Incidental Mutation 'R5520:Arl9'
| ID |
431499 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arl9
|
| Ensembl Gene |
ENSMUSG00000063820 |
| Gene Name |
ADP-ribosylation factor-like 9 |
| Synonyms |
|
| MMRRC Submission |
043079-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5520 (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 77154440 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 56
(V56A)
|
| 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: V56A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000071188
Gene: ENSMUSG00000063820
AA Change: V56A
| 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 |
probably damaging
Transcript: ENSMUST00000134197
AA Change: V41A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122846
Gene: ENSMUSG00000063820
AA Change: V41A
| 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: 99.1%
- 3x: 97.6%
- 10x: 94.8%
- 20x: 88.6%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
T |
A |
4: 144,504,594 (GRCm39) |
T186S |
probably benign |
Het |
| AI467606 |
C |
T |
7: 126,691,998 (GRCm39) |
P191L |
probably benign |
Het |
| Aoc1l1 |
C |
A |
6: 48,952,728 (GRCm39) |
Q218K |
possibly damaging |
Het |
| Cacng5 |
T |
C |
11: 107,768,248 (GRCm39) |
Q253R |
probably benign |
Het |
| Cc2d1b |
T |
C |
4: 108,483,556 (GRCm39) |
M331T |
possibly damaging |
Het |
| Cep97 |
A |
G |
16: 55,735,659 (GRCm39) |
S380P |
probably benign |
Het |
| Clpx |
A |
T |
9: 65,224,730 (GRCm39) |
K153* |
probably null |
Het |
| Dclk2 |
A |
G |
3: 86,827,147 (GRCm39) |
S111P |
probably damaging |
Het |
| E2f7 |
A |
G |
10: 110,595,806 (GRCm39) |
E167G |
probably damaging |
Het |
| Edn1 |
T |
C |
13: 42,455,436 (GRCm39) |
|
probably null |
Het |
| Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,520,589 (GRCm39) |
H257N |
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,146,414 (GRCm39) |
T22A |
probably benign |
Het |
| Gm17019 |
A |
T |
5: 15,082,819 (GRCm39) |
M45K |
possibly damaging |
Het |
| Gpr162 |
T |
C |
6: 124,837,876 (GRCm39) |
D258G |
probably damaging |
Het |
| Grk1 |
T |
A |
8: 13,459,305 (GRCm39) |
D285E |
probably benign |
Het |
| Herc6 |
A |
T |
6: 57,624,105 (GRCm39) |
D625V |
possibly damaging |
Het |
| Igkv1-135 |
C |
T |
6: 67,587,324 (GRCm39) |
P65L |
possibly damaging |
Het |
| Lepr |
T |
C |
4: 101,602,734 (GRCm39) |
L174P |
probably benign |
Het |
| Nphp3 |
A |
G |
9: 103,901,872 (GRCm39) |
S689G |
probably benign |
Het |
| Or14c44 |
T |
A |
7: 86,062,064 (GRCm39) |
S165T |
probably benign |
Het |
| Or5w20 |
T |
C |
2: 87,726,753 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
A |
G |
17: 33,284,367 (GRCm39) |
Y812H |
probably benign |
Het |
| Plxnb2 |
T |
G |
15: 89,051,746 (GRCm39) |
T158P |
possibly damaging |
Het |
| Pramel32 |
A |
C |
4: 88,548,277 (GRCm39) |
S43A |
probably damaging |
Het |
| R3hcc1 |
T |
A |
14: 69,936,057 (GRCm39) |
K437* |
probably null |
Het |
| Rnf213 |
C |
A |
11: 119,324,325 (GRCm39) |
H1428Q |
probably damaging |
Het |
| Ro60 |
A |
T |
1: 143,646,509 (GRCm39) |
S79T |
probably benign |
Het |
| Spata31e2 |
A |
T |
1: 26,724,900 (GRCm39) |
N93K |
probably benign |
Het |
| Ssx2ip |
G |
A |
3: 146,143,066 (GRCm39) |
R548H |
probably benign |
Het |
| Trim23 |
C |
T |
13: 104,324,035 (GRCm39) |
R165C |
probably damaging |
Het |
| Ulk2 |
T |
G |
11: 61,698,970 (GRCm39) |
T405P |
probably damaging |
Het |
| Unkl |
G |
A |
17: 25,424,584 (GRCm39) |
V204I |
probably damaging |
Het |
| Vmn1r43 |
T |
C |
6: 89,846,728 (GRCm39) |
T253A |
probably damaging |
Het |
| Zfp534 |
T |
C |
4: 147,759,887 (GRCm39) |
I261V |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAGTCCCAATTGGCATGG -3'
(R):5'- TTGCCAGCACTACAAAGGGAG -3'
Sequencing Primer
(F):5'- CAGTCCCAATTGGCATGGGTTTAC -3'
(R):5'- ACCACTGGCACCGGGAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation