Incidental Mutation 'IGL00579:Abcf2'
| ID |
6473 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Abcf2
|
| Ensembl Gene |
ENSMUSG00000028953 |
| Gene Name |
ATP-binding cassette, sub-family F member 2 |
| Synonyms |
0710005O05Rik, Drr3 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.297)
|
| Stock # |
IGL00579
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
24770343-24782465 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24773794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 365
(E365G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030795
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030795]
|
| AlphaFold |
Q99LE6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030795
AA Change: E365G
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000030795
Gene: ENSMUSG00000028953
AA Change: E365G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
|
AAA
|
115 |
308 |
1.6e-6 |
SMART |
|
AAA
|
427 |
595 |
6.32e-5 |
SMART |
|
| 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 ATP-binding cassette (ABC) transporter superfamily. ATP-binding casette proteins transport various molecules across extra- and intracellular membranes. Alterations in this gene may be involved in cancer progression. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 3 and 7. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
T |
C |
15: 11,152,100 (GRCm39) |
Y197H |
probably benign |
Het |
| Cept1 |
A |
T |
3: 106,413,119 (GRCm39) |
V202E |
possibly damaging |
Het |
| Cfap53 |
A |
T |
18: 74,438,611 (GRCm39) |
K263* |
probably null |
Het |
| Dennd3 |
T |
C |
15: 73,412,691 (GRCm39) |
I451T |
possibly damaging |
Het |
| Dync2h1 |
A |
C |
9: 7,035,728 (GRCm39) |
|
probably benign |
Het |
| Egf |
T |
A |
3: 129,491,447 (GRCm39) |
H850L |
probably benign |
Het |
| Gm11595 |
T |
C |
11: 99,662,868 (GRCm39) |
T271A |
unknown |
Het |
| Gorab |
T |
C |
1: 163,222,256 (GRCm39) |
E142G |
probably damaging |
Het |
| Gpat4 |
A |
G |
8: 23,672,791 (GRCm39) |
S20P |
probably damaging |
Het |
| Gpr83 |
T |
C |
9: 14,771,897 (GRCm39) |
V23A |
probably benign |
Het |
| Il13ra2 |
A |
G |
X: 146,177,386 (GRCm39) |
Y146H |
probably damaging |
Het |
| Kcnj16 |
C |
T |
11: 110,916,034 (GRCm39) |
T232M |
probably benign |
Het |
| Mdfic |
A |
T |
6: 15,741,073 (GRCm39) |
I61F |
possibly damaging |
Het |
| Mmp3 |
G |
T |
9: 7,445,894 (GRCm39) |
|
probably benign |
Het |
| Olr1 |
C |
T |
6: 129,470,486 (GRCm39) |
R227K |
probably benign |
Het |
| Otof |
T |
A |
5: 30,556,666 (GRCm39) |
I257F |
possibly damaging |
Het |
| Oxsr1 |
T |
A |
9: 119,088,277 (GRCm39) |
R43S |
probably damaging |
Het |
| Pacc1 |
T |
C |
1: 191,060,405 (GRCm39) |
V21A |
unknown |
Het |
| Prkdc |
A |
G |
16: 15,482,103 (GRCm39) |
D382G |
probably damaging |
Het |
| Slc35b2 |
G |
T |
17: 45,875,886 (GRCm39) |
V81L |
probably damaging |
Het |
| Thumpd3 |
G |
A |
6: 113,024,622 (GRCm39) |
R72H |
possibly damaging |
Het |
| Tsga10 |
G |
A |
1: 37,874,534 (GRCm39) |
T117I |
probably damaging |
Het |
| Vps13a |
T |
A |
19: 16,684,726 (GRCm39) |
T953S |
probably benign |
Het |
| Wdr62 |
A |
C |
7: 29,967,320 (GRCm39) |
C311W |
probably damaging |
Het |
| Wdr74 |
A |
G |
19: 8,716,830 (GRCm39) |
T247A |
possibly damaging |
Het |
| Zbtb26 |
A |
T |
2: 37,326,454 (GRCm39) |
V194D |
possibly damaging |
Het |
| Zfp639 |
A |
T |
3: 32,574,626 (GRCm39) |
E417V |
probably damaging |
Het |
|
| Other mutations in Abcf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02867:Abcf2
|
APN |
5 |
24,776,149 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03325:Abcf2
|
APN |
5 |
24,779,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03329:Abcf2
|
APN |
5 |
24,776,246 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0281:Abcf2
|
UTSW |
5 |
24,771,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0357:Abcf2
|
UTSW |
5 |
24,778,463 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0815:Abcf2
|
UTSW |
5 |
24,772,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0835:Abcf2
|
UTSW |
5 |
24,779,251 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1793:Abcf2
|
UTSW |
5 |
24,773,774 (GRCm39) |
missense |
probably benign |
|
|
R2321:Abcf2
|
UTSW |
5 |
24,772,251 (GRCm39) |
nonsense |
probably null |
|
|
R5006:Abcf2
|
UTSW |
5 |
24,781,535 (GRCm39) |
nonsense |
probably null |
|
|
R5765:Abcf2
|
UTSW |
5 |
24,778,421 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6317:Abcf2
|
UTSW |
5 |
24,774,156 (GRCm39) |
nonsense |
probably null |
|
|
R6684:Abcf2
|
UTSW |
5 |
24,774,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6906:Abcf2
|
UTSW |
5 |
24,773,840 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6980:Abcf2
|
UTSW |
5 |
24,770,970 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8266:Abcf2
|
UTSW |
5 |
24,781,589 (GRCm39) |
small insertion |
probably benign |
|
|
R8267:Abcf2
|
UTSW |
5 |
24,781,589 (GRCm39) |
small insertion |
probably benign |
|
|
R8290:Abcf2
|
UTSW |
5 |
24,781,589 (GRCm39) |
small insertion |
probably benign |
|
|
R8294:Abcf2
|
UTSW |
5 |
24,781,589 (GRCm39) |
small insertion |
probably benign |
|
|
R8295:Abcf2
|
UTSW |
5 |
24,781,589 (GRCm39) |
small insertion |
probably benign |
|
|
R8446:Abcf2
|
UTSW |
5 |
24,771,641 (GRCm39) |
nonsense |
probably null |
|
|
R9038:Abcf2
|
UTSW |
5 |
24,776,191 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9061:Abcf2
|
UTSW |
5 |
24,778,504 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9342:Abcf2
|
UTSW |
5 |
24,778,475 (GRCm39) |
missense |
probably benign |
|
|
R9478:Abcf2
|
UTSW |
5 |
24,770,940 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9518:Abcf2
|
UTSW |
5 |
24,771,560 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9667:Abcf2
|
UTSW |
5 |
24,779,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation