Incidental Mutation 'R7120:Macc1'
ID |
551955 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Macc1
|
Ensembl Gene |
ENSMUSG00000041886 |
Gene Name |
metastasis associated in colon cancer 1 |
Synonyms |
4732474O15Rik |
MMRRC Submission |
045209-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R7120 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
119354133-119430669 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 119409480 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 83
(Q83K)
|
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: Q83K
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000042955 Gene: ENSMUSG00000041886 AA Change: Q83K
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: Q83K
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221917
AA Change: Q83K
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222058
AA Change: Q83K
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222784
AA Change: Q83K
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810062G17Rik |
A |
T |
3: 36,536,016 (GRCm39) |
Q94L |
unknown |
Het |
4933411K16Rik |
C |
T |
19: 42,041,112 (GRCm39) |
A81V |
probably benign |
Het |
Actr3 |
A |
C |
1: 125,331,169 (GRCm39) |
Y273* |
probably null |
Het |
Aoc1 |
T |
A |
6: 48,883,531 (GRCm39) |
I469N |
probably damaging |
Het |
Arhgef28 |
A |
T |
13: 98,081,047 (GRCm39) |
L1270Q |
probably damaging |
Het |
Atp2c1 |
G |
A |
9: 105,297,385 (GRCm39) |
Q780* |
probably null |
Het |
Bbs10 |
T |
C |
10: 111,135,310 (GRCm39) |
V141A |
possibly damaging |
Het |
Bivm |
A |
T |
1: 44,165,606 (GRCm39) |
T19S |
probably benign |
Het |
Cacna1h |
T |
G |
17: 25,610,481 (GRCm39) |
H675P |
probably benign |
Het |
Cadps |
T |
A |
14: 12,439,919 (GRCm38) |
L1204F |
probably damaging |
Het |
Cald1 |
T |
C |
6: 34,663,011 (GRCm39) |
|
probably null |
Het |
Calr |
A |
G |
8: 85,569,457 (GRCm39) |
M357T |
probably damaging |
Het |
Ccni |
A |
T |
5: 93,331,190 (GRCm39) |
Y260* |
probably null |
Het |
Csrnp3 |
C |
A |
2: 65,853,354 (GRCm39) |
T594K |
probably damaging |
Het |
Dek |
A |
T |
13: 47,253,659 (GRCm39) |
M152K |
unknown |
Het |
Depdc1b |
T |
C |
13: 108,498,781 (GRCm39) |
W155R |
probably benign |
Het |
Ehd1 |
A |
G |
19: 6,347,591 (GRCm39) |
K315R |
probably benign |
Het |
Epn3 |
C |
A |
11: 94,383,254 (GRCm39) |
R323S |
probably benign |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fbxo10 |
T |
A |
4: 45,040,533 (GRCm39) |
K891* |
probably null |
Het |
Fras1 |
G |
T |
5: 96,900,819 (GRCm39) |
G3013* |
probably null |
Het |
Gbp2b |
A |
G |
3: 142,312,507 (GRCm39) |
T297A |
probably benign |
Het |
Gbp7 |
T |
C |
3: 142,249,734 (GRCm39) |
S402P |
probably damaging |
Het |
Gclc |
T |
C |
9: 77,694,032 (GRCm39) |
Y329H |
probably damaging |
Het |
Gfpt1 |
A |
G |
6: 87,064,375 (GRCm39) |
H655R |
probably benign |
Het |
Gm4787 |
C |
A |
12: 81,425,260 (GRCm39) |
M299I |
probably benign |
Het |
Grb7 |
C |
A |
11: 98,345,817 (GRCm39) |
R532S |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,576,292 (GRCm39) |
I2066N |
probably damaging |
Het |
Hnrnpll |
T |
C |
17: 80,341,486 (GRCm39) |
T518A |
probably benign |
Het |
Hps3 |
G |
A |
3: 20,065,705 (GRCm39) |
R712W |
probably damaging |
Het |
Hspd1 |
A |
G |
1: 55,118,388 (GRCm39) |
V406A |
probably benign |
Het |
Igkv2-112 |
T |
C |
6: 68,197,510 (GRCm39) |
F61L |
probably benign |
Het |
Iqcf5 |
G |
A |
9: 106,392,995 (GRCm39) |
R84H |
probably damaging |
Het |
Itgad |
T |
A |
7: 127,773,146 (GRCm39) |
M1K |
probably null |
Het |
Kmt2d |
A |
G |
15: 98,758,946 (GRCm39) |
S1292P |
unknown |
Het |
Map3k4 |
G |
T |
17: 12,490,354 (GRCm39) |
A359E |
probably damaging |
Het |
Mfap3 |
T |
A |
11: 57,419,043 (GRCm39) |
C68S |
probably damaging |
Het |
Mipep |
C |
T |
14: 61,112,696 (GRCm39) |
R660C |
possibly damaging |
Het |
Morc2b |
A |
T |
17: 33,354,787 (GRCm39) |
L995Q |
probably damaging |
Het |
Mrc1 |
A |
G |
2: 14,313,508 (GRCm39) |
N913S |
probably damaging |
Het |
N4bp1 |
C |
A |
8: 87,587,495 (GRCm39) |
C481F |
probably benign |
Het |
Nae1 |
A |
G |
8: 105,252,910 (GRCm39) |
|
probably null |
Het |
Nup214 |
T |
A |
2: 31,941,054 (GRCm39) |
V29E |
probably benign |
Het |
Or1e30 |
A |
T |
11: 73,677,940 (GRCm39) |
M59L |
probably damaging |
Het |
Or8c11 |
T |
C |
9: 38,289,945 (GRCm39) |
L250P |
probably damaging |
Het |
Orai1 |
A |
G |
5: 123,167,535 (GRCm39) |
E236G |
possibly damaging |
Het |
P2rx7 |
A |
G |
5: 122,819,357 (GRCm39) |
Y593C |
probably benign |
Het |
Pcbp2 |
A |
G |
15: 102,383,113 (GRCm39) |
D77G |
possibly damaging |
Het |
Pcdha8 |
G |
A |
18: 37,126,840 (GRCm39) |
V441M |
possibly damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Plaa |
A |
G |
4: 94,470,919 (GRCm39) |
S406P |
possibly damaging |
Het |
Plekhh1 |
C |
A |
12: 79,117,713 (GRCm39) |
P903Q |
probably benign |
Het |
Plekhh3 |
T |
C |
11: 101,059,064 (GRCm39) |
E92G |
probably damaging |
Het |
Ptpn9 |
T |
C |
9: 56,967,166 (GRCm39) |
F463S |
probably damaging |
Het |
Ptprn2 |
A |
C |
12: 116,835,676 (GRCm39) |
E337A |
probably benign |
Het |
Rubcn |
C |
T |
16: 32,656,839 (GRCm39) |
R527Q |
probably damaging |
Het |
Samd3 |
C |
T |
10: 26,106,864 (GRCm39) |
T73M |
possibly damaging |
Het |
Sfxn4 |
T |
A |
19: 60,840,477 (GRCm39) |
K173* |
probably null |
Het |
Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
Son |
T |
G |
16: 91,467,414 (GRCm39) |
N2258K |
unknown |
Het |
Sspo |
A |
T |
6: 48,442,505 (GRCm39) |
H2000L |
probably benign |
Het |
Syne1 |
C |
T |
10: 5,243,971 (GRCm39) |
S2731N |
probably benign |
Het |
Syt6 |
T |
C |
3: 103,494,673 (GRCm39) |
Y213H |
probably damaging |
Het |
Tkt |
A |
G |
14: 30,281,779 (GRCm39) |
N99S |
probably benign |
Het |
Tlcd3b |
T |
C |
7: 126,428,505 (GRCm39) |
L221P |
probably damaging |
Het |
Tmem258 |
G |
A |
19: 10,181,602 (GRCm39) |
|
probably benign |
Het |
Tnks1bp1 |
T |
C |
2: 84,902,441 (GRCm39) |
S1702P |
probably damaging |
Het |
Tpte |
A |
G |
8: 22,817,689 (GRCm39) |
D225G |
probably damaging |
Het |
Trak1 |
T |
A |
9: 121,289,564 (GRCm39) |
F625L |
probably benign |
Het |
Ttc33 |
G |
T |
15: 5,241,488 (GRCm39) |
C77F |
probably benign |
Het |
Ugt1a2 |
A |
G |
1: 88,128,522 (GRCm39) |
H55R |
probably damaging |
Het |
Vmn1r169 |
G |
T |
7: 23,277,444 (GRCm39) |
V279L |
probably benign |
Het |
Vmn2r25 |
T |
C |
6: 123,805,394 (GRCm39) |
K488E |
possibly damaging |
Het |
Vmn2r8 |
A |
T |
5: 108,956,504 (GRCm39) |
D39E |
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 |
|
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 |
|
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'- ATCAGCCTGGGGATCAAAAGTG -3'
(R):5'- AGAAACACTCTTAGACCTTCCTGAC -3'
Sequencing Primer
(F):5'- CCTGGGGATCAAAAGTGAAAATC -3'
(R):5'- AGACCTTCCTGACTTCCGAGAG -3'
|
Posted On |
2019-05-15 |