Incidental Mutation 'R4208:A1cf'
ID 319049
Institutional Source Beutler Lab
Gene Symbol A1cf
Ensembl Gene ENSMUSG00000052595
Gene Name APOBEC1 complementation factor
Synonyms 1810073H04Rik, apobec-1 complementation factor, ACF
MMRRC Submission 041037-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R4208 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 31846164-31926395 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31910060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 284 (L284P)
Ref Sequence ENSEMBL: ENSMUSP00000153397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075838] [ENSMUST00000224304] [ENSMUST00000224400] [ENSMUST00000224564]
AlphaFold Q5YD48
Predicted Effect probably benign
Transcript: ENSMUST00000075838
AA Change: L368P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000075235
Gene: ENSMUSG00000052595
AA Change: L368P

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 benign
Transcript: ENSMUST00000224304
AA Change: L368P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000224400
AA Change: L284P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000224564
AA Change: L368P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.1123 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 100% (57/57)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G A 11: 109,872,551 (GRCm39) Q17* probably null Het
Abcc6 A C 7: 45,635,987 (GRCm39) L1020R probably damaging Het
Ace2 A G X: 162,952,581 (GRCm39) I110V probably benign Het
Adamts12 A G 15: 11,071,840 (GRCm39) H128R probably benign Het
Aoc1l2 A T 6: 48,908,581 (GRCm39) D527V probably damaging Het
Apol9a G C 15: 77,288,596 (GRCm39) T257S probably benign Het
B4galnt3 A G 6: 120,192,063 (GRCm39) S557P probably damaging Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Casp12 T C 9: 5,346,629 (GRCm39) L52P probably damaging Het
Cep126 C T 9: 8,100,822 (GRCm39) E571K probably damaging Het
Cfhr1 A G 1: 139,475,616 (GRCm39) probably benign Het
Cmah A G 13: 24,601,410 (GRCm39) probably null Het
Col10a1 C T 10: 34,271,539 (GRCm39) P504S probably damaging Het
Ctnna3 T A 10: 64,795,557 (GRCm39) D758E probably benign Het
Cyp2c65 T C 19: 39,079,099 (GRCm39) S393P probably damaging Het
Dclk2 A G 3: 86,738,129 (GRCm39) probably null Het
Dis3 T G 14: 99,332,752 (GRCm39) I227L probably benign Het
Efhc2 T C X: 17,096,789 (GRCm39) N186S possibly damaging Het
F13b G T 1: 139,444,079 (GRCm39) W471L probably damaging Het
Fam181a A G 12: 103,282,173 (GRCm39) D26G probably damaging Het
Gabpb2 A G 3: 95,111,245 (GRCm39) probably benign Het
Gm7293 A G 9: 51,534,879 (GRCm39) noncoding transcript Het
H3f3a C T 1: 180,630,703 (GRCm39) R117H probably benign Het
Ino80b G C 6: 83,099,314 (GRCm39) P178R probably damaging Het
Kif3b G A 2: 153,165,477 (GRCm39) R628Q probably damaging Het
Lars1 T C 18: 42,362,768 (GRCm39) E557G probably benign Het
Ldlrad3 C T 2: 101,783,507 (GRCm39) D240N probably damaging Het
Lingo2 T C 4: 35,709,810 (GRCm39) I57V probably benign Het
Lsr A G 7: 30,672,519 (GRCm39) I27T probably benign Het
Me2 T C 18: 73,924,156 (GRCm39) K352R probably benign Het
Met T C 6: 17,548,728 (GRCm39) V924A possibly damaging Het
Mpp3 T C 11: 101,891,426 (GRCm39) T571A probably benign Het
Or4c1 A T 2: 89,133,270 (GRCm39) I222N probably damaging Het
Or52n3 A G 7: 104,530,810 (GRCm39) T299A probably damaging Het
Padi1 C A 4: 140,544,538 (GRCm39) V552L possibly damaging Het
Pfkfb1 A T X: 149,405,184 (GRCm39) D208V possibly damaging Het
Rnase4 A G 14: 51,342,462 (GRCm39) K62R probably benign Het
RP24-126A19.1 C A 5: 146,832,606 (GRCm39) R123L noncoding transcript Het
Scn10a T A 9: 119,445,842 (GRCm39) E1438V probably damaging Het
Sfmbt2 T A 2: 10,547,793 (GRCm39) D458E probably damaging Het
Slitrk3 T A 3: 72,958,490 (GRCm39) Y94F possibly damaging Het
Sstr2 A C 11: 113,515,482 (GRCm39) T134P probably damaging Het
Steap4 A G 5: 8,030,404 (GRCm39) Y420C probably damaging Het
Tamm41 AGGG AGG 6: 114,989,320 (GRCm39) probably benign Het
Trav7-3 A G 14: 53,681,203 (GRCm39) T82A probably benign Het
Trbv23 A T 6: 41,193,022 (GRCm39) I6F probably benign Het
Vmn1r87 A G 7: 12,866,185 (GRCm39) V34A probably benign Het
Zc3h7a C T 16: 10,982,508 (GRCm39) E6K possibly damaging Het
Zfp606 G A 7: 12,228,102 (GRCm39) C683Y probably 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
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'- TATGTTAGGTACACCCGGGG -3'
(R):5'- ACTTTGTGGATCCCTCAAGG -3'

Sequencing Primer
(F):5'- GCACCGGTGGCAGGAAC -3'
(R):5'- GGGCTCATTCATATCATGTTCTAAC -3'
Posted On 2015-06-10