Incidental Mutation 'R1127:Aplf'
ID 96298
Institutional Source Beutler Lab
Gene Symbol Aplf
Ensembl Gene ENSMUSG00000030051
Gene Name aprataxin and PNKP like factor
Synonyms 2010301N04Rik
MMRRC Submission 039200-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R1127 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 87605406-87649175 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87623273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 269 (T269A)
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: T290A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000032130
Gene: ENSMUSG00000030051
AA Change: T290A

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: T269A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000066232
Gene: ENSMUSG00000030051
AA Change: T269A

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: 98.7%
  • 3x: 97.5%
  • 10x: 93.1%
  • 20x: 80.6%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,019,403 (GRCm39) D179G probably benign Het
Aadacl2fm2 G A 3: 59,659,314 (GRCm39) E256K probably benign Het
Adh7 C T 3: 137,927,490 (GRCm39) A12V probably benign Het
Ankhd1 T A 18: 36,767,399 (GRCm39) N1179K probably damaging Het
Ankrd50 T C 3: 38,511,336 (GRCm39) T344A probably benign Het
Cavin4 T C 4: 48,663,637 (GRCm39) S6P probably damaging Het
Ces2g T C 8: 105,694,094 (GRCm39) probably null Het
Cyp2c66 A T 19: 39,151,812 (GRCm39) N176Y probably damaging Het
Dnah3 T A 7: 119,522,253 (GRCm39) D3980V probably damaging Het
Drc7 G T 8: 95,799,416 (GRCm39) E530D probably damaging Het
Dst A G 1: 34,314,358 (GRCm39) T6434A probably damaging Het
Dtx3l A G 16: 35,759,127 (GRCm39) S41P possibly damaging Het
Eef1b2 G A 1: 63,218,616 (GRCm39) probably null Het
Eml3 C T 19: 8,913,672 (GRCm39) T43I probably damaging Het
Fam110b T A 4: 5,799,434 (GRCm39) L284Q probably damaging Het
Gpr33 A C 12: 52,070,252 (GRCm39) H262Q probably damaging Het
Igfals T G 17: 25,099,455 (GRCm39) L182R probably damaging Het
Lamc1 A G 1: 153,126,205 (GRCm39) F496L possibly damaging Het
Muc4 T A 16: 32,569,343 (GRCm39) H134Q possibly damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Nxn A T 11: 76,164,895 (GRCm39) C205* probably null Het
Oga G A 19: 45,740,594 (GRCm39) R914* probably null Het
Or11l3 T C 11: 58,516,284 (GRCm39) E196G probably damaging Het
Or52h9 C A 7: 104,202,293 (GRCm39) H56N possibly damaging Het
Pamr1 A T 2: 102,469,698 (GRCm39) I415F possibly damaging Het
Ppp4r4 G A 12: 103,545,327 (GRCm39) G200E probably damaging Het
Pramel29 G A 4: 143,933,694 (GRCm39) T471I probably damaging Het
Prdm16 C A 4: 154,613,256 (GRCm39) S57I probably damaging Het
Psmd11 A G 11: 80,362,410 (GRCm39) K157R possibly damaging Het
Ptprn2 G A 12: 117,175,628 (GRCm39) probably null Het
Pus7 G A 5: 23,973,793 (GRCm39) H234Y probably benign Het
Rd3l A G 12: 111,946,717 (GRCm39) Y20H probably benign Het
Stk31 A G 6: 49,386,141 (GRCm39) D160G probably damaging Het
Sycp2 C T 2: 178,016,159 (GRCm39) E768K possibly damaging Het
Tango6 T C 8: 107,415,527 (GRCm39) V116A probably benign Het
Ttn C T 2: 76,697,574 (GRCm39) probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Xylb T C 9: 119,212,443 (GRCm39) I427T probably damaging Het
Zc3h7a T G 16: 10,956,939 (GRCm39) D890A probably damaging 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
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'- GCTTTCTTCTGAACAGCCCAGCAC -3'
(R):5'- GGAGCATCGTCTCACGTTTCCTTTG -3'

Sequencing Primer
(F):5'- GTCTGTGTGCAAAGCATCAG -3'
(R):5'- gaactctctctgttagggcac -3'
Posted On 2014-01-05