Incidental Mutation 'R0725:Macc1'
ID |
218382 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Macc1
|
Ensembl Gene |
ENSMUSG00000041886 |
Gene Name |
metastasis associated in colon cancer 1 |
Synonyms |
4732474O15Rik |
MMRRC Submission |
038907-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R0725 (G1)
|
Quality Score |
46 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
119354133-119430669 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 119411251 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 673
(S673*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048880]
[ENSMUST00000221866]
[ENSMUST00000221917]
[ENSMUST00000222058]
[ENSMUST00000222784]
|
AlphaFold |
E9PXX8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000048880
AA Change: S673*
|
SMART Domains |
Protein: ENSMUSP00000042955 Gene: ENSMUSG00000041886 AA Change: S673*
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 null
Transcript: ENSMUST00000221866
AA Change: S673*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000221917
AA Change: S673*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000222058
AA Change: S673*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000222784
AA Change: S673*
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.7%
|
Validation Efficiency |
100% (70/70) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asph |
C |
T |
4: 9,542,275 (GRCm39) |
D305N |
probably damaging |
Het |
Atp13a3 |
T |
C |
16: 30,170,205 (GRCm39) |
K327R |
probably damaging |
Het |
Cacna1s |
T |
C |
1: 136,026,264 (GRCm39) |
|
probably benign |
Het |
Ccnk |
T |
C |
12: 108,161,834 (GRCm39) |
|
probably benign |
Het |
Cep55 |
T |
C |
19: 38,048,622 (GRCm39) |
S93P |
possibly damaging |
Het |
Cfap300 |
A |
T |
9: 8,027,144 (GRCm39) |
D131E |
probably damaging |
Het |
Cfh |
A |
G |
1: 140,085,081 (GRCm39) |
|
probably benign |
Het |
Clptm1l |
A |
G |
13: 73,754,462 (GRCm39) |
T129A |
probably benign |
Het |
Cntnap5a |
A |
G |
1: 116,220,206 (GRCm39) |
E672G |
probably benign |
Het |
Cpped1 |
C |
A |
16: 11,646,314 (GRCm39) |
W170L |
probably damaging |
Het |
Crygb |
T |
C |
1: 65,121,100 (GRCm39) |
I76V |
probably benign |
Het |
Cyp3a25 |
A |
G |
5: 145,931,746 (GRCm39) |
S121P |
probably damaging |
Het |
Cyp4b1 |
T |
C |
4: 115,484,024 (GRCm39) |
D395G |
probably damaging |
Het |
Dll4 |
T |
C |
2: 119,163,170 (GRCm39) |
V597A |
probably damaging |
Het |
Dock7 |
T |
C |
4: 98,833,528 (GRCm39) |
D1891G |
probably damaging |
Het |
Dsel |
T |
C |
1: 111,787,682 (GRCm39) |
D951G |
possibly damaging |
Het |
Dync2h1 |
C |
A |
9: 7,015,497 (GRCm39) |
V3603F |
possibly damaging |
Het |
Fam167b |
C |
A |
4: 129,472,078 (GRCm39) |
A31S |
probably damaging |
Het |
Fgfrl1 |
T |
A |
5: 108,852,539 (GRCm39) |
I25N |
probably damaging |
Het |
Gzf1 |
C |
T |
2: 148,526,569 (GRCm39) |
R347* |
probably null |
Het |
Heatr5b |
T |
A |
17: 79,103,825 (GRCm39) |
I1117F |
probably benign |
Het |
Kntc1 |
T |
C |
5: 123,907,767 (GRCm39) |
V456A |
possibly damaging |
Het |
Mpp4 |
T |
C |
1: 59,160,581 (GRCm39) |
E574G |
probably damaging |
Het |
Muc20 |
C |
T |
16: 32,613,858 (GRCm39) |
M506I |
probably benign |
Het |
Ncbp1 |
A |
G |
4: 46,152,056 (GRCm39) |
T218A |
probably benign |
Het |
Nfxl1 |
A |
T |
5: 72,716,473 (GRCm39) |
V46E |
probably benign |
Het |
Nfyc |
G |
T |
4: 120,625,931 (GRCm39) |
|
probably benign |
Het |
Niban1 |
A |
G |
1: 151,581,766 (GRCm39) |
E454G |
probably benign |
Het |
Or51f5 |
T |
A |
7: 102,423,739 (GRCm39) |
S3T |
probably benign |
Het |
Or8g55 |
A |
T |
9: 39,784,643 (GRCm39) |
Q24L |
probably damaging |
Het |
Osbpl8 |
T |
C |
10: 111,122,101 (GRCm39) |
F681S |
possibly damaging |
Het |
Pcm1 |
G |
C |
8: 41,740,848 (GRCm39) |
E1031D |
probably damaging |
Het |
Pdcd11 |
A |
G |
19: 47,115,730 (GRCm39) |
E1486G |
probably benign |
Het |
Pex12 |
G |
T |
11: 83,188,860 (GRCm39) |
A45E |
probably damaging |
Het |
Pheta1 |
T |
A |
5: 121,991,314 (GRCm39) |
H225Q |
probably benign |
Het |
Pigm |
A |
G |
1: 172,204,384 (GRCm39) |
D40G |
probably damaging |
Het |
Pkp1 |
G |
T |
1: 135,808,478 (GRCm39) |
N496K |
probably benign |
Het |
Psmc4 |
T |
C |
7: 27,748,287 (GRCm39) |
I54V |
probably benign |
Het |
Rbm33 |
T |
C |
5: 28,599,481 (GRCm39) |
V951A |
unknown |
Het |
Selenbp2 |
G |
T |
3: 94,604,809 (GRCm39) |
|
probably benign |
Het |
Slc3a1 |
G |
A |
17: 85,368,263 (GRCm39) |
W510* |
probably null |
Het |
Stx12 |
A |
C |
4: 132,584,701 (GRCm39) |
|
probably benign |
Het |
Tas2r125 |
G |
T |
6: 132,887,085 (GRCm39) |
D158Y |
probably benign |
Het |
Tchp |
C |
A |
5: 114,857,682 (GRCm39) |
Q392K |
probably benign |
Het |
Tmed11 |
T |
A |
5: 108,926,855 (GRCm39) |
D139V |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,578,654 (GRCm39) |
V24080M |
probably damaging |
Het |
Ush2a |
G |
A |
1: 188,683,722 (GRCm39) |
G4967D |
probably damaging |
Het |
Vezf1 |
T |
C |
11: 87,964,156 (GRCm39) |
S103P |
probably benign |
Het |
Xpnpep3 |
T |
C |
15: 81,315,043 (GRCm39) |
S248P |
probably damaging |
Het |
Yipf2 |
G |
C |
9: 21,503,519 (GRCm39) |
|
probably null |
Het |
Zfp110 |
A |
T |
7: 12,570,290 (GRCm39) |
Q39L |
possibly damaging |
Het |
Zfp287 |
A |
T |
11: 62,605,039 (GRCm39) |
C623S |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGGTAAGATCGGACTCGTGCATTG -3'
(R):5'- AAGCGAGCCTCACATAAGCCTG -3'
Sequencing Primer
(F):5'- GGACTCGTGCATTGTAAAAATGTC -3'
(R):5'- CTATGACCTTGCACAAAAAGTGG -3'
|
Posted On |
2014-08-01 |