Incidental Mutation 'R4457:Pif1'
ID 329957
Institutional Source Beutler Lab
Gene Symbol Pif1
Ensembl Gene ENSMUSG00000041064
Gene Name PIF1 5'-to-3' DNA helicase
Synonyms AI449441
MMRRC Submission 041717-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4457 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 65494442-65503249 bp(+) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) A to G at 65495058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047099] [ENSMUST00000131483] [ENSMUST00000134538] [ENSMUST00000136205] [ENSMUST00000141046] [ENSMUST00000154970]
AlphaFold Q80SX8
Predicted Effect probably benign
Transcript: ENSMUST00000047099
SMART Domains Protein: ENSMUSP00000049046
Gene: ENSMUSG00000041064

DomainStartEndE-ValueType
low complexity region 125 137 N/A INTRINSIC
Pfam:AAA_30 215 426 1.8e-15 PFAM
Pfam:PIF1 215 513 2.1e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131483
SMART Domains Protein: ENSMUSP00000117494
Gene: ENSMUSG00000041064

DomainStartEndE-ValueType
low complexity region 125 137 N/A INTRINSIC
Pfam:AAA_30 215 426 1.8e-15 PFAM
Pfam:PIF1 215 513 2.1e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134538
SMART Domains Protein: ENSMUSP00000122060
Gene: ENSMUSG00000041064

DomainStartEndE-ValueType
low complexity region 125 137 N/A INTRINSIC
Pfam:AAA_30 215 426 1.8e-15 PFAM
Pfam:PIF1 215 513 2.1e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136205
Predicted Effect probably benign
Transcript: ENSMUST00000141046
SMART Domains Protein: ENSMUSP00000120400
Gene: ENSMUSG00000041064

DomainStartEndE-ValueType
low complexity region 125 137 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152529
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152885
Predicted Effect probably benign
Transcript: ENSMUST00000154970
SMART Domains Protein: ENSMUSP00000117085
Gene: ENSMUSG00000041064

DomainStartEndE-ValueType
low complexity region 125 137 N/A INTRINSIC
Pfam:AAA_30 215 410 1e-14 PFAM
Pfam:PIF1 215 410 8e-59 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (62/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA-dependent adenosine triphosphate (ATP)-metabolizing enzyme that functions as a 5' to 3' DNA helicase. The encoded protein can resolve G-quadruplex structures and RNA-DNA hybrids at the ends of chromosomes. It also prevents telomere elongation by inhibiting the actions of telomerase. Alternative splicing and the use of alternative start codons results in multiple isoforms that are differentially localized to either the mitochondria or the nucleus. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal and show no evidence of increased sensitivity to DNA damage, genetic instability, reproducible telomere length alteration or other cellular abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008E08Rik A G 16: 90,351,260 (GRCm39) noncoding transcript Het
1700025G04Rik T C 1: 151,796,805 (GRCm39) R87G probably damaging Het
9030619P08Rik T A 15: 75,303,249 (GRCm39) noncoding transcript Het
Akap13 A G 7: 75,389,213 (GRCm39) D2377G probably damaging Het
Arhgef5 T C 6: 43,251,027 (GRCm39) S593P probably damaging Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Cfap73 T C 5: 120,768,215 (GRCm39) K181R possibly damaging Het
Chn1 A G 2: 73,443,427 (GRCm39) I383T probably damaging Het
Cmtr2 A G 8: 110,948,884 (GRCm39) D398G probably benign Het
Dnah12 T C 14: 26,537,464 (GRCm39) Y2238H probably damaging Het
Dnah7c A G 1: 46,779,781 (GRCm39) N3161S probably damaging Het
Dnah8 C A 17: 31,032,125 (GRCm39) H4148Q probably benign Het
Ehbp1l1 T C 19: 5,766,321 (GRCm39) S397G possibly damaging Het
Eya4 A T 10: 22,992,566 (GRCm39) S462R probably damaging Het
Fam227b T A 2: 125,988,188 (GRCm39) probably benign Het
Frrs1 G A 3: 116,690,377 (GRCm39) V7I probably benign Het
Fsip2 G T 2: 82,821,120 (GRCm39) A5618S possibly damaging Het
Gja10 A T 4: 32,601,073 (GRCm39) M437K probably benign Het
Gm2840 T G 5: 96,322,187 (GRCm39) noncoding transcript Het
Gm4956 A G 1: 21,368,319 (GRCm39) noncoding transcript Het
Gria4 A G 9: 4,427,074 (GRCm39) W789R probably damaging Het
Hoxb5 A G 11: 96,194,546 (GRCm39) D36G probably damaging Het
Hps5 A T 7: 46,433,037 (GRCm39) C228S probably benign Het
Hspa4 A T 11: 53,171,395 (GRCm39) C270S probably damaging Het
Htra4 C A 8: 25,528,674 (GRCm39) A73S possibly damaging Het
Ikzf2 T C 1: 69,723,347 (GRCm39) probably benign Het
Ivl G A 3: 92,479,673 (GRCm39) H131Y probably benign Het
Kat6a A G 8: 23,422,129 (GRCm39) probably null Het
Lamp3 T A 16: 19,492,279 (GRCm39) M322L probably benign Het
Letmd1 T C 15: 100,373,011 (GRCm39) V37A possibly damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myh1 G A 11: 67,111,441 (GRCm39) G1627R probably benign Het
Myo9b A G 8: 71,743,643 (GRCm39) I235V probably damaging Het
Ndor1 A G 2: 25,138,128 (GRCm39) probably null Het
Ndufa12 A T 10: 94,056,680 (GRCm39) K136M probably damaging Het
Or2t49 A G 11: 58,392,944 (GRCm39) L146P probably damaging Het
Or4a78 A T 2: 89,497,427 (GRCm39) S268T probably benign Het
Or51g2 C T 7: 102,622,734 (GRCm39) S155N probably damaging Het
Or5d44 A G 2: 88,141,173 (GRCm39) probably benign Het
Pcdha2 A G 18: 37,073,599 (GRCm39) D410G probably damaging Het
Pcyox1l T A 18: 61,830,939 (GRCm39) N311I probably benign Het
Pkp1 CTCTTCTT CTCTT 1: 135,803,362 (GRCm39) probably null Het
Pogz G A 3: 94,763,374 (GRCm39) V49I probably benign Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rnf4 A G 5: 34,508,705 (GRCm39) Y189C probably benign Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Sgms2 A C 3: 131,118,665 (GRCm39) Y273D probably damaging Het
Slc25a10 G A 11: 120,387,915 (GRCm39) V203I probably benign Het
Slc4a2 T A 5: 24,639,328 (GRCm39) probably benign Het
Tbc1d13 A G 2: 30,025,450 (GRCm39) probably benign Het
Tdrd7 A G 4: 46,007,526 (GRCm39) N526S probably benign Het
Tet2 C T 3: 133,191,324 (GRCm39) D1037N possibly damaging Het
Thrb T A 14: 18,011,187 (GRCm38) W188R probably damaging Het
Ttn T C 2: 76,777,257 (GRCm39) M1382V probably benign Het
Usp9y T A Y: 1,394,078 (GRCm39) I551L possibly damaging Het
Vwde T C 6: 13,196,100 (GRCm39) I308M probably damaging Het
Zan T C 5: 137,409,778 (GRCm39) I3488V unknown Het
Zgrf1 A T 3: 127,389,578 (GRCm39) I375F probably damaging Het
Zic4 A G 9: 91,261,315 (GRCm39) K183R probably damaging Het
Other mutations in Pif1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Pif1 APN 9 65,500,559 (GRCm39) missense probably damaging 1.00
IGL01343:Pif1 APN 9 65,496,844 (GRCm39) missense probably damaging 1.00
IGL01753:Pif1 APN 9 65,500,590 (GRCm39) missense probably damaging 1.00
R0415:Pif1 UTSW 9 65,495,333 (GRCm39) missense probably benign 0.00
R1087:Pif1 UTSW 9 65,496,377 (GRCm39) missense probably benign
R1742:Pif1 UTSW 9 65,495,132 (GRCm39) missense probably benign 0.12
R1861:Pif1 UTSW 9 65,496,735 (GRCm39) missense probably damaging 1.00
R3804:Pif1 UTSW 9 65,495,588 (GRCm39) missense probably damaging 0.99
R3950:Pif1 UTSW 9 65,499,116 (GRCm39) missense probably damaging 1.00
R4853:Pif1 UTSW 9 65,500,858 (GRCm39) missense probably damaging 1.00
R5192:Pif1 UTSW 9 65,495,374 (GRCm39) missense probably benign 0.02
R5196:Pif1 UTSW 9 65,495,374 (GRCm39) missense probably benign 0.02
R5269:Pif1 UTSW 9 65,499,111 (GRCm39) missense possibly damaging 0.82
R6703:Pif1 UTSW 9 65,500,545 (GRCm39) missense probably damaging 1.00
R7451:Pif1 UTSW 9 65,495,630 (GRCm39) missense probably benign 0.00
R7556:Pif1 UTSW 9 65,496,993 (GRCm39) critical splice acceptor site probably null
R7938:Pif1 UTSW 9 65,502,073 (GRCm39) missense probably benign 0.01
R8723:Pif1 UTSW 9 65,501,673 (GRCm39) missense probably damaging 1.00
R8952:Pif1 UTSW 9 65,499,499 (GRCm39) missense probably damaging 1.00
R8968:Pif1 UTSW 9 65,499,076 (GRCm39) missense probably damaging 1.00
X0064:Pif1 UTSW 9 65,501,760 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- ATGTGGACATTGCAGGACAATC -3'
(R):5'- GTTCGTTTCGACCTAGGCTC -3'

Sequencing Primer
(F):5'- ATTGCAGGACAATCGCTCG -3'
(R):5'- TCGACCTAGGCTCAGCTCTG -3'
Posted On 2015-07-21