Incidental Mutation 'IGL00538:Arl9'
ID |
6422 |
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 # |
IGL00538
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
77151902-77158453 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to A
at 77151903 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071188
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071199]
[ENSMUST00000101087]
[ENSMUST00000134197]
|
AlphaFold |
Q6IMB2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000071199
AA Change: M1K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000071188 Gene: ENSMUSG00000063820 AA Change: M1K
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asf1a |
T |
C |
10: 53,482,227 (GRCm39) |
L13P |
probably damaging |
Het |
Atg2b |
T |
G |
12: 105,611,175 (GRCm39) |
H1252P |
probably benign |
Het |
Cacna2d1 |
C |
T |
5: 16,451,783 (GRCm39) |
R216* |
probably null |
Het |
Cdc42ep3 |
G |
A |
17: 79,642,884 (GRCm39) |
A12V |
possibly damaging |
Het |
Cntn3 |
G |
A |
6: 102,397,223 (GRCm39) |
Q117* |
probably null |
Het |
Cyp3a41b |
G |
A |
5: 145,515,010 (GRCm39) |
|
probably benign |
Het |
Dhx36 |
T |
C |
3: 62,408,466 (GRCm39) |
E124G |
probably benign |
Het |
Galnt7 |
T |
A |
8: 58,005,556 (GRCm39) |
T226S |
possibly damaging |
Het |
H2al3 |
T |
A |
X: 9,716,244 (GRCm39) |
|
probably benign |
Het |
Ighv1-7 |
C |
A |
12: 114,502,381 (GRCm39) |
E29* |
probably null |
Het |
Iqcb1 |
G |
T |
16: 36,678,948 (GRCm39) |
V421F |
probably benign |
Het |
Lrrc8c |
G |
A |
5: 105,755,076 (GRCm39) |
V284I |
probably damaging |
Het |
Rpp14 |
G |
A |
14: 8,083,934 (GRCm38) |
G30E |
possibly damaging |
Het |
Samd9l |
A |
T |
6: 3,376,779 (GRCm39) |
Y161N |
probably damaging |
Het |
Slc14a1 |
A |
T |
18: 78,147,288 (GRCm39) |
F313Y |
probably damaging |
Het |
Taco1 |
T |
A |
11: 105,962,805 (GRCm39) |
I164N |
probably damaging |
Het |
Tenm3 |
G |
T |
8: 48,689,060 (GRCm39) |
H2176N |
probably damaging |
Het |
Tmem156 |
T |
C |
5: 65,231,183 (GRCm39) |
Y165C |
probably damaging |
Het |
Trpc7 |
A |
T |
13: 56,921,622 (GRCm39) |
N731K |
possibly damaging |
Het |
Ubox5 |
T |
C |
2: 130,441,808 (GRCm39) |
N293S |
probably damaging |
Het |
|
Other mutations in Arl9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01327:Arl9
|
APN |
5 |
77,154,401 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL01557:Arl9
|
APN |
5 |
77,151,948 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
2012-04-20 |