Mutagenetix > Incidental Mutation

Incidental Mutation 'R6703:Pif1'

528291

Institutional Source

Beutler Lab

Gene Symbol

Pif1

Ensembl Gene

ENSMUSG00000041064

Gene Name

PIF1 5'-to-3' DNA helicase

Synonyms

AI449441

MMRRC Submission

044821-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6703 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65494442-65503249 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65500545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 490 (V490A)

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: V490A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000049046
Gene: ENSMUSG00000041064
AA Change: V490A

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: V490A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000117494
Gene: ENSMUSG00000041064
AA Change: V490A

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: V490A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122060
Gene: ENSMUSG00000041064
AA Change: V490A

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

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.0%

Validation Efficiency

99% (73/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,497,558 (GRCm39)	Y66*	probably null	Het
Akap13	T	C	7: 75,252,646 (GRCm39)	S259P	probably damaging	Het
Aoc1	A	C	6: 48,882,648 (GRCm39)	T197P	probably damaging	Het
Blnk	A	T	19: 40,950,950 (GRCm39)		probably null	Het
Ccser1	A	T	6: 61,615,495 (GRCm39)	K94*	probably null	Het
Cfap54	T	A	10: 92,704,596 (GRCm39)	D2828V	unknown	Het
Clec4n	A	G	6: 123,212,553 (GRCm39)	Q89R	probably null	Het
Col6a3	T	C	1: 90,707,161 (GRCm39)	D1984G	unknown	Het
Col6a3	C	T	1: 90,720,184 (GRCm39)	R1552Q	probably benign	Het
Csnk2a1	A	G	2: 152,100,608 (GRCm39)	T93A	probably benign	Het
Dna2	T	A	10: 62,809,073 (GRCm39)	I1055N	possibly damaging	Het
Dnm3	A	G	1: 162,146,256 (GRCm39)	F296L	probably benign	Het
Dock7	T	C	4: 98,834,909 (GRCm39)	E1822G	probably damaging	Het
Dpyd	A	T	3: 118,690,849 (GRCm39)		probably null	Het
Dyrk4	A	T	6: 126,867,045 (GRCm39)	I329N	probably damaging	Het
E4f1	C	A	17: 24,666,105 (GRCm39)	R231L	probably damaging	Het
Fat1	A	G	8: 45,406,083 (GRCm39)	T945A	probably benign	Het
Fkbp7	A	T	2: 76,502,106 (GRCm39)	M99K	probably damaging	Het
Flad1	T	C	3: 89,315,897 (GRCm39)	S222G	probably benign	Het
H1f7	C	A	15: 98,155,153 (GRCm39)		probably benign	Het
Ighg2b	T	C	12: 113,268,653 (GRCm39)		probably benign	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Itln1	C	T	1: 171,358,151 (GRCm39)	C199Y	probably damaging	Het
Kctd3	G	A	1: 188,728,726 (GRCm39)	R137C	probably damaging	Het
Lamp5	C	G	2: 135,901,483 (GRCm39)	N102K	possibly damaging	Het
Larp7	C	T	3: 127,337,873 (GRCm39)	M395I	probably damaging	Het
Lpcat3	C	T	6: 124,640,185 (GRCm39)	A5V	probably benign	Het
Lrrc43	C	T	5: 123,637,532 (GRCm39)	T233M	possibly damaging	Het
Map4k1	T	G	7: 28,701,821 (GRCm39)	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,773,525 (GRCm39)	C134S	possibly damaging	Het
Mgst2	T	C	3: 51,572,033 (GRCm39)		probably null	Het
Mug2	T	G	6: 122,055,653 (GRCm39)	I1112R	probably benign	Het
Myo15a	A	G	11: 60,383,818 (GRCm39)	I1622V	probably benign	Het
Ndor1	A	G	2: 25,139,902 (GRCm39)	F142S	possibly damaging	Het
Nectin3	A	G	16: 46,284,205 (GRCm39)	S160P	probably damaging	Het
Nudt16l2	T	C	9: 105,021,758 (GRCm39)	Y96C	possibly damaging	Het
Nynrin	A	G	14: 56,101,935 (GRCm39)	T535A	possibly damaging	Het
Or2m13	T	C	16: 19,226,122 (GRCm39)	I215V	probably benign	Het
Or4k15	A	G	14: 50,364,688 (GRCm39)	Y218C	probably damaging	Het
Or4k42	T	A	2: 111,320,454 (GRCm39)		probably null	Het
Or8b51	A	T	9: 38,569,073 (GRCm39)	I205N	possibly damaging	Het
Pcdh10	G	A	3: 45,335,734 (GRCm39)	V683M	possibly damaging	Het
Per2	C	T	1: 91,355,671 (GRCm39)	E696K	probably damaging	Het
Plekhn1	A	T	4: 156,309,250 (GRCm39)	Y219N	probably benign	Het
Ppl	T	G	16: 4,907,328 (GRCm39)	E989A	probably damaging	Het
Prkdc	T	G	16: 15,488,392 (GRCm39)	S505A	probably benign	Het
Psg16	T	C	7: 16,824,321 (GRCm39)	L35P	probably damaging	Het
Ptges	A	G	2: 30,793,133 (GRCm39)	V33A	possibly damaging	Het
Qser1	G	A	2: 104,607,670 (GRCm39)	T1416I	possibly damaging	Het
Rab3a	A	G	8: 71,209,095 (GRCm39)	D77G	probably damaging	Het
Rtn3	A	T	19: 7,412,410 (GRCm39)	V788D	probably damaging	Het
Rtn4r	T	C	16: 17,969,055 (GRCm39)	L161P	probably damaging	Het
Rtn4rl1	G	A	11: 75,156,354 (GRCm39)	R262Q	probably benign	Het
S1pr3	A	T	13: 51,573,475 (GRCm39)	I219F	probably damaging	Het
Sec23b	A	T	2: 144,401,109 (GRCm39)		probably null	Het
Senp6	A	G	9: 80,029,203 (GRCm39)	E522G	probably damaging	Het
Slc27a6	A	G	18: 58,742,911 (GRCm39)	N533S	probably benign	Het
Slc39a5	T	A	10: 128,233,651 (GRCm39)	D282V	probably damaging	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Snx14	A	G	9: 88,304,967 (GRCm39)	I109T	probably damaging	Het
Sorl1	A	T	9: 41,982,497 (GRCm39)	V361E	probably damaging	Het
Sox5	G	T	6: 143,779,191 (GRCm39)	S648R	probably damaging	Het
Sptbn2	G	A	19: 4,799,842 (GRCm39)	S2161N	probably benign	Het
Sptbn2	C	A	19: 4,799,843 (GRCm39)	S2161R	probably benign	Het
St6galnac2	A	G	11: 116,575,213 (GRCm39)	S209P	probably benign	Het
Tmub1	T	C	5: 24,651,944 (GRCm39)	S7G	probably benign	Het
Trarg1	A	T	11: 76,584,988 (GRCm39)		probably null	Het
Trpm5	C	A	7: 142,623,055 (GRCm39)		probably benign	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Zfp438	A	G	18: 5,214,044 (GRCm39)	S305P	probably benign	Het
Zfp780b	T	C	7: 27,671,066 (GRCm39)	T81A	possibly damaging	Het

Other mutations in Pif1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CCCCTTTGACACAAGATAAGGTC -3'
(R):5'- GTGATACCACACAGGAACCG -3'

Sequencing Primer
(F):5'- CAAGATAAGGTCAAGATATTTCCAGG -3'
(R):5'- GGCATTGAGAAGTCCCACCTTTTAG -3'

Posted On

2018-07-24