Incidental Mutation 'R1648:Macc1'
ID |
174050 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Macc1
|
Ensembl Gene |
ENSMUSG00000041886 |
Gene Name |
metastasis associated in colon cancer 1 |
Synonyms |
4732474O15Rik |
MMRRC Submission |
039684-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R1648 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
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
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: 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 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.4%
|
Validation Efficiency |
95% (73/77) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,775,181 (GRCm39) |
N1457D |
probably benign |
Het |
Adgb |
A |
G |
10: 10,271,115 (GRCm39) |
F817L |
probably damaging |
Het |
Akap6 |
A |
T |
12: 53,188,789 (GRCm39) |
K2068* |
probably null |
Het |
Alms1 |
T |
C |
6: 85,655,384 (GRCm39) |
L3310P |
probably damaging |
Het |
Ankrd27 |
T |
A |
7: 35,303,278 (GRCm39) |
D219E |
probably benign |
Het |
Atp10a |
T |
C |
7: 58,434,575 (GRCm39) |
V283A |
probably damaging |
Het |
Atp11a |
C |
T |
8: 12,897,495 (GRCm39) |
S270L |
probably damaging |
Het |
Casp3 |
T |
C |
8: 47,091,109 (GRCm39) |
S254P |
probably benign |
Het |
Cep104 |
G |
A |
4: 154,063,553 (GRCm39) |
|
probably null |
Het |
Cep170b |
C |
T |
12: 112,702,806 (GRCm39) |
T423I |
probably damaging |
Het |
Cfap58 |
A |
G |
19: 47,943,844 (GRCm39) |
E348G |
probably benign |
Het |
Chd6 |
A |
G |
2: 160,883,978 (GRCm39) |
L89S |
probably damaging |
Het |
Cyp2a22 |
T |
C |
7: 26,631,793 (GRCm39) |
S488G |
probably damaging |
Het |
D130040H23Rik |
C |
A |
8: 69,755,633 (GRCm39) |
H363Q |
probably benign |
Het |
Dcaf7 |
T |
A |
11: 105,942,628 (GRCm39) |
F192I |
probably damaging |
Het |
Ddx20 |
T |
C |
3: 105,586,504 (GRCm39) |
I614V |
probably benign |
Het |
Ehbp1 |
G |
A |
11: 22,046,000 (GRCm39) |
T558I |
probably damaging |
Het |
Eif2ak3 |
T |
A |
6: 70,860,615 (GRCm39) |
V397D |
possibly damaging |
Het |
Eif2b5 |
T |
C |
16: 20,321,335 (GRCm39) |
V296A |
possibly damaging |
Het |
Esr1 |
A |
G |
10: 4,951,260 (GRCm39) |
E546G |
possibly damaging |
Het |
Fras1 |
T |
A |
5: 96,874,472 (GRCm39) |
|
probably null |
Het |
G930045G22Rik |
T |
C |
6: 50,823,698 (GRCm39) |
|
noncoding transcript |
Het |
Gemin5 |
A |
T |
11: 58,038,805 (GRCm39) |
L568* |
probably null |
Het |
Gm22697+Rbm27 |
AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC |
AGGTCCCGGCCCAGGCCC |
18: 42,434,948 (GRCm39) |
|
probably benign |
Het |
Gpr155 |
T |
C |
2: 73,194,508 (GRCm39) |
|
probably null |
Het |
Has1 |
A |
G |
17: 18,070,247 (GRCm39) |
Y225H |
probably damaging |
Het |
Hk3 |
A |
G |
13: 55,162,274 (GRCm39) |
F110S |
probably damaging |
Het |
Iars1 |
A |
G |
13: 49,876,478 (GRCm39) |
K848E |
possibly damaging |
Het |
Kif17 |
A |
G |
4: 137,997,206 (GRCm39) |
Y43C |
probably damaging |
Het |
Kif20b |
A |
T |
19: 34,914,190 (GRCm39) |
T355S |
possibly damaging |
Het |
Kif21a |
T |
C |
15: 90,878,570 (GRCm39) |
T237A |
probably damaging |
Het |
Klc1 |
T |
C |
12: 111,743,321 (GRCm39) |
L216P |
probably damaging |
Het |
Krt7 |
A |
C |
15: 101,310,448 (GRCm39) |
S32R |
probably damaging |
Het |
Lama3 |
A |
G |
18: 12,665,256 (GRCm39) |
D2330G |
possibly damaging |
Het |
Limch1 |
T |
A |
5: 67,156,599 (GRCm39) |
S511R |
probably damaging |
Het |
Luzp2 |
T |
A |
7: 54,914,018 (GRCm39) |
|
probably null |
Het |
Mroh9 |
T |
G |
1: 162,873,625 (GRCm39) |
E510A |
probably damaging |
Het |
Myo1h |
G |
T |
5: 114,474,336 (GRCm39) |
L458F |
probably damaging |
Het |
Neto1 |
A |
T |
18: 86,518,179 (GRCm39) |
Y528F |
probably damaging |
Het |
Nlrp9b |
T |
A |
7: 19,760,469 (GRCm39) |
C187S |
possibly damaging |
Het |
Nup160 |
T |
C |
2: 90,540,432 (GRCm39) |
Y854H |
probably damaging |
Het |
Odc1 |
T |
C |
12: 17,598,538 (GRCm39) |
|
probably benign |
Het |
Or10a3n |
A |
G |
7: 108,492,972 (GRCm39) |
I214T |
probably damaging |
Het |
Or51a10 |
A |
G |
7: 103,699,376 (GRCm39) |
Y62H |
probably damaging |
Het |
Or5an10 |
T |
A |
19: 12,276,023 (GRCm39) |
I158L |
probably benign |
Het |
Plcb2 |
A |
T |
2: 118,554,261 (GRCm39) |
M64K |
possibly damaging |
Het |
Plcxd3 |
A |
T |
15: 4,405,291 (GRCm39) |
I33F |
probably benign |
Het |
Postn |
A |
G |
3: 54,283,522 (GRCm39) |
T534A |
probably damaging |
Het |
Prkd2 |
T |
A |
7: 16,591,732 (GRCm39) |
F588I |
possibly damaging |
Het |
Prrg4 |
C |
A |
2: 104,663,088 (GRCm39) |
A173S |
probably benign |
Het |
Rinl |
C |
T |
7: 28,497,057 (GRCm39) |
A519V |
probably damaging |
Het |
Rpgrip1l |
A |
C |
8: 91,979,517 (GRCm39) |
V975G |
probably damaging |
Het |
Rps6ka4 |
C |
A |
19: 6,816,730 (GRCm39) |
V118L |
probably benign |
Het |
Rtkn |
T |
C |
6: 83,112,975 (GRCm39) |
S16P |
probably damaging |
Het |
Sbspon |
C |
A |
1: 15,953,983 (GRCm39) |
R99L |
probably damaging |
Het |
Sdf4 |
G |
A |
4: 156,083,886 (GRCm39) |
A119T |
probably damaging |
Het |
Sgpp1 |
T |
A |
12: 75,762,990 (GRCm39) |
H397L |
possibly damaging |
Het |
Shc2 |
T |
A |
10: 79,461,945 (GRCm39) |
M367L |
probably benign |
Het |
Slc26a5 |
T |
A |
5: 22,018,974 (GRCm39) |
K590* |
probably null |
Het |
Slc39a12 |
T |
C |
2: 14,456,803 (GRCm39) |
V597A |
probably benign |
Het |
Smcp |
A |
T |
3: 92,491,788 (GRCm39) |
C20S |
unknown |
Het |
Tdrd6 |
A |
C |
17: 43,938,000 (GRCm39) |
V1016G |
possibly damaging |
Het |
Tmem132c |
T |
A |
5: 127,540,120 (GRCm39) |
|
probably benign |
Het |
Tmem170b |
A |
T |
13: 41,759,738 (GRCm39) |
Q16L |
probably null |
Het |
Tmem30a |
A |
G |
9: 79,700,311 (GRCm39) |
F61S |
probably damaging |
Het |
Tnfsf13b |
T |
C |
8: 10,081,534 (GRCm39) |
M232T |
probably damaging |
Het |
Trip11 |
T |
A |
12: 101,850,651 (GRCm39) |
K853* |
probably null |
Het |
Tusc3 |
C |
A |
8: 39,513,721 (GRCm39) |
S64* |
probably null |
Het |
Vmn2r111 |
A |
T |
17: 22,788,042 (GRCm39) |
D436E |
probably benign |
Het |
Zfp607a |
T |
C |
7: 27,578,493 (GRCm39) |
V521A |
probably benign |
Het |
Zfp704 |
A |
T |
3: 9,536,099 (GRCm39) |
S140R |
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 |
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'- AAGGAGGGTCAGTCCAATTACCCG -3'
(R):5'- TTGTGTCCACAAACAGTGAAAACAGC -3'
Sequencing Primer
(F):5'- GTCAGTCCAATTACCCGACTCAG -3'
(R):5'- GGTCCATAAATTCCAATAGAGGTG -3'
|
Posted On |
2014-04-24 |