Incidental Mutation 'R8467:Arl9'
| ID |
656873 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arl9
|
| Ensembl Gene |
ENSMUSG00000063820 |
| Gene Name |
ADP-ribosylation factor-like 9 |
| Synonyms |
|
| MMRRC Submission |
067911-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8467 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
77151902-77158453 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77154446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 58
(I58T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071199]
[ENSMUST00000134197]
|
| AlphaFold |
Q6IMB2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071199
AA Change: I58T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000071188
Gene: ENSMUSG00000063820
AA Change: I58T
| 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 damaging
Transcript: ENSMUST00000134197
AA Change: I43T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122846
Gene: ENSMUSG00000063820
AA Change: I43T
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (38/38) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apon |
G |
A |
10: 128,091,002 (GRCm39) |
V227I |
probably benign |
Het |
| C4b |
T |
C |
17: 34,951,787 (GRCm39) |
T1326A |
possibly damaging |
Het |
| Cd55b |
A |
C |
1: 130,347,501 (GRCm39) |
S103R |
possibly damaging |
Het |
| Cep350 |
A |
G |
1: 155,791,321 (GRCm39) |
F1268L |
probably benign |
Het |
| D17H6S53E |
T |
A |
17: 35,346,246 (GRCm39) |
D52E |
probably damaging |
Het |
| Dhx57 |
G |
C |
17: 80,561,853 (GRCm39) |
P887R |
probably damaging |
Het |
| Ehd1 |
T |
G |
19: 6,331,318 (GRCm39) |
S159A |
probably benign |
Het |
| Fam98a |
C |
A |
17: 75,851,830 (GRCm39) |
G84W |
probably damaging |
Het |
| Fbxl22 |
C |
T |
9: 66,421,849 (GRCm39) |
|
probably null |
Het |
| Gbp11 |
T |
A |
5: 105,475,457 (GRCm39) |
Y297F |
probably damaging |
Het |
| Gimap8 |
A |
G |
6: 48,627,269 (GRCm39) |
H81R |
probably benign |
Het |
| Gpd2 |
A |
G |
2: 57,254,596 (GRCm39) |
E680G |
possibly damaging |
Het |
| Grid2 |
A |
G |
6: 64,510,635 (GRCm39) |
D755G |
probably benign |
Het |
| Hivep3 |
T |
C |
4: 119,952,238 (GRCm39) |
Y185H |
probably damaging |
Het |
| Hunk |
A |
G |
16: 90,293,508 (GRCm39) |
R597G |
probably damaging |
Het |
| Igfbp3 |
A |
G |
11: 7,163,523 (GRCm39) |
C90R |
probably damaging |
Het |
| Il7r |
T |
C |
15: 9,512,973 (GRCm39) |
T179A |
probably benign |
Het |
| Iqsec3 |
G |
A |
6: 121,358,676 (GRCm39) |
T1003I |
probably benign |
Het |
| Kif13b |
A |
T |
14: 64,996,154 (GRCm39) |
D980V |
probably damaging |
Het |
| Kif21b |
A |
G |
1: 136,100,021 (GRCm39) |
D1525G |
probably damaging |
Het |
| Lgsn |
A |
G |
1: 31,242,731 (GRCm39) |
E271G |
probably benign |
Het |
| Lrp1 |
G |
A |
10: 127,394,519 (GRCm39) |
R2565C |
probably damaging |
Het |
| Marchf10 |
A |
T |
11: 105,280,979 (GRCm39) |
Y435* |
probably null |
Het |
| Msantd5 |
A |
G |
11: 51,125,105 (GRCm39) |
I108V |
possibly damaging |
Het |
| Mup9 |
C |
T |
4: 60,376,481 (GRCm39) |
|
probably null |
Het |
| Myo6 |
T |
A |
9: 80,136,168 (GRCm39) |
V97E |
probably damaging |
Het |
| Nobox |
G |
T |
6: 43,282,479 (GRCm39) |
D309E |
probably benign |
Het |
| Nup155 |
A |
G |
15: 8,151,015 (GRCm39) |
D355G |
probably benign |
Het |
| Or6n1 |
A |
T |
1: 173,917,007 (GRCm39) |
T134S |
probably benign |
Het |
| Otud7b |
A |
G |
3: 96,062,993 (GRCm39) |
D744G |
probably benign |
Het |
| Phgdh |
A |
G |
3: 98,228,627 (GRCm39) |
V182A |
probably benign |
Het |
| Scarb1 |
A |
T |
5: 125,375,731 (GRCm39) |
I231N |
probably damaging |
Het |
| Scn9a |
A |
G |
2: 66,332,015 (GRCm39) |
L1276P |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,597,121 (GRCm39) |
M1K |
probably null |
Het |
| Sp3 |
G |
A |
2: 72,801,482 (GRCm39) |
T177I |
possibly damaging |
Het |
| Vmn1r21 |
A |
T |
6: 57,821,441 (GRCm39) |
M1K |
probably null |
Het |
| Zfyve16 |
A |
T |
13: 92,644,790 (GRCm39) |
H1137Q |
probably damaging |
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 |
|
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 |
|
R9649:Arl9
|
UTSW |
5 |
77,155,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCAATTGGCATGGGTTTAC -3'
(R):5'- TTGCCAGCACTACAAAGGGAG -3'
Sequencing Primer
(F):5'- ACTGGTTTACCTTTTATTTCACAGG -3'
(R):5'- CCAGCACTACAAAGGGAGAAAACG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation