Incidental Mutation 'R0217:Mcc'
| ID |
33642 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcc
|
| Ensembl Gene |
ENSMUSG00000071856 |
| Gene Name |
mutated in colorectal cancers |
| Synonyms |
D18Ertd451e |
| MMRRC Submission |
038466-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0217 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| 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: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
100% (62/62) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
T |
C |
7: 143,447,956 (GRCm39) |
|
probably benign |
Het |
| Actr3 |
A |
G |
1: 125,335,150 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
A |
G |
2: 26,886,933 (GRCm39) |
|
probably benign |
Het |
| Afap1l1 |
A |
G |
18: 61,879,940 (GRCm39) |
V310A |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,599,912 (GRCm39) |
S2048R |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,385,618 (GRCm39) |
S421T |
possibly damaging |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Ccdc150 |
T |
G |
1: 54,339,589 (GRCm39) |
S478A |
possibly damaging |
Het |
| Ccnyl1 |
T |
A |
1: 64,752,257 (GRCm39) |
|
probably benign |
Het |
| Cdc23 |
T |
C |
18: 34,784,718 (GRCm39) |
T15A |
unknown |
Het |
| Cdk19 |
C |
T |
10: 40,352,254 (GRCm39) |
|
probably benign |
Het |
| Comp |
A |
C |
8: 70,831,558 (GRCm39) |
D420A |
probably damaging |
Het |
| Ctnnal1 |
T |
C |
4: 56,813,230 (GRCm39) |
H667R |
probably benign |
Het |
| Cyp20a1 |
C |
A |
1: 60,382,625 (GRCm39) |
|
probably benign |
Het |
| Eci3 |
A |
C |
13: 35,132,072 (GRCm39) |
S259A |
probably benign |
Het |
| Fcnb |
T |
C |
2: 27,969,689 (GRCm39) |
D126G |
probably benign |
Het |
| Foxk1 |
T |
C |
5: 142,387,649 (GRCm39) |
M124T |
possibly damaging |
Het |
| Gm12790 |
T |
C |
4: 101,825,231 (GRCm39) |
Y61C |
probably damaging |
Het |
| Hmgcr |
A |
C |
13: 96,788,488 (GRCm39) |
I777S |
probably damaging |
Het |
| Hsdl2 |
A |
G |
4: 59,597,311 (GRCm39) |
E100G |
probably damaging |
Het |
| Itgb2 |
G |
T |
10: 77,384,370 (GRCm39) |
|
probably benign |
Het |
| Jak2 |
T |
A |
19: 29,274,050 (GRCm39) |
|
probably null |
Het |
| Lrba |
T |
C |
3: 86,550,029 (GRCm39) |
S2333P |
probably damaging |
Het |
| Man1a2 |
A |
G |
3: 100,524,353 (GRCm39) |
L365P |
possibly damaging |
Het |
| Map2k5 |
A |
T |
9: 63,164,257 (GRCm39) |
|
probably null |
Het |
| Megf8 |
T |
A |
7: 25,063,504 (GRCm39) |
L2620Q |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,319,400 (GRCm39) |
|
probably benign |
Het |
| Or11h7 |
A |
G |
14: 50,891,552 (GRCm39) |
N286S |
probably damaging |
Het |
| Or1e30 |
T |
A |
11: 73,678,214 (GRCm39) |
V150E |
possibly damaging |
Het |
| Or5p1 |
C |
A |
7: 107,916,505 (GRCm39) |
H135N |
probably benign |
Het |
| Pank3 |
T |
A |
11: 35,668,555 (GRCm39) |
D181E |
probably benign |
Het |
| Pip5k1a |
A |
G |
3: 94,981,302 (GRCm39) |
|
probably null |
Het |
| Plag1 |
A |
C |
4: 3,904,379 (GRCm39) |
S271A |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,326,906 (GRCm39) |
I280N |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,940,687 (GRCm39) |
V1007A |
probably benign |
Het |
| Ppm1h |
T |
A |
10: 122,756,640 (GRCm39) |
D428E |
probably damaging |
Het |
| Prelid2 |
A |
T |
18: 42,068,317 (GRCm39) |
|
probably benign |
Het |
| Ptk2b |
T |
C |
14: 66,393,830 (GRCm39) |
Y881C |
probably damaging |
Het |
| Rptor |
T |
C |
11: 119,785,738 (GRCm39) |
|
probably benign |
Het |
| Sbno1 |
T |
C |
5: 124,542,387 (GRCm39) |
|
probably null |
Het |
| Scaf4 |
T |
C |
16: 90,039,570 (GRCm39) |
D843G |
probably damaging |
Het |
| Serpina3b |
C |
T |
12: 104,096,986 (GRCm39) |
A89V |
probably damaging |
Het |
| Serpinb9d |
C |
A |
13: 33,382,005 (GRCm39) |
T158N |
possibly damaging |
Het |
| Slc39a10 |
C |
T |
1: 46,874,700 (GRCm39) |
V201I |
probably benign |
Het |
| Slc6a13 |
T |
A |
6: 121,301,279 (GRCm39) |
N189K |
probably damaging |
Het |
| Smco1 |
G |
T |
16: 32,092,599 (GRCm39) |
R90L |
possibly damaging |
Het |
| Stim1 |
T |
A |
7: 102,085,007 (GRCm39) |
M653K |
probably benign |
Het |
| Stxbp1 |
T |
C |
2: 32,691,882 (GRCm39) |
S437G |
possibly damaging |
Het |
| Stxbp3-ps |
T |
G |
19: 9,536,496 (GRCm39) |
|
noncoding transcript |
Het |
| Tgtp1 |
A |
C |
11: 48,878,146 (GRCm39) |
S186R |
probably benign |
Het |
| Trpc7 |
C |
T |
13: 56,937,581 (GRCm39) |
W570* |
probably null |
Het |
| Trpv4 |
C |
A |
5: 114,772,722 (GRCm39) |
R289L |
possibly damaging |
Het |
| Vmn2r82 |
A |
G |
10: 79,214,634 (GRCm39) |
M206V |
possibly damaging |
Het |
| Wdr47 |
T |
A |
3: 108,544,336 (GRCm39) |
V653E |
probably damaging |
Het |
| Zfp113 |
T |
C |
5: 138,148,953 (GRCm39) |
R64G |
probably benign |
Het |
| Zfp661 |
C |
T |
2: 127,419,211 (GRCm39) |
E310K |
probably damaging |
Het |
| Zfp735 |
T |
A |
11: 73,602,112 (GRCm39) |
I352N |
possibly damaging |
Het |
| Zswim4 |
A |
G |
8: 84,939,293 (GRCm39) |
L863P |
probably damaging |
Het |
| Zzef1 |
T |
A |
11: 72,779,894 (GRCm39) |
I1889N |
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 |
|
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 |
|
|
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 |
2013-05-09 |
Incidental Mutation