Incidental Mutation 'IGL01343:Pif1'
ID 74936
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pif1
Ensembl Gene ENSMUSG00000041064
Gene Name PIF1 5'-to-3' DNA helicase
Synonyms AI449441
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01343
Quality Score
Status
Chromosome 9
Chromosomal Location 65494442-65503249 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65496844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 319 (M319K)
Ref Sequence ENSEMBL: ENSMUSP00000117085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047099] [ENSMUST00000131483] [ENSMUST00000134538] [ENSMUST00000136205] [ENSMUST00000141046] [ENSMUST00000154970]
AlphaFold Q80SX8
Predicted Effect probably damaging
Transcript: ENSMUST00000047099
AA Change: M319K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049046
Gene: ENSMUSG00000041064
AA Change: M319K

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 damaging
Transcript: ENSMUST00000131483
AA Change: M319K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117494
Gene: ENSMUSG00000041064
AA Change: M319K

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 damaging
Transcript: ENSMUST00000134538
AA Change: M319K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122060
Gene: ENSMUSG00000041064
AA Change: M319K

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 damaging
Transcript: ENSMUST00000154970
AA Change: M319K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117085
Gene: ENSMUSG00000041064
AA Change: M319K

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
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A T 15: 91,033,416 (GRCm39) probably benign Het
Adgrf1 T A 17: 43,624,086 (GRCm39) F835L probably null Het
Akp3 G T 1: 87,054,858 (GRCm39) probably benign Het
BC106179 G T 16: 23,043,037 (GRCm39) probably benign Het
Bysl C A 17: 47,912,814 (GRCm39) M325I probably benign Het
Cip2a A G 16: 48,833,551 (GRCm39) I551V probably damaging Het
Crnn A G 3: 93,055,633 (GRCm39) R140G probably benign Het
Cts8 T C 13: 61,397,010 (GRCm39) probably benign Het
Cxcr4 T C 1: 128,517,292 (GRCm39) Y121C probably damaging Het
Ddr2 T C 1: 169,812,150 (GRCm39) T691A probably benign Het
Dhx30 A T 9: 109,915,313 (GRCm39) F782I probably benign Het
Efcab5 C T 11: 77,020,756 (GRCm39) G655D probably damaging Het
Eif2ak4 G A 2: 118,252,570 (GRCm39) V381I probably benign Het
Enpp3 A T 10: 24,681,820 (GRCm39) Y295* probably null Het
Fbxo28 T C 1: 182,144,577 (GRCm39) E329G probably damaging Het
Fcgbpl1 A G 7: 27,850,127 (GRCm39) Q1191R probably benign Het
Fmnl2 T A 2: 53,013,557 (GRCm39) V972D probably damaging Het
Fmr1 A G X: 67,731,901 (GRCm39) D22G probably damaging Het
Fsip2 A G 2: 82,830,163 (GRCm39) T6886A possibly damaging Het
Gadl1 A G 9: 115,903,180 (GRCm39) *503W probably null Het
Gpc6 A T 14: 117,424,224 (GRCm39) K104I possibly damaging Het
Hecw2 T A 1: 53,866,135 (GRCm39) T1509S probably damaging Het
Lonp1 A G 17: 56,922,586 (GRCm39) L680P possibly damaging Het
Lrrc66 A T 5: 73,765,806 (GRCm39) N412K probably damaging Het
Marco C T 1: 120,422,469 (GRCm39) probably null Het
Mdga2 T C 12: 66,769,883 (GRCm39) T206A probably damaging Het
Mogat2 C A 7: 98,881,775 (GRCm39) A54S possibly damaging Het
Myh15 T A 16: 48,976,040 (GRCm39) D1369E probably benign Het
Nckap1 A T 2: 80,350,186 (GRCm39) S840T possibly damaging Het
Ncor1 C T 11: 62,216,312 (GRCm39) probably null Het
Nfrkb C A 9: 31,300,250 (GRCm39) L14I probably damaging Het
Notch1 C A 2: 26,362,917 (GRCm39) A950S probably benign Het
Notch3 T C 17: 32,362,410 (GRCm39) E1405G probably benign Het
Nsd2 C A 5: 34,000,922 (GRCm39) D146E probably damaging Het
Oc90 T C 15: 65,761,440 (GRCm39) T193A probably benign Het
Or7c70 A T 10: 78,683,431 (GRCm39) V106E probably damaging Het
Or8g50 C A 9: 39,649,011 (GRCm39) A300D probably damaging Het
Or8k40 T A 2: 86,584,843 (GRCm39) K80* probably null Het
Orc2 A T 1: 58,532,014 (GRCm39) probably null Het
Pacsin2 T C 15: 83,270,887 (GRCm39) H254R probably damaging Het
Prag1 G A 8: 36,570,200 (GRCm39) R261H possibly damaging Het
Ptprq G A 10: 107,474,700 (GRCm39) T1335I probably damaging Het
Ryr3 A G 2: 112,490,399 (GRCm39) Y3812H probably damaging Het
Sgo2b G A 8: 64,380,349 (GRCm39) Q828* probably null Het
Skint6 A G 4: 113,140,823 (GRCm39) V6A probably benign Het
Slc16a13 A G 11: 70,111,340 (GRCm39) I55T probably damaging Het
Slc22a3 A T 17: 12,644,516 (GRCm39) W490R probably damaging Het
Speer4b G T 5: 27,702,881 (GRCm39) H208N probably benign Het
Tas2r124 T C 6: 132,732,378 (GRCm39) L229S probably damaging Het
Tlr4 T C 4: 66,752,124 (GRCm39) probably benign Het
Tmed1 G T 9: 21,421,369 (GRCm39) T35K probably damaging Het
Tubgcp5 C A 7: 55,445,779 (GRCm39) probably benign Het
Ugt2b34 A G 5: 87,052,247 (GRCm39) S250P possibly damaging Het
Zfp516 A G 18: 83,011,221 (GRCm39) T1085A probably damaging Het
Znfx1 T C 2: 166,879,283 (GRCm39) I1698V probably benign Het
Zswim8 G T 14: 20,763,409 (GRCm39) W385C probably damaging Het
Other mutations in Pif1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Pif1 APN 9 65,500,559 (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
R4457:Pif1 UTSW 9 65,495,058 (GRCm39) utr 5 prime probably benign
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
Posted On 2013-10-07