Incidental Mutation 'R7496:Macc1'
| ID |
581091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Macc1
|
| Ensembl Gene |
ENSMUSG00000041886 |
| Gene Name |
metastasis associated in colon cancer 1 |
| Synonyms |
4732474O15Rik |
| MMRRC Submission |
045569-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R7496 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
119354133-119430669 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 119410734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 501
(F501V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048880]
[ENSMUST00000221866]
[ENSMUST00000221917]
[ENSMUST00000222058]
[ENSMUST00000222784]
|
| AlphaFold |
E9PXX8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048880
AA Change: F501V
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000042955
Gene: ENSMUSG00000041886
AA Change: F501V
| 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 |
possibly damaging
Transcript: ENSMUST00000221866
AA Change: F501V
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221917
AA Change: F501V
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222058
AA Change: F501V
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222784
AA Change: F501V
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (50/50) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
T |
C |
16: 56,553,220 (GRCm39) |
I626V |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Ago1 |
C |
T |
4: 126,355,545 (GRCm39) |
R88H |
probably benign |
Het |
| Ankrd6 |
C |
T |
4: 32,810,299 (GRCm39) |
D461N |
probably damaging |
Het |
| Bcl2l14 |
A |
G |
6: 134,404,417 (GRCm39) |
N202D |
probably benign |
Het |
| Bnip2 |
A |
G |
9: 69,910,686 (GRCm39) |
I245V |
probably damaging |
Het |
| Cdhr3 |
T |
C |
12: 33,110,264 (GRCm39) |
D340G |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,411,066 (GRCm39) |
E1653G |
probably damaging |
Het |
| Dhdds |
C |
A |
4: 133,698,565 (GRCm39) |
Q256H |
possibly damaging |
Het |
| Dsc2 |
A |
T |
18: 20,168,451 (GRCm39) |
C669* |
probably null |
Het |
| Dync2h1 |
T |
C |
9: 7,135,015 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 84,044,460 (GRCm39) |
S276P |
probably benign |
Het |
| Galc |
A |
T |
12: 98,225,497 (GRCm39) |
L31* |
probably null |
Het |
| Gm527 |
C |
T |
12: 64,969,184 (GRCm39) |
R204C |
possibly damaging |
Het |
| Hivep3 |
G |
A |
4: 119,989,599 (GRCm39) |
D2017N |
probably benign |
Het |
| Inf2 |
C |
T |
12: 112,566,752 (GRCm39) |
R106C |
probably damaging |
Het |
| Itgb1 |
A |
G |
8: 129,446,786 (GRCm39) |
K434E |
probably benign |
Het |
| Lamb1 |
A |
C |
12: 31,350,020 (GRCm39) |
N700T |
probably benign |
Het |
| Man2a2 |
G |
A |
7: 80,002,745 (GRCm39) |
H1079Y |
probably damaging |
Het |
| Nedd4l |
G |
A |
18: 65,213,089 (GRCm39) |
V82I |
possibly damaging |
Het |
| Nr2f1 |
T |
C |
13: 78,343,361 (GRCm39) |
E301G |
probably damaging |
Het |
| Or10ag59 |
A |
G |
2: 87,405,715 (GRCm39) |
R96G |
probably damaging |
Het |
| Or2ag13 |
A |
G |
7: 106,313,435 (GRCm39) |
L151P |
probably benign |
Het |
| Or4a73 |
T |
C |
2: 89,421,040 (GRCm39) |
I140V |
probably benign |
Het |
| Pdgfrb |
G |
A |
18: 61,212,004 (GRCm39) |
V844I |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,787,333 (GRCm39) |
E570G |
possibly damaging |
Het |
| R3hdm4 |
A |
T |
10: 79,752,708 (GRCm39) |
L4Q |
probably damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,318,415 (GRCm39) |
K639R |
probably null |
Het |
| Robo3 |
A |
T |
9: 37,339,121 (GRCm39) |
C257S |
probably damaging |
Het |
| Rprd2 |
A |
T |
3: 95,673,087 (GRCm39) |
L772Q |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,553,018 (GRCm39) |
D59G |
possibly damaging |
Het |
| Sall3 |
T |
C |
18: 81,016,579 (GRCm39) |
T450A |
probably benign |
Het |
| Sdhd |
T |
C |
9: 50,508,385 (GRCm39) |
*160W |
probably null |
Het |
| Sgca |
T |
C |
11: 94,862,070 (GRCm39) |
E194G |
possibly damaging |
Het |
| Shtn1 |
G |
A |
19: 59,016,616 (GRCm39) |
R228C |
probably damaging |
Het |
| Skor1 |
A |
T |
9: 63,054,132 (GRCm39) |
S22T |
probably benign |
Het |
| Slc26a8 |
C |
A |
17: 28,863,824 (GRCm39) |
G645V |
probably benign |
Het |
| Smtn |
T |
C |
11: 3,479,988 (GRCm39) |
E411G |
probably damaging |
Het |
| Sox17 |
A |
G |
1: 4,562,550 (GRCm39) |
Y217H |
probably damaging |
Het |
| Syk |
A |
G |
13: 52,766,452 (GRCm39) |
Q179R |
probably benign |
Het |
| Tpp2 |
A |
G |
1: 44,022,677 (GRCm39) |
I959M |
probably benign |
Het |
| Trim65 |
T |
A |
11: 116,017,142 (GRCm39) |
N440I |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,301,917 (GRCm39) |
|
probably null |
Het |
| Ush2a |
T |
C |
1: 188,083,284 (GRCm39) |
S276P |
possibly damaging |
Het |
| Vmn1r61 |
A |
G |
7: 5,613,430 (GRCm39) |
S295P |
probably benign |
Het |
| Wdhd1 |
T |
C |
14: 47,511,481 (GRCm39) |
Q77R |
probably benign |
Het |
| Xylb |
T |
A |
9: 119,220,882 (GRCm39) |
*552R |
probably null |
Het |
| Zfp932 |
C |
T |
5: 110,156,694 (GRCm39) |
P131S |
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 |
|
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 |
|
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'- AGCATTCATTTTCACTTGACAAGCC -3'
(R):5'- CAGTGCAACCCCATAATTGG -3'
Sequencing Primer
(F):5'- CGTGTGATCCTGATTTTGAAGTAAAG -3'
(R):5'- GTGCAACCCCATAATTGGTAAAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation