Incidental Mutation 'IGL01653:Macc1'
ID 102890
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Macc1
Ensembl Gene ENSMUSG00000041886
Gene Name metastasis associated in colon cancer 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL01653
Quality Score
Status
Chromosome 12
Chromosomal Location 119314270-119469987 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119450353 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 755 (K755E)
Ref Sequence ENSEMBL: ENSMUSP00000152677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048880] [ENSMUST00000221866] [ENSMUST00000221917] [ENSMUST00000222058] [ENSMUST00000222784]
AlphaFold E9PXX8
Predicted Effect probably damaging
Transcript: ENSMUST00000048880
AA Change: K755E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000042955
Gene: ENSMUSG00000041886
AA Change: K755E

DomainStartEndE-ValueType
low complexity region 127 141 N/A INTRINSIC
Pfam:ZU5 213 307 3.5e-10 PFAM
SH3 551 617 3.74e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000221866
AA Change: K755E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000221917
AA Change: K755E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000222058
AA Change: K755E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000222784
AA Change: K755E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MACC1 is a key regulator of the hepatocyte growth factor (HGF; MIM 142409)-HGF receptor (HGFR, or MET; MIM 164860) pathway, which is involved in cellular growth, epithelial-mesenchymal transition, angiogenesis, cell motility, invasiveness, and metastasis. Expression of MACC1 in colon cancer (MIM 114500) specimens is an independent prognostic indicator for metastasis formation and metastasis-free survival (Stein et al., 2009 [PubMed 19098908]).[supplied by OMIM, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik T C 7: 42,446,974 D119G probably damaging Het
5430403G16Rik A C 5: 109,677,316 Y89* probably null Het
Apol7c A G 15: 77,526,300 C149R probably damaging Het
Arfgef1 G A 1: 10,159,908 R1235* probably null Het
Bpifb4 A G 2: 153,944,783 D285G probably damaging Het
Cep192 T A 18: 67,852,972 H1682Q possibly damaging Het
Cerk G T 15: 86,149,351 Y290* probably null Het
Cyld A T 8: 88,741,370 I544F probably damaging Het
Dcp1a T C 14: 30,505,571 S134P possibly damaging Het
Epha6 A C 16: 59,839,303 N817K probably benign Het
Ephb4 A G 5: 137,365,741 probably benign Het
Fcgr3 A T 1: 171,059,280 L25Q probably damaging Het
Heatr3 A G 8: 88,144,617 I83V probably benign Het
Hormad1 T A 3: 95,578,297 N265K possibly damaging Het
Kpna1 A G 16: 36,020,192 T201A probably benign Het
Krt6b T A 15: 101,679,114 T182S probably damaging Het
Med12l C T 3: 59,261,893 T1568M probably damaging Het
Muc4 G T 16: 32,761,348 probably null Het
Myt1l T C 12: 29,910,771 S1028P unknown Het
Nhlrc2 C T 19: 56,570,850 R256C probably benign Het
Olfr1230 T A 2: 89,297,127 T48S probably benign Het
Olfr1441 G A 19: 12,422,372 R21H probably benign Het
Pfkfb4 G A 9: 108,999,134 R79H probably damaging Het
Piezo2 T C 18: 63,182,833 probably benign Het
Pramel5 C T 4: 144,273,859 R49H probably benign Het
Ralgapb T A 2: 158,462,159 S613T possibly damaging Het
Ryr1 T C 7: 29,078,597 E2158G probably damaging Het
Scgb2b19 T A 7: 33,279,728 Y43F probably damaging Het
Slc17a6 A G 7: 51,668,022 T468A possibly damaging Het
Slc36a1 A G 11: 55,228,321 D374G possibly damaging Het
Wdtc1 T C 4: 133,295,232 D601G probably damaging Het
Other mutations in Macc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00915:Macc1 APN 12 119447014 missense probably benign 0.16
IGL01515:Macc1 APN 12 119450371 missense probably damaging 1.00
IGL01638:Macc1 APN 12 119446511 missense probably benign 0.00
IGL01982:Macc1 APN 12 119445634 missense probably benign 0.12
IGL02177:Macc1 APN 12 119465557 missense probably damaging 1.00
IGL02263:Macc1 APN 12 119446017 missense possibly damaging 0.87
IGL03199:Macc1 APN 12 119446421 missense probably benign 0.24
IGL03246:Macc1 APN 12 119446685 missense probably benign 0.00
IGL03265:Macc1 APN 12 119446976 missense probably benign 0.00
IGL03306:Macc1 APN 12 119446868 missense probably benign 0.00
IGL03307:Macc1 APN 12 119446420 missense probably benign
IGL03386:Macc1 APN 12 119445863 missense probably benign
PIT4366001:Macc1 UTSW 12 119446949 missense probably benign 0.01
PIT4431001:Macc1 UTSW 12 119446511 missense probably benign 0.00
R0033:Macc1 UTSW 12 119446341 missense probably benign 0.03
R0166:Macc1 UTSW 12 119447080 nonsense probably null
R0528:Macc1 UTSW 12 119447045 missense probably benign 0.09
R0688:Macc1 UTSW 12 119447003 missense probably damaging 0.96
R0725:Macc1 UTSW 12 119447516 nonsense probably null
R1356:Macc1 UTSW 12 119446555 missense probably benign 0.00
R1647:Macc1 UTSW 12 119446421 missense probably benign 0.24
R1648:Macc1 UTSW 12 119446421 missense probably benign 0.24
R1938:Macc1 UTSW 12 119445731 missense probably damaging 1.00
R2362:Macc1 UTSW 12 119447658 splice site probably benign
R2406:Macc1 UTSW 12 119465611 missense probably damaging 0.99
R3123:Macc1 UTSW 12 119447633 missense probably damaging 1.00
R3713:Macc1 UTSW 12 119446841 missense probably benign
R3915:Macc1 UTSW 12 119446816 missense probably benign 0.13
R5256:Macc1 UTSW 12 119446529 missense possibly damaging 0.87
R5329:Macc1 UTSW 12 119446477 missense probably damaging 1.00
R5555:Macc1 UTSW 12 119450375 missense probably benign 0.24
R5992:Macc1 UTSW 12 119447585 missense probably damaging 0.96
R6024:Macc1 UTSW 12 119450425 missense probably benign 0.01
R6064:Macc1 UTSW 12 119445665 missense probably benign 0.14
R6196:Macc1 UTSW 12 119446050 missense probably damaging 1.00
R6697:Macc1 UTSW 12 119447256 missense possibly damaging 0.73
R7046:Macc1 UTSW 12 119447038 missense probably benign 0.02
R7060:Macc1 UTSW 12 119447455 missense probably damaging 1.00
R7094:Macc1 UTSW 12 119450391 nonsense probably null
R7120:Macc1 UTSW 12 119445745 missense possibly damaging 0.87
R7496:Macc1 UTSW 12 119446999 missense possibly damaging 0.56
R7534:Macc1 UTSW 12 119447519 missense probably benign 0.45
R7591:Macc1 UTSW 12 119446658 missense probably damaging 0.99
R7715:Macc1 UTSW 12 119446256 missense possibly damaging 0.72
R7823:Macc1 UTSW 12 119447065 missense probably damaging 0.98
R8121:Macc1 UTSW 12 119446589 missense probably damaging 0.97
R8157:Macc1 UTSW 12 119445993 missense probably benign 0.04
R8185:Macc1 UTSW 12 119447159 missense probably damaging 0.98
R8530:Macc1 UTSW 12 119445739 missense probably damaging 0.98
R8548:Macc1 UTSW 12 119450356 missense probably benign 0.40
R8713:Macc1 UTSW 12 119443526 critical splice donor site probably benign
R8772:Macc1 UTSW 12 119447485 missense probably damaging 1.00
R8825:Macc1 UTSW 12 119445852 missense probably benign 0.19
R9018:Macc1 UTSW 12 119446206 missense possibly damaging 0.73
R9093:Macc1 UTSW 12 119446826 missense probably benign 0.04
R9126:Macc1 UTSW 12 119445976 missense probably benign 0.02
R9147:Macc1 UTSW 12 119450356 missense possibly damaging 0.92
R9148:Macc1 UTSW 12 119450356 missense possibly damaging 0.92
Posted On 2014-01-21