Incidental Mutation 'R2842:Arl8a'
| ID |
254297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arl8a
|
| Ensembl Gene |
ENSMUSG00000026426 |
| Gene Name |
ADP-ribosylation factor-like 8A |
| Synonyms |
1110033P22Rik, Arl10b |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.557)
|
| Stock # |
R2842 (G1)
|
| Quality Score |
160 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
135074572-135084007 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135082989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 181
(S181P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027682]
[ENSMUST00000027684]
|
| AlphaFold |
Q8VEH3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027682
|
| SMART Domains |
Protein: ENSMUSP00000027682
Gene: ENSMUSG00000026424
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
147 |
416 |
4.4e-25 |
PFAM |
|
low complexity region
|
430 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
453 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027684
AA Change: S181P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027684
Gene: ENSMUSG00000026426
AA Change: S181P
| Domain | Start | End | E-Value | Type |
|---|
|
ARF
|
1 |
185 |
2.25e-31 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123344
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000125774
AA Change: S159P
|
| SMART Domains |
Protein: ENSMUSP00000121545
Gene: ENSMUSG00000026426
AA Change: S159P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Roc
|
16 |
113 |
1e-12 |
PFAM |
|
Pfam:Ras
|
18 |
162 |
4.2e-16 |
PFAM |
|
Pfam:Arf
|
19 |
160 |
6.6e-41 |
PFAM |
|
Pfam:Gtr1_RagA
|
26 |
155 |
3.7e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141177
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146700
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157096
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aplp2 |
C |
T |
9: 31,069,122 (GRCm39) |
R569Q |
probably benign |
Het |
| Armc8 |
A |
G |
9: 99,387,734 (GRCm39) |
S396P |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,743,348 (GRCm39) |
V1541A |
probably benign |
Het |
| Crebbp |
G |
A |
16: 3,927,062 (GRCm39) |
R628C |
probably damaging |
Het |
| Ep400 |
T |
A |
5: 110,846,681 (GRCm39) |
K295* |
probably null |
Het |
| Frem3 |
T |
A |
8: 81,395,978 (GRCm39) |
|
probably null |
Het |
| Gon4l |
T |
C |
3: 88,802,794 (GRCm39) |
V1135A |
probably damaging |
Het |
| Gprc5b |
G |
A |
7: 118,583,302 (GRCm39) |
T189M |
possibly damaging |
Het |
| Gucy2g |
C |
T |
19: 55,229,379 (GRCm39) |
C97Y |
probably damaging |
Het |
| Heatr5a |
T |
A |
12: 52,002,261 (GRCm39) |
K225M |
probably null |
Het |
| Heatr5a |
C |
T |
12: 52,002,260 (GRCm39) |
|
probably null |
Het |
| Insr |
A |
G |
8: 3,252,986 (GRCm39) |
I391T |
probably damaging |
Het |
| Lce1e |
T |
A |
3: 92,615,056 (GRCm39) |
H97L |
unknown |
Het |
| Macf1 |
A |
G |
4: 123,270,210 (GRCm39) |
V6647A |
probably damaging |
Het |
| Mast1 |
T |
C |
8: 85,650,537 (GRCm39) |
R399G |
probably damaging |
Het |
| Mast4 |
C |
A |
13: 102,872,939 (GRCm39) |
S1951I |
probably benign |
Het |
| Mdc1 |
C |
T |
17: 36,159,686 (GRCm39) |
P648S |
probably benign |
Het |
| Mgam |
T |
C |
6: 40,638,279 (GRCm39) |
F410L |
probably benign |
Het |
| Nr2e1 |
T |
C |
10: 42,444,441 (GRCm39) |
R223G |
probably damaging |
Het |
| Otud7b |
G |
A |
3: 96,043,905 (GRCm39) |
E19K |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,512,727 (GRCm39) |
S9P |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,192,566 (GRCm39) |
|
probably null |
Het |
| Prkag3 |
T |
C |
1: 74,780,334 (GRCm39) |
I444V |
probably benign |
Het |
| Rsph10b |
T |
G |
5: 143,916,710 (GRCm39) |
V310G |
possibly damaging |
Het |
| Tmem225 |
T |
C |
9: 40,061,097 (GRCm39) |
Y135H |
probably damaging |
Het |
| Tox2 |
G |
A |
2: 163,046,550 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
C |
T |
16: 94,232,857 (GRCm39) |
P1003L |
probably damaging |
Het |
| Wfikkn2 |
G |
A |
11: 94,129,085 (GRCm39) |
T352I |
probably benign |
Het |
|
| Other mutations in Arl8a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01552:Arl8a
|
APN |
1 |
135,080,606 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0436:Arl8a
|
UTSW |
1 |
135,074,718 (GRCm39) |
start codon destroyed |
probably null |
0.45 |
|
R1639:Arl8a
|
UTSW |
1 |
135,080,561 (GRCm39) |
nonsense |
probably null |
|
|
R2393:Arl8a
|
UTSW |
1 |
135,080,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3873:Arl8a
|
UTSW |
1 |
135,080,610 (GRCm39) |
splice site |
probably null |
|
|
R4764:Arl8a
|
UTSW |
1 |
135,074,837 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5736:Arl8a
|
UTSW |
1 |
135,082,458 (GRCm39) |
missense |
probably benign |
|
|
R6007:Arl8a
|
UTSW |
1 |
135,080,606 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6989:Arl8a
|
UTSW |
1 |
135,074,735 (GRCm39) |
missense |
probably benign |
|
|
R7036:Arl8a
|
UTSW |
1 |
135,082,206 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8758:Arl8a
|
UTSW |
1 |
135,082,189 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGGTATTCCAGTCCCTTC -3'
(R):5'- CCTCAGCAGAATAGGGCTCTAG -3'
Sequencing Primer
(F):5'- GTCTTTTATATCACTAGCTTGGAGC -3'
(R):5'- CTCTAGGAGCCCCAGAGG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation