Incidental Mutation 'R0697:A1cf'
| ID |
63908 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A1cf
|
| Ensembl Gene |
ENSMUSG00000052595 |
| Gene Name |
APOBEC1 complementation factor |
| Synonyms |
1810073H04Rik, apobec-1 complementation factor, ACF |
| MMRRC Submission |
038881-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R0697 (G1)
|
| Quality Score |
100 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
31846164-31926395 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 31888567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 99
(A99E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153465
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075838]
[ENSMUST00000224304]
[ENSMUST00000224400]
[ENSMUST00000224564]
|
| AlphaFold |
Q5YD48 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075838
AA Change: A99E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075235
Gene: ENSMUSG00000052595
AA Change: A99E
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
57 |
130 |
2.13e-18 |
SMART |
|
RRM
|
137 |
214 |
1.59e-8 |
SMART |
|
RRM
|
232 |
299 |
1.36e-16 |
SMART |
|
low complexity region
|
386 |
411 |
N/A |
INTRINSIC |
|
Pfam:DND1_DSRM
|
445 |
523 |
1.6e-30 |
PFAM |
|
low complexity region
|
526 |
542 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224304
AA Change: A99E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224400
AA Change: A15E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224564
AA Change: A99E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224809
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225165
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian apolipoprotein B mRNA undergoes site-specific C to U deamination, which is mediated by a multi-component enzyme complex containing a minimal core composed of APOBEC-1 and a complementation factor encoded by this gene. The gene product has three non-identical RNA recognition motifs and belongs to the hnRNP R family of RNA-binding proteins. It has been proposed that this complementation factor functions as an RNA-binding subunit and docks APOBEC-1 to deaminate the upstream cytidine. Studies suggest that the protein may also be involved in other RNA editing or RNA processing events. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Embryos homozygous for a targeted deletion of this gene are detectable only until the blastocyst stage (E3.5) and isolated mutant blastocysts fail to proliferate in vitro. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aig1 |
T |
C |
10: 13,705,069 (GRCm39) |
N72S |
probably benign |
Het |
| Atad2 |
T |
C |
15: 57,968,939 (GRCm39) |
I857M |
possibly damaging |
Het |
| Ceacam15 |
A |
C |
7: 16,407,445 (GRCm39) |
L24* |
probably null |
Het |
| Cpsf2 |
A |
G |
12: 101,949,443 (GRCm39) |
H53R |
probably benign |
Het |
| Crh |
C |
A |
3: 19,748,241 (GRCm39) |
G134C |
probably damaging |
Het |
| Cyp2g1 |
A |
T |
7: 26,514,152 (GRCm39) |
K253* |
probably null |
Het |
| Dna2 |
T |
C |
10: 62,785,120 (GRCm39) |
V79A |
probably benign |
Het |
| Dsc2 |
A |
G |
18: 20,174,509 (GRCm39) |
V549A |
probably damaging |
Het |
| Etl4 |
G |
T |
2: 20,748,672 (GRCm39) |
V135F |
probably damaging |
Het |
| Frk |
A |
G |
10: 34,483,833 (GRCm39) |
H398R |
probably benign |
Het |
| Gfra1 |
A |
C |
19: 58,258,555 (GRCm39) |
S271A |
probably benign |
Het |
| Htr1b |
T |
C |
9: 81,513,516 (GRCm39) |
I364V |
possibly damaging |
Het |
| Kcnh5 |
A |
T |
12: 75,023,305 (GRCm39) |
C588S |
possibly damaging |
Het |
| Kif13a |
G |
A |
13: 47,001,813 (GRCm39) |
T70I |
probably benign |
Het |
| Klra6 |
T |
C |
6: 129,993,687 (GRCm39) |
I195V |
probably benign |
Het |
| Nras |
T |
C |
3: 102,967,616 (GRCm39) |
Y71H |
possibly damaging |
Het |
| Sirt5 |
T |
C |
13: 43,539,052 (GRCm39) |
F274L |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,757,503 (GRCm39) |
T882A |
probably benign |
Het |
| Vmn1r84 |
A |
T |
7: 12,096,690 (GRCm39) |
M1K |
probably null |
Het |
| Zfhx4 |
A |
T |
3: 5,466,793 (GRCm39) |
E2317V |
probably damaging |
Het |
| Zfp345 |
A |
T |
2: 150,314,829 (GRCm39) |
I236K |
probably benign |
Het |
|
| Other mutations in A1cf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01330:A1cf
|
APN |
19 |
31,898,351 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01411:A1cf
|
APN |
19 |
31,888,629 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01445:A1cf
|
APN |
19 |
31,923,198 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02165:A1cf
|
APN |
19 |
31,904,586 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02543:A1cf
|
APN |
19 |
31,895,495 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02651:A1cf
|
APN |
19 |
31,909,906 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02904:A1cf
|
APN |
19 |
31,912,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Haywire
|
UTSW |
19 |
31,895,524 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0281:A1cf
|
UTSW |
19 |
31,923,214 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0349:A1cf
|
UTSW |
19 |
31,910,062 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0662:A1cf
|
UTSW |
19 |
31,898,338 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1055:A1cf
|
UTSW |
19 |
31,909,919 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1125:A1cf
|
UTSW |
19 |
31,898,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1448:A1cf
|
UTSW |
19 |
31,886,196 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1554:A1cf
|
UTSW |
19 |
31,886,302 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1616:A1cf
|
UTSW |
19 |
31,912,175 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1660:A1cf
|
UTSW |
19 |
31,870,507 (GRCm39) |
nonsense |
probably null |
|
|
R1719:A1cf
|
UTSW |
19 |
31,904,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2338:A1cf
|
UTSW |
19 |
31,909,945 (GRCm39) |
missense |
probably benign |
|
|
R2435:A1cf
|
UTSW |
19 |
31,898,294 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2890:A1cf
|
UTSW |
19 |
31,895,417 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3688:A1cf
|
UTSW |
19 |
31,888,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4007:A1cf
|
UTSW |
19 |
31,895,524 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4208:A1cf
|
UTSW |
19 |
31,910,060 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4448:A1cf
|
UTSW |
19 |
31,923,262 (GRCm39) |
missense |
probably benign |
|
|
R5072:A1cf
|
UTSW |
19 |
31,895,385 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5491:A1cf
|
UTSW |
19 |
31,895,462 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5636:A1cf
|
UTSW |
19 |
31,922,382 (GRCm39) |
nonsense |
probably null |
|
|
R5932:A1cf
|
UTSW |
19 |
31,870,518 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7066:A1cf
|
UTSW |
19 |
31,904,514 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7211:A1cf
|
UTSW |
19 |
31,904,541 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7413:A1cf
|
UTSW |
19 |
31,895,524 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7545:A1cf
|
UTSW |
19 |
31,912,190 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8020:A1cf
|
UTSW |
19 |
31,870,594 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8344:A1cf
|
UTSW |
19 |
31,888,519 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8497:A1cf
|
UTSW |
19 |
31,923,250 (GRCm39) |
missense |
probably benign |
|
|
R8989:A1cf
|
UTSW |
19 |
31,904,556 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9327:A1cf
|
UTSW |
19 |
31,895,499 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9436:A1cf
|
UTSW |
19 |
31,909,975 (GRCm39) |
missense |
probably benign |
|
|
Z1176:A1cf
|
UTSW |
19 |
31,895,417 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGGATACAAATGCCAAACATGGCAG -3'
(R):5'- TCAAGTAGCATTCTCTCCGCACAATC -3'
Sequencing Primer
(F):5'- tgtttctgtgtgtgtgtgtttc -3'
(R):5'- ACCAGACCGTTTTTAACGAAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation