Incidental Mutation 'IGL03404:Arpc5l'
| ID |
421540 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arpc5l
|
| Ensembl Gene |
ENSMUSG00000026755 |
| Gene Name |
actin related protein 2/3 complex, subunit 5-like |
| Synonyms |
ARC16-2, 2010015J01Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.355)
|
| Stock # |
IGL03404
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
38895360-38905889 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38903895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 128
(L128P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108483
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039165]
[ENSMUST00000090993]
[ENSMUST00000112850]
[ENSMUST00000112862]
[ENSMUST00000184996]
|
| AlphaFold |
Q9D898 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039165
|
| SMART Domains |
Protein: ENSMUSP00000037735
Gene: ENSMUSG00000026754
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
51 |
104 |
N/A |
INTRINSIC |
|
coiled coil region
|
126 |
169 |
N/A |
INTRINSIC |
|
coiled coil region
|
190 |
555 |
N/A |
INTRINSIC |
|
coiled coil region
|
599 |
647 |
N/A |
INTRINSIC |
|
Grip
|
682 |
728 |
5.68e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090993
|
| SMART Domains |
Protein: ENSMUSP00000088516
Gene: ENSMUSG00000026755
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P16-Arc
|
8 |
153 |
4.6e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112850
|
| SMART Domains |
Protein: ENSMUSP00000108471
Gene: ENSMUSG00000026754
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
53 |
144 |
N/A |
INTRINSIC |
|
coiled coil region
|
165 |
530 |
N/A |
INTRINSIC |
|
coiled coil region
|
574 |
622 |
N/A |
INTRINSIC |
|
Grip
|
657 |
703 |
5.68e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112862
AA Change: L128P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108483
Gene: ENSMUSG00000026755
AA Change: L128P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P16-Arc
|
9 |
153 |
2.4e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124463
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135049
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141467
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149842
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154210
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204127
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153914
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204825
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184996
|
| SMART Domains |
Protein: ENSMUSP00000139001
Gene: ENSMUSG00000026754
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
51 |
104 |
N/A |
INTRINSIC |
|
coiled coil region
|
126 |
169 |
N/A |
INTRINSIC |
|
coiled coil region
|
190 |
555 |
N/A |
INTRINSIC |
|
coiled coil region
|
599 |
647 |
N/A |
INTRINSIC |
|
Grip
|
682 |
728 |
5.68e-18 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8 |
T |
G |
17: 32,531,250 (GRCm39) |
|
probably benign |
Het |
| Ap3d1 |
A |
G |
10: 80,565,871 (GRCm39) |
S99P |
probably damaging |
Het |
| Arhgef1 |
T |
A |
7: 24,616,268 (GRCm39) |
M304K |
probably benign |
Het |
| Chl1 |
A |
T |
6: 103,670,052 (GRCm39) |
I497F |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,538,200 (GRCm39) |
G616E |
probably damaging |
Het |
| Filip1 |
T |
C |
9: 79,725,841 (GRCm39) |
E926G |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,876,440 (GRCm39) |
H2391L |
probably damaging |
Het |
| Fry |
A |
T |
5: 150,249,633 (GRCm39) |
D148V |
probably damaging |
Het |
| Glg1 |
A |
T |
8: 111,886,534 (GRCm39) |
M1086K |
probably damaging |
Het |
| Gm12185 |
T |
A |
11: 48,798,864 (GRCm39) |
Y543F |
probably damaging |
Het |
| Gtf3a |
T |
C |
5: 146,887,449 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
T |
8: 111,296,409 (GRCm39) |
Y3646F |
probably benign |
Het |
| Itpr3 |
A |
G |
17: 27,310,492 (GRCm39) |
D425G |
probably damaging |
Het |
| Lipo3 |
A |
C |
19: 33,560,440 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
A |
C |
17: 75,532,301 (GRCm39) |
K443T |
probably damaging |
Het |
| Mylk3 |
A |
G |
8: 86,069,310 (GRCm39) |
I497T |
probably damaging |
Het |
| Nlrp5 |
A |
G |
7: 23,129,459 (GRCm39) |
D842G |
probably benign |
Het |
| Or10j3 |
T |
C |
1: 173,031,766 (GRCm39) |
V281A |
probably benign |
Het |
| Or52s6 |
A |
T |
7: 103,092,195 (GRCm39) |
V45E |
possibly damaging |
Het |
| Or6n1 |
A |
G |
1: 173,917,464 (GRCm39) |
N286S |
probably damaging |
Het |
| Or8k3b |
A |
G |
2: 86,520,372 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
A |
T |
17: 24,783,380 (GRCm39) |
I120L |
probably damaging |
Het |
| Ptprc |
T |
C |
1: 138,020,739 (GRCm39) |
N401S |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,305,436 (GRCm39) |
H923R |
possibly damaging |
Het |
| Rrp8 |
T |
C |
7: 105,384,145 (GRCm39) |
K119R |
probably benign |
Het |
| Setd7 |
A |
T |
3: 51,440,407 (GRCm39) |
Y211* |
probably null |
Het |
| Sfxn5 |
G |
A |
6: 85,276,518 (GRCm39) |
|
probably benign |
Het |
| Sun5 |
T |
C |
2: 153,712,924 (GRCm39) |
|
probably benign |
Het |
| Tnks |
A |
T |
8: 35,407,858 (GRCm39) |
V290D |
probably damaging |
Het |
| Trrap |
C |
T |
5: 144,769,996 (GRCm39) |
P2740L |
probably benign |
Het |
| Ttc23 |
G |
T |
7: 67,328,645 (GRCm39) |
L195F |
probably damaging |
Het |
| Tubb1 |
G |
T |
2: 174,299,241 (GRCm39) |
G308C |
probably damaging |
Het |
| Vmn1r217 |
A |
T |
13: 23,298,810 (GRCm39) |
F31I |
probably benign |
Het |
| Zp1 |
A |
T |
19: 10,891,825 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Arpc5l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01995:Arpc5l
|
APN |
2 |
38,898,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03011:Arpc5l
|
APN |
2 |
38,903,730 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03099:Arpc5l
|
APN |
2 |
38,903,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1621:Arpc5l
|
UTSW |
2 |
38,903,913 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5400:Arpc5l
|
UTSW |
2 |
38,903,747 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5467:Arpc5l
|
UTSW |
2 |
38,903,751 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9387:Arpc5l
|
UTSW |
2 |
38,903,195 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9564:Arpc5l
|
UTSW |
2 |
38,905,124 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Posted On |
2016-08-02 |
Incidental Mutation