Incidental Mutation 'R7545:A1cf'
ID 584196
Institutional Source Beutler Lab
Gene Symbol A1cf
Ensembl Gene ENSMUSG00000052595
Gene Name APOBEC1 complementation factor
Synonyms 1810073H04Rik, apobec-1 complementation factor, ACF
MMRRC Submission 045650-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R7545 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 31846164-31926395 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31912190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 435 (N435I)
Ref Sequence ENSEMBL: ENSMUSP00000075235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075838] [ENSMUST00000224304] [ENSMUST00000224400] [ENSMUST00000224564]
AlphaFold Q5YD48
Predicted Effect possibly damaging
Transcript: ENSMUST00000075838
AA Change: N435I

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000075235
Gene: ENSMUSG00000052595
AA Change: N435I

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 possibly damaging
Transcript: ENSMUST00000224304
AA Change: N427I

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000224400
Predicted Effect probably benign
Transcript: ENSMUST00000224564
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik T C 5: 107,696,040 (GRCm39) Y159H probably damaging Het
Aasdh A T 5: 77,027,861 (GRCm39) F849I probably damaging Het
Aatf A T 11: 84,361,502 (GRCm39) M367K probably benign Het
Acnat1 A T 4: 49,449,142 (GRCm39) L208* probably null Het
Adam26b C T 8: 43,974,750 (GRCm39) G84D probably damaging Het
Adamtsl1 A T 4: 85,683,092 (GRCm39) E54D probably damaging Het
Ang6 T G 14: 44,239,636 (GRCm39) I31L probably benign Het
Asic4 A G 1: 75,449,060 (GRCm39) N403S probably damaging Het
Bicd1 G A 6: 149,414,990 (GRCm39) V568M probably benign Het
Ccdc192 A G 18: 57,863,895 (GRCm39) E233G probably damaging Het
Cfap45 A T 1: 172,366,163 (GRCm39) M339L probably benign Het
Cnga4 A G 7: 105,056,286 (GRCm39) D399G probably damaging Het
Csnk1g3 C T 18: 54,028,897 (GRCm39) R17W probably damaging Het
Dnah11 A G 12: 117,894,939 (GRCm39) F3636S probably damaging Het
Dscaml1 A T 9: 45,596,681 (GRCm39) T842S probably benign Het
Ets2 C A 16: 95,516,127 (GRCm39) Q236K probably benign Het
Ext2 C A 2: 93,644,108 (GRCm39) V58L probably benign Het
Fam135b T C 15: 71,322,359 (GRCm39) K1269E possibly damaging Het
Fech A G 18: 64,597,185 (GRCm39) L258P probably damaging Het
Gls A G 1: 52,230,311 (GRCm39) S467P probably damaging Het
Gm19410 T A 8: 36,269,779 (GRCm39) D1141E probably damaging Het
Gm45861 T G 8: 28,071,032 (GRCm39) M1246R unknown Het
Gm6902 T A 7: 22,973,087 (GRCm39) I147L probably benign Het
Itga7 G T 10: 128,769,775 (GRCm39) probably benign Het
Itpripl1 A T 2: 126,983,581 (GRCm39) C180* probably null Het
Klhl33 C A 14: 51,130,631 (GRCm39) V28F probably damaging Het
Kmo A T 1: 175,481,194 (GRCm39) D304V probably damaging Het
Mier2 T C 10: 79,377,028 (GRCm39) N537S possibly damaging Het
Mroh9 A G 1: 162,902,277 (GRCm39) I112T possibly damaging Het
Mterf1a T A 5: 3,940,995 (GRCm39) E291V probably damaging Het
Muc5ac T A 7: 141,362,405 (GRCm39) N1905K unknown Het
Myt1l G A 12: 29,877,087 (GRCm39) R246Q unknown Het
Nav2 A G 7: 49,232,605 (GRCm39) E1854G probably damaging Het
Nelfcd A G 2: 174,265,771 (GRCm39) probably null Het
Nf1 T A 11: 79,300,350 (GRCm39) D287E probably benign Het
Nfyc T C 4: 120,630,966 (GRCm39) probably null Het
Obscn A T 11: 58,929,725 (GRCm39) D5163E probably damaging Het
Or10d4c C T 9: 39,558,403 (GRCm39) P127L probably damaging Het
Or8g28 T A 9: 39,169,984 (GRCm39) probably null Het
Plppr1 A T 4: 49,320,002 (GRCm39) L209F possibly damaging Het
Pmm1 T C 15: 81,835,803 (GRCm39) D226G probably damaging Het
Polr1b T A 2: 128,959,766 (GRCm39) probably null Het
Ppp2r5a A G 1: 191,104,806 (GRCm39) V80A probably benign Het
Pramel17 T A 4: 101,695,159 (GRCm39) I51L probably benign Het
Psrc1 A G 3: 108,293,759 (GRCm39) probably null Het
Ralbp1 T C 17: 66,174,593 (GRCm39) T60A probably benign Het
Rasal2 A T 1: 157,020,339 (GRCm39) S217T possibly damaging Het
Rnase12 A G 14: 51,294,395 (GRCm39) F95L probably damaging Het
Rnf152 A T 1: 105,211,957 (GRCm39) I200K probably damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,134 (GRCm39) probably benign Het
Ryk C T 9: 102,765,672 (GRCm39) T327I probably damaging Het
Sell A T 1: 163,892,903 (GRCm39) T40S probably benign Het
Slc15a2 G A 16: 36,595,964 (GRCm39) H153Y probably damaging Het
Slit3 A G 11: 35,591,139 (GRCm39) D1317G possibly damaging Het
Slx4 G A 16: 3,817,164 (GRCm39) T19M probably benign Het
Spata31 C T 13: 65,070,359 (GRCm39) R836* probably null Het
Specc1l T C 10: 75,080,921 (GRCm39) S106P probably benign Het
Speer1a C A 5: 11,394,884 (GRCm39) Q124K possibly damaging Het
Stc2 T C 11: 31,317,799 (GRCm39) N74S probably damaging Het
Strn3 A T 12: 51,674,543 (GRCm39) S498T probably damaging Het
Sva C T 6: 42,019,148 (GRCm39) T106I probably benign Het
Tle3 T A 9: 61,301,984 (GRCm39) L131Q possibly damaging Het
Tmem135 T A 7: 88,954,727 (GRCm39) R97W probably damaging Het
Tmx4 A G 2: 134,451,425 (GRCm39) L176S possibly damaging Het
Tomm20l C A 12: 71,164,171 (GRCm39) probably null Het
Topors A T 4: 40,262,173 (GRCm39) F370L possibly damaging Het
Ulk4 T C 9: 120,970,904 (GRCm39) T1023A probably benign Het
Unc13a C T 8: 72,094,153 (GRCm39) probably null Het
Urb2 T C 8: 124,756,491 (GRCm39) S733P probably benign Het
Vwf A G 6: 125,591,060 (GRCm39) D750G Het
Xylt1 G A 7: 117,192,812 (GRCm39) D373N probably benign 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
R7413:A1cf UTSW 19 31,895,524 (GRCm39) critical splice donor site probably null
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'- GACTTGGGCTAACTTTTCCATTACAG -3'
(R):5'- TCAGCAGCCACTCGAAGTATG -3'

Sequencing Primer
(F):5'- TCCATTACAGTAAGATTCAGGGTG -3'
(R):5'- TGCTAAGCTGATTGCCACAG -3'
Posted On 2019-10-17