Incidental Mutation 'IGL01659:Arl13b'
| ID |
103112 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arl13b
|
| Ensembl Gene |
ENSMUSG00000022911 |
| Gene Name |
ADP-ribosylation factor-like 13B |
| Synonyms |
C530009C10Rik, hnn, A530097K21Rik, A930014M17Rik, Arl2l1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01659
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
62614048-62667403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62623113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 370
(S370G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089289]
|
| AlphaFold |
Q640N2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089289
AA Change: S370G
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000086703
Gene: ENSMUSG00000022911
AA Change: S370G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
8 |
190 |
8.2e-43 |
PFAM |
|
Pfam:SRPRB
|
19 |
157 |
7.1e-8 |
PFAM |
|
Pfam:Roc
|
23 |
134 |
5.4e-9 |
PFAM |
|
Pfam:Ras
|
23 |
183 |
3.1e-10 |
PFAM |
|
low complexity region
|
207 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
281 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
344 |
349 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
388 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141665
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for an ENU-induced mutation die at E13-E14 exhibiting left-right randomization and absence of the floor plate in the caudal spinal cord. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,360,790 (GRCm39) |
|
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,622,110 (GRCm39) |
S581P |
probably damaging |
Het |
| Cdr2 |
G |
T |
7: 120,557,772 (GRCm39) |
A251E |
probably damaging |
Het |
| Clec4a4 |
A |
T |
6: 123,000,894 (GRCm39) |
E202D |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,309,568 (GRCm39) |
|
probably benign |
Het |
| Dhfr |
A |
T |
13: 92,492,178 (GRCm39) |
|
probably null |
Het |
| Flnc |
A |
G |
6: 29,448,670 (GRCm39) |
T1303A |
probably damaging |
Het |
| Mug1 |
A |
T |
6: 121,847,619 (GRCm39) |
|
probably benign |
Het |
| Napepld |
A |
G |
5: 21,880,714 (GRCm39) |
V227A |
probably damaging |
Het |
| Nf1 |
A |
G |
11: 79,450,275 (GRCm39) |
E487G |
probably benign |
Het |
| Nlrp2 |
A |
G |
7: 5,331,034 (GRCm39) |
L454P |
probably damaging |
Het |
| Or8k18 |
A |
T |
2: 86,085,529 (GRCm39) |
C169* |
probably null |
Het |
| Rad51 |
T |
A |
2: 118,949,183 (GRCm39) |
I61K |
probably benign |
Het |
| Rfx8 |
A |
T |
1: 39,709,733 (GRCm39) |
H431Q |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,451,377 (GRCm39) |
N2725S |
probably damaging |
Het |
| Trim16 |
A |
G |
11: 62,711,521 (GRCm39) |
E64G |
probably benign |
Het |
| Zfp879 |
T |
C |
11: 50,729,281 (GRCm39) |
Y39C |
probably damaging |
Het |
|
| Other mutations in Arl13b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02994:Arl13b
|
APN |
16 |
62,632,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0499:Arl13b
|
UTSW |
16 |
62,622,096 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1484:Arl13b
|
UTSW |
16 |
62,626,999 (GRCm39) |
missense |
probably benign |
|
|
R1618:Arl13b
|
UTSW |
16 |
62,633,640 (GRCm39) |
splice site |
probably null |
|
|
R1637:Arl13b
|
UTSW |
16 |
62,651,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1656:Arl13b
|
UTSW |
16 |
62,627,007 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4526:Arl13b
|
UTSW |
16 |
62,632,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4927:Arl13b
|
UTSW |
16 |
62,622,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7127:Arl13b
|
UTSW |
16 |
62,622,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7883:Arl13b
|
UTSW |
16 |
62,647,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8054:Arl13b
|
UTSW |
16 |
62,626,960 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9272:Arl13b
|
UTSW |
16 |
62,647,774 (GRCm39) |
missense |
probably benign |
|
|
R9405:Arl13b
|
UTSW |
16 |
62,632,260 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2014-01-21 |
Incidental Mutation