Incidental Mutation 'PIT4366001:Macc1'
| ID |
554784 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Macc1
|
| Ensembl Gene |
ENSMUSG00000041886 |
| Gene Name |
metastasis associated in colon cancer 1 |
| Synonyms |
4732474O15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
PIT4366001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
119354133-119430669 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119410684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 484
(V484A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048880]
[ENSMUST00000221866]
[ENSMUST00000221917]
[ENSMUST00000222058]
[ENSMUST00000222784]
|
| AlphaFold |
E9PXX8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048880
AA Change: V484A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000042955
Gene: ENSMUSG00000041886
AA Change: V484A
| 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: V484A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221917
AA Change: V484A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222058
AA Change: V484A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222784
AA Change: V484A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Coding Region Coverage |
- 1x: 93.0%
- 3x: 90.7%
- 10x: 85.5%
- 20x: 73.8%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
C |
A |
11: 119,901,786 (GRCm39) |
S870I |
possibly damaging |
Het |
| Abca13 |
T |
C |
11: 9,244,962 (GRCm39) |
V2275A |
probably benign |
Het |
| Abcb5 |
T |
C |
12: 118,899,833 (GRCm39) |
K278R |
probably damaging |
Het |
| Adcy2 |
TA |
TAA |
13: 68,858,109 (GRCm39) |
|
probably benign |
Het |
| Add3 |
C |
T |
19: 53,205,298 (GRCm39) |
P16L |
unknown |
Het |
| Akap9 |
T |
A |
5: 4,096,221 (GRCm39) |
D2365E |
probably benign |
Het |
| Asah1 |
A |
G |
8: 41,796,783 (GRCm39) |
S300P |
possibly damaging |
Het |
| Astn1 |
A |
T |
1: 158,424,779 (GRCm39) |
H655L |
probably benign |
Het |
| Astn1 |
A |
T |
1: 158,424,781 (GRCm39) |
I656F |
probably benign |
Het |
| Bmpr1b |
T |
A |
3: 141,586,224 (GRCm39) |
T13S |
probably benign |
Het |
| Camsap2 |
A |
G |
1: 136,208,055 (GRCm39) |
F478L |
|
Het |
| Card10 |
G |
A |
15: 78,671,631 (GRCm39) |
S611L |
probably benign |
Het |
| Cep68 |
T |
C |
11: 20,190,007 (GRCm39) |
N335S |
probably benign |
Het |
| Chac1 |
T |
C |
2: 119,181,986 (GRCm39) |
W35R |
probably damaging |
Het |
| Cntn6 |
T |
C |
6: 104,809,498 (GRCm39) |
V511A |
probably benign |
Het |
| Cpne9 |
G |
T |
6: 113,271,707 (GRCm39) |
G356W |
probably damaging |
Het |
| Dnah10 |
C |
A |
5: 124,852,588 (GRCm39) |
T1939K |
possibly damaging |
Het |
| Dock10 |
T |
C |
1: 80,573,438 (GRCm39) |
N239D |
probably benign |
Het |
| Dock5 |
T |
C |
14: 68,062,123 (GRCm39) |
K415R |
possibly damaging |
Het |
| Dtd2 |
C |
A |
12: 52,046,582 (GRCm39) |
D86Y |
probably damaging |
Het |
| Efcab9 |
A |
G |
11: 32,473,608 (GRCm39) |
F127S |
probably damaging |
Het |
| Ermp1 |
T |
C |
19: 29,606,189 (GRCm39) |
H375R |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,560,622 (GRCm39) |
M1295K |
probably damaging |
Het |
| Gbp7 |
T |
G |
3: 142,248,712 (GRCm39) |
I325R |
probably benign |
Het |
| Gpr179 |
T |
C |
11: 97,227,677 (GRCm39) |
K1493E |
probably benign |
Het |
| Gucy2g |
T |
A |
19: 55,226,214 (GRCm39) |
E234V |
probably null |
Het |
| Itpr1 |
T |
A |
6: 108,470,718 (GRCm39) |
C2215* |
probably null |
Het |
| Ltn1 |
G |
A |
16: 87,177,728 (GRCm39) |
R1634* |
probably null |
Het |
| Lynx1 |
A |
T |
15: 74,623,258 (GRCm39) |
M58K |
possibly damaging |
Het |
| Map3k9 |
C |
T |
12: 81,819,535 (GRCm39) |
V240M |
possibly damaging |
Het |
| Mars1 |
A |
G |
10: 127,135,267 (GRCm39) |
M608T |
possibly damaging |
Het |
| Mc2r |
T |
C |
18: 68,540,826 (GRCm39) |
M156V |
probably benign |
Het |
| Mchr1 |
G |
T |
15: 81,121,417 (GRCm39) |
V56L |
probably benign |
Het |
| Mlxip |
C |
T |
5: 123,533,173 (GRCm39) |
P61S |
probably benign |
Het |
| Mtarc1 |
A |
G |
1: 184,539,383 (GRCm39) |
F96S |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,575,542 (GRCm39) |
T1557A |
unknown |
Het |
| Myt1 |
T |
C |
2: 181,467,731 (GRCm39) |
V1135A |
probably damaging |
Het |
| Ndufaf6 |
A |
T |
4: 11,073,215 (GRCm39) |
S76T |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,208,149 (GRCm39) |
Y665C |
probably damaging |
Het |
| Oaz3 |
T |
G |
3: 94,340,901 (GRCm39) |
R215S |
unknown |
Het |
| Or10x1 |
T |
C |
1: 174,196,656 (GRCm39) |
Y58H |
probably damaging |
Het |
| Or5m10b |
T |
C |
2: 85,699,226 (GRCm39) |
C97R |
probably damaging |
Het |
| Or5m8 |
A |
T |
2: 85,822,385 (GRCm39) |
N75Y |
probably damaging |
Het |
| Or5w1b |
C |
T |
2: 87,475,534 (GRCm39) |
W311* |
probably null |
Het |
| Perm1 |
G |
T |
4: 156,303,192 (GRCm39) |
V579L |
probably benign |
Het |
| Phyhipl |
A |
G |
10: 70,404,788 (GRCm39) |
V140A |
probably benign |
Het |
| Pip5k1c |
T |
A |
10: 81,144,842 (GRCm39) |
S228T |
probably damaging |
Het |
| Plekhn1 |
T |
G |
4: 156,309,268 (GRCm39) |
T213P |
probably damaging |
Het |
| Pomt2 |
A |
T |
12: 87,163,303 (GRCm39) |
|
probably null |
Het |
| Ptcd1 |
A |
G |
5: 145,088,145 (GRCm39) |
V622A |
probably benign |
Het |
| Ptn |
T |
A |
6: 36,718,284 (GRCm39) |
H127L |
probably benign |
Het |
| Ptprk |
A |
T |
10: 28,462,015 (GRCm39) |
M1193L |
probably benign |
Het |
| Ptpru |
G |
A |
4: 131,527,023 (GRCm39) |
P650S |
probably benign |
Het |
| Pum2 |
T |
A |
12: 8,783,390 (GRCm39) |
L613Q |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,582,446 (GRCm39) |
T1458A |
probably damaging |
Het |
| Sap130 |
C |
T |
18: 31,810,462 (GRCm39) |
A470V |
probably benign |
Het |
| Sertad2 |
C |
A |
11: 20,598,116 (GRCm39) |
P104Q |
probably benign |
Het |
| Sfrp4 |
A |
T |
13: 19,814,414 (GRCm39) |
M324L |
unknown |
Het |
| Sh3bp4 |
A |
G |
1: 89,073,156 (GRCm39) |
N668S |
probably benign |
Het |
| Snx30 |
C |
A |
4: 59,894,653 (GRCm39) |
D410E |
probably benign |
Het |
| Spata31 |
C |
A |
13: 65,069,319 (GRCm39) |
S489* |
probably null |
Het |
| Taok3 |
T |
A |
5: 117,366,050 (GRCm39) |
M367K |
probably benign |
Het |
| Tfap2a |
T |
C |
13: 40,874,850 (GRCm39) |
N254D |
possibly damaging |
Het |
| Tgtp1 |
T |
G |
11: 48,877,867 (GRCm39) |
L279F |
possibly damaging |
Het |
| Tmpo |
A |
G |
10: 90,999,172 (GRCm39) |
F205S |
probably damaging |
Het |
| Tmprss5 |
A |
T |
9: 49,023,517 (GRCm39) |
I218L |
probably benign |
Het |
| Tti2 |
A |
G |
8: 31,641,224 (GRCm39) |
E116G |
probably benign |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,205 (GRCm39) |
N402K |
possibly 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 |
|
|
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 |
|
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'- GGGGAAGCATTCATTTTCACTTG -3'
(R):5'- GTGCAACCCCATAATTGGTAAAG -3'
Sequencing Primer
(F):5'- AGCATTCATTTTCACTTGACAAGCC -3'
(R):5'- CCTGGCAGATATGAGAACC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation