Incidental Mutation 'IGL02953:Amer3'
| ID |
364998 |
| 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: 0.058)
|
| Stock # |
IGL02953
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
34618738-34630025 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34626877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 372
(V372A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054748
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052670]
|
| AlphaFold |
Q6NS69 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052670
AA Change: V372A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000054748
Gene: ENSMUSG00000045174
AA Change: V372A
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057N15Rik |
A |
G |
16: 88,570,534 (GRCm39) |
S169P |
possibly damaging |
Het |
| Adap2 |
G |
A |
11: 80,045,126 (GRCm39) |
G29R |
probably damaging |
Het |
| Adcy2 |
A |
T |
13: 68,877,447 (GRCm39) |
I431N |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,385,157 (GRCm39) |
V267D |
probably benign |
Het |
| Atp6v0b |
A |
T |
4: 117,742,419 (GRCm39) |
V111E |
probably damaging |
Het |
| Cep20 |
T |
C |
16: 14,122,339 (GRCm39) |
K142E |
probably benign |
Het |
| Clmp |
T |
A |
9: 40,685,683 (GRCm39) |
L193Q |
probably damaging |
Het |
| Dcaf7 |
T |
G |
11: 105,942,702 (GRCm39) |
Y216* |
probably null |
Het |
| Dcbld2 |
T |
A |
16: 58,272,100 (GRCm39) |
D385E |
probably benign |
Het |
| Des |
T |
A |
1: 75,340,288 (GRCm39) |
D398E |
possibly damaging |
Het |
| Fancm |
C |
T |
12: 65,168,740 (GRCm39) |
T1701I |
probably benign |
Het |
| Fat1 |
C |
A |
8: 45,477,351 (GRCm39) |
D2132E |
probably damaging |
Het |
| Fkbp14 |
T |
C |
6: 54,556,667 (GRCm39) |
K161R |
probably damaging |
Het |
| Fuca2 |
C |
T |
10: 13,383,173 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
T |
A |
19: 56,302,664 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
| Herc3 |
C |
T |
6: 58,834,718 (GRCm39) |
Q242* |
probably null |
Het |
| Igkv4-81 |
T |
C |
6: 68,967,981 (GRCm39) |
K40R |
probably benign |
Het |
| Irf5 |
C |
A |
6: 29,536,671 (GRCm39) |
H461N |
possibly damaging |
Het |
| Lypd11 |
C |
T |
7: 24,422,991 (GRCm39) |
C109Y |
probably damaging |
Het |
| Nav2 |
G |
A |
7: 49,198,171 (GRCm39) |
V1267M |
probably damaging |
Het |
| Nlk |
A |
G |
11: 78,517,527 (GRCm39) |
V155A |
probably benign |
Het |
| Nup214 |
C |
T |
2: 31,878,241 (GRCm39) |
H303Y |
possibly damaging |
Het |
| Pld1 |
A |
C |
3: 28,166,396 (GRCm39) |
M812L |
probably benign |
Het |
| Rab11fip3 |
C |
A |
17: 26,286,653 (GRCm39) |
R500L |
possibly damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,602,194 (GRCm39) |
E389K |
probably benign |
Het |
| Serpina3a |
C |
T |
12: 104,082,748 (GRCm39) |
R174C |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,713,329 (GRCm39) |
R405G |
possibly damaging |
Het |
| Srpx |
A |
T |
X: 9,983,706 (GRCm39) |
|
probably benign |
Het |
| St18 |
T |
A |
1: 6,914,337 (GRCm39) |
|
probably benign |
Het |
| Tcerg1 |
C |
T |
18: 42,681,535 (GRCm39) |
P561S |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,205,634 (GRCm39) |
N757K |
probably benign |
Het |
| Trrap |
G |
T |
5: 144,752,774 (GRCm39) |
L1782F |
probably damaging |
Het |
| Tut1 |
G |
T |
19: 8,940,056 (GRCm39) |
V347L |
probably damaging |
Het |
| Txnip |
T |
A |
3: 96,465,682 (GRCm39) |
V44D |
probably damaging |
Het |
| Usp8 |
C |
T |
2: 126,579,857 (GRCm39) |
T369I |
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,746,224 (GRCm39) |
N842S |
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 |
|
IGL01062:Amer3
|
APN |
1 |
34,625,820 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation