Incidental Mutation 'R6599:Acbd5'
| ID |
525097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acbd5
|
| Ensembl Gene |
ENSMUSG00000026781 |
| Gene Name |
acyl-Coenzyme A binding domain containing 5 |
| Synonyms |
1300014E15Rik |
| MMRRC Submission |
044723-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6599 (G1)
|
| Quality Score |
82.0076 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
22958189-23004525 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
C to T
at 22959092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028121]
[ENSMUST00000114523]
[ENSMUST00000114526]
[ENSMUST00000114529]
[ENSMUST00000144088]
[ENSMUST00000155602]
[ENSMUST00000226571]
[ENSMUST00000227809]
[ENSMUST00000228050]
[ENSMUST00000227663]
|
| AlphaFold |
Q5XG73 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028121
|
| SMART Domains |
Protein: ENSMUSP00000028121
Gene: ENSMUSG00000026781
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACBP
|
8 |
96 |
3.4e-35 |
PFAM |
|
low complexity region
|
117 |
130 |
N/A |
INTRINSIC |
|
coiled coil region
|
152 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
325 |
N/A |
INTRINSIC |
|
coiled coil region
|
392 |
414 |
N/A |
INTRINSIC |
|
transmembrane domain
|
442 |
464 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114523
|
| SMART Domains |
Protein: ENSMUSP00000110169
Gene: ENSMUSG00000026781
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACBP
|
8 |
96 |
2.4e-35 |
PFAM |
|
low complexity region
|
117 |
130 |
N/A |
INTRINSIC |
|
coiled coil region
|
152 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
325 |
N/A |
INTRINSIC |
|
coiled coil region
|
393 |
415 |
N/A |
INTRINSIC |
|
transmembrane domain
|
443 |
465 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114526
|
| SMART Domains |
Protein: ENSMUSP00000110172
Gene: ENSMUSG00000026781
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
Pfam:ACBP
|
44 |
132 |
4.7e-35 |
PFAM |
|
low complexity region
|
153 |
166 |
N/A |
INTRINSIC |
|
coiled coil region
|
188 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
346 |
361 |
N/A |
INTRINSIC |
|
coiled coil region
|
428 |
450 |
N/A |
INTRINSIC |
|
transmembrane domain
|
478 |
500 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114529
|
| SMART Domains |
Protein: ENSMUSP00000110175
Gene: ENSMUSG00000026781
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
Pfam:ACBP
|
45 |
129 |
4.9e-30 |
PFAM |
|
low complexity region
|
153 |
166 |
N/A |
INTRINSIC |
|
coiled coil region
|
188 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
346 |
361 |
N/A |
INTRINSIC |
|
coiled coil region
|
429 |
451 |
N/A |
INTRINSIC |
|
transmembrane domain
|
479 |
501 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144088
|
| SMART Domains |
Protein: ENSMUSP00000121395
Gene: ENSMUSG00000026781
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACBP
|
8 |
52 |
4.4e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155602
|
| SMART Domains |
Protein: ENSMUSP00000117325
Gene: ENSMUSG00000026781
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACBP
|
8 |
96 |
3.5e-36 |
PFAM |
|
low complexity region
|
117 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
146 |
157 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226571
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228891
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227809
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228856
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228778
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227663
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
| Validation Efficiency |
94% (32/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A related protein in yeast is involved in autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,882,250 (GRCm39) |
H150R |
probably benign |
Het |
| Adcyap1r1 |
G |
A |
6: 55,456,979 (GRCm39) |
V237M |
probably damaging |
Het |
| Akr1c6 |
T |
G |
13: 4,499,318 (GRCm39) |
|
probably null |
Het |
| Ccdc7b |
T |
A |
8: 129,893,462 (GRCm39) |
F96L |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,315,484 (GRCm39) |
H2983R |
possibly damaging |
Het |
| Dhx40 |
T |
A |
11: 86,695,175 (GRCm39) |
I112L |
possibly damaging |
Het |
| Dnmbp |
A |
T |
19: 43,845,025 (GRCm39) |
D1070E |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ep300 |
G |
C |
15: 81,470,914 (GRCm39) |
D29H |
unknown |
Het |
| Exoc3 |
T |
C |
13: 74,337,277 (GRCm39) |
|
probably null |
Het |
| Fcsk |
A |
T |
8: 111,619,915 (GRCm39) |
|
probably null |
Het |
| Gm6401 |
C |
A |
14: 41,788,821 (GRCm39) |
E83* |
probably null |
Het |
| Gm8267 |
G |
T |
14: 44,955,367 (GRCm39) |
T218K |
possibly damaging |
Het |
| H1f3 |
T |
C |
13: 23,739,451 (GRCm39) |
|
probably null |
Het |
| Hif3a |
T |
A |
7: 16,776,530 (GRCm39) |
D470V |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,917,505 (GRCm39) |
S1526G |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,299,749 (GRCm39) |
D3101G |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,342,544 (GRCm39) |
|
probably null |
Het |
| Mthfs |
G |
A |
9: 89,121,961 (GRCm39) |
G149D |
probably damaging |
Het |
| Nnmt |
T |
C |
9: 48,514,669 (GRCm39) |
D116G |
probably benign |
Het |
| Nqo2 |
T |
C |
13: 34,163,539 (GRCm39) |
F22S |
probably damaging |
Het |
| Or1e29 |
T |
A |
11: 73,667,506 (GRCm39) |
M216L |
probably benign |
Het |
| Or7e175 |
T |
C |
9: 20,049,239 (GRCm39) |
S276P |
probably damaging |
Het |
| Parm1 |
T |
C |
5: 91,741,718 (GRCm39) |
S29P |
possibly damaging |
Het |
| Prokr2 |
C |
T |
2: 132,215,469 (GRCm39) |
V331M |
possibly damaging |
Het |
| Ptch1 |
T |
A |
13: 63,670,918 (GRCm39) |
I871F |
probably damaging |
Het |
| Rps6ka5 |
C |
A |
12: 100,564,168 (GRCm39) |
G227V |
probably damaging |
Het |
| Tcaim |
C |
T |
9: 122,663,844 (GRCm39) |
Q445* |
probably null |
Het |
| Trappc14 |
G |
T |
5: 138,261,720 (GRCm39) |
|
probably null |
Het |
| Trpc7 |
T |
C |
13: 56,958,193 (GRCm39) |
|
probably null |
Het |
| Ubxn7 |
A |
G |
16: 32,203,743 (GRCm39) |
E465G |
probably damaging |
Het |
| Unk |
G |
A |
11: 115,938,628 (GRCm39) |
R77Q |
probably damaging |
Het |
| Vmn1r226 |
A |
T |
17: 20,908,551 (GRCm39) |
N261I |
probably benign |
Het |
| Vmn1r87 |
T |
A |
7: 12,865,886 (GRCm39) |
K134* |
probably null |
Het |
| Vmn2r10 |
T |
A |
5: 109,143,944 (GRCm39) |
I669L |
probably benign |
Het |
| Vmn2r115 |
A |
G |
17: 23,565,006 (GRCm39) |
I298V |
probably benign |
Het |
| Yipf2 |
T |
C |
9: 21,501,144 (GRCm39) |
K85E |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,698,083 (GRCm39) |
C209S |
probably benign |
Het |
|
| Other mutations in Acbd5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01595:Acbd5
|
APN |
2 |
22,968,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02343:Acbd5
|
APN |
2 |
22,977,507 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03087:Acbd5
|
APN |
2 |
22,979,722 (GRCm39) |
missense |
probably benign |
|
|
R0723:Acbd5
|
UTSW |
2 |
22,959,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1428:Acbd5
|
UTSW |
2 |
22,989,733 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1610:Acbd5
|
UTSW |
2 |
22,980,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1623:Acbd5
|
UTSW |
2 |
22,984,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2918:Acbd5
|
UTSW |
2 |
22,989,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4736:Acbd5
|
UTSW |
2 |
22,989,596 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5369:Acbd5
|
UTSW |
2 |
23,002,522 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6207:Acbd5
|
UTSW |
2 |
22,959,490 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8276:Acbd5
|
UTSW |
2 |
22,959,563 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8529:Acbd5
|
UTSW |
2 |
22,970,704 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8690:Acbd5
|
UTSW |
2 |
22,979,710 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8867:Acbd5
|
UTSW |
2 |
22,970,370 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
| Predicted Primers |
|
| Posted On |
2018-06-22 |
Incidental Mutation