Incidental Mutation 'R2423:Amer2'
ID |
249453 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Amer2
|
Ensembl Gene |
ENSMUSG00000021986 |
Gene Name |
APC membrane recruitment 2 |
Synonyms |
Fam123a, Amer2, 2600011E07Rik |
MMRRC Submission |
040385-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R2423 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
60615141-60625642 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 60616656 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 284
(S284P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022561
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022561]
[ENSMUST00000224957]
[ENSMUST00000225247]
|
AlphaFold |
Q8CCJ4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022561
AA Change: S284P
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000022561 Gene: ENSMUSG00000021986 AA Change: S284P
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
Pfam:WTX
|
57 |
554 |
5.2e-199 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224957
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225247
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap5z1 |
T |
C |
5: 142,462,532 (GRCm39) |
V614A |
probably benign |
Het |
Arhgap9 |
A |
T |
10: 127,162,993 (GRCm39) |
|
probably null |
Het |
Brf1 |
G |
A |
12: 112,963,819 (GRCm39) |
A53V |
probably benign |
Het |
Cyp1a2 |
C |
T |
9: 57,587,232 (GRCm39) |
R353Q |
probably damaging |
Het |
Deup1 |
G |
T |
9: 15,503,754 (GRCm39) |
S269* |
probably null |
Het |
F11r |
T |
A |
1: 171,289,191 (GRCm39) |
Y218N |
possibly damaging |
Het |
Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
Mapkbp1 |
A |
T |
2: 119,855,071 (GRCm39) |
E1430V |
probably benign |
Het |
Mga |
A |
G |
2: 119,795,274 (GRCm39) |
K2986R |
probably damaging |
Het |
Myo9b |
G |
T |
8: 71,780,584 (GRCm39) |
V494L |
probably damaging |
Het |
Nbea |
G |
A |
3: 55,992,727 (GRCm39) |
T293I |
probably damaging |
Het |
Neto2 |
C |
T |
8: 86,396,396 (GRCm39) |
R83Q |
probably damaging |
Het |
Ocm |
A |
T |
5: 143,961,388 (GRCm39) |
|
probably null |
Het |
Or52z14 |
C |
T |
7: 103,253,241 (GRCm39) |
R127C |
probably benign |
Het |
Pcdha11 |
T |
C |
18: 37,140,477 (GRCm39) |
I702T |
possibly damaging |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Rbbp8nl |
A |
T |
2: 179,922,764 (GRCm39) |
S210T |
probably damaging |
Het |
Rbl2 |
A |
T |
8: 91,813,774 (GRCm39) |
I340F |
probably benign |
Het |
Rft1 |
T |
C |
14: 30,388,724 (GRCm39) |
L216P |
possibly damaging |
Het |
Slc26a10 |
T |
A |
10: 127,015,606 (GRCm39) |
|
probably null |
Het |
Slc34a1 |
G |
A |
13: 55,556,865 (GRCm39) |
A235T |
possibly damaging |
Het |
Spag17 |
A |
G |
3: 100,010,772 (GRCm39) |
T2089A |
probably benign |
Het |
Srek1 |
G |
C |
13: 103,889,536 (GRCm39) |
S260* |
probably null |
Het |
Sspo |
T |
C |
6: 48,430,989 (GRCm39) |
V624A |
probably benign |
Het |
Tapt1 |
T |
C |
5: 44,349,795 (GRCm39) |
I251V |
probably benign |
Het |
Tmem248 |
T |
C |
5: 130,258,403 (GRCm39) |
I32T |
probably damaging |
Het |
Tnk1 |
T |
G |
11: 69,746,587 (GRCm39) |
T209P |
probably damaging |
Het |
Trip12 |
TATACATACATACATACATACATACATACATAC |
TATACATACATACATACATACATACATACATACATAC |
1: 84,792,511 (GRCm39) |
|
probably null |
Het |
Trp53tg5 |
T |
A |
2: 164,313,250 (GRCm39) |
R142* |
probably null |
Het |
Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
Vldlr |
C |
T |
19: 27,213,688 (GRCm39) |
T125I |
possibly damaging |
Het |
Vps8 |
A |
G |
16: 21,378,087 (GRCm39) |
T1033A |
probably benign |
Het |
Wiz |
A |
C |
17: 32,580,859 (GRCm39) |
H197Q |
probably damaging |
Het |
|
Other mutations in Amer2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01844:Amer2
|
APN |
14 |
60,617,356 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL03306:Amer2
|
APN |
14 |
60,616,001 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03382:Amer2
|
APN |
14 |
60,617,331 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0365:Amer2
|
UTSW |
14 |
60,616,984 (GRCm39) |
missense |
probably damaging |
0.99 |
R0433:Amer2
|
UTSW |
14 |
60,616,032 (GRCm39) |
missense |
probably damaging |
0.99 |
R1696:Amer2
|
UTSW |
14 |
60,617,123 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1754:Amer2
|
UTSW |
14 |
60,617,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R1991:Amer2
|
UTSW |
14 |
60,617,269 (GRCm39) |
missense |
probably damaging |
0.96 |
R2018:Amer2
|
UTSW |
14 |
60,615,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R3160:Amer2
|
UTSW |
14 |
60,616,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R3161:Amer2
|
UTSW |
14 |
60,616,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R3162:Amer2
|
UTSW |
14 |
60,616,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R4928:Amer2
|
UTSW |
14 |
60,616,894 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4981:Amer2
|
UTSW |
14 |
60,617,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R5212:Amer2
|
UTSW |
14 |
60,617,269 (GRCm39) |
missense |
probably damaging |
0.96 |
R5535:Amer2
|
UTSW |
14 |
60,616,302 (GRCm39) |
small deletion |
probably benign |
|
R5685:Amer2
|
UTSW |
14 |
60,617,026 (GRCm39) |
nonsense |
probably null |
|
R6002:Amer2
|
UTSW |
14 |
60,616,231 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6247:Amer2
|
UTSW |
14 |
60,616,321 (GRCm39) |
missense |
probably damaging |
0.96 |
R6408:Amer2
|
UTSW |
14 |
60,617,674 (GRCm39) |
missense |
probably damaging |
0.96 |
R7271:Amer2
|
UTSW |
14 |
60,617,123 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7407:Amer2
|
UTSW |
14 |
60,616,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R8116:Amer2
|
UTSW |
14 |
60,616,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R8122:Amer2
|
UTSW |
14 |
60,616,791 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8758:Amer2
|
UTSW |
14 |
60,616,326 (GRCm39) |
missense |
probably damaging |
0.99 |
R9005:Amer2
|
UTSW |
14 |
60,617,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R9006:Amer2
|
UTSW |
14 |
60,617,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R9007:Amer2
|
UTSW |
14 |
60,617,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R9016:Amer2
|
UTSW |
14 |
60,617,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGGGATCTTCAGCAGCATG -3'
(R):5'- GTCAAAGCTTTTCAGTGAAGTCAC -3'
Sequencing Primer
(F):5'- AGCCTGGAGTGCGTCAAG -3'
(R):5'- GTGAAGTCACGTCAGAAAACATC -3'
|
Posted On |
2014-11-12 |