Incidental Mutation 'R1554:A1cf'
ID 170198
Institutional Source Beutler Lab
Gene Symbol A1cf
Ensembl Gene ENSMUSG00000052595
Gene Name APOBEC1 complementation factor
Synonyms apobec-1 complementation factor, ACF, 1810073H04Rik
MMRRC Submission 039593-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R1554 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 31868764-31948573 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31908902 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 70 (D70E)
Ref Sequence ENSEMBL: ENSMUSP00000153465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075838] [ENSMUST00000224304] [ENSMUST00000224400] [ENSMUST00000224564]
AlphaFold Q5YD48
Predicted Effect possibly damaging
Transcript: ENSMUST00000075838
AA Change: D70E

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000075235
Gene: ENSMUSG00000052595
AA Change: D70E

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 possibly damaging
Transcript: ENSMUST00000224304
AA Change: D70E

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000224400
Predicted Effect possibly damaging
Transcript: ENSMUST00000224564
AA Change: D70E

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224809
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225165
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 89.0%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A T 9: 90,173,650 (GRCm38) D152V probably damaging Het
Api5 T C 2: 94,425,643 (GRCm38) D233G probably benign Het
Btaf1 A G 19: 36,996,598 (GRCm38) D1390G probably benign Het
Cep135 G A 5: 76,634,213 (GRCm38) W893* probably null Het
Cmtm6 T A 9: 114,746,482 (GRCm38) V153D possibly damaging Het
Dnah11 C T 12: 118,082,499 (GRCm38) V1735I possibly damaging Het
Dnm1l T C 16: 16,341,426 (GRCm38) N104S probably benign Het
Dpyd A T 3: 119,065,046 (GRCm38) probably null Het
Dtx1 T C 5: 120,683,321 (GRCm38) K387R probably damaging Het
Ercc4 A G 16: 13,147,622 (GRCm38) D706G probably damaging Het
Fam208b A G 13: 3,576,374 (GRCm38) V1192A possibly damaging Het
Fat2 T C 11: 55,253,664 (GRCm38) N4128S probably benign Het
Gm42669 T A 5: 107,507,787 (GRCm38) C639S possibly damaging Het
Grk3 T A 5: 112,969,269 (GRCm38) I89L possibly damaging Het
Grm8 A T 6: 28,125,853 (GRCm38) D91E probably benign Het
Havcr1 C A 11: 46,752,507 (GRCm38) H85N probably benign Het
Il12rb1 G A 8: 70,813,372 (GRCm38) probably null Het
Kif3a A G 11: 53,598,327 (GRCm38) K117E probably damaging Het
Kitl T A 10: 100,087,438 (GRCm38) F15L probably benign Het
Ktn1 T G 14: 47,695,507 (GRCm38) L706R probably damaging Het
Lipg T C 18: 74,948,047 (GRCm38) Y321C probably damaging Het
Mapk8ip3 T C 17: 24,903,059 (GRCm38) D710G probably benign Het
Mb21d1 A T 9: 78,435,556 (GRCm38) S321R probably damaging Het
Mchr1 A G 15: 81,235,820 (GRCm38) N16S probably benign Het
Myadml2 A T 11: 120,647,727 (GRCm38) L94* probably null Het
Npr3 C A 15: 11,848,563 (GRCm38) M439I probably benign Het
Obscn A G 11: 59,003,648 (GRCm38) I6677T unknown Het
Ogn A C 13: 49,621,044 (GRCm38) D221A probably benign Het
Olfr889 T C 9: 38,115,934 (GRCm38) I46T probably benign Het
Pard3b C A 1: 62,637,894 (GRCm38) Q1195K probably damaging Het
Pcsk4 T C 10: 80,321,951 (GRCm38) E608G probably benign Het
Pdlim1 T C 19: 40,223,072 (GRCm38) D259G probably benign Het
Per1 T C 11: 69,103,627 (GRCm38) S526P probably damaging Het
Pfkfb2 A G 1: 130,706,472 (GRCm38) V156A probably damaging Het
Ppp4r3a A T 12: 101,055,822 (GRCm38) D307E probably damaging Het
Rims4 T C 2: 163,879,122 (GRCm38) S70G probably damaging Het
Rnf213 T C 11: 119,441,839 (GRCm38) F2625L probably benign Het
Sap130 T C 18: 31,666,472 (GRCm38) L334P probably damaging Het
Slc16a10 T C 10: 40,076,800 (GRCm38) I233V probably benign Het
Slc16a7 A C 10: 125,230,922 (GRCm38) F283V possibly damaging Het
Slc25a24 T C 3: 109,136,270 (GRCm38) M81T probably benign Het
Slc30a9 A G 5: 67,326,921 (GRCm38) R134G probably damaging Het
Slc35d3 G T 10: 19,850,737 (GRCm38) L96M probably damaging Het
Slc7a11 C T 3: 50,381,896 (GRCm38) G333D probably damaging Het
Stam T C 2: 14,141,828 (GRCm38) S446P probably benign Het
Stk38 T A 17: 28,979,232 (GRCm38) N248I possibly damaging Het
Tle6 A C 10: 81,595,385 (GRCm38) S221A probably benign Het
Tmprss11b G A 5: 86,661,631 (GRCm38) T334I probably benign Het
Tmprss11c T A 5: 86,289,260 (GRCm38) M1L possibly damaging Het
Tpm1 T C 9: 67,023,429 (GRCm38) H262R probably benign Het
Tspan33 T C 6: 29,711,082 (GRCm38) S118P possibly damaging Het
Tyk2 A G 9: 21,107,922 (GRCm38) V1068A probably damaging Het
Ubr2 T C 17: 46,972,951 (GRCm38) I591V probably benign Het
Utp20 A T 10: 88,764,737 (GRCm38) Y38* probably null Het
Vmn1r217 A T 13: 23,114,294 (GRCm38) I146N possibly damaging Het
Zfp608 T C 18: 54,898,054 (GRCm38) Y938C probably damaging Het
Other mutations in A1cf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01330:A1cf APN 19 31,920,951 (GRCm38) missense possibly damaging 0.90
IGL01411:A1cf APN 19 31,911,229 (GRCm38) missense possibly damaging 0.94
IGL01445:A1cf APN 19 31,945,798 (GRCm38) missense probably benign 0.32
IGL02165:A1cf APN 19 31,927,186 (GRCm38) missense possibly damaging 0.92
IGL02543:A1cf APN 19 31,918,095 (GRCm38) missense probably damaging 0.97
IGL02651:A1cf APN 19 31,932,506 (GRCm38) missense probably benign 0.25
IGL02904:A1cf APN 19 31,934,806 (GRCm38) missense probably damaging 1.00
Haywire UTSW 19 31,918,124 (GRCm38) critical splice donor site probably null
R0281:A1cf UTSW 19 31,945,814 (GRCm38) missense probably benign 0.09
R0349:A1cf UTSW 19 31,932,662 (GRCm38) missense possibly damaging 0.62
R0662:A1cf UTSW 19 31,920,938 (GRCm38) missense probably benign 0.00
R0697:A1cf UTSW 19 31,911,167 (GRCm38) missense probably damaging 1.00
R1055:A1cf UTSW 19 31,932,519 (GRCm38) missense probably benign 0.05
R1125:A1cf UTSW 19 31,920,978 (GRCm38) missense probably benign 0.00
R1448:A1cf UTSW 19 31,908,796 (GRCm38) missense possibly damaging 0.88
R1616:A1cf UTSW 19 31,934,775 (GRCm38) missense probably damaging 0.98
R1660:A1cf UTSW 19 31,893,107 (GRCm38) nonsense probably null
R1719:A1cf UTSW 19 31,927,126 (GRCm38) missense probably damaging 1.00
R2338:A1cf UTSW 19 31,932,545 (GRCm38) missense probably benign
R2435:A1cf UTSW 19 31,920,894 (GRCm38) missense probably benign 0.02
R2890:A1cf UTSW 19 31,918,017 (GRCm38) missense probably benign 0.05
R3688:A1cf UTSW 19 31,911,169 (GRCm38) missense probably damaging 1.00
R4007:A1cf UTSW 19 31,918,124 (GRCm38) critical splice donor site probably null
R4208:A1cf UTSW 19 31,932,660 (GRCm38) missense probably benign 0.00
R4448:A1cf UTSW 19 31,945,862 (GRCm38) missense probably benign
R5072:A1cf UTSW 19 31,917,985 (GRCm38) missense probably benign 0.18
R5491:A1cf UTSW 19 31,918,062 (GRCm38) missense possibly damaging 0.57
R5636:A1cf UTSW 19 31,944,982 (GRCm38) nonsense probably null
R5932:A1cf UTSW 19 31,893,118 (GRCm38) missense possibly damaging 0.68
R7066:A1cf UTSW 19 31,927,114 (GRCm38) missense probably damaging 0.99
R7211:A1cf UTSW 19 31,927,141 (GRCm38) missense probably benign 0.23
R7413:A1cf UTSW 19 31,918,124 (GRCm38) critical splice donor site probably null
R7545:A1cf UTSW 19 31,934,790 (GRCm38) missense possibly damaging 0.80
R8020:A1cf UTSW 19 31,893,194 (GRCm38) missense probably benign 0.01
R8344:A1cf UTSW 19 31,911,119 (GRCm38) missense possibly damaging 0.77
R8497:A1cf UTSW 19 31,945,850 (GRCm38) missense probably benign
R8989:A1cf UTSW 19 31,927,156 (GRCm38) missense possibly damaging 0.56
R9327:A1cf UTSW 19 31,918,099 (GRCm38) missense probably benign 0.12
R9436:A1cf UTSW 19 31,932,575 (GRCm38) missense probably benign
Z1176:A1cf UTSW 19 31,918,017 (GRCm38) missense probably benign 0.08
Predicted Primers PCR Primer

Sequencing Primer
(R):5'- aaacacacacacacacacac -3'
Posted On 2014-04-13