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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |