Incidental Mutation 'R0959:Aplf'
ID 81769
Institutional Source Beutler Lab
Gene Symbol Aplf
Ensembl Gene ENSMUSG00000030051
Gene Name aprataxin and PNKP like factor
Synonyms 2010301N04Rik
MMRRC Submission 039088-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R0959 (G1)
Quality Score 207
Status Not validated
Chromosome 6
Chromosomal Location 87605406-87649175 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 87623065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 338 (P338L)
Ref Sequence ENSEMBL: ENSMUSP00000066232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032130] [ENSMUST00000065997] [ENSMUST00000203209]
AlphaFold Q9D842
Predicted Effect probably benign
Transcript: ENSMUST00000032130
AA Change: P359L

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000032130
Gene: ENSMUSG00000030051
AA Change: P359L

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 probably benign
Transcript: ENSMUST00000065997
AA Change: P338L

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000066232
Gene: ENSMUSG00000030051
AA Change: P338L

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
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 95.8%
  • 20x: 89.6%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T C 9: 107,808,434 (GRCm39) V919A probably damaging Het
Adam28 G A 14: 68,845,387 (GRCm39) P761L possibly damaging Het
Aoc1l3 T A 6: 48,965,566 (GRCm39) C525S possibly damaging Het
Arl5b T A 2: 15,077,942 (GRCm39) I89N probably damaging Het
Asap2 T C 12: 21,297,320 (GRCm39) V596A probably damaging Het
Baz1b T G 5: 135,273,076 (GRCm39) F1400C probably damaging Het
Ccdc149 A T 5: 52,542,497 (GRCm39) L365Q probably damaging Het
Ccdc60 A G 5: 116,318,870 (GRCm39) S149P probably damaging Het
Ces1b A G 8: 93,794,775 (GRCm39) C275R probably damaging Het
Creb3 T C 4: 43,563,509 (GRCm39) L163P probably damaging Het
Dhx37 T G 5: 125,500,496 (GRCm39) N570T probably benign Het
Epc1 T C 18: 6,453,657 (GRCm39) N223D probably damaging Het
Gbp5 C T 3: 142,208,885 (GRCm39) H143Y possibly damaging Het
Gfod1 A T 13: 43,456,905 (GRCm39) D23E probably benign Het
Gm7361 A T 5: 26,467,051 (GRCm39) E223D possibly damaging Het
Izumo1 A G 7: 45,274,415 (GRCm39) K161E probably damaging Het
Kcnh2 C T 5: 24,527,670 (GRCm39) R894H probably damaging Het
Lrp1b T C 2: 41,158,366 (GRCm39) N1617S possibly damaging Het
Med13l A T 5: 118,892,350 (GRCm39) E1924D possibly damaging Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mtg2 T G 2: 179,725,221 (GRCm39) S145A probably benign Het
Mug2 G A 6: 122,062,454 (GRCm39) S1442N probably benign Het
Myo1b A T 1: 51,836,246 (GRCm39) I315N probably damaging Het
Naip2 G A 13: 100,291,386 (GRCm39) T1184M probably benign Het
Naip2 T A 13: 100,291,419 (GRCm39) H1173L probably benign Het
Nsrp1 G A 11: 76,937,285 (GRCm39) R304* probably null Het
Or2a56 G T 6: 42,932,686 (GRCm39) V85L probably benign Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Parp4 T C 14: 56,885,576 (GRCm39) F1552L unknown Het
Pigw G A 11: 84,769,033 (GRCm39) H99Y probably benign Het
Ppp6r2 G A 15: 89,158,379 (GRCm39) M444I possibly damaging Het
Rchy1 A G 5: 92,105,476 (GRCm39) F82L probably damaging Het
Reln A C 5: 22,432,626 (GRCm39) F125V probably damaging Het
Riok1 G A 13: 38,241,149 (GRCm39) E435K probably damaging Het
Rnf213 A G 11: 119,343,407 (GRCm39) R3590G probably damaging Het
Scart2 A G 7: 139,874,704 (GRCm39) E394G probably damaging Het
Scrib G C 15: 75,923,310 (GRCm39) P1249A probably benign Het
Shc4 C T 2: 125,520,607 (GRCm39) probably null Het
Slc12a2 T A 18: 58,037,450 (GRCm39) I520N probably damaging Het
Slc26a5 A G 5: 22,021,959 (GRCm39) I484T probably benign Het
Slc39a11 G T 11: 113,354,899 (GRCm39) T110K probably benign Het
Snd1 T A 6: 28,884,970 (GRCm39) S774T probably benign Het
Spata31d1c C T 13: 65,184,129 (GRCm39) P557L probably damaging Het
Tada1 A G 1: 166,216,198 (GRCm39) D133G probably benign Het
Tg A T 15: 66,579,859 (GRCm39) T1555S probably damaging Het
Thra A G 11: 98,644,455 (GRCm39) E15G possibly damaging Het
Timd5 A T 11: 46,427,247 (GRCm39) R187* probably null Het
Ttn T A 2: 76,625,440 (GRCm39) I15128F probably damaging Het
Ube2r2 A G 4: 41,174,066 (GRCm39) Y68C probably damaging Het
Uncx A T 5: 139,532,442 (GRCm39) N169I probably damaging Het
Vmn2r100 A G 17: 19,743,786 (GRCm39) Y483C possibly damaging Het
Xkr4 T C 1: 3,286,897 (GRCm39) D431G probably damaging Het
Xylb C A 9: 119,209,091 (GRCm39) A311E possibly damaging Het
Zbtb39 C G 10: 127,578,175 (GRCm39) Q250E probably benign Het
Zbtb39 C A 10: 127,578,931 (GRCm39) H502N probably damaging Het
Zfp82 A G 7: 29,755,876 (GRCm39) L402P probably damaging Het
Zpbp2 G A 11: 98,448,451 (GRCm39) R256Q 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
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
R6271:Aplf UTSW 6 87,623,230 (GRCm39) missense possibly damaging 0.88
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'- TGCACAAAGCACTGACCGGAAG -3'
(R):5'- GGACCCAGATGTGGATATTGTGAAGAC -3'

Sequencing Primer
(F):5'- TGACCGGAAGGCAATGGTTC -3'
(R):5'- CGGGATTTTAATAGAGGAACTTGG -3'
Posted On 2013-11-08