Incidental Mutation 'R0218:Mcc'
ID 33691
Institutional Source Beutler Lab
Gene Symbol Mcc
Ensembl Gene ENSMUSG00000071856
Gene Name mutated in colorectal cancers
Synonyms D18Ertd451e
MMRRC Submission 038467-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0218 (G1)
Quality Score 225
Status Not validated
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency 98% (53/54)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T G 8: 44,079,477 (GRCm39) Q249P probably benign Het
Adgrv1 C T 13: 81,255,017 (GRCm39) probably null Het
Ccdc110 A G 8: 46,387,761 (GRCm39) probably benign Het
Cd200r1 T A 16: 44,609,106 (GRCm39) probably benign Het
Cdkl1 A T 12: 69,836,809 (GRCm39) D40E probably benign Het
Cdx1 A G 18: 61,153,436 (GRCm39) probably benign Het
Cenpp T A 13: 49,801,108 (GRCm39) K103N possibly damaging Het
Cep162 A G 9: 87,093,862 (GRCm39) Y839H possibly damaging Het
Chac1 T A 2: 119,183,941 (GRCm39) L181* probably null Het
Ciapin1 G T 8: 95,554,938 (GRCm39) Q173K probably damaging Het
Cmklr2 T A 1: 63,222,690 (GRCm39) N182Y probably benign Het
Dgcr2 A G 16: 17,667,650 (GRCm39) C270R probably damaging Het
Dlc1 A G 8: 37,317,383 (GRCm39) S431P probably benign Het
Efcab12 T C 6: 115,791,611 (GRCm39) probably benign Het
Ehbp1 A T 11: 22,181,992 (GRCm39) probably benign Het
Enpp3 A T 10: 24,652,767 (GRCm39) V730D possibly damaging Het
Fam174b A G 7: 73,390,512 (GRCm39) T88A probably benign Het
Fancl A G 11: 26,421,337 (GRCm39) K364E probably benign Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Galc A G 12: 98,188,906 (GRCm39) Y402H probably damaging Het
Gga2 T C 7: 121,598,123 (GRCm39) N324D possibly damaging Het
Hc G T 2: 34,918,086 (GRCm39) F732L probably damaging Het
Heca T C 10: 17,791,463 (GRCm39) M198V probably benign Het
Herc6 C A 6: 57,596,586 (GRCm39) H509N probably benign Het
Irf2bpl A T 12: 86,929,398 (GRCm39) M425K probably benign Het
Mael C T 1: 166,066,159 (GRCm39) G26D probably damaging Het
Map1a A G 2: 121,135,906 (GRCm39) T2241A probably benign Het
Mdga2 A G 12: 66,701,894 (GRCm39) S505P probably damaging Het
Mdm1 A G 10: 117,992,783 (GRCm39) probably benign Het
Mex3b A T 7: 82,518,312 (GRCm39) E209V probably damaging Het
Mrgprx3-ps T C 7: 46,959,154 (GRCm39) E279G possibly damaging Het
Ms4a20 A T 19: 11,093,801 (GRCm39) Y10* probably null Het
Nfe2l1 A T 11: 96,718,439 (GRCm39) L32Q probably damaging Het
Npas1 C T 7: 16,195,818 (GRCm39) V285I probably benign Het
Or5e1 T A 7: 108,354,781 (GRCm39) C239* probably null Het
Or5h19 C T 16: 58,856,456 (GRCm39) V215I probably benign Het
Or9i14 T C 19: 13,792,342 (GRCm39) N204S probably benign Het
Osr1 A G 12: 9,629,639 (GRCm39) T171A probably benign Het
Ppp3cb A T 14: 20,574,044 (GRCm39) C265S probably damaging Het
Pramel27 A G 4: 143,578,401 (GRCm39) I220M probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Simc1 T C 13: 54,674,417 (GRCm39) Y922H probably damaging Het
Slc25a39 A G 11: 102,297,056 (GRCm39) F56L probably benign Het
Smg8 A G 11: 86,976,948 (GRCm39) L211P probably damaging Het
Sncaip A G 18: 53,040,400 (GRCm39) S805G probably benign Het
Sra1 T C 18: 36,809,662 (GRCm39) probably benign Het
Tas2r104 T G 6: 131,662,055 (GRCm39) D218A probably damaging Het
Unc45b A G 11: 82,802,686 (GRCm39) probably benign Het
Unc79 A G 12: 103,075,040 (GRCm39) probably null Het
Washc2 T A 6: 116,225,007 (GRCm39) L785* probably null Het
Zfp30 A G 7: 29,493,063 (GRCm39) E439G probably damaging Het
Zfp518a A G 19: 40,901,072 (GRCm39) T334A probably benign Het
Other mutations in Mcc
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AAAGGCATCAGACTGTTGTCTGTCTC -3'
(R):5'- ACATAACCACATGTCCATCTTGTGCTC -3'

Sequencing Primer
(F):5'- GGGCATTCGCCTAGAACTTG -3'
(R):5'- GTCCATCTTGTGCTCTGTGTTC -3'
Posted On 2013-05-09