Incidental Mutation 'R8825:Macc1'
| ID |
673402 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Macc1
|
| Ensembl Gene |
ENSMUSG00000041886 |
| Gene Name |
metastasis associated in colon cancer 1 |
| Synonyms |
4732474O15Rik |
| MMRRC Submission |
068728-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R8825 (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 A
at 119409587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 118
(D118E)
|
| 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: D118E
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000042955
Gene: ENSMUSG00000041886
AA Change: D118E
| 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: D118E
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221917
AA Change: D118E
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222058
AA Change: D118E
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222784
AA Change: D118E
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (61/61) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgap2 |
T |
A |
2: 91,103,906 (GRCm39) |
L334Q |
probably damaging |
Het |
| Arhgef18 |
T |
A |
8: 3,436,951 (GRCm39) |
L247Q |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,920,500 (GRCm39) |
C2100S |
probably damaging |
Het |
| Bpi |
A |
G |
2: 158,109,670 (GRCm39) |
D206G |
probably benign |
Het |
| C6 |
T |
C |
15: 4,761,170 (GRCm39) |
I10T |
possibly damaging |
Het |
| Cactin |
A |
G |
10: 81,161,492 (GRCm39) |
T675A |
probably damaging |
Het |
| Cd200 |
G |
A |
16: 45,215,157 (GRCm39) |
R165C |
probably benign |
Het |
| Cdkal1 |
C |
T |
13: 29,538,777 (GRCm39) |
V461I |
probably benign |
Het |
| Ces2g |
C |
T |
8: 105,693,954 (GRCm39) |
S430F |
probably benign |
Het |
| Clcn3 |
A |
T |
8: 61,382,522 (GRCm39) |
H382Q |
probably damaging |
Het |
| Crem |
A |
T |
18: 3,268,061 (GRCm39) |
V89E |
probably damaging |
Het |
| Crtc2 |
T |
A |
3: 90,166,463 (GRCm39) |
M146K |
probably benign |
Het |
| Depdc1b |
T |
G |
13: 108,521,316 (GRCm39) |
D374E |
possibly damaging |
Het |
| Dgkg |
T |
A |
16: 22,381,519 (GRCm39) |
H477L |
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,343,174 (GRCm39) |
V1506D |
possibly damaging |
Het |
| Erfl |
A |
G |
7: 24,628,682 (GRCm39) |
V60A |
possibly damaging |
Het |
| Exosc10 |
G |
A |
4: 148,653,159 (GRCm39) |
|
probably null |
Het |
| Fem1al |
T |
C |
11: 29,773,696 (GRCm39) |
E587G |
probably benign |
Het |
| Flnb |
G |
T |
14: 7,887,566 (GRCm38) |
G459C |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,739,809 (GRCm39) |
D2757G |
probably benign |
Het |
| Gsta4 |
T |
G |
9: 78,116,121 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,700,626 (GRCm39) |
M1K |
probably null |
Het |
| Hip1 |
C |
T |
5: 135,450,976 (GRCm39) |
V879M |
probably damaging |
Het |
| Htt |
T |
C |
5: 34,983,304 (GRCm39) |
Y968H |
probably benign |
Het |
| Ints11 |
T |
A |
4: 155,969,587 (GRCm39) |
Y154* |
probably null |
Het |
| Itih5 |
A |
G |
2: 10,195,231 (GRCm39) |
S208G |
probably benign |
Het |
| Lamb2 |
C |
T |
9: 108,362,460 (GRCm39) |
