Incidental Mutation 'IGL03265:Macc1'
ID 415050
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Macc1
Ensembl Gene ENSMUSG00000041886
Gene Name metastasis associated in colon cancer 1
Synonyms 4732474O15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # IGL03265
Quality Score
Status
Chromosome 12
Chromosomal Location 119354133-119430669 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119410711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 493 (N493S)
Ref Sequence ENSEMBL: ENSMUSP00000152677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048880] [ENSMUST00000221866] [ENSMUST00000221917] [ENSMUST00000222058] [ENSMUST00000222784]
AlphaFold E9PXX8
Predicted Effect probably benign
Transcript: ENSMUST00000048880
AA Change: N493S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000042955
Gene: ENSMUSG00000041886
AA Change: N493S

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 benign
Transcript: ENSMUST00000221866
AA Change: N493S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000221917
AA Change: N493S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000222058
AA Change: N493S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000222784
AA Change: N493S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a C A 11: 109,943,929 (GRCm39) M1113I probably benign Het
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Akr1a1 A G 4: 116,495,014 (GRCm39) M286T probably benign Het
Anapc1 T C 2: 128,469,117 (GRCm39) S1575G probably damaging Het
Apba2 A G 7: 64,345,071 (GRCm39) D87G probably damaging Het
Arhgap21 A G 2: 20,854,439 (GRCm39) F1641S probably benign Het
Atad2b T A 12: 5,074,628 (GRCm39) H1062Q probably benign Het
Bivm A G 1: 44,181,005 (GRCm39) R396G probably damaging Het
Bltp1 T A 3: 37,102,140 (GRCm39) D4777E probably benign Het
Bmi1 T A 2: 18,686,672 (GRCm39) M17K possibly damaging Het
Bptf T C 11: 106,945,454 (GRCm39) N2480S probably benign Het
Cacna2d3 T C 14: 28,674,243 (GRCm39) E944G probably damaging Het
Ces2a C T 8: 105,464,075 (GRCm39) H236Y possibly damaging Het
Dnah7a T C 1: 53,568,007 (GRCm39) D1863G probably benign Het
Dnajc17 C A 2: 119,016,199 (GRCm39) E91D probably benign Het
Dus2 C A 8: 106,760,423 (GRCm39) probably benign Het
Epha6 T C 16: 59,880,594 (GRCm39) probably benign Het
Erap1 A T 13: 74,812,246 (GRCm39) T354S probably damaging Het
Fbxo11 T C 17: 88,300,259 (GRCm39) H851R probably damaging Het
Gm20532 G A 2: 26,522,696 (GRCm39) C90Y unknown Het
Gpr21 T C 2: 37,408,086 (GRCm39) Y211H probably damaging Het
Hectd4 A G 5: 121,398,002 (GRCm39) probably benign Het
Hephl1 G A 9: 14,972,255 (GRCm39) T895I probably benign Het
Hey1 T C 3: 8,729,974 (GRCm39) Y161C probably benign Het
Kdr A G 5: 76,121,433 (GRCm39) Y526H probably damaging Het
Lpp A G 16: 24,580,737 (GRCm39) Y151C probably damaging Het
Or2t45 T C 11: 58,669,697 (GRCm39) V248A probably damaging Het
Or52s6 C A 7: 103,091,655 (GRCm39) R225L probably benign Het
Or5m10b T A 2: 85,699,494 (GRCm39) M186K possibly damaging Het
Or5t16 T A 2: 86,819,424 (GRCm39) Y32F probably damaging Het
Or6c1b A T 10: 129,272,794 (GRCm39) T38S possibly damaging Het
Pcdhb21 A G 18: 37,648,206 (GRCm39) D445G probably damaging Het
Prkra T C 2: 76,470,614 (GRCm39) N123D probably benign Het
Slc25a33 A C 4: 149,846,893 (GRCm39) L56R probably damaging Het
Usp36 A G 11: 118,155,635 (GRCm39) V714A possibly damaging Het
Vmn1r174 T A 7: 23,453,898 (GRCm39) L188* probably null Het
Vmn2r12 A G 5: 109,239,936 (GRCm39) V209A probably benign Het
Zfp809 A G 9: 22,154,339 (GRCm39) Y352C probably benign Het
Other mutations in Macc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00915:Macc1 APN 12 119,410,749 (GRCm39) missense probably benign 0.16
IGL01515:Macc1 APN 12 119,414,106 (GRCm39) missense probably damaging 1.00
IGL01638:Macc1 APN 12 119,410,246 (GRCm39) missense probably benign 0.00
IGL01653:Macc1 APN 12 119,414,088 (GRCm39) missense probably damaging 1.00
IGL01982:Macc1 APN 12 119,409,369 (GRCm39) missense probably benign 0.12
IGL02177:Macc1 APN 12 119,429,292 (GRCm39) missense probably damaging 1.00
IGL02263:Macc1 APN 12 119,409,752 (GRCm39) missense possibly damaging 0.87
IGL03199:Macc1 APN 12 119,410,156 (GRCm39) missense probably benign 0.24
IGL03246:Macc1 APN 12 119,410,420 (GRCm39) missense probably benign 0.00
IGL03306:Macc1 APN 12 119,410,603 (GRCm39) missense probably benign 0.00
IGL03307:Macc1 APN 12 119,410,155 (GRCm39) missense probably benign
IGL03386:Macc1 APN 12 119,409,598 (GRCm39) missense probably benign
PIT4366001:Macc1 UTSW 12 119,410,684 (GRCm39) missense probably benign 0.01
PIT4431001:Macc1 UTSW 12 119,410,246 (GRCm39) missense probably benign 0.00
R0033:Macc1 UTSW 12 119,410,076 (GRCm39) missense probably benign 0.03
R0166:Macc1 UTSW 12 119,410,815 (GRCm39) nonsense probably null
R0528:Macc1 UTSW 12 119,410,780 (GRCm39) missense probably benign 0.09
R0688:Macc1 UTSW 12 119,410,738 (GRCm39) missense probably damaging 0.96
R0725:Macc1 UTSW 12 119,411,251 (GRCm39) nonsense probably null
R1356:Macc1 UTSW 12 119,410,290 (GRCm39) missense probably benign 0.00
R1647:Macc1 UTSW 12 119,410,156 (GRCm39) missense probably benign 0.24
R1648:Macc1 UTSW 12 119,410,156 (GRCm39) missense probably benign 0.24
R1938:Macc1 UTSW 12 119,409,466 (GRCm39) missense probably damaging 1.00
R2362:Macc1 UTSW 12 119,411,393 (GRCm39) splice site probably benign
R2406:Macc1 UTSW 12 119,429,346 (GRCm39) missense probably damaging 0.99
R3123:Macc1 UTSW 12 119,411,368 (GRCm39) missense probably damaging 1.00
R3713:Macc1 UTSW 12 119,410,576 (GRCm39) missense probably benign
R3915:Macc1 UTSW 12 119,410,551 (GRCm39) missense probably benign 0.13
R5256:Macc1 UTSW 12 119,410,264 (GRCm39) missense possibly damaging 0.87
R5329:Macc1 UTSW 12 119,410,212 (GRCm39) missense probably damaging 1.00
R5555:Macc1 UTSW 12 119,414,110 (GRCm39) missense probably benign 0.24
R5992:Macc1 UTSW 12 119,411,320 (GRCm39) missense probably damaging 0.96
R6024:Macc1 UTSW 12 119,414,160 (GRCm39) missense probably benign 0.01
R6064:Macc1 UTSW 12 119,409,400 (GRCm39) missense probably benign 0.14
R6196:Macc1 UTSW 12 119,409,785 (GRCm39) missense probably damaging 1.00
R6697:Macc1 UTSW 12 119,410,991 (GRCm39) missense possibly damaging 0.73
R7046:Macc1 UTSW 12 119,410,773 (GRCm39) missense probably benign 0.02
R7060:Macc1 UTSW 12 119,411,190 (GRCm39) missense probably damaging 1.00
R7094:Macc1 UTSW 12 119,414,126 (GRCm39) nonsense probably null
R7120:Macc1 UTSW 12 119,409,480 (GRCm39) missense possibly damaging 0.87
R7496:Macc1 UTSW 12 119,410,734 (GRCm39) missense possibly damaging 0.56
R7534:Macc1 UTSW 12 119,411,254 (GRCm39) missense probably benign 0.45
R7591:Macc1 UTSW 12 119,410,393 (GRCm39) missense probably damaging 0.99
R7715:Macc1 UTSW 12 119,409,991 (GRCm39) missense possibly damaging 0.72
R7823:Macc1 UTSW 12 119,410,800 (GRCm39) missense probably damaging 0.98
R8121:Macc1 UTSW 12 119,410,324 (GRCm39) missense probably damaging 0.97
R8157:Macc1 UTSW 12 119,409,728 (GRCm39) missense probably benign 0.04
R8185:Macc1 UTSW 12 119,410,894 (GRCm39) missense probably damaging 0.98
R8530:Macc1 UTSW 12 119,409,474 (GRCm39) missense probably damaging 0.98
R8548:Macc1 UTSW 12 119,414,091 (GRCm39) missense probably benign 0.40
R8713:Macc1 UTSW 12 119,407,261 (GRCm39) critical splice donor site probably benign
R8772:Macc1 UTSW 12 119,411,220 (GRCm39) missense probably damaging 1.00
R8825:Macc1 UTSW 12 119,409,587 (GRCm39) missense probably benign 0.19
R9018:Macc1 UTSW 12 119,409,941 (GRCm39) missense possibly damaging 0.73
R9093:Macc1 UTSW 12 119,410,561 (GRCm39) missense probably benign 0.04
R9126:Macc1 UTSW 12 119,409,711 (GRCm39) missense probably benign 0.02
R9147:Macc1 UTSW 12 119,414,091 (GRCm39) missense possibly damaging 0.92
R9148:Macc1 UTSW 12 119,414,091 (GRCm39) missense possibly damaging 0.92
R9473:Macc1 UTSW 12 119,297,990 (GRCm39) intron probably benign
R9769:Macc1 UTSW 12 119,407,241 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02