Incidental Mutation 'R7413:A1cf'
ID 575252
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) question?
Stock # R7413 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 31846164-31926395 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 31895524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075838] [ENSMUST00000224304] [ENSMUST00000224400] [ENSMUST00000224564]
AlphaFold Q5YD48
Predicted Effect probably null
Transcript: ENSMUST00000075838
SMART Domains Protein: ENSMUSP00000075235
Gene: ENSMUSG00000052595

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000224304
Predicted Effect probably null
Transcript: ENSMUST00000224400
Predicted Effect probably null
Transcript: ENSMUST00000224564
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224809
Meta Mutation Damage Score 0.9494 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl4 A T 4: 111,514,495 (GRCm39) D502V probably benign Het
Akap5 T A 12: 76,375,678 (GRCm39) V370E possibly damaging Het
Alms1 T C 6: 85,605,288 (GRCm39) C1844R probably benign Het
Apaf1 T C 10: 90,831,542 (GRCm39) K1191E probably benign Het
Bsn C T 9: 108,016,690 (GRCm39) R107Q possibly damaging Het
Catsperb G T 12: 101,447,307 (GRCm39) R269L probably damaging Het
Ccer1 T C 10: 97,529,804 (GRCm39) S156P unknown Het
Cdh16 C T 8: 105,346,572 (GRCm39) A241T probably benign Het
Cdk5rap2 A G 4: 70,172,972 (GRCm39) S1367P probably damaging Het
Cds2 C T 2: 132,135,235 (GRCm39) P42L probably benign Het
Col15a1 T C 4: 47,245,431 (GRCm39) Y61H possibly damaging Het
Dclre1a G A 19: 56,531,082 (GRCm39) P755S probably damaging Het
Ddi1 A T 9: 6,265,670 (GRCm39) M233K probably damaging Het
Dpp4 T C 2: 62,187,333 (GRCm39) Y474C probably damaging Het
Epha7 T A 4: 28,871,838 (GRCm39) M389K probably benign Het
Ephb3 T C 16: 21,033,457 (GRCm39) F181S probably damaging Het
Epor G A 9: 21,874,776 (GRCm39) probably benign Het
Fbp2 C A 13: 62,985,067 (GRCm39) V285L probably benign Het
Flnc A T 6: 29,452,258 (GRCm39) D1694V probably damaging Het
Ganab T A 19: 8,882,339 (GRCm39) M98K probably benign Het
Gcm2 A G 13: 41,259,230 (GRCm39) S80P probably damaging Het
Gls A G 1: 52,254,735 (GRCm39) S247P probably benign Het
Gne T C 4: 44,044,857 (GRCm39) N426D probably benign Het
Ifne A T 4: 88,797,840 (GRCm39) *193R probably null Het
Igf2r G T 17: 12,917,115 (GRCm39) S1595* probably null Het
Krt26 C T 11: 99,225,887 (GRCm39) M226I probably benign Het
Lars2 G A 9: 123,288,568 (GRCm39) V805I probably benign Het
Lrrc57 C A 2: 120,436,577 (GRCm39) R177L probably damaging Het
Lrrn1 A G 6: 107,546,083 (GRCm39) E627G probably benign Het
Magel2 CCCTCCTCCTCCTCCTCCTCCT CCCTCCTCCTCCTCCTCCT 7: 62,027,592 (GRCm39) probably benign Het
Mdga1 A T 17: 30,069,647 (GRCm39) V133E probably damaging Het
Med12l A G 3: 58,998,971 (GRCm39) T644A probably benign Het
Meis1 T A 11: 18,938,357 (GRCm39) D218V probably damaging Het
Myo15b A G 11: 115,768,970 (GRCm39) E1439G Het
Naa12 T C 18: 80,254,874 (GRCm39) V56A possibly damaging Het
Nckipsd G A 9: 108,691,280 (GRCm39) V401I probably benign Het
Nrg3 T C 14: 38,092,669 (GRCm39) I655V probably damaging Het
Oprm1 A T 10: 6,778,919 (GRCm39) I107F probably damaging Het
Or4k42 A C 2: 111,319,933 (GRCm39) I190R probably benign Het
Or52n3 A T 7: 104,530,057 (GRCm39) I48F probably benign Het
Or5p51 T C 7: 107,444,721 (GRCm39) D73G probably damaging Het
Osbpl7 T C 11: 96,945,704 (GRCm39) probably null Het
Pcdh18 T G 3: 49,699,232 (GRCm39) S1077R possibly damaging Het
Pcdhb16 A T 18: 37,611,975 (GRCm39) K312* probably null Het
Plekhh2 A T 17: 84,873,724 (GRCm39) E336D probably benign Het
Ptprd A T 4: 76,165,076 (GRCm39) S49T probably benign Het
Pxdn A G 12: 30,052,927 (GRCm39) I1035V probably benign Het
Rlf C T 4: 121,007,297 (GRCm39) G671D probably damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,128 (GRCm39) probably benign Het
Selenbp2 A G 3: 94,607,404 (GRCm39) Q275R probably benign Het
Slc10a1 G T 12: 81,007,396 (GRCm39) F128L probably benign Het
Slitrk1 A T 14: 109,149,357 (GRCm39) Y451* probably null Het
Spata31f3 TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG 4: 42,871,823 (GRCm39) probably benign Het
Stambpl1 G C 19: 34,204,116 (GRCm39) G69R probably damaging Het
Surf4 G T 2: 26,814,455 (GRCm39) R149S probably benign Het
Tmem151a T C 19: 5,132,702 (GRCm39) Y168C probably damaging Het
Ttc39c A G 18: 12,861,746 (GRCm39) K416R possibly damaging Het
Tut4 T C 4: 108,406,533 (GRCm39) I1367T possibly damaging Het
Vit T C 17: 78,932,309 (GRCm39) I472T probably damaging Het
Vmn1r212 A C 13: 23,067,718 (GRCm39) L205R probably damaging Het
Wscd2 T C 5: 113,715,402 (GRCm39) I414T probably benign Het
Zfp1005 A C 2: 150,108,081 (GRCm39) T14P possibly damaging Het
Other mutations in A1cf
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CTGTGCCAGTGTGGACAATTG -3'
(R):5'- GATCAAAGTTCTCCTGATGTGCAG -3'

Sequencing Primer
(F):5'- CCGATTGTTTGTGGGAGGAATCC -3'
(R):5'- GCAGAGGTGTGACTTTTCCAAAATAC -3'
Posted On 2019-10-07