Incidental Mutation 'R7823:Macc1'
| ID |
602025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Macc1
|
| Ensembl Gene |
ENSMUSG00000041886 |
| Gene Name |
metastasis associated in colon cancer 1 |
| Synonyms |
4732474O15Rik |
| MMRRC Submission |
045877-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R7823 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
119354133-119430669 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 119410800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 523
(K523Q)
|
| 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: K523Q
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000042955
Gene: ENSMUSG00000041886
AA Change: K523Q
| 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: K523Q
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221917
AA Change: K523Q
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222058
AA Change: K523Q
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222784
AA Change: K523Q
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
99% (68/69) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
G |
14: 118,771,484 (GRCm39) |
V869A |
probably benign |
Het |
| Alox15 |
C |
A |
11: 70,235,494 (GRCm39) |
V623L |
possibly damaging |
Het |
| Angpt4 |
T |
G |
2: 151,753,286 (GRCm39) |
L12R |
unknown |
Het |
| Cdh24 |
C |
T |
14: 54,874,875 (GRCm39) |
A42T |
probably damaging |
Het |
| Cep250 |
T |
A |
2: 155,807,336 (GRCm39) |
S234T |
possibly damaging |
Het |
| Clnk |
T |
A |
5: 38,907,694 (GRCm39) |
Y188F |
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,103,698 (GRCm39) |
T306S |
|
Het |
| Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
| Dgka |
T |
A |
10: 128,572,135 (GRCm39) |
Y50F |
probably benign |
Het |
| Dgkh |
C |
T |
14: 78,841,921 (GRCm39) |
V434I |
probably benign |
Het |
| Epb41 |
A |
G |
4: 131,701,993 (GRCm39) |
|
probably null |
Het |
| Fam220a |
A |
G |
5: 143,549,011 (GRCm39) |
D141G |
probably damaging |
Het |
| Fbxo11 |
A |
G |
17: 88,300,610 (GRCm39) |
L807S |
probably damaging |
Het |
| G530012D18Rik |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
| Ggt1 |
G |
A |
10: 75,410,175 (GRCm39) |
V36M |
possibly damaging |
Het |
| Gjb2 |
T |
C |
14: 57,337,963 (GRCm39) |
I82V |
probably benign |
Het |
| Gm7579 |
T |
A |
7: 141,766,307 (GRCm39) |
C238S |
unknown |
Het |
| Hps1 |
G |
A |
19: 42,744,146 (GRCm39) |
T681M |
possibly damaging |
Het |
| Iqck |
T |
C |
7: 118,472,046 (GRCm39) |
Y64H |
probably damaging |
Het |
| Ldlr |
G |
A |
9: 21,653,602 (GRCm39) |
|
probably null |
Het |
| Mon2 |
A |
T |
10: 122,868,559 (GRCm39) |
I498N |
probably damaging |
Het |
| Mphosph9 |
T |
C |
5: 124,442,319 (GRCm39) |
E373G |
probably damaging |
Het |
| Mthfr |
T |
C |
4: 148,135,944 (GRCm39) |
I314T |
probably benign |
Het |
| Mtmr4 |
T |
G |
11: 87,503,015 (GRCm39) |
I1023S |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,719,233 (GRCm39) |
F507I |
probably damaging |
Het |
| Nlrp10 |
T |
A |
7: 108,523,468 (GRCm39) |
M671L |
probably benign |
Het |
| Nt5c1a |
T |
C |
4: 123,102,365 (GRCm39) |
V97A |
probably damaging |
Het |
| Nxpe5 |
A |
G |
5: 138,237,844 (GRCm39) |
R123G |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,998,766 (GRCm39) |
S1369G |
probably damaging |
Het |
| Oga |
A |
G |
19: 45,765,354 (GRCm39) |
V151A |
possibly damaging |
Het |
| Or4a75 |
A |
G |
2: 89,447,613 (GRCm39) |
*308Q |
probably null |
Het |
| Or52m2 |
A |
G |
7: 102,264,164 (GRCm39) |
S11P |
probably benign |
Het |
| Or5b99 |
A |
T |
19: 12,976,781 (GRCm39) |
I144F |
probably damaging |
Het |
| Or6c33 |
T |
A |
10: 129,854,136 (GRCm39) |
M302K |
probably benign |
Het |
| Or6k2 |
A |
G |
1: 173,987,254 (GRCm39) |
K305R |
probably benign |
Het |
| Or8b57 |
A |
T |
9: 40,003,644 (GRCm39) |
V202E |
probably damaging |
Het |
| Pak6 |
G |
A |
2: 118,525,793 (GRCm39) |
A618T |
probably benign |
Het |
| Pax7 |
T |
A |
4: 139,468,150 (GRCm39) |
E489V |
probably benign |
Het |
| Phactr4 |
G |
A |
4: 132,088,930 (GRCm39) |
R651* |
probably null |
Het |
| Pik3c2b |
C |
T |
1: 133,030,043 (GRCm39) |
R1435C |
probably damaging |
Het |
| Pla2g4c |
A |
T |
7: 13,063,944 (GRCm39) |
I68F |
probably damaging |
Het |
| Plppr1 |
A |
G |
4: 49,325,703 (GRCm39) |
M300V |
probably benign |
Het |
| Ptgfrn |
C |
T |
3: 100,950,725 (GRCm39) |
V863I |
probably damaging |
Het |
| Rabep2 |
T |
C |
7: 126,037,893 (GRCm39) |
S222P |
probably damaging |
Het |
| Ramacl |
A |
G |
13: 67,055,351 (GRCm39) |
|
probably benign |
Het |
| Rbm20 |
A |
T |
19: 53,831,785 (GRCm39) |
D673V |
probably benign |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
C |
A |
11: 106,233,334 (GRCm39) |
A413S |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,314,135 (GRCm39) |
M1850K |
probably damaging |
Het |
| Sh3tc2 |
T |
A |
18: 62,086,188 (GRCm39) |
M1K |
probably null |
Het |
| Slc22a28 |
G |
A |
19: 8,041,890 (GRCm39) |
T439I |
probably benign |
Het |
| Slc25a36 |
A |
G |
9: 96,966,444 (GRCm39) |
|
probably null |
Het |
| Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
| Spata3 |
T |
C |
1: 85,949,781 (GRCm39) |
|
probably benign |
Het |
| Srp68 |
C |
T |
11: 116,156,265 (GRCm39) |
R159Q |
probably damaging |
Het |
| Ssbp2 |
C |
A |
13: 91,790,448 (GRCm39) |
L104I |
possibly damaging |
Het |
| St8sia3 |
T |
A |
18: 64,400,027 (GRCm39) |
F7L |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,532,587 (GRCm39) |
V2948A |
probably damaging |
Het |
| Syne4 |
A |
G |
7: 30,018,280 (GRCm39) |
T341A |
probably benign |
Het |
| Tcf7l2 |
T |
A |
19: 55,731,521 (GRCm39) |
D91E |
possibly damaging |
Het |
| Tekt5 |
T |
A |
16: 10,203,943 (GRCm39) |
I236F |
probably damaging |
Het |
| Tlk2 |
T |
C |
11: 105,144,133 (GRCm39) |
Y316H |
probably damaging |
Het |
| Tmem184b |
C |
T |
15: 79,249,491 (GRCm39) |
A326T |
probably benign |
Het |
| Tnks2 |
G |
A |
19: 36,829,954 (GRCm39) |
|
probably null |
Het |
| Trpc4 |
C |
A |
3: 54,209,640 (GRCm39) |
Y668* |
probably null |
Het |
| Ttc9c |
A |
T |
19: 8,793,286 (GRCm39) |
F118Y |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,946,780 (GRCm39) |
C95Y |
probably damaging |
Het |
| Vars2 |
A |
C |
17: 35,970,028 (GRCm39) |
L787R |
probably damaging |
Het |
| Vwa3a |
T |
C |
7: 120,372,185 (GRCm39) |
S254P |
probably damaging |
Het |
| Wdr81 |
T |
C |
11: 75,340,627 (GRCm39) |
Y1250C |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,342,118 (GRCm39) |
D1453V |
probably damaging |
Het |
| Zbtb38 |
A |
T |
9: 96,568,029 (GRCm39) |
C1018* |
probably null |
Het |
| Zfp622 |
C |
T |
15: 25,984,709 (GRCm39) |
T25M |
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 |
|
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'- TTGCACAAAGGCAATTGGAAGC -3'
(R):5'- ACTTTGGACTGTCCTATGGC -3'
Sequencing Primer
(F):5'- AGCAGGTGTGGTAGTTCATCAAC -3'
(R):5'- GGACTGTCCTATGGCTCTTACTG -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation