Incidental Mutation 'IGL01861:Arrdc5'
ID |
178322 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Arrdc5
|
Ensembl Gene |
ENSMUSG00000073380 |
Gene Name |
arrestin domain containing 5 |
Synonyms |
1700013E09Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01861
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
56601111-56607262 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56607144 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 34
(T34A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094906
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001258]
[ENSMUST00000097303]
[ENSMUST00000113035]
[ENSMUST00000113038]
[ENSMUST00000113039]
[ENSMUST00000142387]
|
AlphaFold |
Q497K5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001258
|
SMART Domains |
Protein: ENSMUSP00000001258 Gene: ENSMUSG00000001228
Domain | Start | End | E-Value | Type |
UBQ
|
1 |
74 |
9.37e-10 |
SMART |
Pfam:DUF3590
|
136 |
232 |
1.1e-42 |
PFAM |
PHD
|
322 |
369 |
6.39e-12 |
SMART |
RING
|
323 |
368 |
1.09e0 |
SMART |
low complexity region
|
381 |
398 |
N/A |
INTRINSIC |
SRA
|
419 |
590 |
8.5e-113 |
SMART |
low complexity region
|
635 |
653 |
N/A |
INTRINSIC |
RING
|
713 |
751 |
8.43e-3 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097303
AA Change: T34A
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000094906 Gene: ENSMUSG00000073380 AA Change: T34A
Domain | Start | End | E-Value | Type |
Pfam:Arrestin_N
|
7 |
144 |
3.3e-21 |
PFAM |
Arrestin_C
|
170 |
307 |
7.47e-19 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113035
|
SMART Domains |
Protein: ENSMUSP00000108658 Gene: ENSMUSG00000001228
Domain | Start | End | E-Value | Type |
UBQ
|
1 |
74 |
9.37e-10 |
SMART |
Pfam:DUF3590
|
136 |
232 |
1.1e-42 |
PFAM |
PHD
|
314 |
361 |
6.39e-12 |
SMART |
RING
|
315 |
360 |
1.09e0 |
SMART |
low complexity region
|
373 |
390 |
N/A |
INTRINSIC |
SRA
|
411 |
582 |
8.5e-113 |
SMART |
low complexity region
|
627 |
645 |
N/A |
INTRINSIC |
RING
|
705 |
743 |
8.43e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113038
|
SMART Domains |
Protein: ENSMUSP00000108661 Gene: ENSMUSG00000001228
Domain | Start | End | E-Value | Type |
UBQ
|
1 |
74 |
9.37e-10 |
SMART |
Pfam:DUF3590
|
136 |
232 |
1.1e-42 |
PFAM |
PHD
|
314 |
361 |
6.39e-12 |
SMART |
RING
|
315 |
360 |
1.09e0 |
SMART |
low complexity region
|
373 |
390 |
N/A |
INTRINSIC |
SRA
|
411 |
582 |
8.5e-113 |
SMART |
low complexity region
|
627 |
645 |
N/A |
INTRINSIC |
RING
|
705 |
743 |
8.43e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113039
|
SMART Domains |
Protein: ENSMUSP00000108662 Gene: ENSMUSG00000001228
Domain | Start | End | E-Value | Type |
UBQ
|
1 |
74 |
9.37e-10 |
SMART |
Pfam:TTD
|
128 |
281 |
8e-61 |
PFAM |
PHD
|
322 |
369 |
6.39e-12 |
SMART |
RING
|
323 |
368 |
1.09e0 |
SMART |
low complexity region
|
381 |
398 |
N/A |
INTRINSIC |
SRA
|
419 |
590 |
8.5e-113 |
SMART |
low complexity region
|
635 |
653 |
N/A |
INTRINSIC |
RING
|
713 |
751 |
8.43e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142387
|
SMART Domains |
Protein: ENSMUSP00000125830 Gene: ENSMUSG00000001228
Domain | Start | End | E-Value | Type |
UBQ
|
1 |
74 |
9.37e-10 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atm |
C |
A |
9: 53,405,912 (GRCm39) |
R1252L |
probably null |
Het |
Cd34 |
T |
C |
1: 194,640,888 (GRCm39) |
|
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,226,256 (GRCm39) |
V2944A |
probably damaging |
Het |
Cntnap3 |
C |
T |
13: 64,946,922 (GRCm39) |
G169D |
probably damaging |
Het |
Dnah7a |
T |
A |
1: 53,679,508 (GRCm39) |
T326S |
probably benign |
Het |
Dnah7a |
C |
T |
1: 53,623,608 (GRCm39) |
|
probably benign |
Het |
Fam133b |
A |
G |
5: 3,614,242 (GRCm39) |
|
probably benign |
Het |
Fhod1 |
A |
G |
8: 106,057,808 (GRCm39) |
S906P |
probably damaging |
Het |
Gli3 |
A |
G |
13: 15,899,910 (GRCm39) |
Y1099C |
probably damaging |
Het |
Gpr63 |
C |
T |
4: 25,008,545 (GRCm39) |
T423M |
probably damaging |
Het |
Hpx |
A |
T |
7: 105,241,393 (GRCm39) |
Y339* |
probably null |
Het |
Lingo2 |
A |
T |
4: 35,709,526 (GRCm39) |
D151E |
probably benign |
Het |
Mill2 |
A |
T |
7: 18,590,565 (GRCm39) |
Q215L |
probably damaging |
Het |
Naf1 |
T |
C |
8: 67,317,185 (GRCm39) |
|
probably benign |
Het |
Ndufv1 |
A |
G |
19: 4,058,803 (GRCm39) |
V235A |
probably benign |
Het |
Or8b41 |
T |
C |
9: 38,055,046 (GRCm39) |
I205T |
probably damaging |
Het |
Pafah1b1 |
A |
T |
11: 74,581,403 (GRCm39) |
N22K |
possibly damaging |
Het |
Prune1 |
G |
T |
3: 95,172,868 (GRCm39) |
R66S |
probably damaging |
Het |
Ptcd1 |
A |
T |
5: 145,095,587 (GRCm39) |
I291N |
possibly damaging |
Het |
Ptprk |
A |
G |
10: 28,259,441 (GRCm39) |
I294V |
possibly damaging |
Het |
Rfx6 |
G |
A |
10: 51,597,675 (GRCm39) |
V471M |
probably damaging |
Het |
Rnase6 |
C |
A |
14: 51,367,748 (GRCm39) |
Q47K |
probably benign |
Het |
Skint5 |
T |
C |
4: 113,417,021 (GRCm39) |
|
probably benign |
Het |
Srcap |
T |
A |
7: 127,124,457 (GRCm39) |
|
probably benign |
Het |
Stap1 |
A |
G |
5: 86,244,383 (GRCm39) |
I217V |
possibly damaging |
Het |
Taf1d |
T |
C |
9: 15,220,035 (GRCm39) |
|
probably null |
Het |
Tecta |
T |
C |
9: 42,284,658 (GRCm39) |
H809R |
probably benign |
Het |
Tex15 |
A |
G |
8: 34,060,717 (GRCm39) |
N49S |
probably damaging |
Het |
Tubb4b-ps1 |
A |
G |
5: 7,229,374 (GRCm39) |
|
probably benign |
Het |
Uhrf2 |
A |
G |
19: 30,063,804 (GRCm39) |
Y589C |
probably damaging |
Het |
Zfp616 |
A |
T |
11: 73,973,742 (GRCm39) |
T4S |
possibly damaging |
Het |
Zfp687 |
A |
T |
3: 94,919,171 (GRCm39) |
F200L |
probably damaging |
Het |
|
Other mutations in Arrdc5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00588:Arrdc5
|
APN |
17 |
56,601,262 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01830:Arrdc5
|
APN |
17 |
56,601,652 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02210:Arrdc5
|
APN |
17 |
56,607,026 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03379:Arrdc5
|
APN |
17 |
56,601,589 (GRCm39) |
nonsense |
probably null |
|
R0256:Arrdc5
|
UTSW |
17 |
56,601,382 (GRCm39) |
missense |
probably damaging |
0.99 |
R0638:Arrdc5
|
UTSW |
17 |
56,607,020 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1491:Arrdc5
|
UTSW |
17 |
56,601,222 (GRCm39) |
missense |
probably damaging |
0.99 |
R1672:Arrdc5
|
UTSW |
17 |
56,607,144 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2094:Arrdc5
|
UTSW |
17 |
56,604,856 (GRCm39) |
missense |
probably benign |
0.44 |
R4326:Arrdc5
|
UTSW |
17 |
56,601,420 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4327:Arrdc5
|
UTSW |
17 |
56,601,420 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5254:Arrdc5
|
UTSW |
17 |
56,604,897 (GRCm39) |
missense |
probably benign |
0.19 |
R5363:Arrdc5
|
UTSW |
17 |
56,607,138 (GRCm39) |
missense |
probably damaging |
0.99 |
R5610:Arrdc5
|
UTSW |
17 |
56,604,846 (GRCm39) |
missense |
probably benign |
|
R5740:Arrdc5
|
UTSW |
17 |
56,604,838 (GRCm39) |
missense |
probably benign |
0.39 |
R6054:Arrdc5
|
UTSW |
17 |
56,601,420 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7101:Arrdc5
|
UTSW |
17 |
56,601,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R7439:Arrdc5
|
UTSW |
17 |
56,604,931 (GRCm39) |
missense |
probably benign |
0.05 |
R8878:Arrdc5
|
UTSW |
17 |
56,601,342 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Arrdc5
|
UTSW |
17 |
56,607,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |