Incidental Mutation 'R4508:Amer3'
ID |
331052 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Amer3
|
Ensembl Gene |
ENSMUSG00000045174 |
Gene Name |
APC membrane recruitment 3 |
Synonyms |
9430069J07Rik, Fam123c |
MMRRC Submission |
041757-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R4508 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
34618738-34630025 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34627380 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 540
(R540G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054748
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052670]
|
AlphaFold |
Q6NS69 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000052670
AA Change: R540G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000054748 Gene: ENSMUSG00000045174 AA Change: R540G
Domain | Start | End | E-Value | Type |
Pfam:WTX
|
138 |
444 |
1.6e-37 |
PFAM |
low complexity region
|
506 |
523 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0679 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12 |
A |
G |
2: 150,746,275 (GRCm39) |
|
probably benign |
Het |
Ank |
C |
T |
15: 27,565,063 (GRCm39) |
R255W |
probably damaging |
Het |
Ank3 |
A |
C |
10: 69,728,200 (GRCm39) |
I629L |
probably damaging |
Het |
Arhgap11a |
T |
A |
2: 113,672,387 (GRCm39) |
N194Y |
probably damaging |
Het |
BB014433 |
T |
C |
8: 15,092,095 (GRCm39) |
T253A |
possibly damaging |
Het |
Ccdc40 |
C |
A |
11: 119,133,335 (GRCm39) |
D534E |
probably damaging |
Het |
Chrna2 |
C |
A |
14: 66,383,902 (GRCm39) |
N106K |
probably damaging |
Het |
Clec2f |
C |
A |
6: 128,997,474 (GRCm39) |
|
noncoding transcript |
Het |
Cnnm2 |
G |
A |
19: 46,865,709 (GRCm39) |
D766N |
probably benign |
Het |
Ctc1 |
A |
G |
11: 68,906,943 (GRCm39) |
|
probably null |
Het |
Ddc |
C |
T |
11: 11,769,393 (GRCm39) |
|
probably null |
Het |
Doc2g |
G |
A |
19: 4,054,036 (GRCm39) |
|
probably benign |
Het |
Ep400 |
T |
C |
5: 110,851,481 (GRCm39) |
T1334A |
unknown |
Het |
Epdr1 |
T |
C |
13: 19,778,659 (GRCm39) |
I44V |
probably benign |
Het |
Fbp2 |
A |
T |
13: 62,989,679 (GRCm39) |
I209N |
probably damaging |
Het |
Garin1b |
T |
C |
6: 29,323,764 (GRCm39) |
V163A |
probably benign |
Het |
Get1 |
T |
A |
16: 95,946,899 (GRCm39) |
|
probably benign |
Het |
Gldc |
G |
T |
19: 30,120,807 (GRCm39) |
Q375K |
probably damaging |
Het |
Hc |
A |
C |
2: 34,903,077 (GRCm39) |
V1058G |
possibly damaging |
Het |
Hydin |
T |
A |
8: 111,245,886 (GRCm39) |
S2200T |
possibly damaging |
Het |
Kcnc1 |
C |
T |
7: 46,077,712 (GRCm39) |
P505S |
probably benign |
Het |
Kifc3 |
T |
C |
8: 95,834,048 (GRCm39) |
|
probably null |
Het |
Klhl10 |
A |
G |
11: 100,333,002 (GRCm39) |
E49G |
possibly damaging |
Het |
Lhx5 |
T |
C |
5: 120,573,499 (GRCm39) |
S161P |
probably damaging |
Het |
Lilra6 |
G |
T |
7: 3,915,028 (GRCm39) |
Y455* |
probably null |
Het |
Lzts1 |
C |
T |
8: 69,588,270 (GRCm39) |
R562H |
probably benign |
Het |
Muc6 |
G |
A |
7: 141,226,356 (GRCm39) |
|
probably benign |
Het |
Ogfod2 |
C |
T |
5: 124,251,317 (GRCm39) |
Q74* |
probably null |
Het |
Or4f56 |
A |
C |
2: 111,703,947 (GRCm39) |
D84E |
probably damaging |
Het |
Or5h17 |
T |
A |
16: 58,820,138 (GRCm39) |
V30E |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,633,385 (GRCm39) |
|
probably null |
Het |
Ptpre |
T |
C |
7: 135,270,832 (GRCm39) |
L329P |
probably damaging |
Het |
Rnh1 |
T |
C |
7: 140,744,456 (GRCm39) |
Q73R |
possibly damaging |
Het |
Scly |
G |
A |
1: 91,236,047 (GRCm39) |
V100I |
possibly damaging |
Het |
Sos2 |
A |
T |
12: 69,682,435 (GRCm39) |
L261* |
probably null |
Het |
Sp1 |
A |
C |
15: 102,317,747 (GRCm39) |
Q422P |
possibly damaging |
Het |
Sp3 |
A |
T |
2: 72,800,741 (GRCm39) |
F468Y |
probably damaging |
Het |
Tenm2 |
T |
C |
11: 35,899,172 (GRCm39) |
Y2662C |
possibly damaging |
Het |
Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
Tmprss2 |
C |
A |
16: 97,371,627 (GRCm39) |
G281C |
probably damaging |
Het |
Tmprss6 |
A |
T |
15: 78,343,978 (GRCm39) |
Y183N |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,580,684 (GRCm39) |
L23403Q |
probably damaging |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Vmn1r90 |
T |
C |
7: 14,296,084 (GRCm39) |
N5D |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,709,819 (GRCm39) |
D1922G |
possibly 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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAGGAATGTTTGCTGAAGCTCTG -3'
(R):5'- CATGGTAGCTTCAGAGGAGG -3'
Sequencing Primer
(F):5'- TGCTGAAGCTCTGTGACACAG -3'
(R):5'- ACTGGCCTTCAGAGAAGTCTTG -3'
|
Posted On |
2015-07-21 |