Incidental Mutation 'IGL01609:Actr5'
| ID |
91925 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Actr5
|
| Ensembl Gene |
ENSMUSG00000037761 |
| Gene Name |
ARP5 actin-related protein 5 |
| Synonyms |
B430109J19Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01609
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
158466808-158481131 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 158478722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045644]
[ENSMUST00000183731]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045644
|
| SMART Domains |
Protein: ENSMUSP00000046658
Gene: ENSMUSG00000037761
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
30 |
571 |
1.15e-36 |
SMART |
|
low complexity region
|
593 |
605 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142531
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183586
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183731
|
| SMART Domains |
Protein: ENSMUSP00000139110
Gene: ENSMUSG00000037761
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
30 |
399 |
3.1e-8 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
A |
G |
18: 61,955,092 (GRCm39) |
V299A |
probably benign |
Het |
| Arhgap18 |
A |
G |
10: 26,756,744 (GRCm39) |
D448G |
possibly damaging |
Het |
| Bcl9 |
T |
C |
3: 97,116,291 (GRCm39) |
E801G |
probably benign |
Het |
| Bin1 |
A |
G |
18: 32,552,978 (GRCm39) |
N232S |
probably damaging |
Het |
| Brf1 |
A |
C |
12: 112,927,211 (GRCm39) |
Y459D |
probably damaging |
Het |
| Clca4a |
T |
A |
3: 144,659,541 (GRCm39) |
I772F |
probably damaging |
Het |
| Cyp2a4 |
G |
A |
7: 26,008,088 (GRCm39) |
|
probably null |
Het |
| Dync1i2 |
T |
A |
2: 71,077,352 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
T |
A |
8: 81,339,333 (GRCm39) |
M542K |
probably benign |
Het |
| Gpbp1 |
T |
C |
13: 111,575,736 (GRCm39) |
T256A |
possibly damaging |
Het |
| Ighm |
T |
C |
12: 113,384,854 (GRCm39) |
|
probably benign |
Het |
| Igkv3-12 |
A |
G |
6: 70,495,232 (GRCm39) |
|
probably benign |
Het |
| Kdm4d |
A |
G |
9: 14,375,714 (GRCm39) |
V48A |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,220,417 (GRCm39) |
S483G |
probably benign |
Het |
| Lbp |
A |
C |
2: 158,170,332 (GRCm39) |
Q464P |
probably damaging |
Het |
| Lipo4 |
T |
C |
19: 33,476,654 (GRCm39) |
T365A |
probably benign |
Het |
| Mark3 |
T |
C |
12: 111,593,956 (GRCm39) |
F274S |
probably damaging |
Het |
| Mcm3 |
A |
T |
1: 20,884,904 (GRCm39) |
|
probably benign |
Het |
| Mrpl9 |
T |
A |
3: 94,352,001 (GRCm39) |
F137I |
probably damaging |
Het |
| Msh4 |
G |
T |
3: 153,603,034 (GRCm39) |
A93E |
probably damaging |
Het |
| Mthfd1l |
T |
A |
10: 3,968,567 (GRCm39) |
D407E |
probably benign |
Het |
| Or10j7 |
G |
A |
1: 173,011,843 (GRCm39) |
H53Y |
probably benign |
Het |
| Or12d12 |
C |
T |
17: 37,610,629 (GRCm39) |
R228H |
probably benign |
Het |
| Or1i2 |
A |
C |
10: 78,447,960 (GRCm39) |
S172A |
probably benign |
Het |
| Pcsk2 |
G |
T |
2: 143,643,078 (GRCm39) |
V452L |
possibly damaging |
Het |
| Pcsk6 |
G |
A |
7: 65,685,021 (GRCm39) |
|
probably null |
Het |
| Pmfbp1 |
A |
G |
8: 110,254,348 (GRCm39) |
E461G |
probably benign |
Het |
| Pole2 |
A |
G |
12: 69,254,631 (GRCm39) |
|
probably null |
Het |
| Postn |
T |
C |
3: 54,276,649 (GRCm39) |
M176T |
probably damaging |
Het |
| Prss12 |
T |
A |
3: 123,276,483 (GRCm39) |
C371S |
probably damaging |
Het |
| Rnf11 |
T |
A |
4: 109,314,173 (GRCm39) |
Q72L |
possibly damaging |
Het |
| Rrad |
A |
G |
8: 105,356,456 (GRCm39) |
|
probably null |
Het |
| Slitrk3 |
T |
A |
3: 72,957,570 (GRCm39) |
I401F |
probably damaging |
Het |
| Themis |
A |
G |
10: 28,544,749 (GRCm39) |
|
probably benign |
Het |
| Tmem45a |
A |
G |
16: 56,631,928 (GRCm39) |
I230T |
probably benign |
Het |
| Tnni1 |
C |
A |
1: 135,733,234 (GRCm39) |
|
probably null |
Het |
| Trpa1 |
A |
T |
1: 14,982,607 (GRCm39) |
I83N |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,221,555 (GRCm39) |
Y54C |
probably damaging |
Het |
| Umodl1 |
C |
T |
17: 31,217,800 (GRCm39) |
T1202I |
possibly damaging |
Het |
| Unc93a2 |
A |
G |
17: 7,637,138 (GRCm39) |
V130A |
probably damaging |
Het |
| Usp37 |
G |
A |
1: 74,514,199 (GRCm39) |
A324V |
probably benign |
Het |
| Zfp808 |
T |
A |
13: 62,321,023 (GRCm39) |
C751S |
probably damaging |
Het |
|
| Other mutations in Actr5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02622:Actr5
|
APN |
2 |
158,480,728 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02707:Actr5
|
APN |
2 |
158,478,617 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0610:Actr5
|
UTSW |
2 |
158,474,376 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1467:Actr5
|
UTSW |
2 |
158,480,617 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1467:Actr5
|
UTSW |
2 |
158,480,617 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1720:Actr5
|
UTSW |
2 |
158,478,057 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1869:Actr5
|
UTSW |
2 |
158,480,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1937:Actr5
|
UTSW |
2 |
158,477,949 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2051:Actr5
|
UTSW |
2 |
158,474,213 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2389:Actr5
|
UTSW |
2 |
158,467,132 (GRCm39) |
missense |
probably benign |
|
|
R2420:Actr5
|
UTSW |
2 |
158,478,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2422:Actr5
|
UTSW |
2 |
158,478,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2909:Actr5
|
UTSW |
2 |
158,467,140 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4089:Actr5
|
UTSW |
2 |
158,467,022 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4719:Actr5
|
UTSW |
2 |
158,468,433 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4737:Actr5
|
UTSW |
2 |
158,469,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4820:Actr5
|
UTSW |
2 |
158,467,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5010:Actr5
|
UTSW |
2 |
158,477,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5341:Actr5
|
UTSW |
2 |
158,467,144 (GRCm39) |
nonsense |
probably null |
|
|
R5457:Actr5
|
UTSW |
2 |
158,477,918 (GRCm39) |
splice site |
probably null |
|
|
R6328:Actr5
|
UTSW |
2 |
158,477,264 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7158:Actr5
|
UTSW |
2 |
158,468,334 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8526:Actr5
|
UTSW |
2 |
158,474,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8789:Actr5
|
UTSW |
2 |
158,478,604 (GRCm39) |
nonsense |
probably null |
|
|
R9000:Actr5
|
UTSW |
2 |
158,478,610 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9030:Actr5
|
UTSW |
2 |
158,474,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9222:Actr5
|
UTSW |
2 |
158,473,423 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9316:Actr5
|
UTSW |
2 |
158,477,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9563:Actr5
|
UTSW |
2 |
158,470,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:Actr5
|
UTSW |
2 |
158,470,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9565:Actr5
|
UTSW |
2 |
158,470,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9588:Actr5
|
UTSW |
2 |
158,468,328 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Actr5
|
UTSW |
2 |
158,478,625 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2013-12-09 |
Incidental Mutation