Incidental Mutation 'R3112:Mcc'
| ID |
263756 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcc
|
| Ensembl Gene |
ENSMUSG00000071856 |
| Gene Name |
mutated in colorectal cancers |
| Synonyms |
D18Ertd451e |
| MMRRC Submission |
040585-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3112 (G1)
|
| Quality Score |
184 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
44558127-44945249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44582330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 607
(D607G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089874]
[ENSMUST00000164666]
|
| AlphaFold |
E9PWI3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089874
AA Change: D782G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000087318
Gene: ENSMUSG00000071856
AA Change: D782G
| 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: D607G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128032
Gene: ENSMUSG00000071856
AA Change: D607G
| 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 |
|
| Meta Mutation Damage Score |
0.1377 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (38/38) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,069,655 (GRCm39) |
K1554* |
probably null |
Het |
| Acads |
T |
C |
5: 115,255,757 (GRCm39) |
H26R |
probably benign |
Het |
| Acer1 |
G |
A |
17: 57,265,406 (GRCm39) |
T141I |
probably damaging |
Het |
| Adam15 |
C |
G |
3: 89,254,764 (GRCm39) |
V99L |
probably benign |
Het |
| Ankrd13b |
A |
G |
11: 77,368,331 (GRCm39) |
V97A |
possibly damaging |
Het |
| Anpep |
T |
C |
7: 79,491,720 (GRCm39) |
T94A |
probably benign |
Het |
| Atp1a3 |
T |
C |
7: 24,694,119 (GRCm39) |
N345S |
probably damaging |
Het |
| Btn1a1 |
T |
A |
13: 23,645,721 (GRCm39) |
N216I |
possibly damaging |
Het |
| Cacna1s |
G |
A |
1: 136,002,831 (GRCm39) |
W62* |
probably null |
Het |
| Ccdc141 |
C |
T |
2: 76,869,830 (GRCm39) |
V892I |
probably benign |
Het |
| Ccdc180 |
T |
A |
4: 45,900,470 (GRCm39) |
I278K |
possibly damaging |
Het |
| Cdc7 |
T |
G |
5: 107,122,564 (GRCm39) |
|
probably null |
Het |
| Cpb1 |
C |
T |
3: 20,319,521 (GRCm39) |
V188M |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,095,371 (GRCm39) |
I101T |
possibly damaging |
Het |
| Dqx1 |
T |
C |
6: 83,035,953 (GRCm39) |
V95A |
probably damaging |
Het |
| Dvl1 |
T |
A |
4: 155,938,123 (GRCm39) |
D90E |
probably damaging |
Het |
| Fam135b |
T |
C |
15: 71,335,879 (GRCm39) |
I438M |
probably benign |
Het |
| Fpr1 |
A |
T |
17: 18,096,897 (GRCm39) |
M364K |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Gpx7 |
C |
A |
4: 108,260,470 (GRCm39) |
V109F |
probably damaging |
Het |
| Grhl2 |
T |
C |
15: 37,336,591 (GRCm39) |
|
probably null |
Het |
| Grn |
A |
G |
11: 102,324,069 (GRCm39) |
T53A |
probably benign |
Het |
| H1f4 |
T |
C |
13: 23,805,829 (GRCm39) |
|
probably benign |
Het |
| H2-T9 |
T |
C |
17: 36,440,038 (GRCm39) |
Y32C |
probably damaging |
Het |
| Hmgxb3 |
T |
C |
18: 61,280,454 (GRCm39) |
N683S |
probably damaging |
Het |
| Iigp1 |
T |
C |
18: 60,523,983 (GRCm39) |
I367T |
probably benign |
Het |
| Itfg2 |
T |
C |
6: 128,388,632 (GRCm39) |
E285G |
probably damaging |
Het |
| Itgav |
T |
A |
2: 83,622,915 (GRCm39) |
C662* |
probably null |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Lipe |
T |
C |
7: 25,097,848 (GRCm39) |
T32A |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,698,898 (GRCm39) |
Y2475C |
probably benign |
Het |
| Mip |
T |
A |
10: 128,061,875 (GRCm39) |
L42* |
probably null |
Het |
| Mlc1 |
A |
T |
15: 88,850,199 (GRCm39) |
D192E |
probably benign |
Het |
| Muc2 |
T |
C |
7: 141,299,225 (GRCm39) |
|
probably benign |
Het |
| Mybl1 |
T |
C |
1: 9,752,095 (GRCm39) |
D260G |
probably damaging |
Het |
| Ncln |
C |
T |
10: 81,323,519 (GRCm39) |
V51I |
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,257,297 (GRCm39) |
V305A |
probably benign |
Het |
| Nodal |
G |
A |
10: 61,260,276 (GRCm39) |
R309Q |
possibly damaging |
Het |
| Olr1 |
T |
C |
6: 129,476,881 (GRCm39) |
N128S |
possibly damaging |
Het |
| Or10ak14 |
A |
T |
4: 118,611,421 (GRCm39) |
F105I |
probably damaging |
Het |
| Or12j5 |
A |
G |
7: 140,083,832 (GRCm39) |
I180T |
probably damaging |
Het |
| Or14a256 |
T |
C |
7: 86,264,884 (GRCm39) |
Y323C |
probably benign |
Het |
| Orc1 |
T |
A |
4: 108,461,757 (GRCm39) |
C585S |
probably benign |
Het |
| Pcmtd2 |
A |
T |
2: 181,496,922 (GRCm39) |
I300F |
probably damaging |
Het |
| Pfkfb4 |
C |
T |
9: 108,854,110 (GRCm39) |
|
probably benign |
Het |
| Phactr3 |
T |
A |
2: 177,920,810 (GRCm39) |
L180Q |
possibly damaging |
Het |
| Pigo |
T |
C |
4: 43,021,083 (GRCm39) |
T612A |
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,616,952 (GRCm39) |
D766V |
probably damaging |
Het |
| Plekhh3 |
T |
C |
11: 101,054,973 (GRCm39) |
|
probably benign |
Het |
| Potefam1 |
T |
G |
2: 111,058,399 (GRCm39) |
L131F |
probably damaging |
Het |
| Ppp1r12b |
T |
A |
1: 134,800,570 (GRCm39) |
T547S |
probably damaging |
Het |
| Prkcb |
T |
A |
7: 122,116,079 (GRCm39) |
M186K |
probably damaging |
Het |
| Prpf3 |
A |
T |
3: 95,757,112 (GRCm39) |
|
probably benign |
Het |
| Psg23 |
T |
C |
7: 18,344,369 (GRCm39) |
D362G |
possibly damaging |
Het |
| Reg3a |
T |
C |
6: 78,358,114 (GRCm39) |
L15P |
probably damaging |
Het |
| Scrib |
A |
T |
15: 75,941,223 (GRCm39) |
I5N |
probably damaging |
Het |
| Speg |
C |
T |
1: 75,399,326 (GRCm39) |
Q2005* |
probably null |
Het |
| Sppl3 |
A |
T |
5: 115,212,923 (GRCm39) |
S51C |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,434,534 (GRCm39) |
T1009A |
probably damaging |
Het |
| Syce1l |
A |
G |
8: 114,381,579 (GRCm39) |
Q164R |
probably benign |
Het |
| Sympk |
T |
C |
7: 18,768,409 (GRCm39) |
V126A |
possibly damaging |
Het |
| Tas2r110 |
T |
A |
6: 132,844,987 (GRCm39) |
I6K |
unknown |
Het |
| Tas2r120 |
A |
T |
6: 132,634,731 (GRCm39) |
H271L |
probably damaging |
Het |
| Tlcd3a |
A |
G |
11: 76,093,057 (GRCm39) |
D33G |
probably benign |
Het |
| Tnn |
T |
A |
1: 159,943,856 (GRCm39) |
T986S |
possibly damaging |
Het |
| Trim5 |
T |
C |
7: 103,928,845 (GRCm39) |
H32R |
probably damaging |
Het |
| Ttc13 |
A |
G |
8: 125,410,573 (GRCm39) |
I360T |
possibly damaging |
Het |
| Uaca |
A |
G |
9: 60,778,781 (GRCm39) |
E1054G |
probably damaging |
Het |
| Usp16 |
T |
A |
16: 87,268,736 (GRCm39) |
|
probably null |
Het |
| Wee1 |
T |
A |
7: 109,730,043 (GRCm39) |
S382R |
probably damaging |
Het |
| Wnt11 |
T |
C |
7: 98,495,771 (GRCm39) |
S92P |
probably damaging |
Het |
| Zfp1004 |
C |
G |
2: 150,034,141 (GRCm39) |
P185R |
probably damaging |
Het |
| Zfp786 |
A |
G |
6: 47,797,160 (GRCm39) |
C593R |
probably damaging |
Het |
| Zfp879 |
T |
G |
11: 50,723,989 (GRCm39) |
I283L |
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 |
|
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'- AGAGGCCATTGTCCAGAACG -3'
(R):5'- ACAGAGTCTAGTGGTGATAACTTGG -3'
Sequencing Primer
(F):5'- TTGTCCAGAACGAGGCAATTAC -3'
(R):5'- ACTTGGAAACATGGAGTCTCTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation