Incidental Mutation 'R6684:Abcf2'
| ID |
527610 |
| 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 |
044803-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.297)
|
| Stock # |
R6684 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
24770343-24782465 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 24774137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 322
(R322W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030795
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030795]
|
| AlphaFold |
Q99LE6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030795
AA Change: R322W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030795
Gene: ENSMUSG00000028953
AA Change: R322W
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
94% (33/35) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Capns1 |
C |
A |
7: 29,893,324 (GRCm39) |
G63V |
probably damaging |
Het |
| Carmil1 |
G |
A |
13: 24,206,525 (GRCm39) |
T5M |
unknown |
Het |
| Cr2 |
T |
A |
1: 194,853,329 (GRCm39) |
K70* |
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,908,708 (GRCm39) |
I1107N |
probably damaging |
Het |
| Ehd4 |
A |
G |
2: 119,984,815 (GRCm39) |
F48L |
probably damaging |
Het |
| Fam221a |
G |
T |
6: 49,349,542 (GRCm39) |
E36* |
probably null |
Het |
| Fam81b |
G |
A |
13: 76,350,157 (GRCm39) |
Q423* |
probably null |
Het |
| Galnt7 |
C |
T |
8: 57,991,143 (GRCm39) |
V456I |
probably benign |
Het |
| Gm10801 |
C |
CGTA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Hrc |
A |
G |
7: 44,985,956 (GRCm39) |
H369R |
possibly damaging |
Het |
| Impg2 |
T |
G |
16: 56,080,292 (GRCm39) |
S590A |
probably benign |
Het |
| Lcn3 |
A |
T |
2: 25,656,170 (GRCm39) |
H75L |
probably benign |
Het |
| Lims1 |
T |
A |
10: 58,234,835 (GRCm39) |
|
probably null |
Het |
| Lkaaear1 |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
2: 181,339,354 (GRCm39) |
|
probably benign |
Het |
| Or5p79 |
A |
G |
7: 108,221,141 (GRCm39) |
T41A |
probably damaging |
Het |
| Orai3 |
A |
G |
7: 127,372,892 (GRCm39) |
N131S |
probably damaging |
Het |
| Pcdhga7 |
T |
C |
18: 37,849,103 (GRCm39) |
L370P |
probably damaging |
Het |
| Phtf2 |
A |
G |
5: 21,017,937 (GRCm39) |
|
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,323,071 (GRCm39) |
Y709H |
probably damaging |
Het |
| Pmfbp1 |
T |
C |
8: 110,262,462 (GRCm39) |
S719P |
probably benign |
Het |
| Polr3g |
A |
T |
13: 81,847,650 (GRCm39) |
|
probably null |
Het |
| Ppp4r1 |
G |
A |
17: 66,131,337 (GRCm39) |
A360T |
probably benign |
Het |
| Pramel6 |
T |
C |
2: 87,339,748 (GRCm39) |
W171R |
probably damaging |
Het |
| Rad54b |
T |
C |
4: 11,583,689 (GRCm39) |
|
probably benign |
Het |
| Rasl10a |
G |
A |
11: 5,008,396 (GRCm39) |
E31K |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,583,433 (GRCm39) |
R2813G |
probably damaging |
Het |
| Tmem71 |
A |
G |
15: 66,413,539 (GRCm39) |
S178P |
possibly damaging |
Het |
| Trim58 |
A |
G |
11: 58,542,446 (GRCm39) |
T469A |
probably benign |
Het |
| Vash1 |
A |
G |
12: 86,735,683 (GRCm39) |
T190A |
probably damaging |
Het |
| Ythdc2 |
T |
C |
18: 45,006,136 (GRCm39) |
S1210P |
possibly damaging |
Het |
| Zfp42 |
G |
A |
8: 43,749,093 (GRCm39) |
T136M |
possibly damaging |
Het |
| Zfp595 |
T |
C |
13: 67,468,341 (GRCm39) |
Y72C |
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 |
|
|
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'- ACAGCAGCAAGTGAACCCTG -3'
(R):5'- AAGCCATGTCCTAGGTTCCAC -3'
Sequencing Primer
(F):5'- TGAACCCTGGAGTAAGGAGC -3'
(R):5'- TAGCAGGTTCTATTAGCAAGAGC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation