Incidental Mutation 'IGL00425:Pif1'
| ID |
4860 |
| 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)
|
| Stock # |
IGL00425
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
65494442-65503249 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65500559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 495
(N495D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047099]
[ENSMUST00000131483]
[ENSMUST00000134538]
[ENSMUST00000141046]
[ENSMUST00000154970]
|
| AlphaFold |
Q80SX8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047099
AA Change: N495D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049046
Gene: ENSMUSG00000041064
AA Change: N495D
| Domain | Start | End | E-Value | Type |
|---|
|
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: N495D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117494
Gene: ENSMUSG00000041064
AA Change: N495D
| Domain | Start | End | E-Value | Type |
|---|
|
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: N495D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122060
Gene: ENSMUSG00000041064
AA Change: N495D
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000141046
|
| SMART Domains |
Protein: ENSMUSP00000120400
Gene: ENSMUSG00000041064
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
C |
T |
14: 66,311,498 (GRCm39) |
|
probably null |
Het |
| Adgrb2 |
A |
T |
4: 129,912,865 (GRCm39) |
H1373L |
probably benign |
Het |
| Adgrf4 |
A |
G |
17: 42,977,547 (GRCm39) |
S599P |
probably damaging |
Het |
| Atp9b |
G |
A |
18: 80,961,103 (GRCm39) |
|
probably benign |
Het |
| Baiap2 |
A |
G |
11: 119,872,836 (GRCm39) |
T125A |
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,404,550 (GRCm39) |
S1114P |
probably damaging |
Het |
| Ccdc159 |
T |
C |
9: 21,840,765 (GRCm39) |
S111P |
possibly damaging |
Het |
| Cd177 |
T |
A |
7: 24,459,176 (GRCm39) |
T78S |
possibly damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,321,709 (GRCm39) |
|
probably null |
Het |
| Cdkl3 |
C |
A |
11: 51,920,683 (GRCm39) |
T462K |
probably benign |
Het |
| Chid1 |
A |
C |
7: 141,102,609 (GRCm39) |
L208R |
probably damaging |
Het |
| Clca3b |
A |
G |
3: 144,542,342 (GRCm39) |
S487P |
probably benign |
Het |
| Col6a3 |
A |
T |
1: 90,709,748 (GRCm39) |
L1816Q |
unknown |
Het |
| Dido1 |
A |
G |
2: 180,325,782 (GRCm39) |
S469P |
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,734,826 (GRCm39) |
N935D |
probably benign |
Het |
| Fbxw2 |
A |
G |
2: 34,702,961 (GRCm39) |
I184T |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,253,620 (GRCm39) |
I32V |
possibly damaging |
Het |
| Hycc2 |
A |
T |
1: 58,579,412 (GRCm39) |
|
probably benign |
Het |
| Itgb8 |
G |
A |
12: 119,153,561 (GRCm39) |
T318I |
probably damaging |
Het |
| Kcnb2 |
A |
G |
1: 15,781,236 (GRCm39) |
S703G |
probably benign |
Het |
| Kif26b |
A |
T |
1: 178,743,866 (GRCm39) |
S1321C |
probably damaging |
Het |
| Klb |
A |
G |
5: 65,529,717 (GRCm39) |
N415S |
possibly damaging |
Het |
| Megf10 |
C |
A |
18: 57,373,700 (GRCm39) |
A166D |
probably damaging |
Het |
| Mrm3 |
T |
G |
11: 76,135,319 (GRCm39) |
S177A |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,539,368 (GRCm39) |
F2011S |
probably benign |
Het |
| Nipal1 |
C |
T |
5: 72,816,067 (GRCm39) |
S30L |
probably benign |
Het |
| Ogdhl |
T |
C |
14: 32,068,447 (GRCm39) |
Y895H |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,548,182 (GRCm39) |
|
probably null |
Het |
| Pygl |
T |
C |
12: 70,237,866 (GRCm39) |
D724G |
probably damaging |
Het |
| Runx1t1 |
A |
G |
4: 13,835,663 (GRCm39) |
D40G |
probably benign |
Het |
| Serhl |
A |
T |
15: 82,989,838 (GRCm39) |
D192V |
possibly damaging |
Het |
| Slc12a5 |
C |
T |
2: 164,825,201 (GRCm39) |
A461V |
probably damaging |
Het |
| Tomm34 |
A |
T |
2: 163,900,582 (GRCm39) |
|
probably benign |
Het |
| Zfp54 |
A |
G |
17: 21,650,559 (GRCm39) |
N45D |
probably damaging |
Het |
|
| Other mutations in Pif1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation