Incidental Mutation 'R8267:Abcf2'
| ID |
639577 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcf2
|
| Ensembl Gene |
ENSMUSG00000028953 |
| Gene Name |
ATP-binding cassette, sub-family F member 2 |
| Synonyms |
0710005O05Rik, Drr3 |
| MMRRC Submission |
067651-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.297)
|
| Stock # |
R8267 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
24770343-24782465 bp(-) (GRCm39) |
| Type of Mutation |
small insertion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
CAT to CATAAT
at 24781589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030795
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030795]
|
| AlphaFold |
Q99LE6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030795
|
| SMART Domains |
Protein: ENSMUSP00000030795
Gene: ENSMUSG00000028953
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd3 |
A |
G |
1: 180,574,413 (GRCm39) |
D379G |
probably damaging |
Het |
| Akp3 |
A |
T |
1: 87,055,461 (GRCm39) |
T503S |
unknown |
Het |
| Antxr2 |
T |
A |
5: 98,113,621 (GRCm39) |
|
probably null |
Het |
| Col9a1 |
A |
T |
1: 24,224,267 (GRCm39) |
T150S |
unknown |
Het |
| Coro1c |
T |
C |
5: 113,985,636 (GRCm39) |
D287G |
probably damaging |
Het |
| Cox16 |
T |
C |
12: 81,527,713 (GRCm39) |
T45A |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,311,853 (GRCm39) |
L1161P |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,518,045 (GRCm39) |
T1311A |
probably benign |
Het |
| Dop1a |
C |
T |
9: 86,396,054 (GRCm39) |
P839S |
possibly damaging |
Het |
| Ehbp1 |
T |
A |
11: 22,096,562 (GRCm39) |
D334V |
probably benign |
Het |
| H2-T15 |
A |
G |
17: 36,367,675 (GRCm39) |
V221A |
possibly damaging |
Het |
| Hip1 |
A |
T |
5: 135,457,467 (GRCm39) |
Y720N |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,735,005 (GRCm39) |
F169S |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,349,191 (GRCm39) |
T4977A |
probably benign |
Het |
| Kcnq5 |
A |
T |
1: 21,575,609 (GRCm39) |
I279N |
probably damaging |
Het |
| Lnx2 |
A |
T |
5: 146,965,901 (GRCm39) |
I406N |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,742,485 (GRCm39) |
Y3908H |
possibly damaging |
Het |
| Nme7 |
A |
G |
1: 164,168,344 (GRCm39) |
I128V |
probably benign |
Het |
| Optn |
T |
C |
2: 5,059,462 (GRCm39) |
T19A |
probably benign |
Het |
| Or10g1b |
A |
G |
14: 52,627,903 (GRCm39) |
F109S |
probably damaging |
Het |
| Or4k37 |
A |
G |
2: 111,159,160 (GRCm39) |
Y132C |
probably benign |
Het |
| Pmch |
A |
T |
10: 87,926,979 (GRCm39) |
|
probably benign |
Het |
| Rbms3 |
T |
C |
9: 116,885,823 (GRCm39) |
N141D |
possibly damaging |
Het |
| Reln |
A |
G |
5: 22,209,110 (GRCm39) |
L1156P |
probably damaging |
Het |
| Rgs6 |
A |
C |
12: 82,698,669 (GRCm39) |
M23L |
probably benign |
Het |
| Sh3tc1 |
T |
C |
5: 35,863,751 (GRCm39) |
Y812C |
probably benign |
Het |
| Smap1 |
T |
A |
1: 23,905,365 (GRCm39) |
K143I |
probably damaging |
Het |
| Thbs1 |
A |
T |
2: 117,952,994 (GRCm39) |
H868L |
probably damaging |
Het |
| Tnip3 |
T |
G |
6: 65,582,826 (GRCm39) |
V140G |
possibly damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,742,752 (GRCm39) |
C375* |
probably null |
Het |
| Vmn2r19 |
T |
C |
6: 123,313,221 (GRCm39) |
S764P |
possibly damaging |
Het |
| Vmn2r22 |
T |
C |
6: 123,615,000 (GRCm39) |
T197A |
possibly damaging |
Het |
| Vmn2r59 |
T |
G |
7: 41,661,521 (GRCm39) |
T765P |
probably damaging |
Het |
| Vmn2r71 |
A |
G |
7: 85,264,704 (GRCm39) |
K12R |
probably benign |
Het |
| Vps41 |
T |
C |
13: 18,994,641 (GRCm39) |
S163P |
probably benign |
Het |
| Wdr97 |
C |
T |
15: 76,240,794 (GRCm39) |
A494V |
|
Het |
| Zfp382 |
G |
C |
7: 29,833,929 (GRCm39) |
G527R |
probably damaging |
Het |
|
| Other mutations in Abcf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00579:Abcf2
|
APN |
5 |
24,773,794 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAACTCCCATCTGTGTTTGCC -3'
(R):5'- GGATGGGATAGCACTCAGAC -3'
Sequencing Primer
(F):5'- GGTGTCACCAAAAAGTTTCATGGC -3'
(R):5'- GGATAGCACTCAGACATTCTTACCTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation