Incidental Mutation 'R4349:Acbd6'
| ID |
328425 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acbd6
|
| Ensembl Gene |
ENSMUSG00000033701 |
| Gene Name |
acyl-Coenzyme A binding domain containing 6 |
| Synonyms |
0610010G04Rik, 2610100E10Rik |
| MMRRC Submission |
041104-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R4349 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
155433845-155564120 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 155562827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 276
(R276L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035560]
|
| AlphaFold |
Q9D061 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035560
AA Change: R276L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000049124
Gene: ENSMUSG00000033701
AA Change: R276L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
30 |
N/A |
INTRINSIC |
|
Pfam:ACBP
|
43 |
123 |
1.5e-26 |
PFAM |
|
low complexity region
|
130 |
148 |
N/A |
INTRINSIC |
|
ANK
|
157 |
187 |
2.43e3 |
SMART |
|
ANK
|
191 |
220 |
8.65e-5 |
SMART |
|
ANK
|
224 |
253 |
8.19e-6 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000192730
AA Change: R30L
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194476
|
| Meta Mutation Damage Score |
0.0806 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bahcc1 |
G |
A |
11: 120,150,027 (GRCm39) |
R103Q |
probably damaging |
Het |
| Cd101 |
G |
A |
3: 100,920,630 (GRCm39) |
T423M |
possibly damaging |
Het |
| Cdh20 |
A |
G |
1: 104,906,814 (GRCm39) |
D547G |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,176,312 (GRCm39) |
E801G |
probably damaging |
Het |
| Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
| Enam |
T |
C |
5: 88,651,407 (GRCm39) |
L972P |
probably damaging |
Het |
| Espl1 |
C |
A |
15: 102,228,039 (GRCm39) |
T1630N |
probably benign |
Het |
| Fra10ac1 |
A |
G |
19: 38,188,053 (GRCm39) |
S248P |
probably benign |
Het |
| Grik1 |
T |
C |
16: 87,754,431 (GRCm39) |
R385G |
probably damaging |
Het |
| Gtpbp8 |
T |
A |
16: 44,566,560 (GRCm39) |
|
probably null |
Het |
| Kif23 |
C |
T |
9: 61,839,396 (GRCm39) |
V284M |
probably damaging |
Het |
| Klhdc7a |
A |
G |
4: 139,693,588 (GRCm39) |
V453A |
possibly damaging |
Het |
| Klhl35 |
G |
A |
7: 99,122,926 (GRCm39) |
V517M |
probably benign |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Marchf7 |
T |
C |
2: 60,064,539 (GRCm39) |
S272P |
probably benign |
Het |
| Milr1 |
T |
C |
11: 106,654,708 (GRCm39) |
S84P |
possibly damaging |
Het |
| Nrp2 |
A |
G |
1: 62,777,576 (GRCm39) |
D127G |
probably damaging |
Het |
| Or12j5 |
A |
T |
7: 140,084,270 (GRCm39) |
L34* |
probably null |
Het |
| Otog |
A |
T |
7: 45,923,613 (GRCm39) |
Q1082L |
probably damaging |
Het |
| Pacsin1 |
G |
A |
17: 27,925,978 (GRCm39) |
V107I |
possibly damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,489,590 (GRCm39) |
H1668R |
probably damaging |
Het |
| Pigv |
T |
C |
4: 133,392,127 (GRCm39) |
T348A |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Rbm25 |
A |
G |
12: 83,721,947 (GRCm39) |
D711G |
probably damaging |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Sec24a |
G |
T |
11: 51,605,976 (GRCm39) |
Q692K |
probably benign |
Het |
| Sidt2 |
C |
T |
9: 45,857,011 (GRCm39) |
D205N |
possibly damaging |
Het |
| Skint10 |
T |
C |
4: 112,626,968 (GRCm39) |
*113W |
probably null |
Het |
| Tet3 |
T |
C |
6: 83,380,257 (GRCm39) |
E637G |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,464,605 (GRCm39) |
I562F |
probably benign |
Het |
| Zfp593 |
T |
C |
4: 133,972,367 (GRCm39) |
T78A |
probably benign |
Het |
| Zfp605 |
T |
A |
5: 110,276,552 (GRCm39) |
C557S |
probably damaging |
Het |
|
| Other mutations in Acbd6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Cassette
|
UTSW |
1 |
155,562,827 (GRCm39) |
missense |
probably benign |
|
|
walkman
|
UTSW |
1 |
155,562,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1897:Acbd6
|
UTSW |
1 |
155,434,564 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2190:Acbd6
|
UTSW |
1 |
155,500,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2234:Acbd6
|
UTSW |
1 |
155,434,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2235:Acbd6
|
UTSW |
1 |
155,434,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3730:Acbd6
|
UTSW |
1 |
155,434,471 (GRCm39) |
missense |
probably benign |
0.24 |
|
R3731:Acbd6
|
UTSW |
1 |
155,434,471 (GRCm39) |
missense |
probably benign |
0.24 |
|
R3888:Acbd6
|
UTSW |
1 |
155,500,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4905:Acbd6
|
UTSW |
1 |
155,500,669 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4983:Acbd6
|
UTSW |
1 |
155,477,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5285:Acbd6
|
UTSW |
1 |
155,434,471 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5297:Acbd6
|
UTSW |
1 |
155,463,204 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5955:Acbd6
|
UTSW |
1 |
155,463,205 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7472:Acbd6
|
UTSW |
1 |
155,463,213 (GRCm39) |
nonsense |
probably null |
|
|
R7719:Acbd6
|
UTSW |
1 |
155,562,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7911:Acbd6
|
UTSW |
1 |
155,562,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7960:Acbd6
|
UTSW |
1 |
155,562,766 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8762:Acbd6
|
UTSW |
1 |
155,562,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9542:Acbd6
|
UTSW |
1 |
155,443,356 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTAGGCCTCCTTGCTAC -3'
(R):5'- TGCTGAGACGTCGAAATCC -3'
Sequencing Primer
(F):5'- TTCCTGCTGCACGGAGC -3'
(R):5'- TGAGACGTCGAAATCCCAGTTC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation