Incidental Mutation 'R7715:Macc1'
| ID |
594876 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Macc1
|
| Ensembl Gene |
ENSMUSG00000041886 |
| Gene Name |
metastasis associated in colon cancer 1 |
| Synonyms |
4732474O15Rik |
| MMRRC Submission |
045773-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R7715 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
119354133-119430669 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 119409991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 253
(A253V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048880]
[ENSMUST00000221866]
[ENSMUST00000221917]
[ENSMUST00000222058]
[ENSMUST00000222784]
|
| AlphaFold |
E9PXX8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048880
AA Change: A253V
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000042955
Gene: ENSMUSG00000041886
AA Change: A253V
| 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 |
possibly damaging
Transcript: ENSMUST00000221866
AA Change: A253V
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221917
AA Change: A253V
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222058
AA Change: A253V
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222784
AA Change: A253V
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (67/68) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
A |
G |
1: 53,221,659 (GRCm39) |
F57L |
probably benign |
Het |
| Agl |
C |
T |
3: 116,551,905 (GRCm39) |
R563Q |
|
Het |
| Ahctf1 |
A |
G |
1: 179,598,413 (GRCm39) |
M919T |
probably benign |
Het |
| Ano4 |
A |
T |
10: 88,831,173 (GRCm39) |
N483K |
probably damaging |
Het |
| Armt1 |
A |
G |
10: 4,400,751 (GRCm39) |
K166R |
probably benign |
Het |
| Asgr2 |
T |
C |
11: 69,987,721 (GRCm39) |
V73A |
probably benign |
Het |
| Atp6v0a2 |
A |
C |
5: 124,791,262 (GRCm39) |
T564P |
probably damaging |
Het |
| B3gntl1 |
T |
C |
11: 121,530,622 (GRCm39) |
T150A |
possibly damaging |
Het |
| Bach1 |
A |
G |
16: 87,516,859 (GRCm39) |
I467V |
possibly damaging |
Het |
| Bicd1 |
A |
G |
6: 149,414,471 (GRCm39) |
K395E |
probably benign |
Het |
| Cadps |
G |
A |
14: 12,457,762 (GRCm38) |
P1040S |
probably benign |
Het |
| Calcoco2 |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,862 (GRCm39) |
|
probably null |
Het |
| Canx |
A |
G |
11: 50,201,631 (GRCm39) |
S80P |
probably benign |
Het |
| Ccdc149 |
T |
A |
5: 52,561,533 (GRCm39) |
|
probably null |
Het |
| Cd34 |
A |
T |
1: 194,631,624 (GRCm39) |
N87Y |
probably damaging |
Het |
| Cdh11 |
T |
A |
8: 103,391,346 (GRCm39) |
I297F |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,400,197 (GRCm39) |
N439D |
probably damaging |
Het |
| Cip2a |
A |
T |
16: 48,834,347 (GRCm39) |
Q643L |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,351,379 (GRCm39) |
I1569V |
unknown |
Het |
| Cxcr4 |
C |
T |
1: 128,517,479 (GRCm39) |
V61M |
probably damaging |
Het |
| Cyp20a1 |
G |
A |
1: 60,411,764 (GRCm39) |
V271M |
probably benign |
Het |
| Cyp2b23 |
T |
C |
7: 26,381,120 (GRCm39) |
Y79C |
probably benign |
Het |
| Daam1 |
A |
G |
12: 72,035,675 (GRCm39) |
K957E |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,664,427 (GRCm39) |
K947E |
probably damaging |
Het |
| Efcab12 |
T |
C |
6: 115,800,504 (GRCm39) |
K173R |
possibly damaging |
Het |
| Emc1 |
C |
T |
4: 139,098,934 (GRCm39) |
R806C |
probably damaging |
Het |
| Epg5 |
G |
A |
18: 78,011,801 (GRCm39) |
R816Q |
probably damaging |
Het |
| Faf1 |
G |
T |
4: 109,568,011 (GRCm39) |
D24Y |
probably damaging |
Het |
| Fchsd1 |
A |
T |
18: 38,099,695 (GRCm39) |
|
probably null |
Het |
| Foxp1 |
T |
C |
6: 98,922,621 (GRCm39) |
T404A |
unknown |
Het |
| Fra10ac1 |
T |
C |
19: 38,178,286 (GRCm39) |
E299G |
probably damaging |
Het |
| Gon4l |
A |
G |
3: 88,815,313 (GRCm39) |
T1959A |
probably benign |
Het |
| Gpam |
A |
C |
19: 55,077,353 (GRCm39) |
V146G |
probably benign |
Het |
| Hephl1 |
T |
A |
9: 14,972,081 (GRCm39) |
D953V |
probably benign |
Het |
| Kcnc2 |
G |
T |
10: 112,107,845 (GRCm39) |
E79* |
probably null |
Het |
| Kcnj12 |
T |
A |
11: 60,957,778 (GRCm39) |
|
probably null |
Het |
| Llgl2 |
A |
T |
11: 115,740,554 (GRCm39) |
T417S |
probably benign |
Het |
| Lrrc17 |
A |
T |
5: 21,766,078 (GRCm39) |
N187Y |
probably damaging |
Het |
| Mark1 |
A |
G |
1: 184,639,431 (GRCm39) |
S529P |
probably damaging |
Het |
| Mfsd6l |
T |
C |
11: 68,448,376 (GRCm39) |
L409P |
probably damaging |
Het |
| Nek1 |
A |
G |
8: 61,459,794 (GRCm39) |
E34G |
probably damaging |
Het |
| Nlrp3 |
T |
A |
11: 59,433,829 (GRCm39) |
|
probably null |
Het |
| Obsl1 |
A |
T |
1: 75,478,680 (GRCm39) |
V686D |
probably damaging |
Het |
| Or2l5 |
C |
T |
16: 19,333,480 (GRCm39) |
R302K |
probably benign |
Het |
| Or55b10 |
T |
A |
7: 102,143,668 (GRCm39) |
M105L |
possibly damaging |
Het |
| Or7h8 |
G |
A |
9: 20,123,731 (GRCm39) |
G29R |
probably damaging |
Het |
| Or7h8 |
G |
A |
9: 20,123,732 (GRCm39) |
G29E |
probably benign |
Het |
| Or8c15 |
T |
A |
9: 38,120,775 (GRCm39) |
M140K |
probably benign |
Het |
| Or8g18 |
A |
T |
9: 39,149,174 (GRCm39) |
L182H |
probably damaging |
Het |
| Ostm1 |
G |
A |
10: 42,559,183 (GRCm39) |
G148R |
probably benign |
Het |
| Oxsr1 |
A |
G |
9: 119,071,822 (GRCm39) |
S470P |
probably damaging |
Het |
| Pacs1 |
C |
T |
19: 5,191,709 (GRCm39) |
M709I |
probably benign |
Het |
| Pan2 |
A |
G |
10: 128,153,592 (GRCm39) |
M963V |
probably benign |
Het |
| Pds5a |
A |
G |
5: 65,795,904 (GRCm39) |
L662P |
possibly damaging |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,119 (GRCm39) |
|
probably benign |
Het |
| Sh2b2 |
T |
C |
5: 136,247,889 (GRCm39) |
N554S |
probably benign |
Het |
| Sh3gl2 |
T |
A |
4: 85,317,077 (GRCm39) |
|
probably null |
Het |
| Slc24a4 |
A |
G |
12: 102,185,219 (GRCm39) |
M93V |
possibly damaging |
Het |
| Sohlh1 |
A |
G |
2: 25,734,640 (GRCm39) |
S218P |
possibly damaging |
Het |
| Spast |
T |
A |
17: 74,675,921 (GRCm39) |
N321K |
probably benign |
Het |
| Srcap |
T |
G |
7: 127,148,460 (GRCm39) |
I1936S |
probably damaging |
Het |
| Themis |
G |
A |
10: 28,739,305 (GRCm39) |
V592I |
probably benign |
Het |
| Tnfrsf1a |
C |
T |
6: 125,338,377 (GRCm39) |
T296I |
possibly damaging |
Het |
| Ttk |
A |
G |
9: 83,747,206 (GRCm39) |
T682A |
probably benign |
Het |
| Virma |
C |
T |
4: 11,549,682 (GRCm39) |
R1807W |
probably damaging |
Het |
| Virma |
A |
G |
4: 11,513,016 (GRCm39) |
|
probably null |
Het |
| Vmn2r101 |
T |
A |
17: 19,832,177 (GRCm39) |
D724E |
probably damaging |
Het |
| Vmn2r11 |
A |
G |
5: 109,195,307 (GRCm39) |
V673A |
probably damaging |
Het |
| Wbp4 |
C |
T |
14: 79,703,734 (GRCm39) |
S271N |
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 |
|
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'- ATGGCTTGGCTTAGTCAACG -3'
(R):5'- AGGCTGTACAAACACACCATTTTAG -3'
Sequencing Primer
(F):5'- AACGTCAGTTGGCTCGCTC -3'
(R):5'- AGTCATGACTTGGCTCAGAGGATC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation