Incidental Mutation 'R5997:Mcc'
ID |
480660 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mcc
|
Ensembl Gene |
ENSMUSG00000071856 |
Gene Name |
mutated in colorectal cancers |
Synonyms |
D18Ertd451e |
MMRRC Submission |
044176-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5997 (G1)
|
Quality Score |
205.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
44558127-44945249 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 44582388 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Methionine
at position 588
(L588M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128032
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089874]
[ENSMUST00000164666]
|
AlphaFold |
E9PWI3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089874
AA Change: L763M
PolyPhen 2
Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000087318 Gene: ENSMUSG00000071856 AA Change: L763M
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: L588M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000128032 Gene: ENSMUSG00000071856 AA Change: L588M
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 |
0.0740 |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.5%
|
Validation Efficiency |
100% (78/78) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
A |
T |
5: 124,227,878 (GRCm39) |
V121E |
possibly damaging |
Het |
Acsbg3 |
A |
T |
17: 57,183,373 (GRCm39) |
D38V |
probably benign |
Het |
Adamts20 |
T |
A |
15: 94,277,628 (GRCm39) |
Y278F |
probably damaging |
Het |
Adcy7 |
A |
T |
8: 89,053,020 (GRCm39) |
D972V |
probably benign |
Het |
Adgrf3 |
C |
A |
5: 30,403,360 (GRCm39) |
|
probably null |
Het |
Ahdc1 |
G |
T |
4: 132,791,206 (GRCm39) |
G816C |
probably benign |
Het |
Aifm3 |
A |
G |
16: 17,319,994 (GRCm39) |
K283E |
probably benign |
Het |
Akap6 |
T |
C |
12: 52,984,016 (GRCm39) |
|
probably null |
Het |
Ank1 |
T |
C |
8: 23,589,678 (GRCm39) |
L593P |
probably damaging |
Het |
Apol11b |
T |
A |
15: 77,519,697 (GRCm39) |
T128S |
probably benign |
Het |
C1qtnf7 |
C |
A |
5: 43,773,427 (GRCm39) |
T235K |
probably damaging |
Het |
Camk2a |
A |
T |
18: 61,111,029 (GRCm39) |
I73F |
probably damaging |
Het |
Ccdc121rt3 |
C |
T |
5: 112,502,874 (GRCm39) |
V277M |
possibly damaging |
Het |
Cd109 |
G |
T |
9: 78,612,344 (GRCm39) |
V1244F |
possibly damaging |
Het |
Cep164 |
A |
G |
9: 45,680,761 (GRCm39) |
L1240S |
possibly damaging |
Het |
Cnga1 |
T |
A |
5: 72,761,918 (GRCm39) |
D532V |
probably damaging |
Het |
Cyp4a14 |
A |
T |
4: 115,353,297 (GRCm39) |
L5* |
probably null |
Het |
Cyp4a30b |
A |
T |
4: 115,316,588 (GRCm39) |
K405* |
probably null |
Het |
Dchs1 |
T |
C |
7: 105,403,302 (GRCm39) |
D3080G |
probably benign |
Het |
Ddx1 |
T |
C |
12: 13,287,800 (GRCm39) |
D168G |
probably damaging |
Het |
Dhx57 |
T |
G |
17: 80,553,235 (GRCm39) |
K1231Q |
probably damaging |
Het |
Dnah14 |
A |
G |
1: 181,597,670 (GRCm39) |
N3640D |
probably benign |
Het |
Dock4 |
T |
A |
12: 40,805,833 (GRCm39) |
L935Q |
probably damaging |
Het |
Dus2 |
A |
T |
8: 106,772,698 (GRCm39) |
R269S |
probably benign |
Het |
E230025N22Rik |
G |
A |
18: 36,822,161 (GRCm39) |
R201C |
possibly damaging |
Het |
Erbb3 |
G |
A |
10: 128,419,054 (GRCm39) |
T269M |
probably damaging |
Het |
Fbxo43 |
T |
C |
15: 36,162,239 (GRCm39) |
R323G |
probably damaging |
Het |
Fktn |
A |
G |
4: 53,735,061 (GRCm39) |
H233R |
probably benign |
Het |
Ftsj3 |
A |
T |
11: 106,143,077 (GRCm39) |
D412E |
probably damaging |
Het |
Fzd7 |
A |
T |
1: 59,523,703 (GRCm39) |
M529L |
probably benign |
Het |
Fzr1 |
T |
A |
10: 81,206,660 (GRCm39) |
|
probably null |
Het |
Ganc |
T |
G |
2: 120,261,086 (GRCm39) |
V257G |
possibly damaging |
Het |
Garin1a |
T |
A |
6: 29,290,423 (GRCm39) |
L267* |
probably null |
Het |
Gm4131 |
T |
C |
14: 62,702,207 (GRCm39) |
K254E |
probably damaging |
Het |
Gm7347 |
G |
T |
5: 26,262,247 (GRCm39) |
Y91* |
probably null |
Het |
Gm9857 |
G |
A |
3: 108,847,481 (GRCm39) |
|
probably benign |
Het |
Grpel1 |
T |
C |
5: 36,622,592 (GRCm39) |
S19P |
probably benign |
Het |
Gtf3c4 |
T |
C |
2: 28,723,723 (GRCm39) |
K670E |
possibly damaging |
Het |
H2bc7 |
G |
A |
13: 23,758,277 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
G |
T |
1: 150,579,924 (GRCm39) |
Q1938K |
possibly damaging |
Het |
Hnrnpk |
T |
C |
13: 58,546,971 (GRCm39) |
D71G |
probably damaging |
Het |
Hspa4l |
G |
A |
3: 40,722,411 (GRCm39) |
R311H |
probably damaging |
Het |
Igkv3-5 |
T |
A |
6: 70,640,688 (GRCm39) |
F56L |
probably benign |
Het |
Igkv6-20 |
T |
A |
6: 70,312,898 (GRCm39) |
T92S |
possibly damaging |
Het |
Krt8 |
C |
T |
15: 101,909,029 (GRCm39) |
V200I |
possibly damaging |
Het |
Lamb2 |
A |
T |
9: 108,357,587 (GRCm39) |
T66S |
possibly damaging |
Het |
Lamp3 |
A |
G |
16: 19,519,778 (GRCm39) |
L135S |
probably benign |
Het |
Lrguk |
A |
G |
6: 34,106,078 (GRCm39) |
Y701C |
probably damaging |
Het |
Mcidas |
T |
A |
13: 113,135,120 (GRCm39) |
L234Q |
probably damaging |
Het |
Mtmr14 |
T |
A |
6: 113,257,575 (GRCm39) |
L208Q |
probably damaging |
Het |
Myof |
A |
G |
19: 37,893,747 (GRCm39) |
F1139L |
possibly damaging |
Het |
Nlrp14 |
C |
A |
7: 106,781,703 (GRCm39) |
T300K |
probably benign |
Het |
Or2d36 |
A |
T |
7: 106,746,535 (GRCm39) |
E4V |
possibly damaging |
Het |
Or2m13 |
T |
A |
16: 19,226,694 (GRCm39) |
H24L |
probably benign |
Het |
Or5b118 |
A |
G |
19: 13,448,870 (GRCm39) |
I179V |
probably benign |
Het |
Or8b41 |
A |
T |
9: 38,055,097 (GRCm39) |
Y217F |
probably damaging |
Het |
Orc2 |
A |
G |
1: 58,511,547 (GRCm39) |
I354T |
probably damaging |
Het |
Pard3b |
G |
T |
1: 62,115,568 (GRCm39) |
S140I |
probably damaging |
Het |
Pcgf5 |
A |
G |
19: 36,412,003 (GRCm39) |
D49G |
probably benign |
Het |
Pcsk6 |
T |
C |
7: 65,609,041 (GRCm39) |
F388S |
probably damaging |
Het |
Prokr2 |
A |
C |
2: 132,223,362 (GRCm39) |
I60S |
probably damaging |
Het |
Rab33b |
A |
G |
3: 51,391,900 (GRCm39) |
T50A |
possibly damaging |
Het |
Rbms3 |
T |
C |
9: 116,548,457 (GRCm39) |
D61G |
probably damaging |
Het |
Rhcg |
T |
A |
7: 79,250,262 (GRCm39) |
K274* |
probably null |
Het |
Rnf112 |
C |
T |
11: 61,341,848 (GRCm39) |
V319M |
possibly damaging |
Het |
Rnf44 |
A |
T |
13: 54,830,613 (GRCm39) |
S265T |
possibly damaging |
Het |
Sf3a3 |
A |
G |
4: 124,615,851 (GRCm39) |
D168G |
probably damaging |
Het |
Sik2 |
A |
G |
9: 50,806,642 (GRCm39) |
|
probably null |
Het |
Slco1a5 |
T |
A |
6: 142,198,839 (GRCm39) |
L275F |
probably benign |
Het |
Smtnl1 |
T |
C |
2: 84,645,722 (GRCm39) |
H383R |
probably damaging |
Het |
Spns3 |
T |
G |
11: 72,429,904 (GRCm39) |
T175P |
probably damaging |
Het |
Togaram1 |
A |
G |
12: 65,042,312 (GRCm39) |
T1174A |
probably benign |
Het |
Tradd |
C |
T |
8: 105,987,277 (GRCm39) |
E10K |
possibly damaging |
Het |
Ttc7b |
A |
T |
12: 100,339,819 (GRCm39) |
Y579N |
probably damaging |
Het |
Uncx |
G |
A |
5: 139,533,344 (GRCm39) |
G470R |
probably damaging |
Het |
Vav3 |
T |
A |
3: 109,408,777 (GRCm39) |
M177K |
probably damaging |
Het |
Wfs1 |
A |
T |
5: 37,125,094 (GRCm39) |
I599N |
probably damaging |
Het |
Zfp454 |
G |
A |
11: 50,764,449 (GRCm39) |
H217Y |
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 |
|
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 |
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'- AGAGGCCATTGTCCAGAAC -3'
(R):5'- ACAGAGTCTAGTGGTGATAACTTGG -3'
Sequencing Primer
(F):5'- TGCTGTCATGCTCACAGAG -3'
(R):5'- ACTTGGAAACATGGAGTCTCTC -3'
|
Posted On |
2017-06-26 |