Incidental Mutation 'IGL02374:Arl5b'
| ID |
291021 |
| 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 # |
IGL02374
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
15060066-15087267 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15073003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 35
(Y35H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017562]
[ENSMUST00000069870]
[ENSMUST00000128682]
[ENSMUST00000193836]
|
| AlphaFold |
Q9D4P0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017562
AA Change: Y26H
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000017562
Gene: ENSMUSG00000017418
AA Change: Y26H
| Domain | Start | End | E-Value | Type |
|---|
|
ARF
|
4 |
171 |
4.8e-58 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069870
AA Change: Y35H
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000069725
Gene: ENSMUSG00000017418
AA Change: Y35H
| Domain | Start | End | E-Value | Type |
|---|
|
ARF
|
2 |
180 |
3.95e-68 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128682
AA Change: Y35H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000129509
AA Change: Y18H
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cnksr3 |
A |
G |
10: 7,070,335 (GRCm39) |
S300P |
probably damaging |
Het |
| Col27a1 |
T |
C |
4: 63,211,486 (GRCm39) |
S1013P |
possibly damaging |
Het |
| Cyp39a1 |
A |
G |
17: 44,060,872 (GRCm39) |
|
probably benign |
Het |
| Deptor |
G |
T |
15: 55,044,357 (GRCm39) |
L174F |
probably damaging |
Het |
| Fah |
T |
C |
7: 84,254,909 (GRCm39) |
E8G |
probably benign |
Het |
| Fastk |
C |
A |
5: 24,649,247 (GRCm39) |
A47S |
possibly damaging |
Het |
| Foxl2 |
C |
T |
9: 98,837,885 (GRCm39) |
L58F |
probably damaging |
Het |
| Gm57858 |
T |
C |
3: 36,074,108 (GRCm39) |
Q347R |
possibly damaging |
Het |
| Igf2bp2 |
G |
T |
16: 21,900,618 (GRCm39) |
H106Q |
probably benign |
Het |
| Igkv12-47 |
T |
C |
6: 69,727,959 (GRCm39) |
T71A |
probably benign |
Het |
| Ino80d |
T |
C |
1: 63,125,220 (GRCm39) |
I81V |
possibly damaging |
Het |
| Ints9 |
G |
A |
14: 65,276,782 (GRCm39) |
E650K |
probably benign |
Het |
| Klc2 |
T |
C |
19: 5,160,438 (GRCm39) |
N408S |
possibly damaging |
Het |
| Klhl32 |
A |
T |
4: 24,743,856 (GRCm39) |
|
probably null |
Het |
| Ksr1 |
C |
T |
11: 78,919,317 (GRCm39) |
G504D |
probably benign |
Het |
| Lonp2 |
C |
A |
8: 87,435,673 (GRCm39) |
D636E |
probably damaging |
Het |
| Lpin3 |
G |
A |
2: 160,737,758 (GRCm39) |
|
probably benign |
Het |
| Mcmdc2 |
C |
T |
1: 9,982,207 (GRCm39) |
A56V |
possibly damaging |
Het |
| Or10al7 |
A |
T |
17: 38,366,412 (GRCm39) |
V24D |
probably damaging |
Het |
| Or4p8 |
A |
T |
2: 88,727,803 (GRCm39) |
I46N |
probably damaging |
Het |
| Pex1 |
T |
C |
5: 3,685,481 (GRCm39) |
I1163T |
probably benign |
Het |
| Ppp1r3a |
C |
T |
6: 14,718,599 (GRCm39) |
V772I |
probably damaging |
Het |
| Ptbp2 |
A |
T |
3: 119,514,342 (GRCm39) |
|
probably benign |
Het |
| Rell1 |
A |
T |
5: 64,095,151 (GRCm39) |
I105K |
possibly damaging |
Het |
| Sis |
A |
T |
3: 72,832,789 (GRCm39) |
S1003T |
probably benign |
Het |
| Slc26a3 |
T |
A |
12: 31,520,832 (GRCm39) |
|
probably benign |
Het |
| Stap1 |
G |
A |
5: 86,244,410 (GRCm39) |
G264R |
probably damaging |
Het |
| Tmem176b |
T |
C |
6: 48,811,560 (GRCm39) |
N30D |
possibly damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,832,056 (GRCm39) |
Y367N |
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,611,815 (GRCm39) |
D1061G |
probably damaging |
Het |
| Ufl1 |
A |
C |
4: 25,259,237 (GRCm39) |
D460E |
probably benign |
Het |
| Vmn2r104 |
T |
C |
17: 20,263,048 (GRCm39) |
I138V |
probably benign |
Het |
| Wdfy2 |
T |
C |
14: 63,171,833 (GRCm39) |
S194P |
probably benign |
Het |
| Zfp408 |
A |
C |
2: 91,476,156 (GRCm39) |
C333G |
probably damaging |
Het |
| Zfp592 |
T |
C |
7: 80,674,731 (GRCm39) |
V565A |
probably damaging |
Het |
|
| Other mutations in Arl5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00586:Arl5b
|
APN |
2 |
15,074,746 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
2015-04-16 |
Incidental Mutation