Incidental Mutation 'R0528:Macc1'
| ID |
49012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Macc1
|
| Ensembl Gene |
ENSMUSG00000041886 |
| Gene Name |
metastasis associated in colon cancer 1 |
| Synonyms |
4732474O15Rik |
| MMRRC Submission |
038720-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R0528 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
119354133-119430669 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 119410780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 516
(Y516F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048880]
[ENSMUST00000221866]
[ENSMUST00000221917]
[ENSMUST00000222058]
[ENSMUST00000222784]
|
| AlphaFold |
E9PXX8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048880
AA Change: Y516F
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000042955
Gene: ENSMUSG00000041886
AA Change: Y516F
| 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: Y516F
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221917
AA Change: Y516F
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222058
AA Change: Y516F
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222784
AA Change: Y516F
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.9%
|
| Validation Efficiency |
96% (65/68) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
G |
10: 79,838,848 (GRCm39) |
W674G |
probably damaging |
Het |
| Abcc9 |
G |
A |
6: 142,638,606 (GRCm39) |
H103Y |
probably damaging |
Het |
| Ano7 |
A |
G |
1: 93,323,224 (GRCm39) |
N495S |
probably null |
Het |
| Aoc1l3 |
T |
A |
6: 48,964,965 (GRCm39) |
D324E |
probably benign |
Het |
| Ash1l |
A |
G |
3: 88,889,584 (GRCm39) |
N488D |
probably benign |
Het |
| Astn2 |
A |
G |
4: 65,563,119 (GRCm39) |
|
probably benign |
Het |
| Atraid |
T |
A |
5: 31,209,796 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,767,083 (GRCm39) |
R866G |
probably damaging |
Het |
| Cep164 |
T |
A |
9: 45,688,234 (GRCm39) |
|
probably benign |
Het |
| Clec4f |
G |
A |
6: 83,629,776 (GRCm39) |
Q261* |
probably null |
Het |
| Cpne4 |
A |
T |
9: 104,563,640 (GRCm39) |
N6Y |
probably damaging |
Het |
| Dhx38 |
G |
T |
8: 110,289,293 (GRCm39) |
Q36K |
probably benign |
Het |
| Dna2 |
C |
A |
10: 62,793,910 (GRCm39) |
Q341K |
probably benign |
Het |
| Dynap |
A |
G |
18: 70,375,165 (GRCm39) |
|
probably benign |
Het |
| Eif3l |
T |
C |
15: 78,973,809 (GRCm39) |
V408A |
probably benign |
Het |
| Foxi3 |
T |
A |
6: 70,934,122 (GRCm39) |
I203N |
probably damaging |
Het |
| Gcc2 |
T |
A |
10: 58,134,511 (GRCm39) |
L1495Q |
probably damaging |
Het |
| Gpr158 |
A |
G |
2: 21,830,019 (GRCm39) |
D688G |
probably damaging |
Het |
| Hcfc2 |
C |
A |
10: 82,575,079 (GRCm39) |
T246K |
probably damaging |
Het |
| Hdc |
C |
T |
2: 126,458,152 (GRCm39) |
E57K |
probably benign |
Het |
| Iqsec3 |
G |
C |
6: 121,389,743 (GRCm39) |
|
probably benign |
Het |
| Islr2 |
T |
A |
9: 58,106,645 (GRCm39) |
E205V |
probably damaging |
Het |
| Klf9 |
T |
C |
19: 23,119,498 (GRCm39) |
L127P |
probably benign |
Het |
| Lamc2 |
A |
T |
1: 152,999,840 (GRCm39) |
L1173Q |
probably damaging |
Het |
| Lipe |
G |
A |
7: 25,097,901 (GRCm39) |
T14I |
possibly damaging |
Het |
| Lnpep |
A |
G |
17: 17,751,394 (GRCm39) |
|
probably benign |
Het |
| Lrrc15 |
A |
G |
16: 30,092,566 (GRCm39) |
S258P |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,343,630 (GRCm39) |
T718A |
probably benign |
Het |
| Mtcl2 |
A |
G |
2: 156,862,612 (GRCm39) |
L1439P |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,111,445 (GRCm39) |
D1628G |
probably damaging |
Het |
| Naca |
C |
T |
10: 127,879,162 (GRCm39) |
T1398I |
probably benign |
Het |
| Or1f12 |
A |
G |
13: 21,721,416 (GRCm39) |
F238S |
possibly damaging |
Het |
| Or2a54 |
A |
T |
6: 43,093,150 (GRCm39) |
H158L |
possibly damaging |
Het |
| Padi4 |
A |
G |
4: 140,496,740 (GRCm39) |
V52A |
possibly damaging |
Het |
| Paqr5 |
G |
A |
9: 61,863,527 (GRCm39) |
T251I |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,768,967 (GRCm39) |
D1611G |
probably damaging |
Het |
| Prss12 |
G |
A |
3: 123,276,445 (GRCm39) |
R358K |
probably benign |
Het |
| Racgap1 |
A |
T |
15: 99,526,587 (GRCm39) |
H325Q |
probably damaging |
Het |
| Rbm12b1 |
A |
G |
4: 12,145,657 (GRCm39) |
H543R |
probably benign |
Het |
| Rc3h1 |
A |
T |
1: 160,795,228 (GRCm39) |
N1076I |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,415,088 (GRCm39) |
L2008P |
possibly damaging |
Het |
| Rsph3a |
A |
G |
17: 8,164,919 (GRCm39) |
H93R |
possibly damaging |
Het |
| Sbf1 |
C |
T |
15: 89,172,915 (GRCm39) |
R1840H |
probably damaging |
Het |
| Skic8 |
T |
A |
9: 54,630,219 (GRCm39) |
|
probably benign |
Het |
| Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
| Tbc1d9 |
T |
C |
8: 83,937,085 (GRCm39) |
S56P |
probably damaging |
Het |
| Tiam2 |
A |
T |
17: 3,561,346 (GRCm39) |
M1304L |
probably damaging |
Het |
| Tmprss11b |
G |
T |
5: 86,819,753 (GRCm39) |
R9S |
probably damaging |
Het |
| Tnfrsf21 |
T |
A |
17: 43,348,505 (GRCm39) |
I39N |
probably benign |
Het |
| Tnrc6b |
T |
C |
15: 80,763,604 (GRCm39) |
S369P |
probably benign |
Het |
| Tpra1 |
T |
C |
6: 88,887,372 (GRCm39) |
V217A |
probably benign |
Het |
| Uckl1 |
G |
C |
2: 181,212,283 (GRCm39) |
|
probably benign |
Het |
| Vmn1r199 |
A |
T |
13: 22,566,736 (GRCm39) |
Q10L |
probably benign |
Het |
| Vmn2r76 |
A |
G |
7: 85,879,506 (GRCm39) |
S265P |
possibly damaging |
Het |
| Vwa5b1 |
A |
T |
4: 138,321,662 (GRCm39) |
L377Q |
probably damaging |
Het |
| Wrap73 |
A |
G |
4: 154,229,776 (GRCm39) |
D49G |
probably damaging |
Het |
| Zfp764 |
T |
A |
7: 127,004,051 (GRCm39) |
Q360L |
possibly damaging |
Het |
| Zfp846 |
G |
A |
9: 20,499,224 (GRCm39) |
|
probably benign |
Het |
| Zranb2 |
T |
C |
3: 157,240,096 (GRCm39) |
I14T |
probably benign |
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 |
|
|
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'- TGGACACAACTATGTGCCAGGAAAG -3'
(R):5'- TCGGAGGACTCCTACGTACCATTC -3'
Sequencing Primer
(F):5'- GTGCCAGGAAAGTTTACAGTCTC -3'
(R):5'- ACTTTGGACTGTCCTATGGC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation