Incidental Mutation 'R3688:A1cf'
ID |
269643 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
A1cf
|
Ensembl Gene |
ENSMUSG00000052595 |
Gene Name |
APOBEC1 complementation factor |
Synonyms |
1810073H04Rik, apobec-1 complementation factor, ACF |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R3688 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
31846164-31926395 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 31888569 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 100
(F100I)
|
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: F100I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000075235 Gene: ENSMUSG00000052595 AA Change: F100I
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: F100I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224400
AA Change: F16I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224564
AA Change: F100I
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: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,415,968 (GRCm39) |
I687T |
possibly damaging |
Het |
Adam12 |
A |
T |
7: 133,566,525 (GRCm39) |
Y308* |
probably null |
Het |
Adam3 |
T |
C |
8: 25,193,864 (GRCm39) |
T383A |
probably benign |
Het |
Adcy8 |
T |
C |
15: 64,743,556 (GRCm39) |
T351A |
probably damaging |
Het |
Atp11c |
T |
C |
X: 59,327,004 (GRCm39) |
Y431C |
probably benign |
Het |
Atp7b |
T |
C |
8: 22,494,246 (GRCm39) |
H956R |
probably damaging |
Het |
Bptf |
C |
A |
11: 106,965,024 (GRCm39) |
R1275L |
probably benign |
Het |
Cept1 |
G |
T |
3: 106,427,331 (GRCm39) |
N236K |
probably benign |
Het |
Col15a1 |
C |
T |
4: 47,258,689 (GRCm39) |
T360I |
probably benign |
Het |
Efcab6 |
G |
A |
15: 83,755,479 (GRCm39) |
Q1323* |
probably null |
Het |
Efl1 |
T |
A |
7: 82,412,178 (GRCm39) |
S856T |
probably benign |
Het |
Eftud2 |
T |
C |
11: 102,735,027 (GRCm39) |
E624G |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,171,927 (GRCm39) |
T2929A |
probably damaging |
Het |
Gm4884 |
A |
G |
7: 40,692,910 (GRCm39) |
H293R |
possibly damaging |
Het |
Hdac10 |
C |
T |
15: 89,007,767 (GRCm39) |
|
probably null |
Het |
Il17rd |
C |
A |
14: 26,761,105 (GRCm39) |
N15K |
probably null |
Het |
Kcnt1 |
C |
T |
2: 25,784,371 (GRCm39) |
T258I |
probably damaging |
Het |
Kif5a |
T |
G |
10: 127,078,643 (GRCm39) |
N334T |
probably damaging |
Het |
Ksr2 |
A |
G |
5: 117,693,044 (GRCm39) |
Q164R |
probably damaging |
Het |
Map4k4 |
T |
A |
1: 40,024,331 (GRCm39) |
|
probably null |
Het |
Naa80 |
T |
C |
9: 107,460,549 (GRCm39) |
V148A |
possibly damaging |
Het |
Or9a2 |
G |
T |
6: 41,749,160 (GRCm39) |
Y24* |
probably null |
Het |
Pard3b |
A |
G |
1: 62,518,728 (GRCm39) |
T938A |
probably benign |
Het |
Pcdhga6 |
T |
A |
18: 37,841,594 (GRCm39) |
I438N |
probably damaging |
Het |
Pfkm |
T |
A |
15: 98,029,398 (GRCm39) |
N697K |
probably benign |
Het |
Prr23a4 |
A |
T |
9: 98,785,517 (GRCm39) |
M61L |
probably benign |
Het |
Pus10 |
T |
C |
11: 23,617,334 (GRCm39) |
F16L |
probably benign |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rangap1 |
A |
T |
15: 81,602,963 (GRCm39) |
M154K |
possibly damaging |
Het |
Slc25a17 |
A |
G |
15: 81,211,485 (GRCm39) |
F177S |
probably benign |
Het |
Slc34a2 |
G |
A |
5: 53,222,174 (GRCm39) |
G289S |
probably benign |
Het |
Strn4 |
A |
G |
7: 16,556,506 (GRCm39) |
Y123C |
probably damaging |
Het |
Swt1 |
A |
T |
1: 151,267,240 (GRCm39) |
M647K |
probably damaging |
Het |
Trpm5 |
A |
G |
7: 142,632,193 (GRCm39) |
V872A |
probably damaging |
Het |
Ubqln4 |
T |
C |
3: 88,470,466 (GRCm39) |
S313P |
probably damaging |
Het |
Vmn1r17 |
T |
A |
6: 57,337,544 (GRCm39) |
T225S |
probably damaging |
Het |
Vmn2r75 |
T |
A |
7: 85,797,629 (GRCm39) |
H728L |
probably damaging |
Het |
Vps33a |
T |
C |
5: 123,673,274 (GRCm39) |
|
probably null |
Het |
Vwde |
T |
A |
6: 13,186,891 (GRCm39) |
R865S |
probably damaging |
Het |
Zfp408 |
T |
A |
2: 91,476,777 (GRCm39) |
M126L |
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 |
R0697:A1cf
|
UTSW |
19 |
31,888,567 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- AGGCAGTTTGGCAAGTATGG -3'
(R):5'- AGCATTCTCTCCGCACAATC -3'
Sequencing Primer
(F):5'- CAGTTTGGCAAGTATGGAGTGTG -3'
(R):5'- CGAAGAAAGATGTAGCATTTTATTCC -3'
|
Posted On |
2015-02-19 |