Incidental Mutation 'R3915:Macc1'
| ID |
309613 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Macc1
|
| Ensembl Gene |
ENSMUSG00000041886 |
| Gene Name |
metastasis associated in colon cancer 1 |
| Synonyms |
4732474O15Rik |
| MMRRC Submission |
040913-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R3915 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
119354133-119430669 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119410551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 440
(C440R)
|
| 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: C440R
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000042955
Gene: ENSMUSG00000041886
AA Change: C440R
| 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: C440R
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221917
AA Change: C440R
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222058
AA Change: C440R
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222784
AA Change: C440R
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.0588 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
98% (43/44) |
| 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 |
|---|
| 1700109H08Rik |
G |
A |
5: 3,627,248 (GRCm39) |
V75I |
possibly damaging |
Het |
| AA986860 |
A |
G |
1: 130,670,344 (GRCm39) |
K189E |
probably benign |
Het |
| Abcf1 |
C |
T |
17: 36,270,402 (GRCm39) |
R596H |
possibly damaging |
Het |
| Abtb3 |
C |
A |
10: 85,468,134 (GRCm39) |
H810N |
probably damaging |
Het |
| Axl |
T |
C |
7: 25,460,169 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,886,603 (GRCm39) |
K644E |
probably benign |
Het |
| Btnl7-ps |
T |
A |
17: 34,760,489 (GRCm39) |
|
noncoding transcript |
Het |
| Car8 |
A |
T |
4: 8,184,576 (GRCm39) |
|
probably benign |
Het |
| Ccdc62 |
C |
T |
5: 124,092,778 (GRCm39) |
R588C |
probably damaging |
Het |
| Clasp2 |
T |
G |
9: 113,737,805 (GRCm39) |
S374A |
probably damaging |
Het |
| Ctnnb1 |
A |
G |
9: 120,784,717 (GRCm39) |
H503R |
probably benign |
Het |
| Cwf19l2 |
A |
G |
9: 3,456,776 (GRCm39) |
H703R |
probably damaging |
Het |
| Efcab7 |
A |
T |
4: 99,735,375 (GRCm39) |
Q133L |
probably damaging |
Het |
| Ehmt2 |
T |
C |
17: 35,122,443 (GRCm39) |
S280P |
probably damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,420 (GRCm39) |
T294S |
probably benign |
Het |
| Eomes |
A |
G |
9: 118,310,341 (GRCm39) |
M351V |
probably benign |
Het |
| Ets2 |
G |
A |
16: 95,520,037 (GRCm39) |
R421H |
probably damaging |
Het |
| Fam222b |
C |
G |
11: 78,045,756 (GRCm39) |
P439R |
probably benign |
Het |
| Gbp11 |
T |
A |
5: 105,478,978 (GRCm39) |
K153N |
probably damaging |
Het |
| Golim4 |
T |
C |
3: 75,810,634 (GRCm39) |
T174A |
probably damaging |
Het |
| Grid1 |
A |
G |
14: 35,242,684 (GRCm39) |
Y679C |
probably damaging |
Het |
| Gvin-ps5 |
A |
G |
7: 105,929,445 (GRCm39) |
S151P |
probably benign |
Het |
| Ikzf3 |
T |
C |
11: 98,381,412 (GRCm39) |
D56G |
probably damaging |
Het |
| Kcnj16 |
A |
G |
11: 110,916,382 (GRCm39) |
D348G |
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,103,957 (GRCm39) |
L1319P |
possibly damaging |
Het |
| Lrp1b |
T |
A |
2: 41,339,248 (GRCm39) |
D751V |
probably damaging |
Het |
| Mbd2 |
T |
C |
18: 70,755,680 (GRCm39) |
V382A |
probably benign |
Het |
| Or13a17 |
T |
A |
7: 140,270,888 (GRCm39) |
D23E |
probably benign |
Het |
| Or51a25 |
C |
T |
7: 102,373,409 (GRCm39) |
R96H |
possibly damaging |
Het |
| Or6c68 |
G |
A |
10: 129,158,178 (GRCm39) |
A229T |
probably benign |
Het |
| Pgs1 |
T |
G |
11: 117,910,472 (GRCm39) |
S528A |
probably benign |
Het |
| Pitpnm3 |
T |
C |
11: 72,003,110 (GRCm39) |
T67A |
probably damaging |
Het |
| Pnliprp2 |
T |
G |
19: 58,748,794 (GRCm39) |
V33G |
probably damaging |
Het |
| Ptn |
T |
C |
6: 36,720,282 (GRCm39) |
N90S |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 161,397,475 (GRCm39) |
|
probably benign |
Het |
| Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
| Rasgrp1 |
G |
A |
2: 117,119,122 (GRCm39) |
S505F |
probably damaging |
Het |
| Sesn1 |
G |
A |
10: 41,770,886 (GRCm39) |
R139H |
probably benign |
Het |
| Slc17a7 |
T |
A |
7: 44,818,144 (GRCm39) |
L23Q |
probably damaging |
Het |
| Slc30a10 |
G |
T |
1: 185,187,333 (GRCm39) |
E25* |
probably null |
Het |
| Smco1 |
A |
G |
16: 32,092,583 (GRCm39) |
I85V |
probably benign |
Het |
| Vmn1r76 |
A |
T |
7: 11,664,496 (GRCm39) |
S239R |
probably benign |
Het |
| Zc3h7a |
A |
T |
16: 10,974,074 (GRCm39) |
V237D |
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 |
|
|
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'- CCACCAGCTGCTACTATTTGG -3'
(R):5'- GACAAAGAACTGTGTCACTGG -3'
Sequencing Primer
(F):5'- ACCACCTCTATTGGAATTTATGGACC -3'
(R):5'- CAAAGAACTGTGTCACTGGTTTTTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation