Incidental Mutation 'R5006:Abcf2'
| ID |
390162 |
| Institutional Source |
Beutler Lab
|
| 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: 0.251)
|
| Stock # |
R5006 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
24770343-24782465 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 24781535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 51
(E51*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030795
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030795]
|
| AlphaFold |
Q99LE6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030795
AA Change: E51*
|
| SMART Domains |
Protein: ENSMUSP00000030795
Gene: ENSMUSG00000028953
AA Change: E51*
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl11a |
T |
A |
11: 24,114,989 (GRCm39) |
Y777* |
probably null |
Het |
| C2cd4c |
T |
A |
10: 79,448,341 (GRCm39) |
T269S |
probably benign |
Het |
| Ciao2a |
G |
A |
9: 66,043,634 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
T |
A |
11: 104,620,503 (GRCm39) |
|
probably null |
Het |
| Foxp1 |
A |
C |
6: 99,139,819 (GRCm39) |
V54G |
probably damaging |
Het |
| Il2ra |
T |
G |
2: 11,679,157 (GRCm39) |
L39R |
possibly damaging |
Het |
| Klk1b9 |
A |
T |
7: 43,628,711 (GRCm39) |
K72* |
probably null |
Het |
| Lmo7 |
A |
G |
14: 102,163,673 (GRCm39) |
|
probably benign |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Nebl |
T |
A |
2: 17,393,582 (GRCm39) |
|
probably null |
Het |
| Or6b6 |
C |
T |
7: 106,570,808 (GRCm39) |
V248I |
probably damaging |
Het |
| Or7e169 |
G |
T |
9: 19,757,567 (GRCm39) |
A116E |
probably benign |
Het |
| Or7g30 |
A |
G |
9: 19,352,545 (GRCm39) |
N112S |
probably benign |
Het |
| Ralgapa1 |
A |
T |
12: 55,764,899 (GRCm39) |
C918S |
probably benign |
Het |
| Rasd2 |
G |
T |
8: 75,945,234 (GRCm39) |
R21L |
probably damaging |
Het |
| Sema4a |
A |
G |
3: 88,344,091 (GRCm39) |
M720T |
probably benign |
Het |
| Susd3 |
A |
G |
13: 49,392,181 (GRCm39) |
|
probably benign |
Het |
| Vmn1r235 |
T |
C |
17: 21,482,467 (GRCm39) |
M264T |
probably benign |
Het |
| Wls |
A |
G |
3: 159,617,428 (GRCm39) |
I368V |
possibly damaging |
Het |
| Ypel4 |
A |
G |
2: 84,567,182 (GRCm39) |
D5G |
probably benign |
Het |
| Zbtb38 |
C |
T |
9: 96,567,704 (GRCm39) |
G1127S |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGTTTGCCACTTGAATTCAG -3'
(R):5'- AACTACCCCTGTGGCTCATC -3'
Sequencing Primer
(F):5'- GGTGTCACCAAAAAGTTTCATGGC -3'
(R):5'- GTGGCTCATCACCATGCC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation