Incidental Mutation 'R6271:Aplf'
ID 507330
Institutional Source Beutler Lab
Gene Symbol Aplf
Ensembl Gene ENSMUSG00000030051
Gene Name aprataxin and PNKP like factor
Synonyms 2010301N04Rik
MMRRC Submission 044379-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R6271 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 87605406-87649175 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87623230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 304 (E304G)
Ref Sequence ENSEMBL: ENSMUSP00000032130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032130] [ENSMUST00000065997] [ENSMUST00000203209]
AlphaFold Q9D842
Predicted Effect possibly damaging
Transcript: ENSMUST00000032130
AA Change: E304G

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032130
Gene: ENSMUSG00000030051
AA Change: E304G

DomainStartEndE-ValueType
SCOP:d1lgpa_ 6 105 2e-11 SMART
low complexity region 264 278 N/A INTRINSIC
low complexity region 340 349 N/A INTRINSIC
Pfam:zf-CCHH 372 396 1.7e-16 PFAM
Pfam:zf-CCHH 414 437 6.8e-15 PFAM
low complexity region 456 471 N/A INTRINSIC
low complexity region 477 486 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000065997
AA Change: E283G

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000066232
Gene: ENSMUSG00000030051
AA Change: E283G

DomainStartEndE-ValueType
SCOP:d1lgpa_ 14 84 7e-6 SMART
low complexity region 243 257 N/A INTRINSIC
low complexity region 319 328 N/A INTRINSIC
Pfam:zf-CCHH 351 376 1.7e-15 PFAM
Pfam:zf-CCHH 393 417 1.9e-15 PFAM
low complexity region 435 450 N/A INTRINSIC
low complexity region 456 465 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203776
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] C2ORF13 is a component of the cellular response to chromosomal DNA single- and double-strand breaks (Iles et al., 2007 [PubMed 17353262]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased repair of gamma irradiation-induced DNA damage and increased microhomology at class switch recombination junctions in B cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G T 4: 132,792,035 (GRCm39) C1092F possibly damaging Het
Atp12a A G 14: 56,615,879 (GRCm39) D547G probably benign Het
B3gat2 T C 1: 23,854,342 (GRCm39) L212P probably damaging Het
Babam2 G T 5: 32,158,706 (GRCm39) A219S probably damaging Het
Ccdc18 A C 5: 108,322,753 (GRCm39) S618R possibly damaging Het
Ces2c G A 8: 105,578,748 (GRCm39) G342D probably damaging Het
Cfap57 A C 4: 118,452,956 (GRCm39) D582E probably benign Het
Cisd2 T C 3: 135,114,627 (GRCm39) N115D possibly damaging Het
Cyp17a1 A G 19: 46,661,159 (GRCm39) F42L probably benign Het
Fam234a T C 17: 26,437,211 (GRCm39) D156G probably benign Het
Fer1l6 T A 15: 58,513,767 (GRCm39) I1554K probably benign Het
Fv1 A G 4: 147,954,474 (GRCm39) T347A possibly damaging Het
Gm5134 T A 10: 75,831,643 (GRCm39) C361S probably benign Het
Grin3a T C 4: 49,792,516 (GRCm39) I406V probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ifna13 A C 4: 88,562,082 (GRCm39) L181V possibly damaging Het
Irx4 A G 13: 73,414,713 (GRCm39) probably null Het
Kcna3 T A 3: 106,944,922 (GRCm39) M395K probably damaging Het
Kcnma1 A T 14: 23,559,957 (GRCm39) V347D probably damaging Het
Kng2 A T 16: 22,822,698 (GRCm39) V218E probably benign Het
Krt36 G A 11: 99,995,298 (GRCm39) Q167* probably null Het
Lama2 T C 10: 26,899,325 (GRCm39) D2457G possibly damaging Het
Ldah G A 12: 8,318,599 (GRCm39) probably null Het
Lhfpl3 G T 5: 22,951,242 (GRCm39) A18S probably benign Het
Lrrk1 A G 7: 65,956,851 (GRCm39) probably null Het
Ltv1 T C 10: 13,055,445 (GRCm39) Y352C probably damaging Het
Lyst G T 13: 13,833,339 (GRCm39) M1720I probably benign Het
Mkx A T 18: 6,937,059 (GRCm39) probably null Het
Myo18a A G 11: 77,711,635 (GRCm39) H626R probably damaging Het
Nop9 A C 14: 55,991,198 (GRCm39) Q618H probably damaging Het
Or12k5 T C 2: 36,895,554 (GRCm39) Q24R probably damaging Het
Or4c12b T C 2: 89,646,906 (GRCm39) S73P probably damaging Het
Or7g32 A G 9: 19,389,337 (GRCm39) S67P probably damaging Het
Or8c9 T C 9: 38,241,578 (GRCm39) S232P probably benign Het
Otog C A 7: 45,901,464 (GRCm39) Q388K probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Oxct2b T G 4: 123,011,508 (GRCm39) V476G probably damaging Het
Parp10 T C 15: 76,126,202 (GRCm39) T329A probably benign Het
Pcdhga5 T C 18: 37,829,735 (GRCm39) S728P probably benign Het
Piezo1 G T 8: 123,221,671 (GRCm39) H574Q probably damaging Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Preb C A 5: 31,115,395 (GRCm39) V255F probably damaging Het
Prmt9 A G 8: 78,304,092 (GRCm39) N725S probably damaging Het
Ric1 A T 19: 29,544,765 (GRCm39) probably null Het
Semp2l1 T A 1: 32,584,572 (GRCm39) D446V probably damaging Het
Serinc3 G C 2: 163,472,896 (GRCm39) L245V probably benign Het
Sgce T C 6: 4,730,015 (GRCm39) K70E possibly damaging Het
Simc1 T G 13: 54,687,537 (GRCm39) V102G probably damaging Het
Slc66a3 T C 12: 17,047,704 (GRCm39) D76G probably damaging Het
Smyd2 A G 1: 189,616,049 (GRCm39) Y362H probably damaging Het
Sptbn1 G T 11: 30,050,660 (GRCm39) H2310N probably benign Het
Syne1 T C 10: 5,184,652 (GRCm39) Y4077C probably damaging Het
Syne2 C A 12: 75,937,155 (GRCm39) A251E probably damaging Het
Taok1 A T 11: 77,464,609 (GRCm39) L159Q probably damaging Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Timeless T C 10: 128,086,593 (GRCm39) L1043P probably damaging Het
Tmprss3 T C 17: 31,405,536 (GRCm39) E352G probably damaging Het
Trav6-4 A T 14: 53,692,039 (GRCm39) T46S probably benign Het
Ubiad1 A T 4: 148,521,083 (GRCm39) Y180* probably null Het
Usp47 A G 7: 111,686,263 (GRCm39) E627G probably damaging Het
Vmn2r124 A G 17: 18,283,145 (GRCm39) T280A probably benign Het
Other mutations in Aplf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Aplf APN 6 87,645,390 (GRCm39) splice site probably benign
IGL01304:Aplf APN 6 87,618,882 (GRCm39) missense possibly damaging 0.71
IGL02267:Aplf APN 6 87,635,946 (GRCm39) missense probably damaging 1.00
R0294:Aplf UTSW 6 87,623,227 (GRCm39) missense probably benign 0.02
R0352:Aplf UTSW 6 87,630,866 (GRCm39) missense probably benign 0.01
R0445:Aplf UTSW 6 87,640,734 (GRCm39) missense probably damaging 1.00
R0959:Aplf UTSW 6 87,623,065 (GRCm39) missense probably benign 0.24
R1127:Aplf UTSW 6 87,623,273 (GRCm39) missense probably benign 0.00
R1583:Aplf UTSW 6 87,623,015 (GRCm39) missense probably damaging 1.00
R2878:Aplf UTSW 6 87,645,409 (GRCm39) nonsense probably null
R3617:Aplf UTSW 6 87,648,865 (GRCm39) missense possibly damaging 0.85
R4708:Aplf UTSW 6 87,640,739 (GRCm39) missense probably damaging 1.00
R4823:Aplf UTSW 6 87,623,237 (GRCm39) missense probably damaging 1.00
R4919:Aplf UTSW 6 87,607,046 (GRCm39) missense possibly damaging 0.94
R4941:Aplf UTSW 6 87,623,331 (GRCm39) missense probably benign 0.00
R4941:Aplf UTSW 6 87,645,405 (GRCm39) missense probably damaging 1.00
R5208:Aplf UTSW 6 87,619,008 (GRCm39) splice site probably null
R5575:Aplf UTSW 6 87,623,129 (GRCm39) missense probably benign 0.02
R6381:Aplf UTSW 6 87,635,959 (GRCm39) missense probably damaging 0.96
R6772:Aplf UTSW 6 87,640,781 (GRCm39) missense possibly damaging 0.76
R6906:Aplf UTSW 6 87,607,068 (GRCm39) missense possibly damaging 0.65
R6975:Aplf UTSW 6 87,623,068 (GRCm39) missense probably damaging 0.98
R7015:Aplf UTSW 6 87,618,884 (GRCm39) missense probably damaging 0.99
R7038:Aplf UTSW 6 87,630,805 (GRCm39) nonsense probably null
R7296:Aplf UTSW 6 87,623,197 (GRCm39) missense probably damaging 0.99
R7778:Aplf UTSW 6 87,635,184 (GRCm39) splice site probably null
R8259:Aplf UTSW 6 87,606,987 (GRCm39) missense probably benign 0.23
R8260:Aplf UTSW 6 87,606,987 (GRCm39) missense probably benign 0.23
R9047:Aplf UTSW 6 87,640,779 (GRCm39) missense possibly damaging 0.79
R9570:Aplf UTSW 6 87,640,781 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- TTTCTTCTGAACAGCCCAGC -3'
(R):5'- GAGCATCGTCTCACGTTTCC -3'

Sequencing Primer
(F):5'- AGCACTGGGTCAGCTGTGTC -3'
(R):5'- CACTGACCTTGAACTCAGAGATTGG -3'
Posted On 2018-03-15