Incidental Mutation 'R4721:Mcc'
| ID |
354502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcc
|
| Ensembl Gene |
ENSMUSG00000071856 |
| Gene Name |
mutated in colorectal cancers |
| Synonyms |
D18Ertd451e |
| MMRRC Submission |
041986-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4721 (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 44652623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 267
(L267P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089874]
[ENSMUST00000164666]
|
| AlphaFold |
E9PWI3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089874
AA Change: L267P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000087318
Gene: ENSMUSG00000071856
AA Change: L267P
| 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: L92P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000128032
Gene: ENSMUSG00000071856
AA Change: L92P
| 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 |
0.4781 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
98% (90/92) |
| 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 |
|---|
| 3425401B19Rik |
T |
C |
14: 32,385,107 (GRCm39) |
D286G |
probably benign |
Het |
| Abca15 |
G |
A |
7: 119,949,998 (GRCm39) |
E491K |
probably benign |
Het |
| Acsl5 |
A |
G |
19: 55,268,962 (GRCm39) |
T208A |
probably benign |
Het |
| Adamts10 |
T |
A |
17: 33,764,511 (GRCm39) |
|
probably null |
Het |
| Ahcyl1 |
T |
C |
3: 107,577,233 (GRCm39) |
Q313R |
possibly damaging |
Het |
| Ccdc71 |
C |
T |
9: 108,340,622 (GRCm39) |
S145L |
possibly damaging |
Het |
| Cep250 |
A |
G |
2: 155,812,119 (GRCm39) |
T472A |
probably damaging |
Het |
| Copa |
T |
C |
1: 171,931,841 (GRCm39) |
|
probably benign |
Het |
| Crybg1 |
C |
A |
10: 43,873,883 (GRCm39) |
R1075L |
probably damaging |
Het |
| Ddr2 |
T |
A |
1: 169,832,809 (GRCm39) |
K84* |
probably null |
Het |
| Ddx59 |
C |
T |
1: 136,344,844 (GRCm39) |
P172S |
probably benign |
Het |
| Dhx34 |
T |
A |
7: 15,931,307 (GRCm39) |
Q1118L |
possibly damaging |
Het |
| Dkkl1 |
T |
A |
7: 44,857,232 (GRCm39) |
I112F |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,944,140 (GRCm39) |
C1786S |
probably damaging |
Het |
| Eml6 |
T |
A |
11: 29,788,525 (GRCm39) |
D520V |
possibly damaging |
Het |
| Ergic1 |
T |
A |
17: 26,857,750 (GRCm39) |
V192E |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,941,262 (GRCm39) |
E1343G |
probably damaging |
Het |
| Fxr1 |
T |
C |
3: 34,118,381 (GRCm39) |
S535P |
possibly damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm15446 |
C |
T |
5: 110,090,866 (GRCm39) |
H373Y |
probably damaging |
Het |
| Gpr157 |
A |
T |
4: 150,183,420 (GRCm39) |
N197Y |
probably benign |
Het |
| Grid2 |
G |
A |
6: 64,643,185 (GRCm39) |
M982I |
probably benign |
Het |
| Hey2 |
G |
T |
10: 30,710,304 (GRCm39) |
R150S |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,648,322 (GRCm39) |
|
probably null |
Het |
| Ighv3-3 |
G |
A |
12: 114,160,156 (GRCm39) |
R85* |
probably null |
Het |
| Ighv5-4 |
A |
T |
12: 113,561,060 (GRCm39) |
|
probably benign |
Het |
| Igsf21 |
A |
G |
4: 139,834,621 (GRCm39) |
S84P |
probably benign |
Het |
| Kif20b |
A |
G |
19: 34,915,773 (GRCm39) |
T517A |
probably benign |
Het |
| Krt87 |
T |
C |
15: 101,385,863 (GRCm39) |
E244G |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,390,928 (GRCm39) |
T2990A |
possibly damaging |
Het |
| Lrp1b |
T |
A |
2: 40,605,381 (GRCm39) |
|
probably null |
Het |
| Lrrc42 |
A |
T |
4: 107,091,050 (GRCm39) |
S382T |
probably benign |
Het |
| Magi2 |
C |
T |
5: 20,739,467 (GRCm39) |
R737W |
probably damaging |
Het |
| Mzf1 |
T |
A |
7: 12,777,223 (GRCm39) |
Q727L |
possibly damaging |
Het |
| Mzf1 |
C |
T |
7: 12,777,448 (GRCm39) |
R652Q |
possibly damaging |
Het |
| Nkain3 |
C |
T |
4: 20,485,015 (GRCm39) |
A21T |
probably damaging |
Het |
| Nlrp4e |
T |
A |
7: 23,020,521 (GRCm39) |
V336E |
possibly damaging |
Het |
| Nptn |
C |
T |
9: 58,548,059 (GRCm39) |
R155C |
probably damaging |
Het |
| Nr2c2 |
T |
C |
6: 92,116,828 (GRCm39) |
I10T |
possibly damaging |
Het |
| Or12e13 |
T |
A |
2: 87,663,515 (GRCm39) |
I44N |
probably damaging |
Het |
| Or1e26 |
C |
T |
11: 73,480,273 (GRCm39) |
C97Y |
probably damaging |
Het |
| Or1j13 |
T |
C |
2: 36,369,836 (GRCm39) |
Y102C |
probably benign |
Het |
| Pdzk1 |
G |
T |
3: 96,776,518 (GRCm39) |
E493* |
probably null |
Het |
| Plekhh1 |
GTCAAA |
G |
12: 79,122,194 (GRCm39) |
|
probably null |
Het |
| Polr3b |
T |
C |
10: 84,491,867 (GRCm39) |
V342A |
possibly damaging |
Het |
| Prg3 |
T |
C |
2: 84,821,750 (GRCm39) |
V125A |
possibly damaging |
Het |
| Raph1 |
G |
A |
1: 60,542,160 (GRCm39) |
|
probably benign |
Het |
| Rassf2 |
A |
G |
2: 131,846,358 (GRCm39) |
V133A |
probably benign |
Het |
| Rbm22 |
G |
A |
18: 60,697,463 (GRCm39) |
R56H |
probably damaging |
Het |
| Rbpjl |
A |
C |
2: 164,246,447 (GRCm39) |
S31R |
probably benign |
Het |
| Reln |
A |
G |
5: 22,124,220 (GRCm39) |
V2762A |
probably damaging |
Het |
| Rxrg |
T |
A |
1: 167,452,621 (GRCm39) |
I141N |
probably damaging |
Het |
| Scn7a |
C |
A |
2: 66,514,529 (GRCm39) |
G1082C |
probably damaging |
Het |
| Selenon |
C |
A |
4: 134,270,387 (GRCm39) |
E322* |
probably null |
Het |
| Sipa1 |
C |
T |
19: 5,710,413 (GRCm39) |
R199Q |
probably damaging |
Het |
| Slc26a7 |
A |
T |
4: 14,510,261 (GRCm39) |
|
probably null |
Het |
| Slc37a4 |
T |
C |
9: 44,312,787 (GRCm39) |
S314P |
possibly damaging |
Het |
| Smarce1 |
T |
C |
11: 99,111,543 (GRCm39) |
I59V |
probably benign |
Het |
| Stk19 |
T |
C |
17: 35,042,120 (GRCm39) |
|
probably null |
Het |
| Susd2 |
C |
T |
10: 75,473,964 (GRCm39) |
D544N |
probably benign |
Het |
| Tcf7l2 |
G |
T |
19: 55,919,886 (GRCm39) |
R465L |
possibly damaging |
Het |
| Tfap2d |
T |
A |
1: 19,174,984 (GRCm39) |
S146T |
possibly damaging |
Het |
| Tmem156 |
A |
G |
5: 65,248,870 (GRCm39) |
F10S |
probably benign |
Het |
| Tmem63c |
G |
T |
12: 87,103,954 (GRCm39) |
A68S |
possibly damaging |
Het |
| Tnfrsf21 |
T |
C |
17: 43,396,395 (GRCm39) |
C560R |
probably damaging |
Het |
| Trav10n |
C |
T |
14: 53,359,590 (GRCm39) |
T7I |
probably benign |
Het |
| Ttc38 |
C |
T |
15: 85,722,947 (GRCm39) |
R132W |
probably benign |
Het |
| Tvp23a |
T |
C |
16: 10,245,275 (GRCm39) |
K108R |
probably benign |
Het |
| Vmn1r233 |
T |
C |
17: 21,214,879 (GRCm39) |
M24V |
probably benign |
Het |
| Vmn1r88 |
T |
A |
7: 12,912,451 (GRCm39) |
L269* |
probably null |
Het |
| Vmn2r101 |
T |
A |
17: 19,832,287 (GRCm39) |
M761K |
probably damaging |
Het |
| Vps13b |
C |
T |
15: 35,910,864 (GRCm39) |
Q3543* |
probably null |
Het |
| Wdr37 |
T |
C |
13: 8,904,065 (GRCm39) |
E101G |
possibly damaging |
Het |
| Zc3hc1 |
A |
G |
6: 30,374,899 (GRCm39) |
V214A |
probably benign |
Het |
| Zcchc9 |
A |
T |
13: 91,948,728 (GRCm39) |
|
probably null |
Het |
| Zdbf2 |
A |
T |
1: 63,347,951 (GRCm39) |
Q2110L |
possibly damaging |
Het |
| Zfp516 |
T |
G |
18: 82,975,236 (GRCm39) |
L478R |
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 |
|
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'- CTACCCTCTAGGATGGTTGCTG -3'
(R):5'- GGACATACCAGTTCTGAGAGTG -3'
Sequencing Primer
(F):5'- CCTCTAGGATGGTTGCTGAGGATC -3'
(R):5'- CAGTTCTGAGAGTGATAGTTTGAAGC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation