Incidental Mutation 'R7591:Macc1'
| ID |
587413 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Macc1
|
| Ensembl Gene |
ENSMUSG00000041886 |
| Gene Name |
metastasis associated in colon cancer 1 |
| Synonyms |
4732474O15Rik |
| MMRRC Submission |
045638-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R7591 (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 C
at 119410393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 387
(V387A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048880]
[ENSMUST00000221866]
[ENSMUST00000221917]
[ENSMUST00000222058]
[ENSMUST00000222784]
|
| AlphaFold |
E9PXX8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048880
AA Change: V387A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000042955
Gene: ENSMUSG00000041886
AA Change: V387A
| 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: V387A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221917
AA Change: V387A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222058
AA Change: V387A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222784
AA Change: V387A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.2602 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (45/45) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccne2 |
T |
C |
4: 11,201,393 (GRCm39) |
I307T |
probably benign |
Het |
| Chrm3 |
A |
T |
13: 9,927,349 (GRCm39) |
C562* |
probably null |
Het |
| Cldn11 |
A |
T |
3: 31,204,436 (GRCm39) |
E46D |
probably benign |
Het |
| Cyp4a14 |
A |
G |
4: 115,347,157 (GRCm39) |
|
probably null |
Het |
| Dbh |
A |
G |
2: 27,060,522 (GRCm39) |
T233A |
probably damaging |
Het |
| Dennd2c |
T |
A |
3: 103,040,661 (GRCm39) |
Y309N |
possibly damaging |
Het |
| Dnttip2 |
T |
A |
3: 122,070,117 (GRCm39) |
L444* |
probably null |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Epop |
A |
T |
11: 97,519,158 (GRCm39) |
V317E |
probably damaging |
Het |
| Eppk1 |
T |
C |
15: 75,991,797 (GRCm39) |
T1695A |
possibly damaging |
Het |
| Fam149a |
T |
A |
8: 45,803,472 (GRCm39) |
I421F |
possibly damaging |
Het |
| Impa2 |
T |
C |
18: 67,451,480 (GRCm39) |
L258P |
probably damaging |
Het |
| Itga1 |
G |
A |
13: 115,119,315 (GRCm39) |
R855W |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,054,541 (GRCm39) |
T468A |
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,372,711 (GRCm39) |
K33R |
probably damaging |
Het |
| Lamb1 |
C |
A |
12: 31,376,647 (GRCm39) |
A1657E |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,561,297 (GRCm39) |
T734A |
probably benign |
Het |
| Nphp3 |
T |
C |
9: 103,895,477 (GRCm39) |
|
probably null |
Het |
| Nutm2 |
A |
G |
13: 50,627,903 (GRCm39) |
I461M |
probably damaging |
Het |
| Or14p1 |
T |
C |
13: 65,292,462 (GRCm39) |
F130L |
probably benign |
Het |
| Or4p7 |
G |
A |
2: 88,222,220 (GRCm39) |
V210M |
probably benign |
Het |
| Or4s2 |
A |
C |
2: 88,473,811 (GRCm39) |
K233N |
probably damaging |
Het |
| Or5b112 |
A |
G |
19: 13,319,619 (GRCm39) |
S166G |
probably benign |
Het |
| Pigo |
T |
C |
4: 43,025,093 (GRCm39) |
N2S |
probably benign |
Het |
| Plcl1 |
A |
T |
1: 55,736,608 (GRCm39) |
I650L |
probably benign |
Het |
| Ppcdc |
A |
T |
9: 57,342,262 (GRCm39) |
V20D |
probably damaging |
Het |
| Pramel27 |
A |
T |
4: 143,577,481 (GRCm39) |
I88L |
probably benign |
Het |
| Rhobtb2 |
A |
G |
14: 70,037,190 (GRCm39) |
V78A |
possibly damaging |
Het |
| Rp1l1 |
T |
C |
14: 64,263,558 (GRCm39) |
V226A |
probably damaging |
Het |
| Scrt1 |
C |
A |
15: 76,403,694 (GRCm39) |
G99C |
probably damaging |
Het |
| Skint9 |
A |
T |
4: 112,248,147 (GRCm39) |
I199N |
probably damaging |
Het |
| Slc5a4a |
T |
C |
10: 75,983,501 (GRCm39) |
|
probably benign |
Het |
| Smad3 |
C |
T |
9: 63,561,999 (GRCm39) |
W326* |
probably null |
Het |
| Spata18 |
A |
T |
5: 73,829,759 (GRCm39) |
I305F |
|
Het |
| Spata31h1 |
C |
A |
10: 82,128,046 (GRCm39) |
V1655F |
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Syne3 |
A |
G |
12: 104,906,863 (GRCm39) |
|
probably null |
Het |
| Trim69 |
G |
A |
2: 121,998,454 (GRCm39) |
R142Q |
probably benign |
Het |
| Vmn1r40 |
A |
T |
6: 89,691,755 (GRCm39) |
I191F |
probably benign |
Het |
| Vmn2r16 |
T |
A |
5: 109,510,223 (GRCm39) |
D535E |
probably damaging |
Het |
| Vwa5b2 |
A |
G |
16: 20,420,317 (GRCm39) |
E742G |
probably damaging |
Het |
| Zfp442 |
A |
T |
2: 150,250,092 (GRCm39) |
Y603* |
probably null |
Het |
| Zp1 |
T |
C |
19: 10,896,835 (GRCm39) |
N68S |
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 |
|
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'- AGAGAAGGCCCTTTCCAAGC -3'
(R):5'- CCAATTGCCTTTGTGCAATTAC -3'
Sequencing Primer
(F):5'- GAGAAGGCCCTTTCCAAGCATTAAAC -3'
(R):5'- CTTTACTTCAAAATCAGGATCACACG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation