Incidental Mutation 'IGL03266:Actr10'
| ID |
415073 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Actr10
|
| Ensembl Gene |
ENSMUSG00000021076 |
| Gene Name |
ARP10 actin-related protein 10 |
| Synonyms |
Arp11 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
IGL03266
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
70984631-71011492 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 71003440 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 261
(S261A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021479]
[ENSMUST00000220582]
[ENSMUST00000223549]
|
| AlphaFold |
Q9QZB7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021479
AA Change: S261A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000021479
Gene: ENSMUSG00000021076
AA Change: S261A
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
13 |
394 |
3e-26 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220452
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220582
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220770
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221583
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223549
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
A |
T |
6: 88,815,916 (GRCm39) |
V185E |
probably damaging |
Het |
| Acly |
T |
C |
11: 100,374,578 (GRCm39) |
E815G |
probably damaging |
Het |
| Als2cl |
T |
C |
9: 110,719,924 (GRCm39) |
V504A |
possibly damaging |
Het |
| Btla |
T |
C |
16: 45,059,638 (GRCm39) |
I114T |
probably damaging |
Het |
| Cacna2d3 |
T |
A |
14: 29,022,705 (GRCm39) |
I348L |
probably benign |
Het |
| Chst15 |
T |
A |
7: 131,871,805 (GRCm39) |
I159F |
probably damaging |
Het |
| Creld1 |
T |
A |
6: 113,466,558 (GRCm39) |
H208Q |
probably benign |
Het |
| Fap |
C |
T |
2: 62,367,366 (GRCm39) |
V334I |
probably benign |
Het |
| Fat2 |
C |
T |
11: 55,174,855 (GRCm39) |
V1953M |
possibly damaging |
Het |
| Fgfr3 |
G |
A |
5: 33,891,709 (GRCm39) |
A595T |
probably damaging |
Het |
| Gm8122 |
T |
A |
14: 43,090,116 (GRCm39) |
M125L |
unknown |
Het |
| Itprid2 |
G |
A |
2: 79,472,534 (GRCm39) |
|
probably null |
Het |
| Klk1b1 |
T |
G |
7: 43,619,900 (GRCm39) |
L153R |
probably benign |
Het |
| Lrig3 |
T |
A |
10: 125,849,151 (GRCm39) |
M957K |
probably benign |
Het |
| Mc3r |
C |
T |
2: 172,091,189 (GRCm39) |
A137V |
probably benign |
Het |
| Met |
T |
A |
6: 17,540,537 (GRCm39) |
L821Q |
possibly damaging |
Het |
| Mrps17 |
T |
C |
5: 129,793,806 (GRCm39) |
|
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,067,150 (GRCm39) |
T202A |
probably benign |
Het |
| Nae1 |
T |
C |
8: 105,239,828 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,402,348 (GRCm39) |
I2240N |
probably damaging |
Het |
| Stat6 |
T |
C |
10: 127,493,024 (GRCm39) |
L552P |
possibly damaging |
Het |
| Trbv3 |
C |
A |
6: 41,025,658 (GRCm39) |
Q83K |
probably benign |
Het |
| Uaca |
A |
T |
9: 60,770,689 (GRCm39) |
D344V |
probably damaging |
Het |
| Ube2q2l |
T |
C |
6: 136,377,921 (GRCm39) |
E303G |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,189,129 (GRCm39) |
D1452E |
probably damaging |
Het |
| Vwf |
T |
C |
6: 125,655,040 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Actr10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02084:Actr10
|
APN |
12 |
71,001,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02232:Actr10
|
APN |
12 |
70,990,289 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02628:Actr10
|
APN |
12 |
71,001,430 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03202:Actr10
|
APN |
12 |
70,987,605 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0505:Actr10
|
UTSW |
12 |
71,006,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1734:Actr10
|
UTSW |
12 |
71,008,770 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1919:Actr10
|
UTSW |
12 |
70,989,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2151:Actr10
|
UTSW |
12 |
70,987,575 (GRCm39) |
nonsense |
probably null |
|
|
R2201:Actr10
|
UTSW |
12 |
71,006,795 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4259:Actr10
|
UTSW |
12 |
70,999,759 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4261:Actr10
|
UTSW |
12 |
70,999,759 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5138:Actr10
|
UTSW |
12 |
71,008,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5326:Actr10
|
UTSW |
12 |
71,001,430 (GRCm39) |
unclassified |
probably benign |
|
|
R5542:Actr10
|
UTSW |
12 |
71,001,430 (GRCm39) |
unclassified |
probably benign |
|
|
R6248:Actr10
|
UTSW |
12 |
70,999,733 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6882:Actr10
|
UTSW |
12 |
71,003,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7102:Actr10
|
UTSW |
12 |
70,999,805 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7758:Actr10
|
UTSW |
12 |
70,989,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7800:Actr10
|
UTSW |
12 |
70,990,283 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8766:Actr10
|
UTSW |
12 |
71,001,430 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8850:Actr10
|
UTSW |
12 |
70,989,032 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9011:Actr10
|
UTSW |
12 |
70,999,734 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9068:Actr10
|
UTSW |
12 |
70,989,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9229:Actr10
|
UTSW |
12 |
70,990,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9452:Actr10
|
UTSW |
12 |
71,006,818 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0012:Actr10
|
UTSW |
12 |
70,987,639 (GRCm39) |
missense |
probably benign |
0.04 |
|
X0027:Actr10
|
UTSW |
12 |
71,006,733 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:Actr10
|
UTSW |
12 |
71,008,803 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation