Incidental Mutation 'R1878:Mcc'
| ID |
211354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcc
|
| Ensembl Gene |
ENSMUSG00000071856 |
| Gene Name |
mutated in colorectal cancers |
| Synonyms |
D18Ertd451e |
| MMRRC Submission |
039899-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1878 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
44558127-44945249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44601467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 621
(R621G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089874]
[ENSMUST00000164666]
|
| AlphaFold |
E9PWI3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089874
AA Change: R621G
PolyPhen 2
Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000087318
Gene: ENSMUSG00000071856
AA Change: R621G
| 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
AA Change: R446G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128032
Gene: ENSMUSG00000071856
AA Change: R446G
| 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: 97.4%
- 3x: 96.8%
- 10x: 95.3%
- 20x: 92.6%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
G |
A |
17: 45,825,564 (GRCm39) |
|
probably null |
Het |
| Abcb9 |
A |
G |
5: 124,228,199 (GRCm39) |
V14A |
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,007,362 (GRCm39) |
D950G |
probably damaging |
Het |
| Ahctf1 |
T |
C |
1: 179,603,074 (GRCm39) |
D828G |
possibly damaging |
Het |
| Ak2 |
T |
A |
4: 128,895,960 (GRCm39) |
V79D |
probably damaging |
Het |
| Arhgap29 |
T |
C |
3: 121,805,020 (GRCm39) |
Y870H |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,134,363 (GRCm39) |
K1222E |
probably damaging |
Het |
| Armc1 |
A |
T |
3: 19,211,708 (GRCm39) |
D37E |
probably damaging |
Het |
| Cenpm |
A |
T |
15: 82,118,616 (GRCm39) |
M166K |
probably benign |
Het |
| Cep97 |
G |
T |
16: 55,725,589 (GRCm39) |
P766Q |
probably damaging |
Het |
| Col19a1 |
G |
T |
1: 24,356,476 (GRCm39) |
D672E |
probably benign |
Het |
| Col6a2 |
T |
C |
10: 76,450,622 (GRCm39) |
D103G |
probably benign |
Het |
| Ddi2 |
T |
C |
4: 141,411,460 (GRCm39) |
E484G |
probably benign |
Het |
| Dph1 |
T |
C |
11: 75,075,053 (GRCm39) |
D100G |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,348,831 (GRCm39) |
I100F |
possibly damaging |
Het |
| Fam222b |
T |
C |
11: 78,034,042 (GRCm39) |
|
probably null |
Het |
| Folh1 |
A |
T |
7: 86,420,950 (GRCm39) |
H126Q |
probably benign |
Het |
| Gapvd1 |
A |
T |
2: 34,615,212 (GRCm39) |
D428E |
probably benign |
Het |
| Gfus |
A |
G |
15: 75,797,218 (GRCm39) |
S306P |
probably benign |
Het |
| Gm11564 |
A |
T |
11: 99,706,266 (GRCm39) |
C55S |
unknown |
Het |
| Gne |
T |
C |
4: 44,040,434 (GRCm39) |
I577V |
probably damaging |
Het |
| Gpr4 |
A |
G |
7: 18,957,049 (GRCm39) |
T324A |
probably damaging |
Het |
| Hhipl1 |
A |
T |
12: 108,286,319 (GRCm39) |
N542I |
possibly damaging |
Het |
| Ice2 |
T |
C |
9: 69,335,858 (GRCm39) |
|
probably null |
Het |
| Irgm1 |
C |
T |
11: 48,756,897 (GRCm39) |
V305I |
probably benign |
Het |
| Itgal |
C |
A |
7: 126,909,843 (GRCm39) |
Q73K |
probably benign |
Het |
| Jcad |
C |
A |
18: 4,673,857 (GRCm39) |
H540N |
possibly damaging |
Het |
| Jkamp |
T |
A |
12: 72,140,878 (GRCm39) |
V141D |
possibly damaging |
Het |
| Lrrc9 |
T |
C |
12: 72,522,938 (GRCm39) |
|
probably null |
Het |
| Myd88 |
T |
A |
9: 119,167,686 (GRCm39) |
Q140L |
probably benign |
Het |
| Mylk3 |
A |
T |
8: 86,082,028 (GRCm39) |
N323K |
possibly damaging |
Het |
| Myrip |
C |
T |
9: 120,253,721 (GRCm39) |
R265W |
probably damaging |
Het |
| N4bp1 |
A |
T |
8: 87,588,169 (GRCm39) |
S256R |
probably damaging |
Het |
| Nhsl1 |
T |
G |
10: 18,400,027 (GRCm39) |
S418A |
probably damaging |
Het |
| Nlrp9b |
A |
G |
7: 19,762,489 (GRCm39) |
T269A |
probably benign |
Het |
| Nmt1 |
A |
G |
11: 102,943,077 (GRCm39) |
N144S |
probably benign |
Het |
| Npvf |
G |
A |
6: 50,631,303 (GRCm39) |
T24I |
probably benign |
Het |
| Obscn |
T |
G |
11: 58,886,379 (GRCm39) |
Y2347S |
probably damaging |
Het |
| Or10d5 |
T |
A |
9: 39,862,053 (GRCm39) |
T5S |
probably benign |
Het |
| Or14j1 |
T |
C |
17: 38,146,253 (GRCm39) |
V121A |
probably benign |
Het |
| Or1j16 |
G |
T |
2: 36,530,201 (GRCm39) |
R50M |
possibly damaging |
Het |
| Or2aj5 |
G |
T |
16: 19,424,501 (GRCm39) |
Q306K |
probably benign |
Het |
| Or2n1c |
T |
C |
17: 38,519,265 (GRCm39) |
I43T |
probably benign |
Het |
| Or4c105 |
A |
G |
2: 88,647,805 (GRCm39) |
T97A |
probably benign |
Het |
| Or51v8 |
A |
C |
7: 103,319,389 (GRCm39) |
M283R |
probably damaging |
Het |
| Or7a42 |
T |
A |
10: 78,791,639 (GRCm39) |
M200K |
possibly damaging |
Het |
| Osgin2 |
A |
T |
4: 16,005,493 (GRCm39) |
V131D |
probably damaging |
Het |
| Pcdhac2 |
A |
T |
18: 37,278,215 (GRCm39) |
K398N |
possibly damaging |
Het |
| Pcnp |
A |
T |
16: 55,838,850 (GRCm39) |
M143K |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,503,639 (GRCm39) |
I71V |
probably benign |
Het |
| Ppp4c |
G |
T |
7: 126,386,779 (GRCm39) |
R103S |
probably damaging |
Het |
| Prl2c2 |
T |
A |
13: 13,179,911 (GRCm39) |
M1L |
probably damaging |
Het |
| Recql5 |
A |
T |
11: 115,785,927 (GRCm39) |
D615E |
probably benign |
Het |
| Robo3 |
T |
C |
9: 37,333,461 (GRCm39) |
E728G |
probably damaging |
Het |
| Rps27l |
T |
A |
9: 66,854,911 (GRCm39) |
|
probably null |
Het |
| Scube3 |
T |
A |
17: 28,371,387 (GRCm39) |
V34E |
probably benign |
Het |
| Sez6l |
A |
G |
5: 112,623,089 (GRCm39) |
I154T |
probably damaging |
Het |
| Sgsm1 |
G |
A |
5: 113,411,381 (GRCm39) |
L782F |
probably damaging |
Het |
| Slc35c1 |
A |
G |
2: 92,289,398 (GRCm39) |
V36A |
probably benign |
Het |
| Snapc4 |
A |
G |
2: 26,266,165 (GRCm39) |
|
probably null |
Het |
| Sohlh2 |
C |
A |
3: 55,115,064 (GRCm39) |
R350S |
probably damaging |
Het |
| Spag1 |
G |
A |
15: 36,181,916 (GRCm39) |
E25K |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,436,300 (GRCm39) |
A1217T |
possibly damaging |
Het |
| Stil |
T |
C |
4: 114,898,423 (GRCm39) |
S1018P |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,984,755 (GRCm39) |
E117G |
possibly damaging |
Het |
| Syt17 |
A |
T |
7: 118,033,468 (GRCm39) |
M180K |
probably benign |
Het |
| Trem1 |
T |
C |
17: 48,548,516 (GRCm39) |
S18P |
possibly damaging |
Het |
| Umad1 |
T |
A |
6: 8,427,181 (GRCm39) |
F145I |
probably damaging |
Het |
| Unc80 |
A |
C |
1: 66,548,561 (GRCm39) |
H611P |
probably damaging |
Het |
| Zfp1004 |
T |
A |
2: 150,034,989 (GRCm39) |
C437S |
probably damaging |
Het |
| Zfp709 |
A |
G |
8: 72,643,891 (GRCm39) |
E440G |
probably damaging |
Het |
| Zfp764 |
C |
A |
7: 127,004,214 (GRCm39) |
A306S |
probably benign |
Het |
| Zfp949 |
T |
A |
9: 88,451,356 (GRCm39) |
S309T |
probably damaging |
Het |
| Zswim4 |
T |
C |
8: 84,939,405 (GRCm39) |
N826D |
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 |
|
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'- GCTGTTGCAAGGACACTGAG -3'
(R):5'- CTACTTGCGAGTGAGACAAGTG -3'
Sequencing Primer
(F):5'- CTGACAACCTGGGTTCGAAATCTG -3'
(R):5'- CTTGCGAGTGAGACAAGTGATATATC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation