Incidental Mutation 'R0063:Mcc'
ID |
43819 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mcc
|
Ensembl Gene |
ENSMUSG00000071856 |
Gene Name |
mutated in colorectal cancers |
Synonyms |
D18Ertd451e |
MMRRC Submission |
038355-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0063 (G1)
|
Quality Score |
225 |
Status
|
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: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.8%
|
Validation Efficiency |
97% (69/71) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
C |
T |
16: 4,678,912 (GRCm39) |
R245* |
probably null |
Het |
4930563I02Rik |
T |
A |
14: 60,333,477 (GRCm39) |
|
probably benign |
Het |
Acss1 |
T |
C |
2: 150,469,212 (GRCm39) |
T435A |
probably damaging |
Het |
Aoc2 |
T |
A |
11: 101,216,897 (GRCm39) |
S327T |
probably damaging |
Het |
Arid5a |
T |
A |
1: 36,357,645 (GRCm39) |
Y252N |
probably damaging |
Het |
AU040320 |
T |
C |
4: 126,733,465 (GRCm39) |
Y662H |
probably damaging |
Het |
B4gat1 |
T |
A |
19: 5,089,735 (GRCm39) |
L244* |
probably null |
Het |
Bcam |
C |
T |
7: 19,500,773 (GRCm39) |
V134I |
probably benign |
Het |
Btbd16 |
A |
T |
7: 130,424,896 (GRCm39) |
T426S |
probably benign |
Het |
Btn1a1 |
C |
T |
13: 23,649,267 (GRCm39) |
|
probably null |
Het |
Cap2 |
T |
C |
13: 46,791,508 (GRCm39) |
|
probably benign |
Het |
Capn8 |
T |
A |
1: 182,429,677 (GRCm39) |
D299E |
probably damaging |
Het |
Cdipt |
G |
A |
7: 126,578,772 (GRCm39) |
V160I |
probably benign |
Het |
Cep164 |
A |
G |
9: 45,679,916 (GRCm39) |
S1267P |
possibly damaging |
Het |
Cic |
T |
A |
7: 24,986,565 (GRCm39) |
S1299T |
probably damaging |
Het |
Cic |
C |
A |
7: 24,986,566 (GRCm39) |
S1299Y |
probably damaging |
Het |
Col3a1 |
T |
C |
1: 45,369,701 (GRCm39) |
|
probably benign |
Het |
Cyb5r3 |
T |
C |
15: 83,046,137 (GRCm39) |
T60A |
probably benign |
Het |
Dgkb |
T |
G |
12: 38,654,112 (GRCm39) |
S744A |
probably benign |
Het |
Dock2 |
T |
A |
11: 34,647,111 (GRCm39) |
|
probably null |
Het |
Ece1 |
C |
T |
4: 137,675,892 (GRCm39) |
T422M |
probably benign |
Het |
Ece2 |
A |
G |
16: 20,461,067 (GRCm39) |
T442A |
probably benign |
Het |
Elapor2 |
T |
C |
5: 9,490,709 (GRCm39) |
|
probably benign |
Het |
Eml3 |
C |
A |
19: 8,915,842 (GRCm39) |
A644D |
probably damaging |
Het |
Fbp2 |
A |
T |
13: 63,001,862 (GRCm39) |
F118I |
probably damaging |
Het |
Foxp1 |
A |
G |
6: 98,921,684 (GRCm39) |
|
probably benign |
Het |
Gm10801 |
G |
T |
2: 98,494,185 (GRCm39) |
S109I |
probably benign |
Het |
Il17rd |
G |
A |
14: 26,804,690 (GRCm39) |
C88Y |
probably damaging |
Het |
Il17rd |
C |
A |
14: 26,804,691 (GRCm39) |
C88* |
probably null |
Het |
Ino80c |
A |
G |
18: 24,239,681 (GRCm39) |
F160S |
probably damaging |
Het |
Ints8 |
T |
C |
4: 11,252,857 (GRCm39) |
N75S |
probably damaging |
Het |
Irf2bp1 |
C |
T |
7: 18,739,772 (GRCm39) |
R471C |
possibly damaging |
Het |
Irs1 |
T |
A |
1: 82,266,580 (GRCm39) |
E545D |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,661,762 (GRCm39) |
|
probably benign |
Het |
Mast4 |
C |
A |
13: 103,470,723 (GRCm39) |
|
probably benign |
Het |
Nat8f2 |
A |
T |
6: 85,844,815 (GRCm39) |
S182R |
possibly damaging |
Het |
Nrcam |
G |
T |
12: 44,596,811 (GRCm39) |
V343F |
possibly damaging |
Het |
Opn5 |
T |
C |
17: 42,907,517 (GRCm39) |
S120G |
probably damaging |
Het |
Pdk2 |
T |
C |
11: 94,923,306 (GRCm39) |
H106R |
probably benign |
Het |
Pkhd1 |
G |
A |
1: 20,282,174 (GRCm39) |
T2889I |
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,392,633 (GRCm39) |
L1656H |
probably damaging |
Het |
Plxna2 |
A |
T |
1: 194,327,247 (GRCm39) |
T394S |
probably benign |
Het |
Pnpla8 |
T |
A |
12: 44,329,615 (GRCm39) |
C56S |
probably damaging |
Het |
Prdm8 |
G |
T |
5: 98,332,453 (GRCm39) |
R118L |
probably damaging |
Het |
Prkce |
T |
C |
17: 86,789,539 (GRCm39) |
|
probably benign |
Het |
Ptprk |
T |
A |
10: 28,139,763 (GRCm39) |
Y163N |
probably damaging |
Het |
Rbbp8 |
T |
A |
18: 11,867,614 (GRCm39) |
|
probably benign |
Het |
Rnh1 |
A |
T |
7: 140,744,109 (GRCm39) |
|
probably null |
Het |
Rtn4 |
T |
A |
11: 29,655,527 (GRCm39) |
|
probably benign |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Slc2a2 |
T |
C |
3: 28,771,589 (GRCm39) |
M173T |
probably damaging |
Het |
Slc2a8 |
T |
A |
2: 32,870,011 (GRCm39) |
|
probably null |
Het |
Tdpoz1 |
A |
T |
3: 93,578,121 (GRCm39) |
M221K |
probably benign |
Het |
Tgm7 |
G |
T |
2: 120,924,577 (GRCm39) |
H533Q |
probably benign |
Het |
Timm29 |
C |
A |
9: 21,504,304 (GRCm39) |
A17E |
probably benign |
Het |
Tmem131 |
C |
T |
1: 36,858,209 (GRCm39) |
V713I |
probably benign |
Het |
Tmem89 |
A |
G |
9: 108,743,880 (GRCm39) |
N60S |
probably benign |
Het |
Tpx2 |
A |
G |
2: 152,722,043 (GRCm39) |
T212A |
probably damaging |
Het |
Trio |
G |
T |
15: 27,881,523 (GRCm39) |
|
probably benign |
Het |
Tulp2 |
T |
C |
7: 45,170,284 (GRCm39) |
|
probably benign |
Het |
Uggt2 |
A |
G |
14: 119,244,542 (GRCm39) |
|
probably benign |
Het |
Vmn2r5 |
T |
A |
3: 64,411,221 (GRCm39) |
E449V |
probably benign |
Het |
Vwa8 |
A |
G |
14: 79,401,656 (GRCm39) |
|
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,339,427 (GRCm39) |
D556G |
probably damaging |
Het |
Xrn1 |
T |
C |
9: 95,851,588 (GRCm39) |
L202P |
probably damaging |
Het |
Zfp354a |
A |
T |
11: 50,960,398 (GRCm39) |
H203L |
probably damaging |
Het |
Zfp53 |
A |
C |
17: 21,728,367 (GRCm39) |
R133S |
probably benign |
Het |
Zfp787 |
C |
T |
7: 6,135,322 (GRCm39) |
|
probably null |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGGCATTCGCCTAGAACTTGTTAATC -3'
(R):5'- GCGTGTCAACATAACCACATGTCCATC -3'
Sequencing Primer
(F):5'- CCTAGAACTTGTTAATCAACCGCTG -3'
(R):5'- ATAACCACATGTCCATCTTGTGC -3'
|
Posted On |
2013-05-29 |