Incidental Mutation 'IGL01982:Macc1'
| ID |
182746 |
| 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 # |
IGL01982
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
119354133-119430669 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 119409369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 46
(P46T)
|
| 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: P46T
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000042955
Gene: ENSMUSG00000041886
AA Change: P46T
| 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: P46T
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221917
AA Change: P46T
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222058
AA Change: P46T
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222784
AA Change: P46T
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
C |
1: 71,385,857 (GRCm39) |
S254A |
probably benign |
Het |
| Abca7 |
T |
G |
10: 79,838,475 (GRCm39) |
L583R |
probably damaging |
Het |
| Acp1 |
A |
T |
12: 30,961,491 (GRCm39) |
L14H |
possibly damaging |
Het |
| Adar |
A |
G |
3: 89,645,397 (GRCm39) |
I3V |
probably benign |
Het |
| Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
| Aldh1l1 |
A |
G |
6: 90,536,845 (GRCm39) |
I103V |
probably benign |
Het |
| Asic3 |
C |
A |
5: 24,622,719 (GRCm39) |
T523N |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,419,326 (GRCm39) |
V1732A |
probably benign |
Het |
| Atad3a |
C |
T |
4: 155,838,384 (GRCm39) |
R211Q |
possibly damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,178,299 (GRCm39) |
Y2286C |
probably damaging |
Het |
| BC034090 |
T |
C |
1: 155,099,078 (GRCm39) |
E569G |
probably damaging |
Het |
| Bpifb3 |
A |
G |
2: 153,767,521 (GRCm39) |
N237S |
probably benign |
Het |
| Bysl |
C |
A |
17: 47,921,996 (GRCm39) |
|
probably null |
Het |
| C2cd6 |
T |
C |
1: 59,106,932 (GRCm39) |
|
probably benign |
Het |
| Ccdc141 |
A |
G |
2: 76,861,003 (GRCm39) |
F925L |
probably damaging |
Het |
| Cdca2 |
A |
T |
14: 67,915,168 (GRCm39) |
V697E |
probably damaging |
Het |
| Cers1 |
A |
G |
8: 70,776,081 (GRCm39) |
D324G |
probably damaging |
Het |
| Ctsq |
T |
A |
13: 61,186,732 (GRCm39) |
I91F |
probably benign |
Het |
| Ctsq |
C |
T |
13: 61,187,335 (GRCm39) |
C11Y |
probably benign |
Het |
| Cyp11b1 |
T |
C |
15: 74,711,252 (GRCm39) |
N142S |
possibly damaging |
Het |
| Cyp3a59 |
G |
T |
5: 146,041,545 (GRCm39) |
S363I |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,132,919 (GRCm39) |
D567E |
probably benign |
Het |
| Esf1 |
G |
A |
2: 140,006,448 (GRCm39) |
A233V |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,887,107 (GRCm39) |
I2630F |
possibly damaging |
Het |
| Fyb1 |
A |
T |
15: 6,609,658 (GRCm39) |
E77V |
probably null |
Het |
| Gjb6 |
C |
A |
14: 57,362,030 (GRCm39) |
W77L |
probably damaging |
Het |
| Gm21983 |
A |
G |
7: 26,879,703 (GRCm39) |
V88A |
possibly damaging |
Het |
| Gm8247 |
A |
G |
14: 44,823,088 (GRCm39) |
T52A |
probably damaging |
Het |
| Gpr108 |
T |
C |
17: 57,544,877 (GRCm39) |
K329E |
probably damaging |
Het |
| Gpr141 |
T |
A |
13: 19,935,908 (GRCm39) |
H289L |
probably benign |
Het |
| Ilvbl |
T |
C |
10: 78,414,856 (GRCm39) |
Y240H |
probably damaging |
Het |
| Kntc1 |
G |
A |
5: 123,947,159 (GRCm39) |
A1868T |
probably benign |
Het |
| Lrmda |
A |
C |
14: 22,634,550 (GRCm39) |
N112T |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,142,108 (GRCm39) |
Y1334C |
probably damaging |
Het |
| Madd |
A |
T |
2: 91,006,052 (GRCm39) |
F381Y |
probably damaging |
Het |
| Map3k20 |
C |
T |
2: 72,128,677 (GRCm39) |
Q38* |
probably null |
Het |
| Mcm4 |
A |
T |
16: 15,448,284 (GRCm39) |
D424E |
possibly damaging |
Het |
| Micu1 |
T |
A |
10: 59,699,100 (GRCm39) |
M463K |
possibly damaging |
Het |
| Mkrn2os |
A |
G |
6: 115,562,492 (GRCm39) |
L157P |
probably damaging |
Het |
| Nectin2 |
A |
G |
7: 19,451,487 (GRCm39) |
S516P |
probably damaging |
Het |
| Nme5 |
T |
A |
18: 34,702,928 (GRCm39) |
D120V |
probably damaging |
Het |
| Npy4r |
T |
C |
14: 33,869,282 (GRCm39) |
N2S |
possibly damaging |
Het |
| Nup107 |
A |
T |
10: 117,595,245 (GRCm39) |
|
probably benign |
Het |
| Omd |
T |
C |
13: 49,742,973 (GRCm39) |
Y8H |
possibly damaging |
Het |
| Phf8-ps |
T |
G |
17: 33,285,289 (GRCm39) |
E504D |
probably benign |
Het |
| Ppp1r15a |
T |
C |
7: 45,173,803 (GRCm39) |
|
probably benign |
Het |
| Ppp2ca |
T |
C |
11: 51,989,891 (GRCm39) |
F6L |
probably benign |
Het |
| Rab1a |
T |
C |
11: 20,174,717 (GRCm39) |
S97P |
probably benign |
Het |
| Ranbp3l |
G |
A |
15: 9,058,827 (GRCm39) |
G359R |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,334,094 (GRCm39) |
H3101L |
probably damaging |
Het |
| Slc27a4 |
T |
C |
2: 29,702,627 (GRCm39) |
F509S |
probably damaging |
Het |
| Slco4a1 |
T |
C |
2: 180,114,946 (GRCm39) |
V623A |
probably benign |
Het |
| Spart |
T |
A |
3: 55,035,911 (GRCm39) |
|
probably null |
Het |
| Sptan1 |
A |
G |
2: 29,909,980 (GRCm39) |
D1780G |
probably damaging |
Het |
| Tgm7 |
G |
T |
2: 120,924,106 (GRCm39) |
Y605* |
probably null |
Het |
| Tmem106b |
T |
C |
6: 13,071,968 (GRCm39) |
|
probably benign |
Het |
| Trak2 |
G |
A |
1: 58,965,814 (GRCm39) |
A120V |
possibly damaging |
Het |
| Trappc8 |
G |
A |
18: 21,007,769 (GRCm39) |
|
probably benign |
Het |
| Trim66 |
T |
C |
7: 109,057,970 (GRCm39) |
T973A |
probably benign |
Het |
| Ttyh3 |
C |
A |
5: 140,621,829 (GRCm39) |
|
probably benign |
Het |
| Ugt2b37 |
A |
C |
5: 87,390,291 (GRCm39) |
I385S |
probably damaging |
Het |
| Usf3 |
A |
G |
16: 44,039,180 (GRCm39) |
N1220S |
possibly damaging |
Het |
| Utrn |
A |
T |
10: 12,623,773 (GRCm39) |
I155N |
probably damaging |
Het |
| Vps13b |
C |
T |
15: 35,439,050 (GRCm39) |
Q377* |
probably null |
Het |
| Washc2 |
A |
T |
6: 116,213,150 (GRCm39) |
E570D |
probably benign |
Het |
| Wscd1 |
T |
C |
11: 71,657,699 (GRCm39) |
V168A |
possibly damaging |
Het |
| Zfp386 |
T |
A |
12: 116,022,788 (GRCm39) |
C169S |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation