Incidental Mutation 'IGL01862:Mcc'
ID |
178384 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mcc
|
Ensembl Gene |
ENSMUSG00000071856 |
Gene Name |
mutated in colorectal cancers |
Synonyms |
D18Ertd451e |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01862
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
44558127-44945249 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 44892363 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 84
(Q84K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087318
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089874]
|
AlphaFold |
E9PWI3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089874
AA Change: Q84K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000087318 Gene: ENSMUSG00000071856 AA Change: Q84K
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
G |
T |
11: 109,837,997 (GRCm39) |
S1085* |
probably null |
Het |
Akap9 |
T |
G |
5: 4,001,705 (GRCm39) |
S94A |
probably damaging |
Het |
Akap9 |
T |
A |
5: 4,115,856 (GRCm39) |
N3425K |
probably damaging |
Het |
Anapc7 |
T |
A |
5: 122,578,182 (GRCm39) |
I389N |
probably benign |
Het |
Aqp7 |
G |
A |
4: 41,045,321 (GRCm39) |
R20* |
probably null |
Het |
Cacna1h |
C |
T |
17: 25,602,457 (GRCm39) |
G1524R |
probably damaging |
Het |
Cacng4 |
T |
C |
11: 107,685,196 (GRCm39) |
Y32C |
probably damaging |
Het |
Cep120 |
A |
C |
18: 53,847,839 (GRCm39) |
S673R |
probably benign |
Het |
Cep162 |
T |
C |
9: 87,135,986 (GRCm39) |
E19G |
possibly damaging |
Het |
Cpxm2 |
C |
T |
7: 131,661,540 (GRCm39) |
V416I |
probably benign |
Het |
Dapk1 |
A |
G |
13: 60,874,424 (GRCm39) |
T427A |
probably benign |
Het |
Ecm1 |
A |
T |
3: 95,641,586 (GRCm39) |
D549E |
probably benign |
Het |
Efemp1 |
T |
A |
11: 28,871,428 (GRCm39) |
N342K |
probably damaging |
Het |
Erc2 |
T |
C |
14: 27,993,526 (GRCm39) |
|
probably benign |
Het |
Fhip2b |
C |
T |
14: 70,825,130 (GRCm39) |
R402H |
probably benign |
Het |
Galnt13 |
T |
C |
2: 54,747,926 (GRCm39) |
V269A |
probably damaging |
Het |
Gm6465 |
T |
G |
5: 11,899,020 (GRCm39) |
L171R |
probably damaging |
Het |
Gpatch1 |
A |
G |
7: 34,994,703 (GRCm39) |
V521A |
probably benign |
Het |
Heatr5b |
A |
T |
17: 79,103,914 (GRCm39) |
V1087E |
possibly damaging |
Het |
Ikzf2 |
A |
T |
1: 69,578,057 (GRCm39) |
V484D |
probably damaging |
Het |
Ints4 |
T |
A |
7: 97,190,360 (GRCm39) |
V953E |
probably damaging |
Het |
Iqce |
T |
C |
5: 140,685,480 (GRCm39) |
D15G |
possibly damaging |
Het |
Kif3a |
T |
A |
11: 53,461,368 (GRCm39) |
N4K |
possibly damaging |
Het |
Lrch4 |
A |
T |
5: 137,635,271 (GRCm39) |
I254F |
probably damaging |
Het |
Ly75 |
A |
T |
2: 60,129,516 (GRCm39) |
V1623D |
probably damaging |
Het |
Mapt |
T |
A |
11: 104,180,828 (GRCm39) |
|
probably benign |
Het |
Mast1 |
A |
T |
8: 85,639,875 (GRCm39) |
|
probably null |
Het |
Mgat4f |
G |
A |
1: 134,318,349 (GRCm39) |
V374I |
probably benign |
Het |
Mtfr2 |
G |
A |
10: 20,224,149 (GRCm39) |
V28M |
probably benign |
Het |
Myh8 |
T |
A |
11: 67,180,520 (GRCm39) |
Y585* |
probably null |
Het |
Napsa |
T |
C |
7: 44,231,917 (GRCm39) |
V202A |
probably damaging |
Het |
Nsd2 |
A |
G |
5: 34,001,080 (GRCm39) |
K199R |
probably null |
Het |
Ntpcr |
C |
T |
8: 126,462,837 (GRCm39) |
A18V |
probably benign |
Het |
Or2aj4 |
A |
T |
16: 19,385,426 (GRCm39) |
M69K |
probably damaging |
Het |
Or2g25 |
G |
T |
17: 37,970,368 (GRCm39) |
N285K |
probably damaging |
Het |
Or56b35 |
T |
A |
7: 104,963,439 (GRCm39) |
I76N |
probably damaging |
Het |
Or5g9 |
G |
T |
2: 85,552,472 (GRCm39) |
C241F |
probably damaging |
Het |
Or8b9 |
A |
G |
9: 37,766,477 (GRCm39) |
D121G |
probably damaging |
Het |
Os9 |
A |
G |
10: 126,935,573 (GRCm39) |
V299A |
probably benign |
Het |
Pcdhb7 |
T |
C |
18: 37,476,915 (GRCm39) |
S684P |
possibly damaging |
Het |
Phf19 |
A |
C |
2: 34,787,067 (GRCm39) |
|
probably null |
Het |
Pkd1l3 |
G |
A |
8: 110,357,908 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
A |
G |
1: 20,429,134 (GRCm39) |
I2422T |
probably damaging |
Het |
Plxna2 |
T |
A |
1: 194,326,258 (GRCm39) |
V64E |
possibly damaging |
Het |
Psme4 |
T |
A |
11: 30,762,038 (GRCm39) |
C459* |
probably null |
Het |
Ptk6 |
T |
C |
2: 180,841,433 (GRCm39) |
S159G |
probably benign |
Het |
Rhd |
T |
C |
4: 134,617,650 (GRCm39) |
I329T |
possibly damaging |
Het |
Scfd1 |
A |
G |
12: 51,492,494 (GRCm39) |
Y601C |
probably damaging |
Het |
Shroom3 |
T |
C |
5: 93,110,148 (GRCm39) |
S1753P |
probably damaging |
Het |
Slc8a1 |
A |
C |
17: 81,749,630 (GRCm39) |
|
probably null |
Het |
Spg7 |
T |
A |
8: 123,803,669 (GRCm39) |
L233Q |
probably damaging |
Het |
Strip1 |
C |
A |
3: 107,529,198 (GRCm39) |
R353L |
probably damaging |
Het |
Ubr1 |
T |
C |
2: 120,764,823 (GRCm39) |
N544D |
possibly damaging |
Het |
Ubr4 |
A |
G |
4: 139,204,469 (GRCm39) |
T4794A |
possibly damaging |
Het |
Usp24 |
A |
G |
4: 106,266,095 (GRCm39) |
|
probably benign |
Het |
Vmn1r193 |
A |
T |
13: 22,403,984 (GRCm39) |
C3S |
probably benign |
Het |
Yju2b |
G |
T |
8: 84,987,163 (GRCm39) |
|
probably benign |
Het |
Zdhhc5 |
C |
T |
2: 84,520,836 (GRCm39) |
R447H |
probably benign |
Het |
Zfp202 |
A |
G |
9: 40,123,124 (GRCm39) |
I629V |
probably benign |
Het |
Zfp462 |
T |
A |
4: 55,023,441 (GRCm39) |
C990S |
probably damaging |
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 |
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 |
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 |
|
Posted On |
2014-05-07 |