Incidental Mutation 'R5731:Arl9'
ID |
452751 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arl9
|
Ensembl Gene |
ENSMUSG00000063820 |
Gene Name |
ADP-ribosylation factor-like 9 |
Synonyms |
|
MMRRC Submission |
043192-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5731 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
77151902-77158453 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 77154374 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 34
(V34A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071188
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071199]
[ENSMUST00000134197]
|
AlphaFold |
Q6IMB2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071199
AA Change: V34A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000071188 Gene: ENSMUSG00000063820 AA Change: V34A
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 |
noncoding transcript
Transcript: ENSMUST00000129353
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134197
AA Change: V19A
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000122846 Gene: ENSMUSG00000063820 AA Change: V19A
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5930422O12Rik |
A |
G |
8: 33,919,353 (GRCm39) |
I58V |
unknown |
Het |
Abca4 |
G |
T |
3: 121,926,242 (GRCm39) |
G18V |
probably damaging |
Het |
Bpifb9a |
A |
T |
2: 154,104,163 (GRCm39) |
N202I |
possibly damaging |
Het |
C1qtnf6 |
A |
T |
15: 78,411,514 (GRCm39) |
M54K |
probably benign |
Het |
Ccdc62 |
T |
C |
5: 124,089,352 (GRCm39) |
|
probably null |
Het |
Cd177 |
A |
G |
7: 24,443,846 (GRCm39) |
C751R |
probably damaging |
Het |
Clcn3 |
T |
C |
8: 61,375,923 (GRCm39) |
I657V |
possibly damaging |
Het |
Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
Dag1 |
T |
C |
9: 108,095,310 (GRCm39) |
T61A |
probably benign |
Het |
Fam184b |
C |
T |
5: 45,710,471 (GRCm39) |
G553E |
probably benign |
Het |
Fkbp15 |
G |
C |
4: 62,225,166 (GRCm39) |
A831G |
probably benign |
Het |
Flt1 |
T |
C |
5: 147,614,962 (GRCm39) |
H328R |
probably benign |
Het |
Fmnl2 |
T |
A |
2: 53,008,149 (GRCm39) |
|
probably null |
Het |
Gm5431 |
A |
G |
11: 48,785,275 (GRCm39) |
Y89H |
probably damaging |
Het |
Gprin2 |
C |
A |
14: 33,917,397 (GRCm39) |
L124F |
probably damaging |
Het |
Hacd2 |
T |
A |
16: 34,922,374 (GRCm39) |
Y188N |
probably damaging |
Het |
Itgad |
A |
G |
7: 127,797,726 (GRCm39) |
T950A |
probably benign |
Het |
Kit |
T |
A |
5: 75,815,075 (GRCm39) |
I933N |
possibly damaging |
Het |
Klhl11 |
A |
T |
11: 100,354,589 (GRCm39) |
Y411N |
probably damaging |
Het |
N4bp2 |
T |
C |
5: 65,966,500 (GRCm39) |
S1313P |
probably damaging |
Het |
Neurog1 |
T |
C |
13: 56,399,354 (GRCm39) |
K131R |
probably damaging |
Het |
Or11h6 |
T |
C |
14: 50,880,248 (GRCm39) |
L170P |
probably damaging |
Het |
Or5d16 |
T |
A |
2: 87,773,771 (GRCm39) |
H67L |
possibly damaging |
Het |
Otogl |
T |
C |
10: 107,717,325 (GRCm39) |
D382G |
probably damaging |
Het |
Pcdh1 |
A |
C |
18: 38,331,651 (GRCm39) |
F590V |
probably damaging |
Het |
Pcdha5 |
G |
A |
18: 37,093,820 (GRCm39) |
V110M |
probably damaging |
Het |
Pdlim3 |
A |
G |
8: 46,368,284 (GRCm39) |
N261D |
probably benign |
Het |
Pou4f1 |
T |
C |
14: 104,703,347 (GRCm39) |
T362A |
unknown |
Het |
Prlr |
A |
G |
15: 10,314,221 (GRCm39) |
T9A |
probably benign |
Het |
Psmb7 |
T |
C |
2: 38,478,289 (GRCm39) |
Y245C |
probably damaging |
Het |
Ryr3 |
T |
A |
2: 112,471,917 (GRCm39) |
D4515V |
probably damaging |
Het |
Svop |
T |
C |
5: 114,198,124 (GRCm39) |
K149E |
probably damaging |
Het |
Tlr3 |
A |
G |
8: 45,851,157 (GRCm39) |
V56A |
probably benign |
Het |
Tm4sf20 |
T |
G |
1: 82,738,013 (GRCm39) |
I93L |
probably benign |
Het |
Ugt2b5 |
T |
A |
5: 87,288,111 (GRCm39) |
R19* |
probably null |
Het |
Vmn2r28 |
G |
T |
7: 5,491,668 (GRCm39) |
T193K |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,802,661 (GRCm39) |
D654G |
probably damaging |
Het |
Zfyve16 |
T |
A |
13: 92,644,701 (GRCm39) |
Q1167L |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTTTAGACTGGTTAGCAATTCTAC -3'
(R):5'- ACACATCATCCCTAAGTGCAGG -3'
Sequencing Primer
(F):5'- CTGGTATAGGGTCCTAATACAGC -3'
(R):5'- AGTGTCACATCCTGCAAGGTC -3'
|
Posted On |
2017-01-03 |