Incidental Mutation 'IGL03199:Macc1'
ID 412922
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 # IGL03199
Quality Score
Status
Chromosome 12
Chromosomal Location 119354133-119430669 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119410156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 308 (M308T)
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: M308T

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000042955
Gene: ENSMUSG00000041886
AA Change: M308T

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: M308T

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000221917
AA Change: M308T

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000222058
AA Change: M308T

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000222784
AA Change: M308T

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
Meta Mutation Damage Score 0.0972 question?
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T C 15: 81,946,556 (GRCm39) I151T possibly damaging Het
Alms1 T A 6: 85,599,479 (GRCm39) M1904K possibly damaging Het
Chsy3 T A 18: 59,309,473 (GRCm39) F242Y probably damaging Het
Cwf19l2 G A 9: 3,477,830 (GRCm39) G845D probably damaging Het
Cyfip2 A G 11: 46,167,670 (GRCm39) I244T probably benign Het
Dnah10 A T 5: 124,894,761 (GRCm39) Q3499L probably benign Het
Fat3 A G 9: 16,288,344 (GRCm39) V393A possibly damaging Het
Fcamr T A 1: 130,740,655 (GRCm39) V358D probably damaging Het
Fndc3c1 T A X: 105,479,993 (GRCm39) K696N possibly damaging Het
Igkv2-112 G A 6: 68,197,000 (GRCm39) M12I probably benign Het
Map4k1 A G 7: 28,682,842 (GRCm39) E16G probably damaging Het
Myl7 C T 11: 5,848,205 (GRCm39) G50R probably damaging Het
Ncapg2 T A 12: 116,382,856 (GRCm39) L229H probably damaging Het
Or10d4b A G 9: 39,535,240 (GRCm39) I272V probably benign Het
Prkcz A G 4: 155,357,441 (GRCm39) F157L possibly damaging Het
Sult2a1 C A 7: 13,566,585 (GRCm39) G130V probably damaging Het
Trim27 G A 13: 21,375,421 (GRCm39) probably null Het
Trim43b T G 9: 88,971,481 (GRCm39) Q225P probably damaging Het
Ugt2b34 A G 5: 87,054,739 (GRCm39) L14P unknown Het
Vmn1r209 A T 13: 22,990,220 (GRCm39) S157T possibly damaging Het
Vmn2r38 A T 7: 9,078,375 (GRCm39) V669D probably damaging Het
Vps35l T C 7: 118,365,611 (GRCm39) S15P probably benign Het
Zfp422 T C 6: 116,603,912 (GRCm39) Q29R probably benign Het
Zfp623 C T 15: 75,819,119 (GRCm39) A25V 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
IGL03246:Macc1 APN 12 119,410,420 (GRCm39) missense probably benign 0.00
IGL03265:Macc1 APN 12 119,410,711 (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