Incidental Mutation 'R4404:Mcc'
ID 326774
Institutional Source Beutler Lab
Gene Symbol Mcc
Ensembl Gene ENSMUSG00000071856
Gene Name mutated in colorectal cancers
Synonyms D18Ertd451e
MMRRC Submission 041133-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4404 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 44558127-44945249 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44892365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 83 (T83M)
Ref Sequence ENSEMBL: ENSMUSP00000087318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089874]
AlphaFold E9PWI3
Predicted Effect probably benign
Transcript: ENSMUST00000089874
AA Change: T83M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087318
Gene: ENSMUSG00000071856
AA Change: T83M

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc188 A G 16: 18,036,284 (GRCm39) Q153R probably damaging Het
Cimap3 G A 3: 105,908,684 (GRCm39) P7L probably benign Het
Dop1a T A 9: 86,404,866 (GRCm39) L1721* probably null Het
Fcsk T A 8: 111,616,933 (GRCm39) T406S probably benign Het
Fer A T 17: 64,248,284 (GRCm39) probably null Het
Gprc6a T C 10: 51,504,639 (GRCm39) I68M probably benign Het
Gria4 A T 9: 4,464,489 (GRCm39) probably null Het
Gtf3c4 T C 2: 28,716,761 (GRCm39) D813G probably damaging Het
Hars2 G T 18: 36,918,989 (GRCm39) C83F probably damaging Het
Htr6 A G 4: 138,789,513 (GRCm39) S251P probably benign Het
Igsf10 T C 3: 59,236,972 (GRCm39) T1070A probably benign Het
Il22ra1 A T 4: 135,464,742 (GRCm39) E149D possibly damaging Het
Lama3 G A 18: 12,715,588 (GRCm39) M1681I probably benign Het
Loxhd1 G A 18: 77,518,828 (GRCm39) G1878D probably damaging Het
Nol11 A T 11: 107,064,551 (GRCm39) C468S probably damaging Het
Nomo1 A G 7: 45,706,092 (GRCm39) N482S probably benign Het
Npy5r C T 8: 67,134,644 (GRCm39) V50I probably benign Het
Or8g21 T C 9: 38,905,865 (GRCm39) I289V possibly damaging Het
Pam T C 1: 97,782,446 (GRCm39) probably benign Het
Pank4 C T 4: 155,064,613 (GRCm39) T724I probably benign Het
Pramel34 T A 5: 93,785,572 (GRCm39) H236L possibly damaging Het
Sertm1 C T 3: 54,806,746 (GRCm39) C93Y probably damaging Het
Slc22a2 A G 17: 12,833,651 (GRCm39) T444A probably damaging Het
Trpm7 C A 2: 126,675,635 (GRCm39) L489F probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Usp25 A C 16: 76,912,341 (GRCm39) K1020T probably damaging Het
Vmn2r76 T C 7: 85,877,511 (GRCm39) T511A probably benign Het
Zdhhc15 G A X: 103,604,294 (GRCm39) R322* probably null 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
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
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'- GACCACTTAGATGTAATGTAGTAGGG -3'
(R):5'- TCCTGGAAGCAGTGAGAACG -3'

Sequencing Primer
(F):5'- TGTAATGTAGTAGGGACAATGGGGC -3'
(R):5'- TGGAAGCAGTGAGAACGTTTAATATC -3'
Posted On 2015-07-07