Incidental Mutation 'R1352:Acbd3'
| ID |
156687 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acbd3
|
| Ensembl Gene |
ENSMUSG00000026499 |
| Gene Name |
acyl-Coenzyme A binding domain containing 3 |
| Synonyms |
Pap7, 8430407O11Rik, D1Ertd10e, Gocap1 |
| MMRRC Submission |
039417-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1352 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
180553608-180581769 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 180566095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 263
(Y263N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027780
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027780]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027780
AA Change: Y263N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027780
Gene: ENSMUSG00000026499
AA Change: Y263N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
74 |
N/A |
INTRINSIC |
|
Pfam:ACBP
|
81 |
167 |
3.2e-18 |
PFAM |
|
coiled coil region
|
173 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
268 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
346 |
356 |
N/A |
INTRINSIC |
|
Pfam:GOLD_2
|
394 |
524 |
2.5e-73 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192420
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192748
|
| Meta Mutation Damage Score |
0.1657 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.5%
|
| Validation Efficiency |
95% (42/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is involved in the maintenance of Golgi structure and function through its interaction with the integral membrane protein giantin. It may also be involved in the hormonal regulation of steroid formation. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
G |
7: 45,784,892 (GRCm39) |
|
probably benign |
Het |
| Aldh4a1 |
T |
C |
4: 139,362,830 (GRCm39) |
V142A |
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cass4 |
T |
C |
2: 172,258,415 (GRCm39) |
S138P |
probably damaging |
Het |
| Cbln4 |
T |
C |
2: 171,879,376 (GRCm39) |
K171E |
possibly damaging |
Het |
| Cd226 |
A |
G |
18: 89,265,298 (GRCm39) |
Y79C |
probably damaging |
Het |
| Dclre1a |
T |
C |
19: 56,533,595 (GRCm39) |
D333G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,268,329 (GRCm39) |
|
probably null |
Het |
| Eml5 |
A |
G |
12: 98,797,262 (GRCm39) |
|
probably benign |
Het |
| Evx1 |
T |
C |
6: 52,293,995 (GRCm39) |
S388P |
probably damaging |
Het |
| Gins1 |
T |
A |
2: 150,772,768 (GRCm39) |
L177* |
probably null |
Het |
| Gm5422 |
A |
C |
10: 31,126,731 (GRCm39) |
|
noncoding transcript |
Het |
| Gmppa |
T |
A |
1: 75,417,178 (GRCm39) |
D204E |
probably benign |
Het |
| Ifna7 |
A |
C |
4: 88,734,897 (GRCm39) |
T145P |
possibly damaging |
Het |
| Inhbb |
T |
C |
1: 119,348,425 (GRCm39) |
D131G |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,013,240 (GRCm39) |
K2679E |
probably damaging |
Het |
| Kif20b |
C |
A |
19: 34,902,035 (GRCm39) |
H4N |
probably benign |
Het |
| Kng1 |
G |
T |
16: 22,886,444 (GRCm39) |
|
probably null |
Het |
| Lrrfip1 |
C |
T |
1: 91,043,089 (GRCm39) |
A498V |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,328,486 (GRCm39) |
|
probably null |
Het |
| Nkapl |
T |
C |
13: 21,652,230 (GRCm39) |
R128G |
unknown |
Het |
| Or51v8 |
T |
C |
7: 103,319,518 (GRCm39) |
H240R |
probably damaging |
Het |
| Or5bw2 |
A |
T |
7: 6,573,782 (GRCm39) |
Y264F |
probably benign |
Het |
| Prlr |
T |
C |
15: 10,328,872 (GRCm39) |
V449A |
probably benign |
Het |
| Rbm44 |
C |
A |
1: 91,080,764 (GRCm39) |
D317E |
probably damaging |
Het |
| Sirt5 |
T |
C |
13: 43,548,283 (GRCm39) |
S310P |
probably damaging |
Het |
| Spice1 |
T |
C |
16: 44,207,185 (GRCm39) |
S856P |
probably damaging |
Het |
| Sptan1 |
T |
A |
2: 29,911,199 (GRCm39) |
|
probably benign |
Het |
| St6gal1 |
A |
G |
16: 23,140,401 (GRCm39) |
K191E |
probably damaging |
Het |
| Stat6 |
A |
T |
10: 127,486,680 (GRCm39) |
Q152L |
probably benign |
Het |
| Stk3 |
T |
C |
15: 35,008,371 (GRCm39) |
D253G |
probably damaging |
Het |
| Tas2r139 |
C |
T |
6: 42,117,874 (GRCm39) |
A2V |
probably benign |
Het |
| Tfpi2 |
A |
G |
6: 3,968,281 (GRCm39) |
L15P |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,224,207 (GRCm39) |
C1445S |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,978,081 (GRCm39) |
H195Q |
possibly damaging |
Het |
| Ttc21a |
A |
T |
9: 119,783,718 (GRCm39) |
E600V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,677,041 (GRCm39) |
|
probably benign |
Het |
| Vmn2r88 |
T |
C |
14: 51,656,007 (GRCm39) |
S740P |
probably damaging |
Het |
| Wrn |
A |
C |
8: 33,784,944 (GRCm39) |
V476G |
probably benign |
Het |
| Zdbf2 |
C |
A |
1: 63,342,212 (GRCm39) |
A197E |
probably damaging |
Het |
|
| Other mutations in Acbd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03215:Acbd3
|
APN |
1 |
180,572,670 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0321:Acbd3
|
UTSW |
1 |
180,579,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0365:Acbd3
|
UTSW |
1 |
180,566,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0524:Acbd3
|
UTSW |
1 |
180,574,624 (GRCm39) |
small deletion |
probably benign |
|
|
R0733:Acbd3
|
UTSW |
1 |
180,579,783 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0884:Acbd3
|
UTSW |
1 |
180,574,624 (GRCm39) |
small deletion |
probably benign |
|
|
R1074:Acbd3
|
UTSW |
1 |
180,566,113 (GRCm39) |
nonsense |
probably null |
|
|
R1327:Acbd3
|
UTSW |
1 |
180,560,748 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1820:Acbd3
|
UTSW |
1 |
180,572,703 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4697:Acbd3
|
UTSW |
1 |
180,549,509 (GRCm39) |
unclassified |
probably benign |
|
|
R5187:Acbd3
|
UTSW |
1 |
180,564,297 (GRCm39) |
nonsense |
probably null |
|
|
R5217:Acbd3
|
UTSW |
1 |
180,553,938 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5368:Acbd3
|
UTSW |
1 |
180,549,660 (GRCm39) |
unclassified |
probably benign |
|
|
R6018:Acbd3
|
UTSW |
1 |
180,579,903 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7072:Acbd3
|
UTSW |
1 |
180,553,934 (GRCm39) |
missense |
probably benign |
|
|
R7366:Acbd3
|
UTSW |
1 |
180,562,064 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7952:Acbd3
|
UTSW |
1 |
180,579,903 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8260:Acbd3
|
UTSW |
1 |
180,566,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8267:Acbd3
|
UTSW |
1 |
180,574,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8327:Acbd3
|
UTSW |
1 |
180,566,158 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8356:Acbd3
|
UTSW |
1 |
180,553,881 (GRCm39) |
missense |
probably benign |
|
|
R8848:Acbd3
|
UTSW |
1 |
180,562,084 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9483:Acbd3
|
UTSW |
1 |
180,572,721 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9681:Acbd3
|
UTSW |
1 |
180,566,082 (GRCm39) |
nonsense |
probably null |
|
|
X0027:Acbd3
|
UTSW |
1 |
180,574,595 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCAGTCTGTGTCTCACACCATC -3'
(R):5'- TCCAGGGAAATGCAGTGCCTTC -3'
Sequencing Primer
(F):5'- gacacatcaaaggagcacag -3'
(R):5'- TACTGCTGATAGTGCTGCTC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation