Incidental Mutation 'IGL00586:Arl5b'
ID |
9050 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Arl5b
|
Ensembl Gene |
ENSMUSG00000017418 |
Gene Name |
ADP-ribosylation factor-like 5B |
Synonyms |
Arl8, 4930587A11Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
IGL00586
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
15060066-15087267 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 15074746 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 76
(S76P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069725
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017562]
[ENSMUST00000069870]
[ENSMUST00000128682]
[ENSMUST00000193836]
|
AlphaFold |
Q9D4P0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017562
AA Change: S67P
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000017562 Gene: ENSMUSG00000017418 AA Change: S67P
Domain | Start | End | E-Value | Type |
ARF
|
4 |
171 |
4.8e-58 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000069870
AA Change: S76P
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000069725 Gene: ENSMUSG00000017418 AA Change: S76P
Domain | Start | End | E-Value | Type |
ARF
|
2 |
180 |
3.95e-68 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128682
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129509
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192653
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193836
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ARL5B (ARL8) belongs to a family of proteins that are structurally similar to ADP-ribosylation factors (ARFs; see MIM 103180). ARLs and ARFs are part of the RAS superfamily of regulatory GTPases.[supplied by OMIM, Nov 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asap3 |
A |
C |
4: 135,933,879 (GRCm39) |
D17A |
probably damaging |
Het |
Ccdc24 |
C |
T |
4: 117,729,243 (GRCm39) |
R78H |
probably damaging |
Het |
Crp |
T |
C |
1: 172,526,568 (GRCm39) |
F218L |
probably benign |
Het |
Dab2 |
T |
C |
15: 6,459,306 (GRCm39) |
L385P |
probably benign |
Het |
Dip2c |
C |
A |
13: 9,660,791 (GRCm39) |
T855N |
probably damaging |
Het |
Dnai7 |
A |
T |
6: 145,137,302 (GRCm39) |
F269I |
possibly damaging |
Het |
Dync2i1 |
A |
T |
12: 116,205,400 (GRCm39) |
D396E |
probably benign |
Het |
Ep400 |
A |
G |
5: 110,887,460 (GRCm39) |
V541A |
probably damaging |
Het |
Gbgt1 |
A |
T |
2: 28,392,207 (GRCm39) |
|
probably null |
Het |
Gm6871 |
A |
T |
7: 41,195,845 (GRCm39) |
D297E |
possibly damaging |
Het |
Gpr107 |
T |
A |
2: 31,062,006 (GRCm39) |
F145I |
probably benign |
Het |
Itgb6 |
T |
G |
2: 60,450,696 (GRCm39) |
D581A |
probably benign |
Het |
Lce1a1 |
C |
T |
3: 92,554,470 (GRCm39) |
M1I |
probably null |
Het |
Lmbrd2 |
G |
A |
15: 9,157,382 (GRCm39) |
V207M |
probably damaging |
Het |
Muc5b |
T |
A |
7: 141,395,129 (GRCm39) |
V45E |
unknown |
Het |
Mybpc2 |
A |
G |
7: 44,154,806 (GRCm39) |
V977A |
probably damaging |
Het |
Oas1c |
T |
C |
5: 120,946,744 (GRCm39) |
T29A |
probably benign |
Het |
Pdzd2 |
G |
T |
15: 12,365,853 (GRCm39) |
|
probably null |
Het |
Plk2 |
T |
C |
13: 110,532,912 (GRCm39) |
Y158H |
possibly damaging |
Het |
Prss1l |
T |
C |
6: 41,373,049 (GRCm39) |
I107T |
probably damaging |
Het |
Ptprq |
A |
G |
10: 107,443,983 (GRCm39) |
|
probably benign |
Het |
Rnf17 |
C |
T |
14: 56,658,539 (GRCm39) |
T76I |
probably damaging |
Het |
Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
Sidt2 |
A |
G |
9: 45,854,350 (GRCm39) |
V624A |
possibly damaging |
Het |
Sin3b |
T |
C |
8: 73,483,628 (GRCm39) |
V1005A |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,182,495 (GRCm39) |
V358A |
possibly damaging |
Het |
Zfp120 |
T |
C |
2: 149,961,748 (GRCm39) |
I67V |
possibly damaging |
Het |
Zfp942 |
A |
T |
17: 22,147,605 (GRCm39) |
H341Q |
probably damaging |
Het |
|
Other mutations in Arl5b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02374:Arl5b
|
APN |
2 |
15,073,003 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03213:Arl5b
|
APN |
2 |
15,074,676 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03396:Arl5b
|
APN |
2 |
15,079,915 (GRCm39) |
missense |
probably damaging |
0.96 |
R0559:Arl5b
|
UTSW |
2 |
15,077,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R0959:Arl5b
|
UTSW |
2 |
15,077,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R1160:Arl5b
|
UTSW |
2 |
15,074,648 (GRCm39) |
missense |
probably benign |
0.36 |
R1766:Arl5b
|
UTSW |
2 |
15,074,648 (GRCm39) |
missense |
probably benign |
0.36 |
R2100:Arl5b
|
UTSW |
2 |
15,078,006 (GRCm39) |
missense |
probably benign |
0.03 |
R2403:Arl5b
|
UTSW |
2 |
15,079,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R4272:Arl5b
|
UTSW |
2 |
15,077,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R6782:Arl5b
|
UTSW |
2 |
15,077,993 (GRCm39) |
missense |
probably damaging |
0.98 |
R7423:Arl5b
|
UTSW |
2 |
15,072,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R7898:Arl5b
|
UTSW |
2 |
15,079,869 (GRCm39) |
missense |
probably damaging |
0.99 |
R8528:Arl5b
|
UTSW |
2 |
15,078,138 (GRCm39) |
splice site |
probably null |
|
R9036:Arl5b
|
UTSW |
2 |
15,073,012 (GRCm39) |
critical splice donor site |
probably null |
|
Z1088:Arl5b
|
UTSW |
2 |
15,079,832 (GRCm39) |
missense |
probably benign |
0.04 |
|
Posted On |
2012-12-06 |