Incidental Mutation 'R0218:Mcc'
ID |
33691 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mcc
|
Ensembl Gene |
ENSMUSG00000071856 |
Gene Name |
mutated in colorectal cancers |
Synonyms |
D18Ertd451e |
MMRRC Submission |
038467-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0218 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
44558127-44945249 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site |
DNA Base Change (assembly) |
C to G
at 44652583 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128032
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089874]
[ENSMUST00000089874]
[ENSMUST00000164666]
[ENSMUST00000164666]
|
AlphaFold |
E9PWI3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089874
|
SMART Domains |
Protein: ENSMUSP00000087318 Gene: ENSMUSG00000071856
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 benign
Transcript: ENSMUST00000089874
|
SMART Domains |
Protein: ENSMUSP00000087318 Gene: ENSMUSG00000071856
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 benign
Transcript: ENSMUST00000164666
|
SMART Domains |
Protein: ENSMUSP00000128032 Gene: ENSMUSG00000071856
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164666
|
SMART Domains |
Protein: ENSMUSP00000128032 Gene: ENSMUSG00000071856
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202090
|
Meta Mutation Damage Score |
0.1325 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
Validation Efficiency |
98% (53/54) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
T |
G |
8: 44,079,477 (GRCm39) |
Q249P |
probably benign |
Het |
Adgrv1 |
C |
T |
13: 81,255,017 (GRCm39) |
|
probably null |
Het |
Ccdc110 |
A |
G |
8: 46,387,761 (GRCm39) |
|
probably benign |
Het |
Cd200r1 |
T |
A |
16: 44,609,106 (GRCm39) |
|
probably benign |
Het |
Cdkl1 |
A |
T |
12: 69,836,809 (GRCm39) |
D40E |
probably benign |
Het |
Cdx1 |
A |
G |
18: 61,153,436 (GRCm39) |
|
probably benign |
Het |
Cenpp |
T |
A |
13: 49,801,108 (GRCm39) |
K103N |
possibly damaging |
Het |
Cep162 |
A |
G |
9: 87,093,862 (GRCm39) |
Y839H |
possibly damaging |
Het |
Chac1 |
T |
A |
2: 119,183,941 (GRCm39) |
L181* |
probably null |
Het |
Ciapin1 |
G |
T |
8: 95,554,938 (GRCm39) |
Q173K |
probably damaging |
Het |
Cmklr2 |
T |
A |
1: 63,222,690 (GRCm39) |
N182Y |
probably benign |
Het |
Dgcr2 |
A |
G |
16: 17,667,650 (GRCm39) |
C270R |
probably damaging |
Het |
Dlc1 |
A |
G |
8: 37,317,383 (GRCm39) |
S431P |
probably benign |
Het |
Efcab12 |
T |
C |
6: 115,791,611 (GRCm39) |
|
probably benign |
Het |
Ehbp1 |
A |
T |
11: 22,181,992 (GRCm39) |
|
probably benign |
Het |
Enpp3 |
A |
T |
10: 24,652,767 (GRCm39) |
V730D |
possibly damaging |
Het |
Fam174b |
A |
G |
7: 73,390,512 (GRCm39) |
T88A |
probably benign |
Het |
Fancl |
A |
G |
11: 26,421,337 (GRCm39) |
K364E |
probably benign |
Het |
Fbp2 |
A |
T |
13: 63,001,862 (GRCm39) |
F118I |
probably damaging |
Het |
Galc |
A |
G |
12: 98,188,906 (GRCm39) |
Y402H |
probably damaging |
Het |
Gga2 |
T |
C |
7: 121,598,123 (GRCm39) |
N324D |
possibly damaging |
Het |
Hc |
G |
T |
2: 34,918,086 (GRCm39) |
F732L |
probably damaging |
Het |
Heca |
T |
C |
10: 17,791,463 (GRCm39) |
M198V |
probably benign |
Het |
Herc6 |
C |
A |
6: 57,596,586 (GRCm39) |
H509N |
probably benign |
Het |
Irf2bpl |
A |
T |
12: 86,929,398 (GRCm39) |
M425K |
probably benign |
Het |
Mael |
C |
T |
1: 166,066,159 (GRCm39) |
G26D |
probably damaging |
Het |
Map1a |
A |
G |
2: 121,135,906 (GRCm39) |
T2241A |
probably benign |
Het |
Mdga2 |
A |
G |
12: 66,701,894 (GRCm39) |
S505P |
probably damaging |
Het |
Mdm1 |
A |
G |
10: 117,992,783 (GRCm39) |
|
probably benign |
Het |
Mex3b |
A |
T |
7: 82,518,312 (GRCm39) |
E209V |
probably damaging |
Het |
Mrgprx3-ps |
T |
C |
7: 46,959,154 (GRCm39) |
E279G |
possibly damaging |
Het |
Ms4a20 |
A |
T |
19: 11,093,801 (GRCm39) |
Y10* |
probably null |
Het |
Nfe2l1 |
A |
T |
11: 96,718,439 (GRCm39) |
L32Q |
probably damaging |
Het |
Npas1 |
C |
T |
7: 16,195,818 (GRCm39) |
V285I |
probably benign |
Het |
Or5e1 |
T |
A |
7: 108,354,781 (GRCm39) |
C239* |
probably null |
Het |
Or5h19 |
C |
T |
16: 58,856,456 (GRCm39) |
V215I |
probably benign |
Het |
Or9i14 |
T |
C |
19: 13,792,342 (GRCm39) |
N204S |
probably benign |
Het |
Osr1 |
A |
G |
12: 9,629,639 (GRCm39) |
T171A |
probably benign |
Het |
Ppp3cb |
A |
T |
14: 20,574,044 (GRCm39) |
C265S |
probably damaging |
Het |
Pramel27 |
A |
G |
4: 143,578,401 (GRCm39) |
I220M |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Simc1 |
T |
C |
13: 54,674,417 (GRCm39) |
Y922H |
probably damaging |
Het |
Slc25a39 |
A |
G |
11: 102,297,056 (GRCm39) |
F56L |
probably benign |
Het |
Smg8 |
A |
G |
11: 86,976,948 (GRCm39) |
L211P |
probably damaging |
Het |
Sncaip |
A |
G |
18: 53,040,400 (GRCm39) |
S805G |
probably benign |
Het |
Sra1 |
T |
C |
18: 36,809,662 (GRCm39) |
|
probably benign |
Het |
Tas2r104 |
T |
G |
6: 131,662,055 (GRCm39) |
D218A |
probably damaging |
Het |
Unc45b |
A |
G |
11: 82,802,686 (GRCm39) |
|
probably benign |
Het |
Unc79 |
A |
G |
12: 103,075,040 (GRCm39) |
|
probably null |
Het |
Washc2 |
T |
A |
6: 116,225,007 (GRCm39) |
L785* |
probably null |
Het |
Zfp30 |
A |
G |
7: 29,493,063 (GRCm39) |
E439G |
probably damaging |
Het |
Zfp518a |
A |
G |
19: 40,901,072 (GRCm39) |
T334A |
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 |
|
R0243:Mcc
|
UTSW |
18 |
44,892,366 (GRCm39) |
missense |
probably benign |
|
R0373:Mcc
|
UTSW |
18 |
44,608,289 (GRCm39) |
missense |
probably benign |
0.01 |
R0564:Mcc
|
UTSW |
18 |
44,601,574 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
PCR Primer
(F):5'- AAAGGCATCAGACTGTTGTCTGTCTC -3'
(R):5'- ACATAACCACATGTCCATCTTGTGCTC -3'
Sequencing Primer
(F):5'- GGGCATTCGCCTAGAACTTG -3'
(R):5'- GTCCATCTTGTGCTCTGTGTTC -3'
|
Posted On |
2013-05-09 |