T701I |
probably benign |
Het |
| Lgals3 |
T |
A |
14: 47,617,557 (GRCm39) |
Y22* |
probably null |
Het |
| Mad2l2 |
T |
C |
4: 148,225,277 (GRCm39) |
L9P |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,318,571 (GRCm39) |
T6A |
probably benign |
Het |
| Mcat |
T |
C |
15: 83,436,812 (GRCm39) |
N143S |
probably benign |
Het |
| Med10 |
T |
G |
13: 69,962,046 (GRCm39) |
C144G |
unknown |
Het |
| Miga1 |
A |
T |
3: 151,982,460 (GRCm39) |
F539I |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 122,849,776 (GRCm39) |
S1174T |
probably benign |
Het |
| Mycbp2 |
C |
A |
14: 103,466,871 (GRCm39) |
W1330C |
probably damaging |
Het |
| Myo5b |
T |
C |
18: 74,892,169 (GRCm39) |
S1612P |
possibly damaging |
Het |
| Nipal4 |
T |
C |
11: 46,052,873 (GRCm39) |
I31V |
probably benign |
Het |
| Obox3 |
A |
T |
7: 15,361,226 (GRCm39) |
V13E |
possibly damaging |
Het |
| Or2ag19 |
A |
T |
7: 106,444,636 (GRCm39) |
I273F |
probably damaging |
Het |
| Or8g4 |
T |
C |
9: 39,661,994 (GRCm39) |
F104S |
probably damaging |
Het |
| Ppic |
A |
G |
18: 53,542,222 (GRCm39) |
V162A |
probably damaging |
Het |
| Prkg2 |
T |
C |
5: 99,090,043 (GRCm39) |
K699R |
probably benign |
Het |
| Prl2c2 |
T |
A |
13: 13,179,656 (GRCm39) |
L6F |
possibly damaging |
Het |
| Rnf148 |
G |
C |
6: 23,654,378 (GRCm39) |
S206C |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,313,586 (GRCm39) |
S474P |
|
Het |
| Sema5a |
T |
G |
15: 32,689,498 (GRCm39) |
H1054Q |
probably benign |
Het |
| Slc6a18 |
C |
A |
13: 73,813,751 (GRCm39) |
V521F |
probably null |
Het |
| Stat2 |
T |
A |
10: 128,127,233 (GRCm39) |
D921E |
possibly damaging |
Het |
| Tcf24 |
G |
T |
1: 10,031,224 (GRCm39) |
N42K |
unknown |
Het |
| Tgfb2 |
T |
A |
1: 186,361,136 (GRCm39) |
N372Y |
probably damaging |
Het |
| Tktl2 |
A |
C |
8: 66,966,319 (GRCm39) |
M626L |
possibly damaging |
Het |
| Tmem94 |
A |
G |
11: 115,688,201 (GRCm39) |
D1220G |
probably benign |
Het |
| Trcg1 |
A |
G |
9: 57,148,754 (GRCm39) |
T109A |
probably benign |
Het |
| Trim30a |
T |
A |
7: 104,060,529 (GRCm39) |
K416* |
probably null |
Het |
| Trpm5 |
T |
C |
7: 142,636,753 (GRCm39) |
K395E |
possibly damaging |
Het |
| Ufm1 |
T |
A |
3: 53,771,093 (GRCm39) |
|
probably null |
Het |
| Unc13b |
T |
A |
4: 43,237,683 (GRCm39) |
|
probably benign |
Het |
| Vmn2r16 |
T |
C |
5: 109,487,019 (GRCm39) |
V80A |
probably benign |
Het |
| Vmn2r77 |
A |
T |
7: 86,452,855 (GRCm39) |
Y524F |
probably benign |
Het |
| Zfp1007 |
T |
G |
5: 109,826,746 (GRCm39) |
T5P |
probably damaging |
Het |
| Zfp64 |
T |
C |
2: 168,793,552 (GRCm39) |
S65G |
probably benign |
Het |
| Zng1 |
A |
G |
19: 24,926,601 (GRCm39) |
V150A |
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 |
|
|
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 |
|
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'- CCTCCATCGTGATAGTGATGC -3'
(R):5'- CTGACGTTGACTAAGCCAAGC -3'
Sequencing Primer
(F):5'- CTCCATCGTGATAGTGATGCCAAAG -3'
(R):5'- GACTAAGCCAAGCCATTTTATATGC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation