Incidental Mutation 'R6769:Amer3'
ID |
532067 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Amer3
|
Ensembl Gene |
ENSMUSG00000045174 |
Gene Name |
APC membrane recruitment 3 |
Synonyms |
9430069J07Rik, Fam123c |
MMRRC Submission |
044885-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R6769 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
34618738-34630025 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 34627330 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Aspartic acid
at position 523
(A523D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054748
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052670]
|
AlphaFold |
Q6NS69 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052670
AA Change: A523D
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000054748 Gene: ENSMUSG00000045174 AA Change: A523D
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
Validation Efficiency |
98% (39/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd8 |
G |
T |
8: 71,914,105 (GRCm39) |
H174Q |
probably damaging |
Het |
Alox5 |
C |
A |
6: 116,392,145 (GRCm39) |
|
probably null |
Het |
Apoa4 |
G |
A |
9: 46,154,465 (GRCm39) |
M355I |
probably benign |
Het |
Atp10b |
T |
C |
11: 43,094,079 (GRCm39) |
|
probably null |
Het |
Atp9a |
A |
T |
2: 168,516,820 (GRCm39) |
Y340N |
probably damaging |
Het |
C1rb |
T |
G |
6: 124,554,364 (GRCm39) |
S382A |
probably benign |
Het |
Csmd1 |
A |
G |
8: 16,121,408 (GRCm39) |
V1763A |
possibly damaging |
Het |
Ctnnd1 |
C |
A |
2: 84,450,269 (GRCm39) |
R317L |
probably damaging |
Het |
Ctnnd1 |
A |
T |
2: 84,450,454 (GRCm39) |
D255E |
probably damaging |
Het |
Dipk1b |
A |
G |
2: 26,524,875 (GRCm39) |
R92G |
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,323,808 (GRCm39) |
I1192N |
probably damaging |
Het |
Efcab5 |
A |
G |
11: 76,996,258 (GRCm39) |
V1101A |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Flg |
T |
C |
3: 93,195,630 (GRCm39) |
|
probably benign |
Het |
Fras1 |
A |
G |
5: 96,746,800 (GRCm39) |
I623M |
possibly damaging |
Het |
Gm7361 |
T |
A |
5: 26,462,767 (GRCm39) |
L3* |
probably null |
Het |
Gpr35 |
T |
A |
1: 92,910,426 (GRCm39) |
M46K |
probably damaging |
Het |
Ighv2-9 |
A |
T |
12: 113,842,930 (GRCm39) |
F46I |
possibly damaging |
Het |
Kdm4b |
C |
T |
17: 56,658,754 (GRCm39) |
A33V |
possibly damaging |
Het |
Klhl5 |
T |
A |
5: 65,321,995 (GRCm39) |
Y534N |
probably damaging |
Het |
Mccc1 |
C |
T |
3: 36,043,992 (GRCm39) |
|
probably null |
Het |
Memo1 |
A |
T |
17: 74,508,273 (GRCm39) |
F270L |
probably damaging |
Het |
Mnat1 |
A |
G |
12: 73,319,196 (GRCm39) |
N273S |
probably benign |
Het |
Niban2 |
C |
T |
2: 32,785,666 (GRCm39) |
|
|
Het |
Nxpe3 |
C |
A |
16: 55,686,471 (GRCm39) |
G179V |
probably damaging |
Het |
Or5b120 |
T |
A |
19: 13,480,318 (GRCm39) |
F204I |
possibly damaging |
Het |
Otp |
A |
G |
13: 95,012,294 (GRCm39) |
D6G |
probably damaging |
Het |
Prdm5 |
T |
A |
6: 65,839,920 (GRCm39) |
I265K |
probably damaging |
Het |
Ptpn4 |
T |
A |
1: 119,643,698 (GRCm39) |
N350I |
probably benign |
Het |
Rassf10 |
A |
G |
7: 112,553,635 (GRCm39) |
M79V |
probably benign |
Het |
Rassf4 |
T |
A |
6: 116,618,433 (GRCm39) |
D215V |
possibly damaging |
Het |
Rbm12 |
A |
T |
2: 155,939,375 (GRCm39) |
I299N |
possibly damaging |
Het |
Scfd2 |
T |
C |
5: 74,692,117 (GRCm39) |
H55R |
probably benign |
Het |
Scn8a |
A |
G |
15: 100,933,445 (GRCm39) |
N1550D |
probably benign |
Het |
Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
Slc30a5 |
A |
C |
13: 100,950,368 (GRCm39) |
S240A |
probably benign |
Het |
Slc7a4 |
A |
G |
16: 17,393,184 (GRCm39) |
V205A |
possibly damaging |
Het |
Syde2 |
G |
A |
3: 145,704,803 (GRCm39) |
G318E |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,538,883 (GRCm39) |
D34649V |
possibly damaging |
Het |
Vmn2r83 |
T |
A |
10: 79,313,856 (GRCm39) |
S155T |
probably damaging |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTGTCTATGTGCAGCTTCCG -3'
(R):5'- TTGCAGGCTCTCCTAAGACC -3'
Sequencing Primer
(F):5'- AGGAGAACCTGGCCCCAG -3'
(R):5'- GGCTCTCCTAAGACCTCACACTC -3'
|
Posted On |
2018-08-29 |