Incidental Mutation 'IGL02343:Acbd5'
| ID |
289200 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acbd5
|
| Ensembl Gene |
ENSMUSG00000026781 |
| Gene Name |
acyl-Coenzyme A binding domain containing 5 |
| Synonyms |
1300014E15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02343
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
22958189-23004525 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22977507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 168
(N168K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110175
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028121]
[ENSMUST00000114523]
[ENSMUST00000114526]
[ENSMUST00000114529]
[ENSMUST00000155602]
[ENSMUST00000226571]
[ENSMUST00000227663]
[ENSMUST00000227809]
[ENSMUST00000228050]
|
| AlphaFold |
Q5XG73 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028121
AA Change: N132K
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000028121
Gene: ENSMUSG00000026781
AA Change: N132K
| 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 |
possibly damaging
Transcript: ENSMUST00000114523
AA Change: N132K
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110169
Gene: ENSMUSG00000026781
AA Change: N132K
| 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
AA Change: N168K
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000110172
Gene: ENSMUSG00000026781
AA Change: N168K
| 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 |
possibly damaging
Transcript: ENSMUST00000114529
AA Change: N168K
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110175
Gene: ENSMUSG00000026781
AA Change: N168K
| 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: ENSMUST00000155602
AA Change: N143K
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000117325
Gene: ENSMUSG00000026781
AA Change: N143K
| 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
AA Change: N179K
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227663
AA Change: N143K
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227809
AA Change: N132K
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228050
AA Change: N179K
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227816
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228856
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aig1 |
T |
C |
10: 13,744,418 (GRCm39) |
M29V |
probably damaging |
Het |
| Albfm1 |
C |
A |
5: 90,727,473 (GRCm39) |
H364N |
probably damaging |
Het |
| Apba2 |
A |
G |
7: 64,344,894 (GRCm39) |
E28G |
probably damaging |
Het |
| Bglap3 |
T |
C |
3: 88,276,423 (GRCm39) |
N45S |
possibly damaging |
Het |
| Cables2 |
A |
G |
2: 179,902,072 (GRCm39) |
|
probably null |
Het |
| Cd109 |
A |
G |
9: 78,596,237 (GRCm39) |
|
probably benign |
Het |
| Cdk1 |
T |
C |
10: 69,176,331 (GRCm39) |
N259D |
probably benign |
Het |
| Ces1h |
A |
G |
8: 94,078,654 (GRCm39) |
*563R |
probably null |
Het |
| Cfap46 |
C |
T |
7: 139,262,425 (GRCm39) |
A115T |
probably damaging |
Het |
| Cry2 |
A |
T |
2: 92,257,266 (GRCm39) |
V101E |
possibly damaging |
Het |
| Cyp4a31 |
A |
G |
4: 115,421,026 (GRCm39) |
Y38C |
probably damaging |
Het |
| Dip2a |
T |
C |
10: 76,155,312 (GRCm39) |
Y130C |
probably benign |
Het |
| Eps8l1 |
A |
G |
7: 4,475,123 (GRCm39) |
T366A |
probably benign |
Het |
| Esr2 |
C |
T |
12: 76,192,119 (GRCm39) |
R303H |
probably benign |
Het |
| Fbxo41 |
T |
G |
6: 85,455,153 (GRCm39) |
L617F |
possibly damaging |
Het |
| Fbxw15 |
A |
T |
9: 109,381,723 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
T |
A |
10: 103,070,024 (GRCm39) |
|
probably benign |
Het |
| Me1 |
A |
T |
9: 86,536,694 (GRCm39) |
|
probably null |
Het |
| Moxd1 |
G |
A |
10: 24,155,762 (GRCm39) |
V289I |
probably damaging |
Het |
| Muc19 |
T |
G |
15: 91,778,428 (GRCm39) |
|
noncoding transcript |
Het |
| Myo15b |
A |
G |
11: 115,764,226 (GRCm39) |
|
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,382,490 (GRCm39) |
L1264* |
probably null |
Het |
| Nhlrc4 |
T |
C |
17: 26,162,335 (GRCm39) |
*137W |
probably null |
Het |
| Nrxn3 |
A |
G |
12: 88,762,123 (GRCm39) |
T57A |
probably damaging |
Het |
| Or10g3 |
T |
A |
14: 52,609,934 (GRCm39) |
D192V |
probably damaging |
Het |
| Orc2 |
A |
T |
1: 58,508,825 (GRCm39) |
|
probably null |
Het |
| Rpap2 |
G |
A |
5: 107,766,047 (GRCm39) |
|
probably null |
Het |
| S100a9 |
T |
C |
3: 90,602,531 (GRCm39) |
H21R |
probably damaging |
Het |
| Spz1 |
T |
A |
13: 92,712,054 (GRCm39) |
M141L |
probably benign |
Het |
| Stk40 |
A |
G |
4: 126,030,695 (GRCm39) |
Y305C |
probably damaging |
Het |
| Stra6l |
A |
G |
4: 45,869,588 (GRCm39) |
Q218R |
probably damaging |
Het |
| T |
C |
A |
17: 8,658,732 (GRCm39) |
|
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,066,704 (GRCm39) |
D2298G |
probably damaging |
Het |
| Trim40 |
A |
T |
17: 37,200,030 (GRCm39) |
L16Q |
probably benign |
Het |
| Tubb4a |
T |
C |
17: 57,388,538 (GRCm39) |
I163V |
probably benign |
Het |
| Vwc2 |
T |
A |
11: 11,066,532 (GRCm39) |
C207S |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,227,849 (GRCm39) |
I1920T |
possibly damaging |
Het |
| Zfp429 |
T |
C |
13: 67,538,844 (GRCm39) |
E200G |
probably damaging |
Het |
| Zfp451 |
C |
T |
1: 33,815,574 (GRCm39) |
C792Y |
probably damaging |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation