Incidental Mutation 'R7060:Macc1'
| ID |
548214 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Macc1
|
| Ensembl Gene |
ENSMUSG00000041886 |
| Gene Name |
metastasis associated in colon cancer 1 |
| Synonyms |
4732474O15Rik |
| MMRRC Submission |
045157-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R7060 (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 119411190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 653
(L653V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048880]
[ENSMUST00000221866]
[ENSMUST00000221917]
[ENSMUST00000222058]
[ENSMUST00000222784]
|
| AlphaFold |
E9PXX8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048880
AA Change: L653V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042955
Gene: ENSMUSG00000041886
AA Change: L653V
| 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 damaging
Transcript: ENSMUST00000221866
AA Change: L653V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221917
AA Change: L653V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222058
AA Change: L653V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222784
AA Change: L653V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.4302 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
96% (78/81) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
T |
A |
9: 44,186,425 (GRCm39) |
T535S |
probably benign |
Het |
| Adamts19 |
A |
T |
18: 58,970,712 (GRCm39) |
R99* |
probably null |
Het |
| Alg6 |
C |
T |
4: 99,650,198 (GRCm39) |
L473F |
possibly damaging |
Het |
| Ankar |
A |
T |
1: 72,695,272 (GRCm39) |
N893K |
probably benign |
Het |
| Ankrd54 |
G |
A |
15: 78,939,739 (GRCm39) |
A183V |
possibly damaging |
Het |
| Anpep |
G |
T |
7: 79,491,542 (GRCm39) |
T153K |
probably benign |
Het |
| Arap1 |
A |
G |
7: 101,058,564 (GRCm39) |
|
probably null |
Het |
| Aspg |
A |
T |
12: 112,089,387 (GRCm39) |
T392S |
probably benign |
Het |
| B230307C23Rik |
A |
C |
16: 97,811,331 (GRCm39) |
R68S |
probably benign |
Het |
| Bdp1 |
G |
C |
13: 100,196,002 (GRCm39) |
N1253K |
probably damaging |
Het |
| Ccrl2 |
G |
A |
9: 110,884,682 (GRCm39) |
S272F |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,398,205 (GRCm39) |
L974P |
probably damaging |
Het |
| Celsr1 |
C |
A |
15: 85,916,856 (GRCm39) |
E372D |
probably benign |
Het |
| Cers1 |
A |
T |
8: 70,768,555 (GRCm39) |
M16L |
possibly damaging |
Het |
| Col2a1 |
G |
T |
15: 97,874,022 (GRCm39) |
Q1387K |
unknown |
Het |
| Ddx39b |
G |
A |
17: 35,471,726 (GRCm39) |
V291M |
probably damaging |
Het |
| Dppa2 |
T |
A |
16: 48,136,076 (GRCm39) |
S143T |
probably benign |
Het |
| Dpy19l1 |
A |
T |
9: 24,334,419 (GRCm39) |
M583K |
possibly damaging |
Het |
| Eno3 |
A |
T |
11: 70,552,245 (GRCm39) |
D299V |
possibly damaging |
Het |
| Epha8 |
C |
T |
4: 136,658,469 (GRCm39) |
V969M |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,791,358 (GRCm39) |
H873L |
probably benign |
Het |
| Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
| Fntb |
A |
C |
12: 76,934,649 (GRCm39) |
N173T |
possibly damaging |
Het |
| Gins2 |
T |
A |
8: 121,308,880 (GRCm39) |
M125L |
probably benign |
Het |
| Gys1 |
G |
A |
7: 45,089,437 (GRCm39) |
A199T |
probably damaging |
Het |
| Herpud1 |
C |
A |
8: 95,117,391 (GRCm39) |
H116N |
probably benign |
Het |
| Hoga1 |
C |
A |
19: 42,048,685 (GRCm39) |
Y134* |
probably null |
Het |
| Il10ra |
A |
G |
9: 45,167,522 (GRCm39) |
I343T |
probably benign |
Het |
| Inava |
T |
C |
1: 136,147,935 (GRCm39) |
K339R |
possibly damaging |
Het |
| Inpp5j |
C |
T |
11: 3,450,133 (GRCm39) |
|
probably null |
Het |
| Itpkb |
T |
C |
1: 180,160,695 (GRCm39) |
S274P |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 34,177,418 (GRCm39) |
C249Y |
probably damaging |
Het |
| Klhl35 |
G |
C |
7: 99,117,665 (GRCm39) |
A70P |
possibly damaging |
Het |
| Lhx1 |
A |
G |
11: 84,411,108 (GRCm39) |
|
probably null |
Het |
| Lmbrd1 |
T |
C |
1: 24,732,047 (GRCm39) |
V88A |
probably benign |
Het |
| Madd |
T |
C |
2: 91,007,452 (GRCm39) |
D220G |
probably damaging |
Het |
| Mllt10 |
T |
A |
2: 18,164,371 (GRCm39) |
H300Q |
possibly damaging |
Het |
| Mlxipl |
G |
A |
5: 135,161,169 (GRCm39) |
A363T |
possibly damaging |
Het |
| Mus81 |
G |
T |
19: 5,537,821 (GRCm39) |
D78E |
probably benign |
Het |
| Mxd1 |
A |
T |
6: 86,630,141 (GRCm39) |
L26M |
probably damaging |
Het |
| Nhsl1 |
C |
T |
10: 18,402,251 (GRCm39) |
T1159M |
probably damaging |
Het |
| Nos1ap |
A |
G |
1: 170,165,694 (GRCm39) |
S190P |
possibly damaging |
Het |
| Nwd1 |
A |
C |
8: 73,393,322 (GRCm39) |
D195A |
probably damaging |
Het |
| Or12d13 |
G |
T |
17: 37,647,352 (GRCm39) |
T257N |
probably benign |
Het |
| Or6k4 |
A |
T |
1: 173,964,376 (GRCm39) |
D22V |
probably benign |
Het |
| Or8c14-ps1 |
G |
A |
9: 38,101,392 (GRCm39) |
V124I |
probably damaging |
Het |
| Or8k24 |
T |
A |
2: 86,216,569 (GRCm39) |
R64S |
possibly damaging |
Het |
| Otof |
T |
C |
5: 30,545,700 (GRCm39) |
D500G |
possibly damaging |
Het |
| Pcgf5 |
T |
A |
19: 36,420,339 (GRCm39) |
Y190* |
probably null |
Het |
| Pdcd11 |
C |
T |
19: 47,099,418 (GRCm39) |
T839I |
probably benign |
Het |
| Ppard |
G |
C |
17: 28,517,886 (GRCm39) |
S318T |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,597,970 (GRCm39) |
K178E |
probably damaging |
Het |
| Ppm1n |
G |
T |
7: 19,013,187 (GRCm39) |
R255S |
probably damaging |
Het |
| Ppp1r21 |
A |
G |
17: 88,887,972 (GRCm39) |
Y693C |
probably damaging |
Het |
| Ppp2r5d |
A |
T |
17: 46,998,279 (GRCm39) |
V169E |
possibly damaging |
Het |
| Prc1 |
A |
T |
7: 79,954,121 (GRCm39) |
T53S |
probably benign |
Het |
| Pwp2 |
A |
C |
10: 78,009,084 (GRCm39) |
|
probably null |
Het |
| Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
| Ring1 |
A |
G |
17: 34,242,364 (GRCm39) |
C48R |
probably damaging |
Het |
| Rpap1 |
T |
C |
2: 119,604,043 (GRCm39) |
D496G |
probably damaging |
Het |
| Rspo4 |
C |
A |
2: 151,714,998 (GRCm39) |
Q212K |
unknown |
Het |
| Samd9l |
T |
A |
6: 3,372,716 (GRCm39) |
D1515V |
probably damaging |
Het |
| Serinc3 |
T |
C |
2: 163,478,879 (GRCm39) |
T83A |
probably benign |
Het |
| Setd5 |
A |
C |
6: 113,094,343 (GRCm39) |
D420A |
probably damaging |
Het |
| Sidt2 |
T |
C |
9: 45,864,544 (GRCm39) |
T62A |
possibly damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,652,101 (GRCm39) |
V621A |
probably damaging |
Het |
| Srcin1 |
A |
G |
11: 97,464,711 (GRCm39) |
L12P |
probably damaging |
Het |
| Stx18 |
G |
A |
5: 38,278,599 (GRCm39) |
D165N |
possibly damaging |
Het |
| Sumf2 |
A |
G |
5: 129,883,341 (GRCm39) |
K139E |
possibly damaging |
Het |
| Tdo2 |
A |
T |
3: 81,876,866 (GRCm39) |
I102N |
probably damaging |
Het |
| Tdp1 |
T |
A |
12: 99,877,947 (GRCm39) |
S410T |
probably benign |
Het |
| Tmem94 |
A |
T |
11: 115,683,764 (GRCm39) |
I726F |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,795,742 (GRCm39) |
E1192G |
probably damaging |
Het |
| Ttc8 |
T |
C |
12: 98,909,726 (GRCm39) |
I52T |
probably benign |
Het |
| Vmn2r99 |
A |
T |
17: 19,614,826 (GRCm39) |
R849* |
probably null |
Het |
| Wwc1 |
T |
C |
11: 35,806,003 (GRCm39) |
K77E |
possibly damaging |
Het |
| Xirp2 |
A |
T |
2: 67,345,952 (GRCm39) |
E2731V |
probably damaging |
Het |
| Zfp1006 |
A |
C |
8: 129,945,613 (GRCm39) |
I404R |
probably benign |
Het |
| Zfp423 |
G |
A |
8: 88,509,507 (GRCm39) |
T258I |
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 |
|
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'- AGCCATAGGACAGTCCAAAGTG -3'
(R):5'- TCCAAAGCTATGACCTTGCAC -3'
Sequencing Primer
(F):5'- TGAAAGAATGGTACGTAGGAGTCCTC -3'
(R):5'- GGATTCAATGTATCTGAGACCTCTAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation