Incidental Mutation 'IGL02566:Arl4d'
| ID |
298836 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arl4d
|
| Ensembl Gene |
ENSMUSG00000034936 |
| Gene Name |
ADP-ribosylation factor-like 4D |
| Synonyms |
Arf4l, Arl5, Arfl4, 1110036H21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02566
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
101556367-101558658 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101557980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 169
(S169G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039388]
|
| AlphaFold |
Q99PE9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039388
AA Change: S169G
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035918
Gene: ENSMUSG00000034936
AA Change: S169G
| Domain | Start | End | E-Value | Type |
|---|
|
ARF
|
1 |
191 |
2.08e-44 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADP-ribosylation factor 4D is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4D is closely similar to ARL4A and ARL4C and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in membrane-associated intracellular trafficking. Mutations in this gene have been associated with Bardet-Biedl syndrome (BBS). [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbx |
A |
T |
16: 50,043,603 (GRCm39) |
|
probably benign |
Het |
| Blm |
A |
T |
7: 80,123,944 (GRCm39) |
M959K |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cyb5d1 |
T |
C |
11: 69,284,594 (GRCm39) |
N186S |
probably benign |
Het |
| Elk3 |
A |
G |
10: 93,101,325 (GRCm39) |
L142P |
probably damaging |
Het |
| Gk5 |
G |
A |
9: 96,011,099 (GRCm39) |
D70N |
possibly damaging |
Het |
| Gpr84 |
T |
C |
15: 103,217,150 (GRCm39) |
D309G |
probably benign |
Het |
| Greb1l |
T |
C |
18: 10,503,299 (GRCm39) |
V450A |
probably damaging |
Het |
| Gucy1b1 |
A |
G |
3: 81,965,636 (GRCm39) |
F70S |
probably damaging |
Het |
| Jmjd4 |
T |
A |
11: 59,345,880 (GRCm39) |
M320K |
probably damaging |
Het |
| Map10 |
A |
G |
8: 126,398,494 (GRCm39) |
N629S |
probably benign |
Het |
| Nmd3 |
G |
T |
3: 69,647,247 (GRCm39) |
|
probably benign |
Het |
| Obscn |
G |
T |
11: 58,958,973 (GRCm39) |
T3359K |
probably damaging |
Het |
| Or2t1 |
C |
A |
14: 14,328,138 (GRCm38) |
T9K |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,389,450 (GRCm39) |
|
probably null |
Het |
| Plcb1 |
T |
C |
2: 135,314,183 (GRCm39) |
F1212L |
probably benign |
Het |
| Rabep1 |
A |
G |
11: 70,808,540 (GRCm39) |
S459G |
probably damaging |
Het |
| Septin4 |
T |
G |
11: 87,458,468 (GRCm39) |
S281A |
probably benign |
Het |
| Slc26a1 |
A |
G |
5: 108,821,665 (GRCm39) |
S75P |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Sult1d1 |
A |
T |
5: 87,712,670 (GRCm39) |
L58Q |
probably damaging |
Het |
| Tnrc18 |
A |
T |
5: 142,758,068 (GRCm39) |
|
probably benign |
Het |
| Vps35l |
C |
T |
7: 118,352,055 (GRCm39) |
A154V |
probably benign |
Het |
| Zfp442 |
T |
C |
2: 150,251,711 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Arl4d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02335:Arl4d
|
APN |
11 |
101,557,755 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1624:Arl4d
|
UTSW |
11 |
101,557,842 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1793:Arl4d
|
UTSW |
11 |
101,557,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1858:Arl4d
|
UTSW |
11 |
101,557,578 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2419:Arl4d
|
UTSW |
11 |
101,557,714 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4571:Arl4d
|
UTSW |
11 |
101,557,969 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5919:Arl4d
|
UTSW |
11 |
101,557,962 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6312:Arl4d
|
UTSW |
11 |
101,558,079 (GRCm39) |
makesense |
probably null |
|
|
R7454:Arl4d
|
UTSW |
11 |
101,557,486 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8898:Arl4d
|
UTSW |
11 |
101,557,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8927:Arl4d
|
UTSW |
11 |
101,557,892 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8928:Arl4d
|
UTSW |
11 |
101,557,892 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9116:Arl4d
|
UTSW |
11 |
101,557,620 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9571:Arl4d
|
UTSW |
11 |
101,558,032 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Posted On |
2015-04-16 |
Incidental Mutation