Incidental Mutation 'IGL02994:Arl13b'
ID |
407054 |
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 # |
IGL02994
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
62614048-62667403 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 62632366 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 76
(I76F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156207
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055557]
[ENSMUST00000089289]
[ENSMUST00000232561]
|
AlphaFold |
Q640N2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055557
|
SMART Domains |
Protein: ENSMUSP00000055901 Gene: ENSMUSG00000047854
Domain | Start | End | E-Value | Type |
Blast:SynN
|
51 |
161 |
4e-18 |
BLAST |
t_SNARE
|
202 |
269 |
3.21e-9 |
SMART |
low complexity region
|
277 |
289 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000089289
AA Change: I179F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000086703 Gene: ENSMUSG00000022911 AA Change: I179F
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: ENSMUST00000102469
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232561
AA Change: I76F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp3 |
T |
A |
9: 104,186,602 (GRCm39) |
|
probably benign |
Het |
Ahnak2 |
A |
G |
12: 112,749,827 (GRCm39) |
V137A |
probably damaging |
Het |
Alk |
G |
T |
17: 72,256,815 (GRCm39) |
F681L |
probably benign |
Het |
Ankrd35 |
T |
C |
3: 96,590,307 (GRCm39) |
|
probably benign |
Het |
Aqp3 |
A |
T |
4: 41,093,614 (GRCm39) |
C267S |
probably benign |
Het |
Ccn2 |
T |
A |
10: 24,472,763 (GRCm39) |
N224K |
probably damaging |
Het |
Cdc42bpa |
G |
T |
1: 179,827,002 (GRCm39) |
R85L |
probably damaging |
Het |
Dock4 |
T |
G |
12: 40,829,159 (GRCm39) |
I1015R |
probably damaging |
Het |
Dst |
A |
G |
1: 34,268,333 (GRCm39) |
|
probably benign |
Het |
Egfr |
T |
C |
11: 16,861,811 (GRCm39) |
Y1197H |
probably damaging |
Het |
Endod1 |
A |
G |
9: 14,268,183 (GRCm39) |
V434A |
possibly damaging |
Het |
Exosc9 |
A |
G |
3: 36,607,287 (GRCm39) |
|
probably benign |
Het |
Fgg |
G |
T |
3: 82,915,781 (GRCm39) |
R74L |
probably benign |
Het |
Fmo2 |
A |
T |
1: 162,708,189 (GRCm39) |
D315E |
probably damaging |
Het |
H2-M3 |
G |
A |
17: 37,581,629 (GRCm39) |
S97N |
probably benign |
Het |
Ighv14-2 |
T |
A |
12: 113,958,211 (GRCm39) |
T77S |
probably benign |
Het |
Klhl9 |
A |
T |
4: 88,639,434 (GRCm39) |
L269* |
probably null |
Het |
Lin37 |
G |
A |
7: 30,256,585 (GRCm39) |
R84W |
probably damaging |
Het |
Macroh2a1 |
T |
C |
13: 56,252,112 (GRCm39) |
|
probably benign |
Het |
Mkln1 |
T |
C |
6: 31,467,378 (GRCm39) |
S31P |
probably damaging |
Het |
Nacad |
A |
G |
11: 6,549,528 (GRCm39) |
L1221P |
possibly damaging |
Het |
Nbr1 |
A |
T |
11: 101,447,053 (GRCm39) |
N13I |
probably damaging |
Het |
Ndfip1 |
T |
C |
18: 38,585,469 (GRCm39) |
I161T |
probably damaging |
Het |
Nsg1 |
A |
G |
5: 38,312,946 (GRCm39) |
|
probably benign |
Het |
Rsbn1l |
G |
T |
5: 21,113,232 (GRCm39) |
T430K |
probably damaging |
Het |
Serpina6 |
A |
G |
12: 103,620,210 (GRCm39) |
S180P |
probably benign |
Het |
Slc4a5 |
T |
C |
6: 83,249,106 (GRCm39) |
L570P |
probably damaging |
Het |
Tank |
A |
G |
2: 61,480,636 (GRCm39) |
|
probably benign |
Het |
Tpd52 |
A |
G |
3: 9,012,590 (GRCm39) |
F76L |
probably benign |
Het |
Ubox5 |
A |
C |
2: 130,442,237 (GRCm39) |
L150R |
probably benign |
Het |
Zfp710 |
T |
C |
7: 79,731,581 (GRCm39) |
S253P |
probably benign |
Het |
|
Other mutations in Arl13b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01659:Arl13b
|
APN |
16 |
62,623,113 (GRCm39) |
missense |
possibly damaging |
0.47 |
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 |
2016-08-02 |