Incidental Mutation 'R9517:Mcc'
| ID |
718684 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcc
|
| Ensembl Gene |
ENSMUSG00000071856 |
| Gene Name |
mutated in colorectal cancers |
| Synonyms |
D18Ertd451e |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9517 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
44558127-44945249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 44794794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 10
(G10C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089874]
[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 damaging
Transcript: ENSMUST00000164666
AA Change: G10C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128032
Gene: ENSMUSG00000071856
AA Change: G10C
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,113,528 (GRCm39) |
V264E |
probably damaging |
Het |
| Abca15 |
A |
G |
7: 119,987,424 (GRCm39) |
I1237V |
probably benign |
Het |
| Actn2 |
G |
T |
13: 12,295,317 (GRCm39) |
Q552K |
probably damaging |
Het |
| Adnp |
A |
T |
2: 168,024,866 (GRCm39) |
C810S |
possibly damaging |
Het |
| Aip |
A |
T |
19: 4,168,217 (GRCm39) |
I50K |
possibly damaging |
Het |
| Arsk |
A |
G |
13: 76,210,638 (GRCm39) |
S470P |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,407,167 (GRCm39) |
I2018K |
probably damaging |
Het |
| Aspn |
G |
A |
13: 49,705,275 (GRCm39) |
D46N |
|
Het |
| C6 |
G |
T |
15: 4,827,914 (GRCm39) |
C761F |
probably damaging |
Het |
| Cdk12 |
A |
T |
11: 98,109,910 (GRCm39) |
T644S |
unknown |
Het |
| Cela3a |
T |
A |
4: 137,131,825 (GRCm39) |
I123F |
probably damaging |
Het |
| Chchd3 |
A |
T |
6: 33,026,317 (GRCm39) |
S42T |
probably benign |
Het |
| Chst5 |
A |
G |
8: 112,616,652 (GRCm39) |
S323P |
possibly damaging |
Het |
| Clec4g |
C |
A |
8: 3,767,452 (GRCm39) |
A198S |
probably damaging |
Het |
| Dcbld2 |
T |
G |
16: 58,253,819 (GRCm39) |
D185E |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,915,440 (GRCm39) |
V4393A |
possibly damaging |
Het |
| Dock9 |
T |
C |
14: 121,829,236 (GRCm39) |
T1392A |
probably benign |
Het |
| Ell2 |
A |
G |
13: 75,912,106 (GRCm39) |
K464R |
possibly damaging |
Het |
| Eme2 |
G |
A |
17: 25,114,033 (GRCm39) |
|
probably benign |
Het |
| Eps8l1 |
T |
A |
7: 4,480,636 (GRCm39) |
I530N |
probably damaging |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Fbxw25 |
A |
G |
9: 109,480,892 (GRCm39) |
Y263H |
|
Het |
| Frem1 |
T |
C |
4: 82,901,714 (GRCm39) |
Y938C |
probably damaging |
Het |
| Gdf10 |
A |
G |
14: 33,654,522 (GRCm39) |
D343G |
probably benign |
Het |
| Gm3415 |
C |
T |
5: 146,493,406 (GRCm39) |
R84C |
possibly damaging |
Het |
| Hap1 |
A |
T |
11: 100,240,188 (GRCm39) |
V536D |
possibly damaging |
Het |
| Icos |
T |
C |
1: 61,032,894 (GRCm39) |
F31S |
probably damaging |
Het |
| Inpp5d |
T |
A |
1: 87,638,853 (GRCm39) |
S812T |
probably benign |
Het |
| Kcng4 |
A |
G |
8: 120,353,070 (GRCm39) |
V280A |
probably benign |
Het |
| Ldlr |
T |
C |
9: 21,655,240 (GRCm39) |
V623A |
possibly damaging |
Het |
| Lipc |
T |
C |
9: 70,709,560 (GRCm39) |
T396A |
probably benign |
Het |
| Lrit2 |
T |
A |
14: 36,794,272 (GRCm39) |
C445* |
probably null |
Het |
| Lrrc37 |
G |
A |
11: 103,433,416 (GRCm39) |
T3251I |
unknown |
Het |
| Mtfr1l |
T |
C |
4: 134,256,515 (GRCm39) |
T217A |
probably benign |
Het |
| Mtrr |
A |
T |
13: 68,728,730 (GRCm39) |
S23R |
probably benign |
Het |
| Myb |
C |
T |
10: 21,030,612 (GRCm39) |
D62N |
probably benign |
Het |
| Myo7a |
A |
T |
7: 97,721,166 (GRCm39) |
D1255E |
probably damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,725,406 (GRCm39) |
K453E |
probably damaging |
Het |
| Nrap |
A |
T |
19: 56,360,277 (GRCm39) |
M466K |
probably benign |
Het |
| Or10j3 |
C |
A |
1: 173,031,346 (GRCm39) |
A141D |
possibly damaging |
Het |
| Or11g26 |
C |
A |
14: 50,752,770 (GRCm39) |
F36L |
probably benign |
Het |
| Or4c106 |
G |
A |
2: 88,682,947 (GRCm39) |
V218I |
probably benign |
Het |
| Or4f54 |
T |
G |
2: 111,123,033 (GRCm39) |
M140R |
possibly damaging |
Het |
| Or8b41 |
T |
A |
9: 38,054,623 (GRCm39) |
M59K |
probably damaging |
Het |
| Osbpl1a |
A |
G |
18: 13,042,965 (GRCm39) |
V192A |
probably benign |
Het |
| Pgd |
T |
C |
4: 149,249,668 (GRCm39) |
T35A |
possibly damaging |
Het |
| Plcxd3 |
G |
T |
15: 4,405,160 (GRCm39) |
|
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,424,930 (GRCm39) |
D171V |
possibly damaging |
Het |
| Prmt7 |
A |
G |
8: 106,953,930 (GRCm39) |
T124A |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,489,117 (GRCm39) |
|
probably null |
Het |
| Rilpl2 |
A |
G |
5: 124,607,788 (GRCm39) |
V144A |
probably benign |
Het |
| Rin3 |
T |
C |
12: 102,334,895 (GRCm39) |
S269P |
unknown |
Het |
| Setbp1 |
T |
C |
18: 78,901,322 (GRCm39) |
S782G |
probably damaging |
Het |
| Sgce |
A |
T |
6: 4,694,153 (GRCm39) |
F268I |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,111,970 (GRCm39) |
L552S |
possibly damaging |
Het |
| Tent4a |
A |
G |
13: 69,655,059 (GRCm39) |
C472R |
probably damaging |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Vmn1r11 |
A |
G |
6: 57,114,555 (GRCm39) |
D73G |
possibly damaging |
Het |
| Vmn1r39 |
A |
C |
6: 66,782,258 (GRCm39) |
I20R |
possibly damaging |
Het |
| Vmn2r82 |
C |
T |
10: 79,213,641 (GRCm39) |
R76* |
probably null |
Het |
| Zhx1 |
A |
T |
15: 57,915,812 (GRCm39) |
Y811* |
probably null |
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 |
|
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 |
|
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'- AGCCAGTTCAGGTCAGATCC -3'
(R):5'- GACTTACGGTATCGAGCTTCTC -3'
Sequencing Primer
(F):5'- GGTCAGATCCTGAGTAGCAC -3'
(R):5'- ACGGTATCGAGCTTCTCCATCC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation