Incidental Mutation 'R9473:Macc1'
| ID |
715589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Macc1
|
| Ensembl Gene |
ENSMUSG00000041886 |
| Gene Name |
metastasis associated in colon cancer 1 |
| Synonyms |
4732474O15Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R9473 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
119354133-119430669 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 119297990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000221917]
[ENSMUST00000222784]
|
| AlphaFold |
E9PXX8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221917
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222784
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.6%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
C |
T |
5: 144,980,912 (GRCm39) |
P107L |
probably benign |
Het |
| Abcc10 |
T |
C |
17: 46,617,609 (GRCm39) |
N1142S |
probably benign |
Het |
| Accsl |
T |
C |
2: 93,686,092 (GRCm39) |
H575R |
probably benign |
Het |
| Adgra2 |
T |
A |
8: 27,610,943 (GRCm39) |
L964Q |
probably damaging |
Het |
| Akap5 |
T |
C |
12: 76,376,632 (GRCm39) |
L688P |
probably damaging |
Het |
| Anapc10 |
A |
G |
8: 80,501,673 (GRCm39) |
N147S |
probably damaging |
Het |
| Atm |
C |
T |
9: 53,410,272 (GRCm39) |
E1059K |
probably benign |
Het |
| Bltp2 |
G |
A |
11: 78,174,983 (GRCm39) |
R1706H |
probably damaging |
Het |
| Bmf |
A |
C |
2: 118,363,104 (GRCm39) |
F251V |
probably benign |
Het |
| Capn3 |
G |
T |
2: 120,326,535 (GRCm39) |
E576* |
probably null |
Het |
| Capns2 |
T |
C |
8: 93,628,854 (GRCm39) |
*248R |
probably null |
Het |
| Ceacam13 |
G |
T |
7: 17,747,281 (GRCm39) |
V245L |
probably benign |
Het |
| Clcn3 |
T |
C |
8: 61,407,651 (GRCm39) |
D2G |
probably benign |
Het |
| Dcstamp |
G |
A |
15: 39,617,972 (GRCm39) |
C127Y |
probably damaging |
Het |
| Dnmt3l |
C |
T |
10: 77,886,022 (GRCm39) |
Q36* |
probably null |
Het |
| Dpys |
A |
G |
15: 39,687,583 (GRCm39) |
I405T |
possibly damaging |
Het |
| Duoxa1 |
A |
G |
2: 122,134,326 (GRCm39) |
I309T |
probably benign |
Het |
| Eif2b1 |
G |
A |
5: 124,712,677 (GRCm39) |
Q156* |
probably null |
Het |
| Eif3l |
T |
A |
15: 78,970,704 (GRCm39) |
M326K |
probably damaging |
Het |
| Fbxl13 |
T |
C |
5: 21,790,243 (GRCm39) |
N267D |
possibly damaging |
Het |
| Fip1l1 |
C |
T |
5: 74,745,719 (GRCm39) |
T372I |
probably damaging |
Het |
| Galt |
A |
G |
4: 41,757,575 (GRCm39) |
N249S |
probably benign |
Het |
| Gm17324 |
G |
T |
9: 78,355,839 (GRCm39) |
R47S |
unknown |
Het |
| Gm45871 |
T |
G |
18: 90,609,093 (GRCm39) |
D110E |
probably benign |
Het |
| Gtf2ird1 |
T |
A |
5: 134,433,534 (GRCm39) |
T298S |
probably benign |
Het |
| Ighv7-4 |
T |
C |
12: 114,186,722 (GRCm39) |
I17V |
probably benign |
Het |
| Krt7 |
C |
T |
15: 101,318,409 (GRCm39) |
R299W |
probably damaging |
Het |
| Mturn |
G |
A |
6: 54,666,009 (GRCm39) |
E61K |
probably benign |
Het |
| Nol11 |
T |
C |
11: 107,075,581 (GRCm39) |
D149G |
probably null |
Het |
| Nr4a3 |
A |
T |
4: 48,052,143 (GRCm39) |
N299I |
probably damaging |
Het |
| Pip5k1b |
A |
T |
19: 24,335,590 (GRCm39) |
I351N |
probably damaging |
Het |
| Plce1 |
G |
A |
19: 38,766,337 (GRCm39) |
E2121K |
possibly damaging |
Het |
| Pramel11 |
T |
G |
4: 143,620,815 (GRCm39) |
T468P |
probably benign |
Het |
| Rdh19 |
A |
G |
10: 127,696,177 (GRCm39) |
T310A |
probably benign |
Het |
| Rflnb |
T |
A |
11: 75,913,064 (GRCm39) |
Y108F |
probably damaging |
Het |
| Rfx1 |
A |
T |
8: 84,819,903 (GRCm39) |
I713F |
probably damaging |
Het |
| Saxo5 |
G |
A |
8: 3,529,232 (GRCm39) |
C239Y |
probably benign |
Het |
| Scgn |
T |
C |
13: 24,143,731 (GRCm39) |
|
probably null |
Het |
| Serpina1d |
T |
C |
12: 103,729,939 (GRCm39) |
*414W |
probably null |
Het |
| Slc18a3 |
T |
C |
14: 32,185,913 (GRCm39) |
I157V |
probably benign |
Het |
| Steap1 |
T |
C |
5: 5,790,378 (GRCm39) |
Y190C |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,064,243 (GRCm39) |
S3247P |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,198,258 (GRCm39) |
I3778V |
probably benign |
Het |
| Tas2r114 |
T |
C |
6: 131,666,104 (GRCm39) |
D308G |
probably benign |
Het |
| Tpm2 |
A |
T |
4: 43,514,813 (GRCm39) |
L274* |
probably null |
Het |
| Ttc39b |
A |
G |
4: 83,181,977 (GRCm39) |
F81L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,547,338 (GRCm39) |
V32236A |
probably damaging |
Het |
| Ubr5 |
A |
G |
15: 38,002,617 (GRCm39) |
V1472A |
|
Het |
| Ugt2b1 |
A |
T |
5: 87,065,539 (GRCm39) |
V500D |
possibly damaging |
Het |
| Vpreb1b |
G |
A |
16: 17,798,565 (GRCm39) |
C17Y |
probably benign |
Het |
| Wscd1 |
A |
G |
11: 71,679,644 (GRCm39) |
N506D |
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 |
|
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 |
|
R9769:Macc1
|
UTSW |
12 |
119,407,241 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTAATCTCATACGCTCATTGCAC -3'
(R):5'- GCATGCTAATGACCAAAGTGG -3'
Sequencing Primer
(F):5'- ACGCTCATTGCACTCATTCTTGTAG -3'
(R):5'- ACCTCTTGAAGATCCTCC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation