Incidental Mutation 'R1428:Acbd5'
ID |
161379 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acbd5
|
Ensembl Gene |
ENSMUSG00000026781 |
Gene Name |
acyl-Coenzyme A binding domain containing 5 |
Synonyms |
1300014E15Rik |
MMRRC Submission |
039484-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1428 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
22958189-23004525 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 22989733 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 452
(V452A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154043
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028121]
[ENSMUST00000114523]
[ENSMUST00000114526]
[ENSMUST00000114529]
[ENSMUST00000155602]
[ENSMUST00000227809]
[ENSMUST00000226571]
[ENSMUST00000227663]
[ENSMUST00000228050]
|
AlphaFold |
Q5XG73 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028121
AA Change: V405A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000028121 Gene: ENSMUSG00000026781 AA Change: V405A
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 damaging
Transcript: ENSMUST00000114523
AA Change: V405A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000110169 Gene: ENSMUSG00000026781 AA Change: V405A
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 |
possibly damaging
Transcript: ENSMUST00000114526
AA Change: V440A
PolyPhen 2
Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000110172 Gene: ENSMUSG00000026781 AA Change: V440A
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 damaging
Transcript: ENSMUST00000114529
AA Change: V441A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000110175 Gene: ENSMUSG00000026781 AA Change: V441A
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 damaging
Transcript: ENSMUST00000155602
AA Change: V416A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000117325 Gene: ENSMUSG00000026781 AA Change: V416A
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 |
noncoding transcript
Transcript: ENSMUST00000226252
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227809
AA Change: V404A
PolyPhen 2
Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226571
AA Change: V451A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227663
AA Change: V415A
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228050
AA Change: V452A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227489
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227612
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228856
|
Meta Mutation Damage Score |
0.2153 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.2%
|
Validation Efficiency |
98% (56/57) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
T |
C |
6: 146,853,909 (GRCm39) |
I249M |
possibly damaging |
Het |
Abl1 |
G |
T |
2: 31,691,822 (GRCm39) |
A1114S |
probably damaging |
Het |
Armc12 |
A |
G |
17: 28,756,910 (GRCm39) |
D225G |
probably damaging |
Het |
Atad3a |
T |
A |
4: 155,840,139 (GRCm39) |
Q121H |
probably damaging |
Het |
Atosa |
A |
T |
9: 74,913,603 (GRCm39) |
T79S |
probably benign |
Het |
Bptf |
T |
A |
11: 106,963,873 (GRCm39) |
I1711F |
probably damaging |
Het |
C2cd4c |
A |
T |
10: 79,448,064 (GRCm39) |
I361N |
probably damaging |
Het |
Canx |
A |
G |
11: 50,199,221 (GRCm39) |
|
probably benign |
Het |
Ccdc127 |
C |
T |
13: 74,505,034 (GRCm39) |
T194I |
probably benign |
Het |
Cdc42ep3 |
T |
C |
17: 79,642,465 (GRCm39) |
K152E |
probably benign |
Het |
Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
Cnbd2 |
T |
C |
2: 156,181,204 (GRCm39) |
|
probably null |
Het |
Cplane1 |
T |
A |
15: 8,248,853 (GRCm39) |
Y1801N |
possibly damaging |
Het |
Crybg1 |
T |
C |
10: 43,851,074 (GRCm39) |
N1599S |
probably benign |
Het |
Cyc1 |
T |
C |
15: 76,228,548 (GRCm39) |
V59A |
probably benign |
Het |
Cyp2j11 |
T |
C |
4: 96,183,117 (GRCm39) |
K484E |
probably benign |
Het |
Ddx60 |
T |
C |
8: 62,411,193 (GRCm39) |
|
probably benign |
Het |
Epg5 |
T |
C |
18: 78,005,642 (GRCm39) |
S711P |
probably damaging |
Het |
Espl1 |
A |
T |
15: 102,214,120 (GRCm39) |
Q649L |
probably benign |
Het |
Eya1 |
G |
A |
1: 14,374,638 (GRCm39) |
|
probably benign |
Het |
Fat2 |
T |
A |
11: 55,186,913 (GRCm39) |
Y1311F |
probably damaging |
Het |
Garin5b |
T |
A |
7: 4,760,687 (GRCm39) |
H675L |
possibly damaging |
Het |
Gins4 |
T |
C |
8: 23,717,144 (GRCm39) |
Y208C |
probably damaging |
Het |
Gsk3b |
T |
C |
16: 37,910,937 (GRCm39) |
V17A |
probably benign |
Het |
Gykl1 |
A |
T |
18: 52,827,833 (GRCm39) |
K347I |
probably benign |
Het |
Helz |
T |
A |
11: 107,483,666 (GRCm39) |
|
probably benign |
Het |
Hivep3 |
C |
T |
4: 119,953,772 (GRCm39) |
T696I |
possibly damaging |
Het |
Ifi27l2a |
G |
T |
12: 103,409,093 (GRCm39) |
|
probably benign |
Het |
Kif13a |
A |
G |
13: 46,944,987 (GRCm39) |
|
probably benign |
Het |
Kpna3 |
C |
T |
14: 61,620,669 (GRCm39) |
|
probably benign |
Het |
Mmp15 |
C |
G |
8: 96,096,190 (GRCm39) |
P327R |
probably benign |
Het |
Mrc1 |
A |
T |
2: 14,320,074 (GRCm39) |
T1003S |
probably benign |
Het |
Mtss1 |
T |
C |
15: 58,819,239 (GRCm39) |
D393G |
probably benign |
Het |
Olfm4 |
T |
A |
14: 80,258,843 (GRCm39) |
Y331N |
probably damaging |
Het |
Or10a49 |
T |
A |
7: 108,468,167 (GRCm39) |
N65Y |
probably damaging |
Het |
Or4c12b |
G |
C |
2: 89,646,725 (GRCm39) |
L12F |
probably damaging |
Het |
P2rx3 |
G |
C |
2: 84,855,294 (GRCm39) |
T54R |
possibly damaging |
Het |
Pacsin1 |
C |
T |
17: 27,924,937 (GRCm39) |
T217I |
probably damaging |
Het |
Phlpp1 |
A |
G |
1: 106,308,155 (GRCm39) |
|
probably null |
Het |
Pknox1 |
T |
C |
17: 31,811,066 (GRCm39) |
|
probably benign |
Het |
Plb1 |
A |
G |
5: 32,422,256 (GRCm39) |
R70G |
possibly damaging |
Het |
Rab3gap2 |
G |
A |
1: 184,980,101 (GRCm39) |
A340T |
probably damaging |
Het |
Rnf103 |
T |
A |
6: 71,485,983 (GRCm39) |
W205R |
probably damaging |
Het |
Rps6kc1 |
G |
A |
1: 190,530,923 (GRCm39) |
T936M |
probably damaging |
Het |
Spef2 |
T |
C |
15: 9,596,793 (GRCm39) |
|
probably benign |
Het |
Sstr4 |
A |
G |
2: 148,238,279 (GRCm39) |
S297G |
probably benign |
Het |
Timm8a1 |
C |
T |
X: 133,438,872 (GRCm39) |
E93K |
probably benign |
Het |
Uck1 |
A |
C |
2: 32,148,367 (GRCm39) |
Y150D |
probably damaging |
Het |
Yipf4 |
A |
G |
17: 74,805,300 (GRCm39) |
|
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 |
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 |
R6599:Acbd5
|
UTSW |
2 |
22,959,092 (GRCm39) |
start gained |
probably benign |
|
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 |
PCR Primer
(F):5'- ACCACATTTGAGCGAAGGACCCAAG -3'
(R):5'- GGCACCCATCTTTTAAGCCAGTCTC -3'
Sequencing Primer
(F):5'- CCCAAGGGTCGGCAAGTAG -3'
(R):5'- AGCCAGTCTCTTCTTAAACAATATG -3'
|
Posted On |
2014-03-14 |