Incidental Mutation 'R6502:Mcc'
| ID |
519828 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcc
|
| Ensembl Gene |
ENSMUSG00000071856 |
| Gene Name |
mutated in colorectal cancers |
| Synonyms |
D18Ertd451e |
| MMRRC Submission |
044634-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6502 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
44558127-44945249 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 44601457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 449
(L449*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089874]
[ENSMUST00000164666]
|
| AlphaFold |
E9PWI3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000089874
AA Change: L624*
|
| SMART Domains |
Protein: ENSMUSP00000087318
Gene: ENSMUSG00000071856
AA Change: L624*
| 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 null
Transcript: ENSMUST00000164666
AA Change: L449*
|
| SMART Domains |
Protein: ENSMUSP00000128032
Gene: ENSMUSG00000071856
AA Change: L449*
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
A |
T |
6: 124,333,908 (GRCm39) |
I24K |
probably benign |
Het |
| Adamts9 |
A |
T |
6: 92,849,316 (GRCm39) |
C467S |
probably damaging |
Het |
| Adcy7 |
G |
A |
8: 89,052,107 (GRCm39) |
R925Q |
probably damaging |
Het |
| Akap6 |
G |
A |
12: 53,186,998 (GRCm39) |
G1471S |
probably damaging |
Het |
| Ap2b1 |
T |
C |
11: 83,233,505 (GRCm39) |
V506A |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,051,814 (GRCm39) |
I1113M |
probably damaging |
Het |
| Arsg |
A |
T |
11: 109,408,162 (GRCm39) |
N105Y |
probably damaging |
Het |
| Blm |
T |
A |
7: 80,131,223 (GRCm39) |
Y872F |
probably damaging |
Het |
| Btaf1 |
A |
T |
19: 36,961,017 (GRCm39) |
N797Y |
probably benign |
Het |
| Camsap1 |
T |
C |
2: 25,846,320 (GRCm39) |
E201G |
probably damaging |
Het |
| Ccdc122 |
T |
A |
14: 77,279,509 (GRCm39) |
|
probably null |
Homo |
| Ccdc141 |
A |
G |
2: 77,000,745 (GRCm39) |
V29A |
probably damaging |
Het |
| Cd244a |
T |
A |
1: 171,405,447 (GRCm39) |
D277E |
probably benign |
Het |
| Cfap157 |
T |
C |
2: 32,670,690 (GRCm39) |
Y186C |
probably damaging |
Het |
| Ciita |
C |
T |
16: 10,329,774 (GRCm39) |
A686V |
probably damaging |
Het |
| Clptm1l |
T |
C |
13: 73,765,884 (GRCm39) |
|
probably null |
Het |
| Col16a1 |
C |
T |
4: 129,949,787 (GRCm39) |
P50L |
probably damaging |
Het |
| Crisp3 |
A |
T |
17: 40,546,804 (GRCm39) |
V38D |
probably damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,112,173 (GRCm39) |
E1010G |
probably damaging |
Het |
| Dvl3 |
G |
A |
16: 20,346,133 (GRCm39) |
E488K |
probably damaging |
Het |
| Eed |
C |
A |
7: 89,626,237 (GRCm39) |
E45D |
probably benign |
Het |
| Eln |
A |
G |
5: 134,754,628 (GRCm39) |
|
probably benign |
Het |
| Fah |
T |
A |
7: 84,244,043 (GRCm39) |
I239F |
probably damaging |
Het |
| Fbxw5 |
T |
A |
2: 25,392,448 (GRCm39) |
Y77N |
possibly damaging |
Het |
| Garnl3 |
T |
C |
2: 32,896,833 (GRCm39) |
E602G |
possibly damaging |
Het |
| Gkn3 |
A |
T |
6: 87,365,786 (GRCm39) |
M11K |
probably benign |
Het |
| Glt1d1 |
A |
G |
5: 127,784,045 (GRCm39) |
Y333C |
probably damaging |
Het |
| Gm10762 |
A |
T |
2: 128,809,090 (GRCm39) |
Y86* |
probably null |
Het |
| Gm14496 |
A |
G |
2: 181,642,386 (GRCm39) |
M686V |
probably benign |
Het |
| Gse1 |
T |
A |
8: 121,280,428 (GRCm39) |
|
probably null |
Het |
| Herc4 |
C |
A |
10: 63,153,197 (GRCm39) |
T1035K |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,272,490 (GRCm39) |
N1323K |
probably damaging |
Het |
| Hnrnpd |
T |
A |
5: 100,114,025 (GRCm39) |
E3D |
probably damaging |
Het |
| Htr7 |
T |
A |
19: 35,947,010 (GRCm39) |
I335F |
probably damaging |
Het |
| Ift70b |
T |
A |
2: 75,767,448 (GRCm39) |
N435I |
possibly damaging |
Het |
| Itgae |
A |
T |
11: 73,036,418 (GRCm39) |
I1119F |
probably benign |
Het |
| Lcn11 |
T |
C |
2: 25,669,103 (GRCm39) |
F137S |
probably benign |
Het |
| Lrp3 |
T |
G |
7: 34,903,413 (GRCm39) |
D311A |
possibly damaging |
Het |
| Lrrc1 |
G |
T |
9: 77,349,473 (GRCm39) |
D364E |
probably damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,383,005 (GRCm39) |
E2456V |
unknown |
Het |
| Lrriq1 |
T |
C |
10: 103,063,045 (GRCm39) |
Y87C |
probably damaging |
Het |
| Mcm9 |
T |
C |
10: 53,488,935 (GRCm39) |
T496A |
probably damaging |
Het |
| Myef2 |
T |
A |
2: 124,958,602 (GRCm39) |
D109V |
probably damaging |
Het |
| Myom3 |
C |
T |
4: 135,489,824 (GRCm39) |
|
probably benign |
Het |
| Nanos1 |
G |
T |
19: 60,744,977 (GRCm39) |
G92W |
possibly damaging |
Het |
| Ncor1 |
T |
A |
11: 62,272,240 (GRCm39) |
K84* |
probably null |
Het |
| Neb |
T |
A |
2: 52,181,094 (GRCm39) |
D1171V |
probably benign |
Het |
| Notch3 |
A |
G |
17: 32,377,191 (GRCm39) |
W267R |
probably damaging |
Het |
| Or5d39 |
A |
T |
2: 87,980,360 (GRCm39) |
M1K |
probably null |
Het |
| Or8d1 |
A |
C |
9: 38,766,933 (GRCm39) |
T192P |
probably damaging |
Het |
| Per2 |
A |
G |
1: 91,355,485 (GRCm39) |
S758P |
probably benign |
Het |
| Pi4k2a |
A |
G |
19: 42,079,371 (GRCm39) |
Q144R |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,720,392 (GRCm39) |
V327E |
probably benign |
Het |
| Pla2g4a |
C |
T |
1: 149,748,367 (GRCm39) |
W272* |
probably null |
Het |
| Plekha4 |
T |
A |
7: 45,180,000 (GRCm39) |
M1K |
probably null |
Het |
| Ppt2 |
A |
G |
17: 34,844,894 (GRCm39) |
C117R |
probably damaging |
Het |
| Prph |
A |
T |
15: 98,954,267 (GRCm39) |
I222F |
probably damaging |
Het |
| Rbm43 |
T |
C |
2: 51,815,588 (GRCm39) |
D211G |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,398,251 (GRCm39) |
D1072G |
probably benign |
Het |
| Rnf123 |
G |
T |
9: 107,945,531 (GRCm39) |
Q380K |
possibly damaging |
Het |
| Rnf145 |
T |
C |
11: 44,415,932 (GRCm39) |
F49S |
probably damaging |
Het |
| Sall4 |
A |
G |
2: 168,597,628 (GRCm39) |
I404T |
probably damaging |
Het |
| Slc25a39 |
G |
A |
11: 102,295,286 (GRCm39) |
P228L |
probably damaging |
Het |
| Tbc1d14 |
T |
C |
5: 36,677,825 (GRCm39) |
T377A |
possibly damaging |
Het |
| Tbc1d17 |
A |
G |
7: 44,491,049 (GRCm39) |
I555T |
probably benign |
Het |
| Tmem131l |
A |
T |
3: 83,829,715 (GRCm39) |
S980T |
probably damaging |
Het |
| Tmem14a |
G |
T |
1: 21,299,662 (GRCm39) |
L97F |
possibly damaging |
Het |
| Tmem98 |
T |
C |
11: 80,703,461 (GRCm39) |
V26A |
probably benign |
Het |
| Tmppe |
G |
T |
9: 114,234,720 (GRCm39) |
G340W |
probably damaging |
Het |
| Tsc1 |
T |
C |
2: 28,555,613 (GRCm39) |
S237P |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,171,982 (GRCm39) |
R2992W |
probably damaging |
Het |
| Ugt2a2 |
A |
G |
5: 87,608,318 (GRCm39) |
V673A |
possibly damaging |
Het |
| Vmn2r19 |
T |
C |
6: 123,293,067 (GRCm39) |
Y370H |
possibly damaging |
Het |
| Vmn2r20 |
A |
G |
6: 123,373,342 (GRCm39) |
F500S |
possibly damaging |
Het |
| Zc3h7b |
A |
G |
15: 81,653,252 (GRCm39) |
Y47C |
probably benign |
Het |
| Zdhhc13 |
A |
G |
7: 48,465,308 (GRCm39) |
E406G |
possibly damaging |
Het |
| Zfp418 |
T |
C |
7: 7,185,599 (GRCm39) |
S521P |
possibly 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 |
|
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 |
|
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 |
|
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'- GCTGTTGCAAGGACACTGAG -3'
(R):5'- GTCTACTTGCGAGTGAGACAAG -3'
Sequencing Primer
(F):5'- CTGACAACCTGGGTTCGAAATCTG -3'
(R):5'- CTTGCGAGTGAGACAAGTGATATATC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation