Incidental Mutation 'IGL03009:Arrdc4'
| ID |
407692 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arrdc4
|
| Ensembl Gene |
ENSMUSG00000042659 |
| Gene Name |
arrestin domain containing 4 |
| Synonyms |
2410003C09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.242)
|
| Stock # |
IGL03009
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
68386742-68398986 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 68389241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 411
(V411A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044578
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048068]
[ENSMUST00000118110]
|
| AlphaFold |
A0A0B4J1F4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048068
AA Change: V411A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044578
Gene: ENSMUSG00000042659
AA Change: V411A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_N
|
19 |
166 |
6.2e-35 |
PFAM |
|
Arrestin_C
|
188 |
315 |
8.24e-30 |
SMART |
|
low complexity region
|
336 |
348 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118110
|
| SMART Domains |
Protein: ENSMUSP00000112962
Gene: ENSMUSG00000042659
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_N
|
17 |
166 |
6.6e-35 |
PFAM |
|
Arrestin_C
|
188 |
296 |
6.46e-14 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele show a marked reduction in the amount of extracellular vesicles (EVs) released from mouse gut explants. Mutant mouse embryonic fibroblasts exhibit reduced EV release. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adsl |
C |
A |
15: 80,836,444 (GRCm39) |
S67* |
probably null |
Het |
| Cnnm2 |
A |
G |
19: 46,865,794 (GRCm39) |
Y794C |
probably damaging |
Het |
| Flt4 |
G |
T |
11: 49,517,951 (GRCm39) |
K330N |
probably benign |
Het |
| Foxs1 |
T |
C |
2: 152,774,849 (GRCm39) |
H68R |
probably damaging |
Het |
| Gm21969 |
C |
T |
4: 139,334,965 (GRCm39) |
S333L |
probably damaging |
Het |
| Gm7008 |
T |
A |
12: 40,273,546 (GRCm39) |
|
probably benign |
Het |
| Gmppa |
A |
G |
1: 75,416,014 (GRCm39) |
Y137C |
probably damaging |
Het |
| Grwd1 |
A |
G |
7: 45,476,561 (GRCm39) |
|
probably benign |
Het |
| Kdm5a |
C |
T |
6: 120,407,047 (GRCm39) |
R1421W |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,894,039 (GRCm39) |
T1749A |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,069,468 (GRCm39) |
|
probably benign |
Het |
| Ntng1 |
T |
C |
3: 109,842,018 (GRCm39) |
K252E |
possibly damaging |
Het |
| Nup133 |
A |
G |
8: 124,660,239 (GRCm39) |
I353T |
possibly damaging |
Het |
| Or51ab3 |
C |
A |
7: 103,201,734 (GRCm39) |
C247* |
probably null |
Het |
| Osbpl11 |
T |
C |
16: 33,062,100 (GRCm39) |
|
probably benign |
Het |
| Pcsk9 |
C |
T |
4: 106,311,542 (GRCm39) |
G230S |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,967,988 (GRCm39) |
N1127S |
probably damaging |
Het |
| Rasgrf1 |
A |
T |
9: 89,873,756 (GRCm39) |
K688N |
possibly damaging |
Het |
| Rhot1 |
A |
G |
11: 80,111,080 (GRCm39) |
|
probably null |
Het |
| Rims2 |
A |
T |
15: 39,430,393 (GRCm39) |
Q1159L |
possibly damaging |
Het |
| Ros1 |
T |
C |
10: 52,022,003 (GRCm39) |
I594V |
probably benign |
Het |
| Slc43a2 |
G |
A |
11: 75,463,202 (GRCm39) |
C536Y |
probably benign |
Het |
| Stip1 |
A |
T |
19: 6,998,489 (GRCm39) |
V537E |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Vav1 |
A |
T |
17: 57,603,582 (GRCm39) |
T94S |
probably benign |
Het |
| Zfr |
A |
T |
15: 12,162,321 (GRCm39) |
I824F |
probably damaging |
Het |
|
| Other mutations in Arrdc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01637:Arrdc4
|
APN |
7 |
68,394,580 (GRCm39) |
nonsense |
probably null |
|
|
IGL02164:Arrdc4
|
APN |
7 |
68,389,285 (GRCm39) |
unclassified |
probably benign |
|
|
R0454:Arrdc4
|
UTSW |
7 |
68,391,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1146:Arrdc4
|
UTSW |
7 |
68,389,756 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1146:Arrdc4
|
UTSW |
7 |
68,389,756 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1588:Arrdc4
|
UTSW |
7 |
68,391,484 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1764:Arrdc4
|
UTSW |
7 |
68,391,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1956:Arrdc4
|
UTSW |
7 |
68,391,547 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4717:Arrdc4
|
UTSW |
7 |
68,391,406 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6321:Arrdc4
|
UTSW |
7 |
68,398,793 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6784:Arrdc4
|
UTSW |
7 |
68,398,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7329:Arrdc4
|
UTSW |
7 |
68,390,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7689:Arrdc4
|
UTSW |
7 |
68,391,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7909:Arrdc4
|
UTSW |
7 |
68,394,924 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7911:Arrdc4
|
UTSW |
7 |
68,394,924 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7970:Arrdc4
|
UTSW |
7 |
68,390,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9356:Arrdc4
|
UTSW |
7 |
68,394,627 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9623:Arrdc4
|
UTSW |
7 |
68,390,741 (GRCm39) |
missense |
|
|
|
| Posted On |
2016-08-02 |
Incidental Mutation