
Het |
Frem2 |
A |
G |
3: 53,563,530 (GRCm39) |
F326L |
probably damaging |
Het |
Gm4922 |
T |
A |
10: 18,659,813 (GRCm39) |
N303I |
possibly damaging |
Het |
H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
Iigp1 |
G |
A |
18: 60,523,523 (GRCm39) |
V214M |
probably damaging |
Het |
Luzp2 |
A |
G |
7: 54,485,710 (GRCm39) |
K2E |
probably damaging |
Het |
Mfn2 |
A |
G |
4: 147,967,712 (GRCm39) |
F452S |
probably damaging |
Het |
Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
Micu2 |
A |
G |
14: 58,156,831 (GRCm39) |
F335L |
possibly damaging |
Het |
Mpp3 |
T |
G |
11: 101,896,173 (GRCm39) |
K450T |
possibly damaging |
Het |
Mtmr4 |
T |
A |
11: 87,489,714 (GRCm39) |
V79E |
probably damaging |
Het |
Nlrp4b |
A |
G |
7: 10,448,585 (GRCm39) |
I263V |
probably benign |
Het |
Or52p2 |
T |
C |
7: 102,237,738 (GRCm39) |
I71V |
probably benign |
Het |
Or6c76 |
T |
G |
10: 129,612,005 (GRCm39) |
V74G |
probably damaging |
Het |
Pdk1 |
G |
A |
2: 71,710,383 (GRCm39) |
W113* |
probably null |
Het |
Phaf1 |
T |
A |
8: 105,966,603 (GRCm39) |
|
probably benign |
Het |
Phxr4 |
A |
T |
9: 13,342,993 (GRCm39) |
|
probably benign |
Het |
Rad51ap2 |
T |
A |
12: 11,507,897 (GRCm39) |
H606Q |
probably benign |
Het |
Ralgapa1 |
A |
T |
12: 55,829,670 (GRCm39) |
I187K |
possibly damaging |
Het |
Rps27 |
A |
G |
3: 90,120,230 (GRCm39) |
|
probably benign |
Het |
Sema3e |
T |
A |
5: 14,286,099 (GRCm39) |
|
probably null |
Het |
Sh2d3c |
G |
A |
2: 32,643,064 (GRCm39) |
C749Y |
probably damaging |
Het |
Siah2 |
T |
C |
3: 58,583,656 (GRCm39) |
D210G |
probably benign |
Het |
Smap2 |
G |
A |
4: 120,834,174 (GRCm39) |
P155S |
probably benign |
Het |
Snrk |
C |
T |
9: 121,995,610 (GRCm39) |
T463M |
possibly damaging |
Het |
Tm9sf3 |
A |
G |
19: 41,233,964 (GRCm39) |
|
probably benign |
Het |
Tmem132d |
C |
T |
5: 127,861,842 (GRCm39) |
E760K |
probably damaging |
Het |
Tmem184c |
A |
T |
8: 78,332,789 (GRCm39) |
|
probably null |
Het |
Tmem235 |
A |
T |
11: 117,751,674 (GRCm39) |
I33F |
possibly damaging |
Het |
Tmem267 |
A |
T |
13: 119,629,175 (GRCm39) |
|
probably null |
Het |
Top1 |
G |
A |
2: 160,556,185 (GRCm39) |
R548Q |
probably damaging |
Het |
Trio |
T |
C |
15: 27,805,908 (GRCm39) |
N527D |
probably damaging |
Het |
Upf3a |
A |
G |
8: 13,845,656 (GRCm39) |
K252E |
probably benign |
Het |
|
Other mutations in Mcc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00489:Mcc
|
APN |
18 |
44,582,283 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL00981:Mcc
|
APN |
18 |
44,582,416 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00985:Mcc
|
APN |
18 |
44,624,306 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01674:Mcc
|
APN |
18 |
44,624,223 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01862:Mcc
|
APN |
18 |
44,892,363 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01935:Mcc
|
APN |
18 |
44,652,583 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02168:Mcc
|
APN |
18 |
44,582,366 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02449:Mcc
|
APN |
18 |
44,593,025 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02613:Mcc
|
APN |
18 |
44,563,021 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02709:Mcc
|
APN |
18 |
44,578,877 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0009:Mcc
|
UTSW |
18 |
44,579,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R0009:Mcc
|
UTSW |
18 |
44,579,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R0021:Mcc
|
UTSW |
18 |
44,652,583 (GRCm39) |
critical splice donor site |
probably benign |
|
R0022:Mcc
|
UTSW |
18 |
44,652,583 (GRCm39) |
critical splice donor site |
probably benign |
|
R0062:Mcc
|
UTSW |
18 |
44,652,583 (GRCm39) |
critical splice donor site |
probably benign |
|
R0062:Mcc
|
UTSW |
18 |
44,652,583 (GRCm39) |
critical splice donor site |
probably benign |
|
R0063:Mcc
|
UTSW |
18 |
44,652,583 (GRCm39) |
critical splice donor site |
probably benign |
|
R0064:Mcc
|
UTSW |
18 |
44,652,583 (GRCm39) |
critical splice donor site |
probably benign |
|
R0217:Mcc
|
UTSW |
18 |
44,652,583 (GRCm39) |
critical splice donor site |
probably benign |
|
R0218:Mcc
|
UTSW |
18 |
44,652,583 (GRCm39) |
critical splice donor site |
probably benign |
|
R0243:Mcc
|
UTSW |
18 |
44,892,366 (GRCm39) |
missense |
probably benign |
|
R0373:Mcc
|
UTSW |
18 |
44,608,289 (GRCm39) |
missense |
probably benign |
0.01 |
R0604:Mcc
|
UTSW |
18 |
44,606,823 (GRCm39) |
missense |
probably damaging |
1.00 |
R0691:Mcc
|
UTSW |
18 |
44,578,927 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0965:Mcc
|
UTSW |
18 |
44,857,593 (GRCm39) |
missense |
probably benign |
0.41 |
R1015:Mcc
|
UTSW |
18 |
44,857,736 (GRCm39) |
missense |
probably benign |
|
R1186:Mcc
|
UTSW |
18 |
44,892,470 (GRCm39) |
missense |
probably benign |
|
R1215:Mcc
|
UTSW |
18 |
44,601,561 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1878:Mcc
|
UTSW |
18 |
44,601,467 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1990:Mcc
|
UTSW |
18 |
44,624,382 (GRCm39) |
nonsense |
probably null |
|
R1991:Mcc
|
UTSW |
18 |
44,624,382 (GRCm39) |
nonsense |
probably null |
|
R1992:Mcc
|
UTSW |
18 |
44,624,382 (GRCm39) |
nonsense |
probably null |
|
R2186:Mcc
|
UTSW |
18 |
44,945,145 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2189:Mcc
|
UTSW |
18 |
44,667,297 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2258:Mcc
|
UTSW |
18 |
44,608,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R2267:Mcc
|
UTSW |
18 |
44,652,608 (GRCm39) |
missense |
probably damaging |
0.99 |
R2310:Mcc
|
UTSW |
18 |
44,564,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R2343:Mcc
|
UTSW |
18 |
44,592,864 (GRCm39) |
critical splice donor site |
probably null |
|
R2377:Mcc
|
UTSW |
18 |
44,652,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R3110:Mcc
|
UTSW |
18 |
44,582,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R3112:Mcc
|
UTSW |
18 |
44,582,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R4135:Mcc
|
UTSW |
18 |
44,857,707 (GRCm39) |
missense |
probably benign |
0.03 |
R4404:Mcc
|
UTSW |
18 |
44,892,365 (GRCm39) |
missense |
probably benign |
|
R4600:Mcc
|
UTSW |
18 |
44,652,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R4606:Mcc
|
UTSW |
18 |
44,601,488 (GRCm39) |
missense |
probably damaging |
0.96 |
R4721:Mcc
|
UTSW |
18 |
44,652,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R5858:Mcc
|
UTSW |
18 |
44,643,208 (GRCm39) |
missense |
probably damaging |
0.98 |
R5997:Mcc
|
UTSW |
18 |
44,582,388 (GRCm39) |
missense |
probably damaging |
1.00 |
R6482:Mcc
|
UTSW |
18 |
44,578,931 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6502:Mcc
|
UTSW |
18 |
44,601,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R6502:Mcc
|
UTSW |
18 |
44,601,457 (GRCm39) |
nonsense |
probably null |
|
R6518:Mcc
|
UTSW |
18 |
44,794,878 (GRCm39) |
start gained |
probably benign |
|
R6796:Mcc
|
UTSW |
18 |
44,857,627 (GRCm39) |
missense |
probably benign |
|
R6846:Mcc
|
UTSW |
18 |
44,606,707 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6879:Mcc
|
UTSW |
18 |
44,945,179 (GRCm39) |
missense |
unknown |
|
R7147:Mcc
|
UTSW |
18 |
44,626,580 (GRCm39) |
missense |
probably damaging |
0.99 |
R7475:Mcc
|
UTSW |
18 |
44,609,303 (GRCm39) |
missense |
probably damaging |
0.98 |
R7515:Mcc
|
UTSW |
18 |
44,626,499 (GRCm39) |
missense |
probably benign |
0.02 |
R7608:Mcc
|
UTSW |
18 |
44,624,294 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8092:Mcc
|
UTSW |
18 |
44,892,299 (GRCm39) |
missense |
probably benign |
0.00 |
R8119:Mcc
|
UTSW |
18 |
44,601,500 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8162:Mcc
|
UTSW |
18 |
44,582,508 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8187:Mcc
|
UTSW |
18 |
44,667,327 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8716:Mcc
|
UTSW |
18 |
44,582,403 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8744:Mcc
|
UTSW |
18 |
44,857,639 (GRCm39) |
missense |
probably benign |
|
R9383:Mcc
|
UTSW |
18 |
44,575,985 (GRCm39) |
missense |
probably benign |
0.24 |
R9517:Mcc
|
UTSW |
18 |
44,794,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R9570:Mcc
|
UTSW |
18 |
44,578,925 (GRCm39) |
missense |
probably damaging |
0.97 |
R9590:Mcc
|
UTSW |
18 |
44,592,977 (GRCm39) |
missense |
possibly damaging |
0.93 |
X0010:Mcc
|
UTSW |
18 |
44,563,024 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1177:Mcc
|
UTSW |
18 |
44,624,313 (GRCm39) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
|
Posted On |
2013-06-11 |