Incidental Mutation 'IGL01062:Amer3'
| ID |
50171 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Amer3
|
| Ensembl Gene |
ENSMUSG00000045174 |
| Gene Name |
APC membrane recruitment 3 |
| Synonyms |
9430069J07Rik, Fam123c |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL01062
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
34618738-34630025 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34625820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 20
(K20E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054748
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052670]
|
| AlphaFold |
Q6NS69 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052670
AA Change: K20E
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000054748
Gene: ENSMUSG00000045174
AA Change: K20E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WTX
|
138 |
444 |
1.6e-37 |
PFAM |
|
low complexity region
|
506 |
523 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,421,818 (GRCm39) |
L1416P |
probably damaging |
Het |
| Avpr1a |
G |
A |
10: 122,285,434 (GRCm39) |
C242Y |
probably damaging |
Het |
| Bclaf3 |
T |
C |
X: 158,336,415 (GRCm39) |
Y281H |
probably benign |
Het |
| Cdc14a |
T |
A |
3: 116,068,361 (GRCm39) |
|
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cntn4 |
T |
C |
6: 106,595,239 (GRCm39) |
|
probably benign |
Het |
| Cyp3a44 |
T |
A |
5: 145,731,149 (GRCm39) |
D217V |
possibly damaging |
Het |
| Eprs1 |
A |
G |
1: 185,111,812 (GRCm39) |
E274G |
probably benign |
Het |
| Ercc6l2 |
G |
T |
13: 63,995,268 (GRCm39) |
Q354H |
probably null |
Het |
| Glb1l |
A |
T |
1: 75,177,882 (GRCm39) |
I392N |
probably damaging |
Het |
| Gm3173 |
T |
C |
14: 15,728,472 (GRCm39) |
|
probably null |
Het |
| Hadh |
C |
T |
3: 131,034,640 (GRCm39) |
V219M |
probably damaging |
Het |
| Hspb9 |
A |
G |
11: 100,604,761 (GRCm39) |
H29R |
possibly damaging |
Het |
| Iqgap3 |
G |
T |
3: 88,017,429 (GRCm39) |
V240L |
probably benign |
Het |
| Jmjd1c |
T |
C |
10: 67,062,494 (GRCm39) |
S1616P |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,907,461 (GRCm39) |
I1662V |
probably benign |
Het |
| Maco1 |
A |
T |
4: 134,560,608 (GRCm39) |
V125E |
probably damaging |
Het |
| Mapre3 |
A |
G |
5: 31,022,240 (GRCm39) |
I236V |
probably benign |
Het |
| Med17 |
T |
C |
9: 15,190,917 (GRCm39) |
E58G |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,189,749 (GRCm39) |
E1099G |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,439,522 (GRCm39) |
V348D |
probably damaging |
Het |
| Nat10 |
A |
T |
2: 103,573,393 (GRCm39) |
I368N |
probably damaging |
Het |
| Nol6 |
T |
C |
4: 41,118,205 (GRCm39) |
I811V |
probably benign |
Het |
| Oas1d |
C |
A |
5: 121,057,127 (GRCm39) |
Y244* |
probably null |
Het |
| Or6e1 |
A |
T |
14: 54,520,181 (GRCm39) |
M57K |
probably damaging |
Het |
| Osbpl1a |
A |
G |
18: 13,038,132 (GRCm39) |
V273A |
probably benign |
Het |
| Pigw |
T |
C |
11: 84,768,769 (GRCm39) |
R187G |
probably benign |
Het |
| Plekhg5 |
G |
A |
4: 152,192,953 (GRCm39) |
D603N |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,456,414 (GRCm39) |
V1058A |
probably damaging |
Het |
| Robo4 |
G |
A |
9: 37,317,296 (GRCm39) |
S537N |
probably benign |
Het |
| Rptn |
T |
A |
3: 93,304,489 (GRCm39) |
F607L |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,759,972 (GRCm39) |
V44A |
probably damaging |
Het |
| Sh3bp4 |
C |
A |
1: 89,071,682 (GRCm39) |
Q177K |
probably benign |
Het |
| Skic3 |
T |
A |
13: 76,303,581 (GRCm39) |
L1225* |
probably null |
Het |
| Spmip6 |
T |
A |
4: 41,511,433 (GRCm39) |
E93D |
probably damaging |
Het |
| Srrt |
C |
A |
5: 137,294,569 (GRCm39) |
G779V |
probably damaging |
Het |
| Tamalin |
A |
G |
15: 101,126,777 (GRCm39) |
|
probably benign |
Het |
| Tex21 |
T |
C |
12: 76,245,718 (GRCm39) |
D526G |
probably benign |
Het |
| Vmn1r10 |
A |
G |
6: 57,090,821 (GRCm39) |
S138G |
possibly damaging |
Het |
| Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
| Zfp454 |
T |
C |
11: 50,765,033 (GRCm39) |
E22G |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,765,795 (GRCm39) |
C1441S |
probably benign |
Het |
|
| Other mutations in Amer3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00494:Amer3
|
APN |
1 |
34,627,608 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01501:Amer3
|
APN |
1 |
34,627,398 (GRCm39) |
missense |
probably benign |
|
|
IGL02642:Amer3
|
APN |
1 |
34,625,761 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02861:Amer3
|
APN |
1 |
34,627,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02953:Amer3
|
APN |
1 |
34,626,877 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0183:Amer3
|
UTSW |
1 |
34,626,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0335:Amer3
|
UTSW |
1 |
34,618,381 (GRCm39) |
unclassified |
probably benign |
|
|
R0639:Amer3
|
UTSW |
1 |
34,626,902 (GRCm39) |
nonsense |
probably null |
|
|
R1391:Amer3
|
UTSW |
1 |
34,627,470 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1514:Amer3
|
UTSW |
1 |
34,618,408 (GRCm39) |
unclassified |
probably benign |
|
|
R1615:Amer3
|
UTSW |
1 |
34,627,252 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2014:Amer3
|
UTSW |
1 |
34,618,525 (GRCm39) |
unclassified |
probably benign |
|
|
R2104:Amer3
|
UTSW |
1 |
34,627,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3080:Amer3
|
UTSW |
1 |
34,627,503 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4508:Amer3
|
UTSW |
1 |
34,627,380 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4635:Amer3
|
UTSW |
1 |
34,626,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4978:Amer3
|
UTSW |
1 |
34,618,381 (GRCm39) |
unclassified |
probably benign |
|
|
R4990:Amer3
|
UTSW |
1 |
34,627,822 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4991:Amer3
|
UTSW |
1 |
34,627,822 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5112:Amer3
|
UTSW |
1 |
34,626,157 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5645:Amer3
|
UTSW |
1 |
34,627,462 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6483:Amer3
|
UTSW |
1 |
34,626,771 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6769:Amer3
|
UTSW |
1 |
34,627,330 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7097:Amer3
|
UTSW |
1 |
34,627,869 (GRCm39) |
missense |
probably benign |
|
|
R7246:Amer3
|
UTSW |
1 |
34,625,809 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7347:Amer3
|
UTSW |
1 |
34,626,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7466:Amer3
|
UTSW |
1 |
34,627,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7719:Amer3
|
UTSW |
1 |
34,628,083 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8158:Amer3
|
UTSW |
1 |
34,626,741 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8862:Amer3
|
UTSW |
1 |
34,626,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9028:Amer3
|
UTSW |
1 |
34,627,758 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9287:Amer3
|
UTSW |
1 |
34,627,900 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9567:Amer3
|
UTSW |
1 |
34,627,836 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9620:Amer3
|
UTSW |
1 |
34,628,043 (GRCm39) |
missense |
probably benign |
0.09 |
|
RF016:Amer3
|
UTSW |
1 |
34,626,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Amer3
|
UTSW |
1 |
34,627,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Amer3
|
UTSW |
1 |
34,628,094 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Amer3
|
UTSW |
1 |
34,626,277 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation