Incidental Mutation 'IGL01449:Actr8'
| ID |
84581 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Actr8
|
| Ensembl Gene |
ENSMUSG00000015971 |
| Gene Name |
ARP8 actin-related protein 8 |
| Synonyms |
ARP8, 5730542K05Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01449
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
29700294-29717409 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 29712927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016115]
[ENSMUST00000016115]
[ENSMUST00000224797]
[ENSMUST00000224797]
[ENSMUST00000225811]
|
| AlphaFold |
Q8R2S9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000016115
|
| SMART Domains |
Protein: ENSMUSP00000016115
Gene: ENSMUSG00000015971
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
27 |
N/A |
INTRINSIC |
|
ACTIN
|
46 |
621 |
3.34e-11 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000016115
|
| SMART Domains |
Protein: ENSMUSP00000016115
Gene: ENSMUSG00000015971
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
27 |
N/A |
INTRINSIC |
|
ACTIN
|
46 |
621 |
3.34e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198991
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224067
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224797
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224797
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225161
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225368
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225811
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
T |
8: 73,198,693 (GRCm39) |
L33F |
probably benign |
Het |
| Aldh16a1 |
C |
A |
7: 44,791,391 (GRCm39) |
A105S |
probably damaging |
Het |
| Angpt2 |
T |
C |
8: 18,760,641 (GRCm39) |
T154A |
probably benign |
Het |
| BC051665 |
A |
G |
13: 60,930,518 (GRCm39) |
V278A |
probably damaging |
Het |
| Cap1 |
T |
C |
4: 122,753,980 (GRCm39) |
T458A |
probably damaging |
Het |
| Clcn3 |
A |
T |
8: 61,387,632 (GRCm39) |
S179T |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,632,978 (GRCm39) |
D408G |
probably benign |
Het |
| Fam217b |
T |
A |
2: 178,062,943 (GRCm39) |
S302R |
probably damaging |
Het |
| Fcho2 |
A |
T |
13: 98,926,315 (GRCm39) |
D89E |
probably benign |
Het |
| Fnip1 |
C |
T |
11: 54,390,334 (GRCm39) |
R434C |
probably damaging |
Het |
| Gga3 |
G |
A |
11: 115,479,928 (GRCm39) |
T261M |
probably damaging |
Het |
| Gm21985 |
T |
C |
2: 112,169,741 (GRCm39) |
F292L |
probably damaging |
Het |
| Gm43638 |
A |
T |
5: 87,634,074 (GRCm39) |
S178T |
possibly damaging |
Het |
| Igkv10-95 |
G |
A |
6: 68,657,748 (GRCm39) |
G68E |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,469,857 (GRCm39) |
V1442D |
probably damaging |
Het |
| Lpcat2 |
G |
A |
8: 93,597,775 (GRCm39) |
R180Q |
possibly damaging |
Het |
| Muc6 |
C |
T |
7: 141,218,527 (GRCm39) |
A1984T |
possibly damaging |
Het |
| Npy4r |
T |
A |
14: 33,868,322 (GRCm39) |
Y322F |
probably damaging |
Het |
| Nwd2 |
T |
A |
5: 63,962,937 (GRCm39) |
H840Q |
probably damaging |
Het |
| Or7g26 |
G |
A |
9: 19,230,529 (GRCm39) |
G233D |
probably damaging |
Het |
| Osbpl2 |
G |
T |
2: 179,786,987 (GRCm39) |
|
probably benign |
Het |
| Pclo |
T |
A |
5: 14,728,530 (GRCm39) |
|
probably benign |
Het |
| Pold4 |
T |
C |
19: 4,282,921 (GRCm39) |
|
probably benign |
Het |
| Ppp1r16a |
A |
G |
15: 76,578,494 (GRCm39) |
|
probably benign |
Het |
| Pprc1 |
C |
T |
19: 46,053,671 (GRCm39) |
|
probably benign |
Het |
| Prkcg |
A |
G |
7: 3,368,135 (GRCm39) |
D343G |
probably benign |
Het |
| Scaf11 |
A |
C |
15: 96,317,007 (GRCm39) |
S852R |
probably benign |
Het |
| Slc31a2 |
C |
T |
4: 62,210,933 (GRCm39) |
T22I |
probably damaging |
Het |
| Sox30 |
T |
A |
11: 45,872,169 (GRCm39) |
D341E |
probably damaging |
Het |
| Tle4 |
A |
G |
19: 14,442,704 (GRCm39) |
S339P |
probably benign |
Het |
| Tsg101 |
A |
T |
7: 46,558,673 (GRCm39) |
Y78N |
probably damaging |
Het |
| Ttc1 |
T |
A |
11: 43,629,630 (GRCm39) |
S179C |
probably damaging |
Het |
| Txnrd3 |
T |
A |
6: 89,631,129 (GRCm39) |
S142T |
probably benign |
Het |
| Ubr4 |
C |
A |
4: 139,140,047 (GRCm39) |
A1210E |
probably damaging |
Het |
| Uroc1 |
C |
A |
6: 90,315,635 (GRCm39) |
P172Q |
probably damaging |
Het |
| Usp12 |
T |
C |
5: 146,691,250 (GRCm39) |
D168G |
probably benign |
Het |
| Vmn1r32 |
T |
A |
6: 66,529,916 (GRCm39) |
M287L |
probably benign |
Het |
| Vwa8 |
C |
T |
14: 79,420,428 (GRCm39) |
Q1710* |
probably null |
Het |
| Wdfy4 |
T |
A |
14: 32,825,994 (GRCm39) |
Q1219L |
probably damaging |
Het |
| Zbtb17 |
A |
G |
4: 141,190,616 (GRCm39) |
T145A |
probably benign |
Het |
| Zfp697 |
T |
C |
3: 98,334,846 (GRCm39) |
C204R |
probably damaging |
Het |
|
| Other mutations in Actr8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01089:Actr8
|
APN |
14 |
29,710,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01577:Actr8
|
APN |
14 |
29,709,232 (GRCm39) |
missense |
probably benign |
|
|
IGL02118:Actr8
|
APN |
14 |
29,704,728 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02647:Actr8
|
APN |
14 |
29,712,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02659:Actr8
|
APN |
14 |
29,708,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02696:Actr8
|
APN |
14 |
29,704,628 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03015:Actr8
|
APN |
14 |
29,708,273 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03335:Actr8
|
APN |
14 |
29,700,514 (GRCm39) |
missense |
probably benign |
|
|
R0512:Actr8
|
UTSW |
14 |
29,700,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0735:Actr8
|
UTSW |
14 |
29,711,669 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0926:Actr8
|
UTSW |
14 |
29,709,181 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1443:Actr8
|
UTSW |
14 |
29,706,056 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1470:Actr8
|
UTSW |
14 |
29,708,926 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1470:Actr8
|
UTSW |
14 |
29,708,926 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1616:Actr8
|
UTSW |
14 |
29,704,601 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2097:Actr8
|
UTSW |
14 |
29,709,185 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2240:Actr8
|
UTSW |
14 |
29,711,714 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2570:Actr8
|
UTSW |
14 |
29,709,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5122:Actr8
|
UTSW |
14 |
29,704,672 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5439:Actr8
|
UTSW |
14 |
29,708,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5697:Actr8
|
UTSW |
14 |
29,713,630 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5727:Actr8
|
UTSW |
14 |
29,712,838 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5860:Actr8
|
UTSW |
14 |
29,708,242 (GRCm39) |
nonsense |
probably null |
|
|
R5988:Actr8
|
UTSW |
14 |
29,715,030 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6006:Actr8
|
UTSW |
14 |
29,706,099 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6009:Actr8
|
UTSW |
14 |
29,700,454 (GRCm39) |
unclassified |
probably benign |
|
|
R6155:Actr8
|
UTSW |
14 |
29,700,546 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6190:Actr8
|
UTSW |
14 |
29,713,674 (GRCm39) |
nonsense |
probably null |
|
|
R6329:Actr8
|
UTSW |
14 |
29,715,041 (GRCm39) |
nonsense |
probably null |
|
|
R6483:Actr8
|
UTSW |
14 |
29,700,538 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6517:Actr8
|
UTSW |
14 |
29,704,673 (GRCm39) |
nonsense |
probably null |
|
|
R6562:Actr8
|
UTSW |
14 |
29,708,411 (GRCm39) |
splice site |
probably null |
|
|
R7484:Actr8
|
UTSW |
14 |
29,714,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8190:Actr8
|
UTSW |
14 |
29,706,030 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8236:Actr8
|
UTSW |
14 |
29,704,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8516:Actr8
|
UTSW |
14 |
29,712,856 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9484:Actr8
|
UTSW |
14 |
29,708,301 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1177:Actr8
|
UTSW |
14 |
29,709,199 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Actr8
|
UTSW |
14 |
29,708,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-11 |
Incidental Mutation