Incidental Mutation 'R8295:Abcf2'
| ID |
638884 |
| 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 |
067714-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.297)
|
| Stock # |
R8295 (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: 99.7%
- 20x: 99.1%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
G |
7: 119,974,188 (GRCm39) |
I915S |
probably benign |
Het |
| Ahdc1 |
T |
A |
4: 132,788,762 (GRCm39) |
M1K |
probably null |
Het |
| Akr1c12 |
T |
G |
13: 4,322,355 (GRCm39) |
D229A |
probably benign |
Het |
| Ankfn1 |
C |
T |
11: 89,302,923 (GRCm39) |
V32M |
probably benign |
Het |
| C7 |
A |
T |
15: 5,018,327 (GRCm39) |
C839S |
probably damaging |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Ccdc110 |
A |
G |
8: 46,396,416 (GRCm39) |
D769G |
probably damaging |
Het |
| Clk2 |
G |
T |
3: 89,080,766 (GRCm39) |
D251Y |
probably damaging |
Het |
| Dlx1 |
C |
A |
2: 71,362,726 (GRCm39) |
P211Q |
probably benign |
Het |
| Dock8 |
G |
A |
19: 25,100,600 (GRCm39) |
A703T |
probably benign |
Het |
| Eif2d |
T |
A |
1: 131,085,988 (GRCm39) |
L161Q |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Fndc3a |
T |
C |
14: 72,789,959 (GRCm39) |
I1079V |
probably benign |
Het |
| Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
| Gtf3c1 |
A |
G |
7: 125,262,234 (GRCm39) |
V1104A |
probably benign |
Het |
| H2-Ab1 |
A |
T |
17: 34,483,816 (GRCm39) |
Y59F |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,115,914 (GRCm39) |
T772A |
probably damaging |
Het |
| Kcnh4 |
A |
G |
11: 100,640,523 (GRCm39) |
V501A |
probably benign |
Het |
| Ltbp1 |
A |
T |
17: 75,486,184 (GRCm39) |
T70S |
probably benign |
Het |
| Obox2 |
A |
G |
7: 15,131,247 (GRCm39) |
T118A |
probably benign |
Het |
| Or52ab4 |
C |
T |
7: 102,987,474 (GRCm39) |
T71I |
probably benign |
Het |
| Or8k17 |
T |
C |
2: 86,066,916 (GRCm39) |
M88V |
probably benign |
Het |
| Pih1d2 |
C |
T |
9: 50,532,379 (GRCm39) |
H146Y |
probably damaging |
Het |
| Pou2af1 |
C |
T |
9: 51,144,305 (GRCm39) |
S73F |
possibly damaging |
Het |
| Rnase2a |
T |
A |
14: 51,493,096 (GRCm39) |
I90L |
probably benign |
Het |
| S100a16 |
T |
A |
3: 90,449,336 (GRCm39) |
C4S |
probably benign |
Het |
| Sprr1a |
T |
C |
3: 92,391,849 (GRCm39) |
K51E |
possibly damaging |
Het |
| Tmem168 |
A |
T |
6: 13,602,850 (GRCm39) |
M172K |
probably damaging |
Het |
| Tnrc6b |
T |
C |
15: 80,797,565 (GRCm39) |
S1371P |
probably damaging |
Het |
| Trav21-dv12 |
T |
A |
14: 54,113,510 (GRCm39) |
L13* |
probably null |
Het |
| Vmn1r234 |
T |
A |
17: 21,449,101 (GRCm39) |
V5D |
probably benign |
Het |
| Vmn2r18 |
A |
G |
5: 151,508,621 (GRCm39) |
C168R |
probably damaging |
Het |
| Vmn2r90 |
C |
T |
17: 17,948,358 (GRCm39) |
P535S |
probably benign |
Het |
| Zfp595 |
A |
G |
13: 67,464,764 (GRCm39) |
C503R |
possibly 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 |
|
|
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 |
|
|
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'- TGCAGCACCAACCAAGGTAG -3'
(R):5'- GGATGGGATAGCACTCAGAC -3'
Sequencing Primer
(F):5'- GGTGTCACCAAAAAGTTTCATGGC -3'
(R):5'- GGATAGCACTCAGACATTCTTACCTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation