Incidental Mutation 'R0697:A1cf'
ID |
63908 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
A1cf
|
Ensembl Gene |
ENSMUSG00000052595 |
Gene Name |
APOBEC1 complementation factor |
Synonyms |
apobec-1 complementation factor, ACF, 1810073H04Rik |
MMRRC Submission |
038881-MU
|
Accession Numbers |
|
Is this an essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R0697 (G1)
|
Quality Score |
100 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
31868764-31948573 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 31911167 bp (GRCm38)
|
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: 13,829,325 |
N72S |
probably benign |
Het |
Atad2 |
T |
C |
15: 58,105,543 |
I857M |
possibly damaging |
Het |
Ceacam15 |
A |
C |
7: 16,673,520 |
L24* |
probably null |
Het |
Cpsf2 |
A |
G |
12: 101,983,184 |
H53R |
probably benign |
Het |
Crh |
C |
A |
3: 19,694,077 |
G134C |
probably damaging |
Het |
Cyp2g1 |
A |
T |
7: 26,814,727 |
K253* |
probably null |
Het |
Dna2 |
T |
C |
10: 62,949,341 |
V79A |
probably benign |
Het |
Dsc2 |
A |
G |
18: 20,041,452 |
V549A |
probably damaging |
Het |
Etl4 |
G |
T |
2: 20,743,861 |
V135F |
probably damaging |
Het |
Frk |
A |
G |
10: 34,607,837 |
H398R |
probably benign |
Het |
Gfra1 |
A |
C |
19: 58,270,123 |
S271A |
probably benign |
Het |
Htr1b |
T |
C |
9: 81,631,463 |
I364V |
possibly damaging |
Het |
Kcnh5 |
A |
T |
12: 74,976,531 |
C588S |
possibly damaging |
Het |
Kif13a |
G |
A |
13: 46,848,337 |
T70I |
probably benign |
Het |
Klra6 |
T |
C |
6: 130,016,724 |
I195V |
probably benign |
Het |
Nras |
T |
C |
3: 103,060,300 |
Y71H |
possibly damaging |
Het |
Sirt5 |
T |
C |
13: 43,385,576 |
F274L |
probably damaging |
Het |
Synj1 |
T |
C |
16: 90,960,615 |
T882A |
probably benign |
Het |
Vmn1r84 |
A |
T |
7: 12,362,763 |
M1K |
probably null |
Het |
Zfhx4 |
A |
T |
3: 5,401,733 |
E2317V |
probably damaging |
Het |
Zfp345 |
A |
T |
2: 150,472,909 |
I236K |
probably benign |
Het |
|
Other mutations in A1cf |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01330:A1cf
|
APN |
19 |
31920951 |
missense |
possibly damaging |
0.90 |
IGL01411:A1cf
|
APN |
19 |
31911229 |
missense |
possibly damaging |
0.94 |
IGL01445:A1cf
|
APN |
19 |
31945798 |
missense |
probably benign |
0.32 |
IGL02165:A1cf
|
APN |
19 |
31927186 |
missense |
possibly damaging |
0.92 |
IGL02543:A1cf
|
APN |
19 |
31918095 |
missense |
probably damaging |
0.97 |
IGL02651:A1cf
|
APN |
19 |
31932506 |
missense |
probably benign |
0.25 |
IGL02904:A1cf
|
APN |
19 |
31934806 |
missense |
probably damaging |
1.00 |
Haywire
|
UTSW |
19 |
31918124 |
critical splice donor site |
probably null |
|
R0281:A1cf
|
UTSW |
19 |
31945814 |
missense |
probably benign |
0.09 |
R0349:A1cf
|
UTSW |
19 |
31932662 |
missense |
possibly damaging |
0.62 |
R0662:A1cf
|
UTSW |
19 |
31920938 |
missense |
probably benign |
0.00 |
R1055:A1cf
|
UTSW |
19 |
31932519 |
missense |
probably benign |
0.05 |
R1125:A1cf
|
UTSW |
19 |
31920978 |
missense |
probably benign |
0.00 |
R1448:A1cf
|
UTSW |
19 |
31908796 |
missense |
possibly damaging |
0.88 |
R1554:A1cf
|
UTSW |
19 |
31908902 |
missense |
possibly damaging |
0.66 |
R1616:A1cf
|
UTSW |
19 |
31934775 |
missense |
probably damaging |
0.98 |
R1660:A1cf
|
UTSW |
19 |
31893107 |
nonsense |
probably null |
|
R1719:A1cf
|
UTSW |
19 |
31927126 |
missense |
probably damaging |
1.00 |
R2338:A1cf
|
UTSW |
19 |
31932545 |
missense |
probably benign |
|
R2435:A1cf
|
UTSW |
19 |
31920894 |
missense |
probably benign |
0.02 |
R2890:A1cf
|
UTSW |
19 |
31918017 |
missense |
probably benign |
0.05 |
R3688:A1cf
|
UTSW |
19 |
31911169 |
missense |
probably damaging |
1.00 |
R4007:A1cf
|
UTSW |
19 |
31918124 |
critical splice donor site |
probably null |
|
R4208:A1cf
|
UTSW |
19 |
31932660 |
missense |
probably benign |
0.00 |
R4448:A1cf
|
UTSW |
19 |
31945862 |
missense |
probably benign |
|
R5072:A1cf
|
UTSW |
19 |
31917985 |
missense |
probably benign |
0.18 |
R5491:A1cf
|
UTSW |
19 |
31918062 |
missense |
possibly damaging |
0.57 |
R5636:A1cf
|
UTSW |
19 |
31944982 |
nonsense |
probably null |
|
R5932:A1cf
|
UTSW |
19 |
31893118 |
missense |
possibly damaging |
0.68 |
R7066:A1cf
|
UTSW |
19 |
31927114 |
missense |
probably damaging |
0.99 |
R7211:A1cf
|
UTSW |
19 |
31927141 |
missense |
probably benign |
0.23 |
R7413:A1cf
|
UTSW |
19 |
31918124 |
critical splice donor site |
probably null |
|
R7545:A1cf
|
UTSW |
19 |
31934790 |
missense |
possibly damaging |
0.80 |
R8020:A1cf
|
UTSW |
19 |
31893194 |
missense |
probably benign |
0.01 |
R8344:A1cf
|
UTSW |
19 |
31911119 |
missense |
possibly damaging |
0.77 |
R8497:A1cf
|
UTSW |
19 |
31945850 |
missense |
probably benign |
|
R8989:A1cf
|
UTSW |
19 |
31927156 |
missense |
possibly damaging |
0.56 |
R9327:A1cf
|
UTSW |
19 |
31918099 |
missense |
probably benign |
0.12 |
R9436:A1cf
|
UTSW |
19 |
31932575 |
missense |
probably benign |
|
Z1176:A1cf
|
UTSW |
19 |
31918017 |
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 |