Incidental Mutation 'R4635:Amer3'
ID |
349423 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Amer3
|
Ensembl Gene |
ENSMUSG00000045174 |
Gene Name |
APC membrane recruitment 3 |
Synonyms |
9430069J07Rik, Fam123c |
MMRRC Submission |
041899-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R4635 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
34618738-34630025 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 34626958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 399
(T399K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054748
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052670]
|
AlphaFold |
Q6NS69 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052670
AA Change: T399K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000054748 Gene: ENSMUSG00000045174 AA Change: T399K
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
98% (39/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
A |
T |
5: 8,764,927 (GRCm39) |
K639I |
probably benign |
Het |
Arfgef3 |
T |
C |
10: 18,510,603 (GRCm39) |
Y786C |
probably damaging |
Het |
Arhgef26 |
A |
G |
3: 62,247,861 (GRCm39) |
Y315C |
probably damaging |
Het |
Ccdc121 |
G |
A |
5: 31,645,435 (GRCm39) |
R396Q |
probably benign |
Het |
Chchd6 |
T |
C |
6: 89,444,448 (GRCm39) |
E178G |
probably damaging |
Het |
Chd3 |
TGCTGCCGCTGCCGC |
TGCTGCCGCTGCCGCTGCCGC |
11: 69,253,013 (GRCm39) |
|
probably benign |
Het |
Daam1 |
T |
A |
12: 72,005,518 (GRCm39) |
|
probably null |
Het |
Ddx60 |
A |
G |
8: 62,490,101 (GRCm39) |
E1690G |
probably benign |
Het |
Eme2 |
G |
T |
17: 25,113,882 (GRCm39) |
P48T |
probably benign |
Het |
Ferd3l |
T |
C |
12: 33,978,835 (GRCm39) |
M116T |
probably damaging |
Het |
Gm13141 |
GGTTTCTTGATGCCA |
G |
4: 147,612,561 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2i |
T |
C |
5: 134,274,028 (GRCm39) |
N727D |
probably damaging |
Het |
Hao1 |
T |
A |
2: 134,365,072 (GRCm39) |
N185I |
probably damaging |
Het |
Kifap3 |
C |
T |
1: 163,642,004 (GRCm39) |
T195I |
probably damaging |
Het |
Mag |
A |
G |
7: 30,606,348 (GRCm39) |
F363S |
probably damaging |
Het |
Mef2a |
A |
G |
7: 66,890,175 (GRCm39) |
I135T |
possibly damaging |
Het |
Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
Nphs1 |
T |
C |
7: 30,167,432 (GRCm39) |
F787L |
probably benign |
Het |
Nr1h2 |
A |
C |
7: 44,201,961 (GRCm39) |
S42A |
probably benign |
Het |
Odad4 |
C |
T |
11: 100,442,333 (GRCm39) |
Q164* |
probably null |
Het |
Or10ag2 |
T |
A |
2: 87,249,043 (GRCm39) |
M217K |
probably benign |
Het |
Or4a76 |
A |
C |
2: 89,460,516 (GRCm39) |
I242S |
possibly damaging |
Het |
Or51aa2 |
T |
C |
7: 103,188,355 (GRCm39) |
I29V |
probably benign |
Het |
Or5ak23 |
T |
A |
2: 85,245,208 (GRCm39) |
N5I |
probably damaging |
Het |
Rab38 |
T |
C |
7: 88,099,854 (GRCm39) |
V123A |
probably damaging |
Het |
Scd1 |
T |
C |
19: 44,395,024 (GRCm39) |
Y67C |
probably damaging |
Het |
Scn5a |
T |
C |
9: 119,358,051 (GRCm39) |
N730S |
possibly damaging |
Het |
Shc2 |
C |
T |
10: 79,462,120 (GRCm39) |
C341Y |
probably benign |
Het |
Tfdp2 |
T |
A |
9: 96,179,727 (GRCm39) |
N113K |
probably damaging |
Het |
Tmc3 |
A |
G |
7: 83,234,290 (GRCm39) |
|
probably benign |
Het |
Top6bl |
A |
G |
19: 4,748,524 (GRCm39) |
|
probably benign |
Het |
Tox |
A |
T |
4: 6,990,501 (GRCm39) |
|
probably benign |
Het |
Tspoap1 |
A |
G |
11: 87,668,683 (GRCm39) |
K1319E |
probably benign |
Het |
Vit |
G |
A |
17: 78,881,641 (GRCm39) |
V135I |
probably benign |
Het |
Vwa5b1 |
T |
G |
4: 138,338,150 (GRCm39) |
S71R |
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 |
R4508:Amer3
|
UTSW |
1 |
34,627,380 (GRCm39) |
missense |
probably benign |
0.00 |
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'- AGCTGAACTACCCCTGTTCC -3'
(R):5'- AAACCCTGGCTGAGCAAGTC -3'
Sequencing Primer
(F):5'- AACTACCCCTGTTCCCTTGCAG -3'
(R):5'- TGAGCAAGTCAGGGCCTG -3'
|
Posted On |
2015-10-08 |