Incidental Mutation 'R7475:Mcc'
| ID |
579456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcc
|
| Ensembl Gene |
ENSMUSG00000071856 |
| Gene Name |
mutated in colorectal cancers |
| Synonyms |
D18Ertd451e |
| MMRRC Submission |
045549-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7475 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
44558127-44945249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 44609303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 499
(A499D)
|
| 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: A499D
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000087318
Gene: ENSMUSG00000071856
AA Change: A499D
| 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 |
possibly damaging
Transcript: ENSMUST00000164666
AA Change: A324D
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128032
Gene: ENSMUSG00000071856
AA Change: A324D
| 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: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
99% (77/78) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
G |
T |
16: 20,218,739 (GRCm39) |
N214K |
probably benign |
Het |
| Abcf1 |
A |
G |
17: 36,274,459 (GRCm39) |
|
probably null |
Het |
| Agxt2 |
A |
T |
15: 10,409,623 (GRCm39) |
M508L |
probably benign |
Het |
| Akr1c21 |
A |
T |
13: 4,626,318 (GRCm39) |
Y114F |
probably benign |
Het |
| Amz1 |
T |
C |
5: 140,729,941 (GRCm39) |
|
probably null |
Het |
| Ank1 |
G |
T |
8: 23,622,646 (GRCm39) |
A1732S |
probably benign |
Het |
| Atg16l1 |
T |
C |
1: 87,687,805 (GRCm39) |
S50P |
possibly damaging |
Het |
| AW551984 |
A |
G |
9: 39,509,236 (GRCm39) |
S302P |
probably damaging |
Het |
| Ccn6 |
T |
A |
10: 39,034,296 (GRCm39) |
Y102F |
probably damaging |
Het |
| Ces3a |
T |
A |
8: 105,780,322 (GRCm39) |
|
probably null |
Het |
| Dedd |
C |
A |
1: 171,167,881 (GRCm39) |
P185Q |
probably benign |
Het |
| Fam186a |
A |
T |
15: 99,845,395 (GRCm39) |
V283E |
unknown |
Het |
| Fat2 |
C |
A |
11: 55,194,479 (GRCm39) |
V1187F |
probably benign |
Het |
| Fbxw11 |
T |
C |
11: 32,661,999 (GRCm39) |
|
probably null |
Het |
| Fcgbp |
C |
T |
7: 27,802,401 (GRCm39) |
T1443I |
probably damaging |
Het |
| Foxj2 |
A |
G |
6: 122,814,801 (GRCm39) |
D279G |
probably benign |
Het |
| Gbp5 |
A |
G |
3: 142,207,122 (GRCm39) |
D97G |
probably damaging |
Het |
| Gm49368 |
A |
T |
7: 127,707,154 (GRCm39) |
T661S |
possibly damaging |
Het |
| Gria4 |
T |
G |
9: 4,513,330 (GRCm39) |
T260P |
probably damaging |
Het |
| Gtf2ird2 |
T |
A |
5: 134,230,267 (GRCm39) |
D195E |
possibly damaging |
Het |
| Hectd4 |
T |
A |
5: 121,496,196 (GRCm39) |
|
probably null |
Het |
| Ifngr2 |
G |
A |
16: 91,354,797 (GRCm39) |
C32Y |
unknown |
Het |
| Ikzf5 |
A |
T |
7: 130,993,788 (GRCm39) |
C280S |
probably benign |
Het |
| Ints9 |
G |
T |
14: 65,263,914 (GRCm39) |
E395D |
probably null |
Het |
| Isoc2b |
T |
C |
7: 4,854,084 (GRCm39) |
D96G |
probably benign |
Het |
| Jmjd1c |
T |
G |
10: 67,061,092 (GRCm39) |
S967R |
probably benign |
Het |
| Kcnj3 |
A |
T |
2: 55,327,338 (GRCm39) |
K42N |
probably benign |
Het |
| Kiz |
T |
C |
2: 146,733,006 (GRCm39) |
V394A |
possibly damaging |
Het |
| Knl1 |
A |
T |
2: 118,918,027 (GRCm39) |
H1795L |
probably damaging |
Het |
| Lmntd2 |
A |
G |
7: 140,790,602 (GRCm39) |
|
probably null |
Het |
| Loxhd1 |
C |
A |
18: 77,500,001 (GRCm39) |
D1690E |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 41,234,588 (GRCm39) |
D1121G |
|
Het |
| Map3k2 |
T |
C |
18: 32,333,015 (GRCm39) |
V63A |
possibly damaging |
Het |
| Mcpt9 |
T |
A |
14: 56,264,400 (GRCm39) |
I232F |
probably damaging |
Het |
| Meltf |
A |
G |
16: 31,700,756 (GRCm39) |
K92R |
probably benign |
Het |
| Mff |
T |
A |
1: 82,723,159 (GRCm39) |
|
probably null |
Het |
| Mrgpra3 |
T |
A |
7: 47,239,695 (GRCm39) |
Y77F |
probably damaging |
Het |
| Mylk |
G |
A |
16: 34,734,446 (GRCm39) |
|
probably null |
Het |
| Ndufv2 |
A |
G |
17: 66,394,532 (GRCm39) |
V111A |
possibly damaging |
Het |
| Nkd2 |
T |
C |
13: 73,973,861 (GRCm39) |
E99G |
probably damaging |
Het |
| Nlk |
C |
A |
11: 78,474,225 (GRCm39) |
G358V |
probably damaging |
Het |
| Nnmt |
A |
T |
9: 48,503,532 (GRCm39) |
C165S |
probably damaging |
Het |
| Nxpe4 |
T |
A |
9: 48,304,640 (GRCm39) |
C242* |
probably null |
Het |
| Oas1b |
A |
T |
5: 120,955,705 (GRCm39) |
N162I |
probably damaging |
Het |
| Or4s2 |
A |
G |
2: 88,473,554 (GRCm39) |
I148V |
probably benign |
Het |
| Otog |
A |
G |
7: 45,916,700 (GRCm39) |
N879S |
probably damaging |
Het |
| Pcsk7 |
T |
A |
9: 45,838,923 (GRCm39) |
Y612N |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pgbd5 |
T |
C |
8: 125,160,750 (GRCm39) |
D39G |
probably benign |
Het |
| Pkhd1l1 |
C |
T |
15: 44,368,581 (GRCm39) |
Q800* |
probably null |
Het |
| Pkn3 |
T |
C |
2: 29,977,122 (GRCm39) |
S621P |
probably benign |
Het |
| Polr3c |
T |
C |
3: 96,622,501 (GRCm39) |
I385V |
probably benign |
Het |
| Ppp1r21 |
G |
T |
17: 88,863,031 (GRCm39) |
G257W |
probably benign |
Het |
| Prkn |
A |
G |
17: 11,653,501 (GRCm39) |
D199G |
probably benign |
Het |
| Pxylp1 |
C |
T |
9: 96,738,420 (GRCm39) |
|
probably null |
Het |
| Rasgrp1 |
T |
C |
2: 117,116,589 (GRCm39) |
T613A |
probably benign |
Het |
| Robo3 |
C |
T |
9: 37,336,674 (GRCm39) |
V387I |
probably benign |
Het |
| Rxfp2 |
T |
A |
5: 149,973,046 (GRCm39) |
Y174N |
possibly damaging |
Het |
| Sec24a |
T |
C |
11: 51,604,379 (GRCm39) |
M746V |
probably damaging |
Het |
| Sema4f |
T |
A |
6: 82,891,355 (GRCm39) |
E571D |
possibly damaging |
Het |
| Septin3 |
T |
C |
15: 82,170,657 (GRCm39) |
V217A |
probably benign |
Het |
| Serpinb1b |
A |
C |
13: 33,277,548 (GRCm39) |
K260N |
probably benign |
Het |
| Sin3b |
A |
G |
8: 73,476,500 (GRCm39) |
T645A |
possibly damaging |
Het |
| Sobp |
C |
T |
10: 42,897,830 (GRCm39) |
R585Q |
probably damaging |
Het |
| Specc1l |
T |
A |
10: 75,082,281 (GRCm39) |
L559Q |
possibly damaging |
Het |
| Srxn1 |
C |
T |
2: 151,947,573 (GRCm39) |
|
probably benign |
Het |
| Sspo |
G |
A |
6: 48,432,794 (GRCm39) |
R890Q |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,518,591 (GRCm39) |
D505G |
probably damaging |
Het |
| Tjp1 |
A |
T |
7: 64,972,087 (GRCm39) |
I653K |
probably damaging |
Het |
| Tnks |
C |
T |
8: 35,298,866 (GRCm39) |
E1296K |
probably damaging |
Het |
| Ttbk2 |
A |
T |
2: 120,579,121 (GRCm39) |
I667N |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,199,550 (GRCm39) |
S165P |
possibly damaging |
Het |
| Usp46 |
T |
A |
5: 74,189,598 (GRCm39) |
K109* |
probably null |
Het |
| Vmn1r191 |
A |
G |
13: 22,362,942 (GRCm39) |
C271R |
probably benign |
Het |
| Zfp592 |
T |
C |
7: 80,673,200 (GRCm39) |
S55P |
probably damaging |
Het |
| Zmynd15 |
T |
C |
11: 70,351,867 (GRCm39) |
S158P |
probably benign |
Het |
| Zscan22 |
T |
G |
7: 12,640,664 (GRCm39) |
C303G |
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 |
|
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 |
|
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'- TAATGAGACCCGGTGTACAGG -3'
(R):5'- AACTGCCAACTCTGTCTAAAGGG -3'
Sequencing Primer
(F):5'- TGTACAGGTTGCCTCTAAGAGAG -3'
(R):5'- GCCAACTCTGTCTAAAGGGATTATG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation