Incidental Mutation 'R0559:Arl5b'
| ID |
45776 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arl5b
|
| Ensembl Gene |
ENSMUSG00000017418 |
| Gene Name |
ADP-ribosylation factor-like 5B |
| Synonyms |
Arl8, 4930587A11Rik |
| MMRRC Submission |
038751-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R0559 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
15060066-15087267 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15077998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 108
(Y108H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017562]
[ENSMUST00000069870]
[ENSMUST00000128682]
[ENSMUST00000193836]
|
| AlphaFold |
Q9D4P0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017562
AA Change: Y99H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000017562
Gene: ENSMUSG00000017418
AA Change: Y99H
| Domain | Start | End | E-Value | Type |
|---|
|
ARF
|
4 |
171 |
4.8e-58 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069870
AA Change: Y108H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000069725
Gene: ENSMUSG00000017418
AA Change: Y108H
| Domain | Start | End | E-Value | Type |
|---|
|
ARF
|
2 |
180 |
3.95e-68 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128682
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129509
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192653
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193836
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193883
|
| Meta Mutation Damage Score |
0.1028 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
97% (34/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ARL5B (ARL8) belongs to a family of proteins that are structurally similar to ADP-ribosylation factors (ARFs; see MIM 103180). ARLs and ARFs are part of the RAS superfamily of regulatory GTPases.[supplied by OMIM, Nov 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
T |
5: 8,748,535 (GRCm39) |
I289F |
probably benign |
Het |
| Adam15 |
G |
A |
3: 89,251,085 (GRCm39) |
A540V |
probably damaging |
Het |
| Adat1 |
T |
C |
8: 112,709,062 (GRCm39) |
T254A |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,644,814 (GRCm39) |
V684A |
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,876,618 (GRCm39) |
|
probably benign |
Het |
| Cep85l |
A |
G |
10: 53,224,597 (GRCm39) |
F331L |
probably benign |
Het |
| Ctnna2 |
T |
C |
6: 76,892,833 (GRCm39) |
K785E |
probably damaging |
Het |
| Dgkd |
T |
A |
1: 87,842,826 (GRCm39) |
I118N |
probably damaging |
Het |
| Dicer1 |
G |
A |
12: 104,672,560 (GRCm39) |
R896W |
probably damaging |
Het |
| Eif1ad19 |
T |
A |
12: 87,740,223 (GRCm39) |
H112L |
probably benign |
Het |
| Fbxl19 |
G |
T |
7: 127,349,390 (GRCm39) |
W160L |
possibly damaging |
Het |
| H1f8 |
T |
C |
6: 115,924,760 (GRCm39) |
Y89H |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,176,053 (GRCm39) |
V626A |
probably damaging |
Het |
| Isx |
A |
G |
8: 75,600,369 (GRCm39) |
K34R |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,196,011 (GRCm39) |
E596G |
probably benign |
Het |
| Olfml2a |
T |
C |
2: 38,849,832 (GRCm39) |
I516T |
probably damaging |
Het |
| Or14j5 |
C |
T |
17: 38,161,746 (GRCm39) |
R88* |
probably null |
Het |
| Or5w12 |
T |
G |
2: 87,502,244 (GRCm39) |
T156P |
possibly damaging |
Het |
| Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
| Parp9 |
T |
C |
16: 35,768,362 (GRCm39) |
F181L |
probably benign |
Het |
| Pkdcc |
G |
A |
17: 83,523,454 (GRCm39) |
G187D |
probably benign |
Het |
| Plekhh3 |
C |
T |
11: 101,055,592 (GRCm39) |
E483K |
possibly damaging |
Het |
| Ptx4 |
C |
T |
17: 25,342,082 (GRCm39) |
Q186* |
probably null |
Het |
| Qsox2 |
T |
A |
2: 26,104,169 (GRCm39) |
H287L |
probably benign |
Het |
| Rev3l |
G |
A |
10: 39,700,483 (GRCm39) |
G1660D |
probably damaging |
Het |
| Scamp1 |
G |
T |
13: 94,344,690 (GRCm39) |
A217E |
possibly damaging |
Het |
| Slc5a9 |
T |
C |
4: 111,742,779 (GRCm39) |
I438V |
probably benign |
Het |
| Sort1 |
T |
C |
3: 108,263,895 (GRCm39) |
F818S |
probably damaging |
Het |
| Srl |
G |
A |
16: 4,314,842 (GRCm39) |
P267S |
probably benign |
Het |
| Tbc1d1 |
T |
C |
5: 64,331,136 (GRCm39) |
I105T |
probably damaging |
Het |
| Tifab |
A |
G |
13: 56,324,060 (GRCm39) |
Y128H |
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,058,282 (GRCm39) |
S907T |
probably damaging |
Het |
| Ubr1 |
G |
A |
2: 120,778,364 (GRCm39) |
R225* |
probably null |
Het |
| Upk3bl |
A |
G |
5: 136,086,330 (GRCm39) |
T89A |
probably benign |
Het |
| Vars1 |
T |
A |
17: 35,233,034 (GRCm39) |
C916* |
probably null |
Het |
| Ywhaz |
T |
C |
15: 36,791,208 (GRCm39) |
E5G |
possibly damaging |
Het |
| Zfp91 |
T |
C |
19: 12,747,419 (GRCm39) |
D568G |
probably damaging |
Het |
| Zgpat |
T |
C |
2: 181,021,985 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Arl5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00586:Arl5b
|
APN |
2 |
15,074,746 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02374:Arl5b
|
APN |
2 |
15,073,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03213:Arl5b
|
APN |
2 |
15,074,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03396:Arl5b
|
APN |
2 |
15,079,915 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0959:Arl5b
|
UTSW |
2 |
15,077,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1160:Arl5b
|
UTSW |
2 |
15,074,648 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1766:Arl5b
|
UTSW |
2 |
15,074,648 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2100:Arl5b
|
UTSW |
2 |
15,078,006 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2403:Arl5b
|
UTSW |
2 |
15,079,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4272:Arl5b
|
UTSW |
2 |
15,077,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6782:Arl5b
|
UTSW |
2 |
15,077,993 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7423:Arl5b
|
UTSW |
2 |
15,072,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7898:Arl5b
|
UTSW |
2 |
15,079,869 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8528:Arl5b
|
UTSW |
2 |
15,078,138 (GRCm39) |
splice site |
probably null |
|
|
R9036:Arl5b
|
UTSW |
2 |
15,073,012 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1088:Arl5b
|
UTSW |
2 |
15,079,832 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTAGCAGGGATAGTGCCAAGTG -3'
(R):5'- AGTTTTGTTGGTCTCCCACCATGAC -3'
Sequencing Primer
(F):5'- CCAAGTGAGAGCTAATGTTGATGC -3'
(R):5'- TTGTAGCAAGCAAATTAACAGGC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation