Incidental Mutation 'R1192:Arrdc1'
| ID |
100858 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arrdc1
|
| Ensembl Gene |
ENSMUSG00000026972 |
| Gene Name |
arrestin domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
039264-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1192 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
24815364-24825264 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24816152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 284
(I284V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028349]
[ENSMUST00000102935]
[ENSMUST00000133934]
[ENSMUST00000142887]
[ENSMUST00000144963]
|
| AlphaFold |
Q99KN1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028349
AA Change: I284V
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000028349
Gene: ENSMUSG00000026972
AA Change: I284V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_N
|
7 |
139 |
8.5e-19 |
PFAM |
|
Arrestin_C
|
162 |
286 |
1.19e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102935
AA Change: I283V
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000099999
Gene: ENSMUSG00000026972
AA Change: I283V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_N
|
7 |
139 |
4.1e-31 |
PFAM |
|
Arrestin_C
|
162 |
285 |
2.7e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129784
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132074
|
| SMART Domains |
Protein: ENSMUSP00000116352
Gene: ENSMUSG00000026972
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Arrestin_C
|
2 |
84 |
4e-48 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133396
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133934
|
| SMART Domains |
Protein: ENSMUSP00000117695
Gene: ENSMUSG00000026972
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_N
|
38 |
102 |
1.4e-16 |
PFAM |
|
Pfam:Arrestin_C
|
125 |
210 |
1.6e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142887
|
| SMART Domains |
Protein: ENSMUSP00000117372
Gene: ENSMUSG00000026972
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_N
|
6 |
95 |
2e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155525
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155953
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152240
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156706
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144963
|
| SMART Domains |
Protein: ENSMUSP00000114684
Gene: ENSMUSG00000026972
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Arrestin_C
|
3 |
58 |
5e-21 |
BLAST |
|
| Meta Mutation Damage Score |
0.0876 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
| Validation Efficiency |
97% (32/33) |
| MGI Phenotype |
PHENOTYPE: Homozygous null mouse embryonic fibroblasts exhibit reduced extracellular vesicle release. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahrr |
T |
A |
13: 74,362,522 (GRCm39) |
M326L |
probably benign |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,811,616 (GRCm39) |
T591A |
probably damaging |
Het |
| Anks4b |
A |
T |
7: 119,773,289 (GRCm39) |
I50L |
probably benign |
Het |
| Arhgef3 |
C |
A |
14: 27,101,663 (GRCm39) |
T133N |
probably damaging |
Het |
| Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,454,049 (GRCm39) |
D717E |
possibly damaging |
Het |
| Cdh22 |
A |
T |
2: 164,977,203 (GRCm39) |
F439I |
probably damaging |
Het |
| Creld1 |
G |
T |
6: 113,466,440 (GRCm39) |
C169F |
probably damaging |
Het |
| Ctsq |
T |
A |
13: 61,186,859 (GRCm39) |
N78I |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,898,497 (GRCm39) |
H1089Q |
probably damaging |
Het |
| Eri2 |
G |
T |
7: 119,391,540 (GRCm39) |
D41E |
probably damaging |
Het |
| Exosc9 |
C |
T |
3: 36,606,904 (GRCm39) |
|
probably benign |
Het |
| Galnt14 |
C |
T |
17: 73,852,133 (GRCm39) |
|
probably benign |
Het |
| Gen1 |
C |
T |
12: 11,305,219 (GRCm39) |
G192D |
probably damaging |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Ints14 |
T |
C |
9: 64,874,045 (GRCm39) |
V99A |
possibly damaging |
Het |
| Iqsec1 |
G |
A |
6: 90,648,958 (GRCm39) |
|
probably benign |
Het |
| Jarid2 |
G |
T |
13: 45,060,021 (GRCm39) |
R713L |
probably damaging |
Het |
| Nans |
T |
C |
4: 46,502,430 (GRCm39) |
|
probably benign |
Het |
| Nkiras2 |
T |
C |
11: 100,516,806 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
T |
11: 58,958,025 (GRCm39) |
D3558E |
probably benign |
Het |
| Or6c66 |
C |
T |
10: 129,461,906 (GRCm39) |
S8N |
probably benign |
Het |
| Palb2 |
G |
A |
7: 121,727,432 (GRCm39) |
T146M |
probably benign |
Het |
| Pcgf3 |
T |
C |
5: 108,634,054 (GRCm39) |
V104A |
probably benign |
Het |
| Polr3e |
A |
G |
7: 120,532,531 (GRCm39) |
D189G |
probably benign |
Het |
| Rfc1 |
T |
C |
5: 65,451,254 (GRCm39) |
K278R |
probably benign |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Shcbp1l |
T |
A |
1: 153,301,253 (GRCm39) |
I95N |
possibly damaging |
Het |
| Shox2 |
G |
A |
3: 66,881,243 (GRCm39) |
Q246* |
probably null |
Het |
| Slc16a4 |
G |
C |
3: 107,206,189 (GRCm39) |
E86D |
probably benign |
Het |
| Tubgcp2 |
A |
G |
7: 139,609,751 (GRCm39) |
V202A |
probably benign |
Het |
|
| Other mutations in Arrdc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02227:Arrdc1
|
APN |
2 |
24,816,164 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02510:Arrdc1
|
APN |
2 |
24,825,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03307:Arrdc1
|
APN |
2 |
24,816,354 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4378001:Arrdc1
|
UTSW |
2 |
24,816,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Arrdc1
|
UTSW |
2 |
24,815,807 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1466:Arrdc1
|
UTSW |
2 |
24,815,807 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1550:Arrdc1
|
UTSW |
2 |
24,816,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1584:Arrdc1
|
UTSW |
2 |
24,815,807 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2061:Arrdc1
|
UTSW |
2 |
24,816,364 (GRCm39) |
nonsense |
probably null |
|
|
R2157:Arrdc1
|
UTSW |
2 |
24,816,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4904:Arrdc1
|
UTSW |
2 |
24,816,676 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4946:Arrdc1
|
UTSW |
2 |
24,815,860 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5632:Arrdc1
|
UTSW |
2 |
24,817,840 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5766:Arrdc1
|
UTSW |
2 |
24,816,417 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6875:Arrdc1
|
UTSW |
2 |
24,815,677 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7860:Arrdc1
|
UTSW |
2 |
24,816,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9136:Arrdc1
|
UTSW |
2 |
24,817,193 (GRCm39) |
splice site |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTAGCAGGGCTTCCAACCTGAAC -3'
(R):5'- CAGTGGCAAGAACAGATCCTGGTG -3'
Sequencing Primer
(F):5'- CTCAGTGGTGGTGACAGACAC -3'
(R):5'- AACAGATCCTGGTGCCTGC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation