Incidental Mutation 'IGL01557:Arl9'
| ID |
90762 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arl9
|
| Ensembl Gene |
ENSMUSG00000063820 |
| Gene Name |
ADP-ribosylation factor-like 9 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01557
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
77151902-77158453 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 77151948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071199]
[ENSMUST00000101087]
[ENSMUST00000134197]
|
| AlphaFold |
Q6IMB2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000071199
|
| SMART Domains |
Protein: ENSMUSP00000071188
Gene: ENSMUSG00000063820
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
5 |
132 |
1.1e-30 |
PFAM |
|
Pfam:SRPRB
|
16 |
132 |
3.5e-10 |
PFAM |
|
Pfam:Roc
|
20 |
128 |
2.4e-11 |
PFAM |
|
Pfam:Ras
|
20 |
130 |
7.4e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101087
|
| SMART Domains |
Protein: ENSMUSP00000098648
Gene: ENSMUSG00000036323
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
Pfam:TPR_9
|
19 |
70 |
2.7e-2 |
PFAM |
|
Pfam:SRP_TPR_like
|
30 |
157 |
5.5e-25 |
PFAM |
|
Pfam:TPR_8
|
176 |
208 |
2.3e-3 |
PFAM |
|
Pfam:TPR_1
|
226 |
259 |
2.4e-4 |
PFAM |
|
Pfam:TPR_2
|
226 |
259 |
4.9e-5 |
PFAM |
|
Pfam:TPR_8
|
226 |
259 |
1.1e-2 |
PFAM |
|
Pfam:TPR_9
|
412 |
490 |
1.3e-3 |
PFAM |
|
Pfam:SRP72
|
531 |
588 |
6.2e-26 |
PFAM |
|
low complexity region
|
630 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
647 |
668 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129353
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132860
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134197
|
| SMART Domains |
Protein: ENSMUSP00000122846
Gene: ENSMUSG00000063820
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SRPRB
|
1 |
166 |
3.1e-13 |
PFAM |
|
Pfam:Arf
|
2 |
162 |
1e-38 |
PFAM |
|
Pfam:Roc
|
5 |
115 |
1.1e-12 |
PFAM |
|
Pfam:Gtr1_RagA
|
5 |
141 |
8.5e-8 |
PFAM |
|
Pfam:Ras
|
5 |
160 |
4.4e-12 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ARL9 is a member of the small GTPase protein family with a high degree of similarity to ARF (MIM 103180) proteins of the RAS superfamily.[supplied by OMIM, Nov 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
T |
A |
18: 59,101,792 (GRCm39) |
|
probably null |
Het |
| Ces3a |
C |
A |
8: 105,784,383 (GRCm39) |
T439K |
probably damaging |
Het |
| Cyp3a25 |
A |
G |
5: 145,921,711 (GRCm39) |
W408R |
probably damaging |
Het |
| Defb22 |
T |
G |
2: 152,327,999 (GRCm39) |
D62A |
possibly damaging |
Het |
| Dnah17 |
C |
T |
11: 117,964,512 (GRCm39) |
R2422Q |
probably damaging |
Het |
| Ehd3 |
A |
G |
17: 74,112,275 (GRCm39) |
K13R |
probably benign |
Het |
| Fndc1 |
T |
C |
17: 7,975,221 (GRCm39) |
E1406G |
probably damaging |
Het |
| Gak |
A |
C |
5: 108,732,203 (GRCm39) |
Y762D |
probably damaging |
Het |
| Igf2r |
A |
G |
17: 12,923,522 (GRCm39) |
S1187P |
possibly damaging |
Het |
| Ighmbp2 |
T |
C |
19: 3,331,472 (GRCm39) |
E68G |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,060,474 (GRCm39) |
T2448A |
probably damaging |
Het |
| Lrrk2 |
T |
G |
15: 91,584,192 (GRCm39) |
C317W |
probably damaging |
Het |
| Morc1 |
T |
A |
16: 48,319,129 (GRCm39) |
S278T |
probably damaging |
Het |
| Mrps9 |
T |
C |
1: 42,890,510 (GRCm39) |
V20A |
probably benign |
Het |
| Nutm1 |
A |
T |
2: 112,082,163 (GRCm39) |
N304K |
probably benign |
Het |
| Or14j8 |
G |
A |
17: 38,263,742 (GRCm39) |
P58S |
probably damaging |
Het |
| Pcdhb9 |
T |
C |
18: 37,536,100 (GRCm39) |
V698A |
probably damaging |
Het |
| Pitrm1 |
C |
A |
13: 6,602,720 (GRCm39) |
D70E |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,187,203 (GRCm39) |
T3702A |
possibly damaging |
Het |
| Ppm1h |
A |
T |
10: 122,618,086 (GRCm39) |
|
probably null |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Ptpn5 |
T |
C |
7: 46,731,636 (GRCm39) |
Y411C |
probably damaging |
Het |
| Spon2 |
G |
A |
5: 33,374,047 (GRCm39) |
A112V |
probably damaging |
Het |
| Zfp648 |
T |
A |
1: 154,080,426 (GRCm39) |
V195D |
probably benign |
Het |
|
| Other mutations in Arl9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00538:Arl9
|
APN |
5 |
77,151,903 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
IGL01327:Arl9
|
APN |
5 |
77,154,401 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL03068:Arl9
|
APN |
5 |
77,155,225 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0038:Arl9
|
UTSW |
5 |
77,154,322 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0195:Arl9
|
UTSW |
5 |
77,154,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0322:Arl9
|
UTSW |
5 |
77,155,037 (GRCm39) |
intron |
probably benign |
|
|
R0540:Arl9
|
UTSW |
5 |
77,155,118 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1614:Arl9
|
UTSW |
5 |
77,158,412 (GRCm39) |
missense |
probably benign |
|
|
R1735:Arl9
|
UTSW |
5 |
77,154,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3547:Arl9
|
UTSW |
5 |
77,158,326 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4296:Arl9
|
UTSW |
5 |
77,154,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5520:Arl9
|
UTSW |
5 |
77,154,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5731:Arl9
|
UTSW |
5 |
77,154,374 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6018:Arl9
|
UTSW |
5 |
77,155,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6547:Arl9
|
UTSW |
5 |
77,158,257 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7203:Arl9
|
UTSW |
5 |
77,155,118 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7468:Arl9
|
UTSW |
5 |
77,158,276 (GRCm39) |
nonsense |
probably null |
|
|
R7943:Arl9
|
UTSW |
5 |
77,158,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8467:Arl9
|
UTSW |
5 |
77,154,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9649:Arl9
|
UTSW |
5 |
77,155,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation