Mutagenetix > Incidental Mutation

Incidental Mutation 'R3804:Pif1'

274503

Institutional Source

Beutler Lab

Gene Symbol

Pif1

Ensembl Gene

ENSMUSG00000041064

Gene Name

PIF1 5'-to-3' DNA helicase

Synonyms

AI449441

MMRRC Submission

040879-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3804 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65494442-65503249 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65495588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 166 (V166E)

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: V166E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049046
Gene: ENSMUSG00000041064
AA Change: V166E

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: V166E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117494
Gene: ENSMUSG00000041064
AA Change: V166E

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: V166E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122060
Gene: ENSMUSG00000041064
AA Change: V166E

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: ENSMUST00000136205

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 damaging
Transcript: ENSMUST00000154970
AA Change: V166E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117085
Gene: ENSMUSG00000041064
AA Change: V166E

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

Meta Mutation Damage Score

0.1844

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	C	T	8: 79,974,922 (GRCm39)	E54K	probably benign	Het
Adgra1	A	G	7: 139,425,510 (GRCm39)	T8A	probably benign	Het
Alms1	A	G	6: 85,596,629 (GRCm39)	Y954C	probably damaging	Het
AU021092	A	C	16: 5,034,626 (GRCm39)	F199V	possibly damaging	Het
Bahcc1	C	T	11: 120,174,184 (GRCm39)	P1648L	probably benign	Het
Cacna1s	T	A	1: 136,034,756 (GRCm39)	C1319S	possibly damaging	Het
Capn13	G	A	17: 73,646,396 (GRCm39)	P339L	probably benign	Het
Ccdc39	A	T	3: 33,874,044 (GRCm39)	M596K	probably damaging	Het
Cfap418	A	G	4: 10,898,014 (GRCm39)	T199A	probably benign	Het
Cntn5	A	G	9: 9,781,668 (GRCm39)		probably benign	Het
Cyth4	A	G	15: 78,494,002 (GRCm39)	K159E	probably damaging	Het
Dgkz	C	A	2: 91,769,975 (GRCm39)	R563L	probably benign	Het
Dnah8	A	G	17: 30,889,621 (GRCm39)	E718G	probably benign	Het
Dop1a	T	C	9: 86,403,048 (GRCm39)	L1416P	probably damaging	Het
Dstyk	G	A	1: 132,377,464 (GRCm39)	A110T	probably damaging	Het
Eif1	A	G	11: 100,211,650 (GRCm39)	K95E	probably damaging	Het
Espnl	A	G	1: 91,249,943 (GRCm39)	D30G	probably benign	Het
Gast	T	C	11: 100,227,636 (GRCm39)	S73P	probably damaging	Het
Gmppb	T	C	9: 107,927,773 (GRCm39)	Y176H	probably damaging	Het
Grap2	A	G	15: 80,507,947 (GRCm39)	T4A	possibly damaging	Het
Grm8	T	G	6: 28,125,635 (GRCm39)	N164H	possibly damaging	Het
Gstm3	G	A	3: 107,871,551 (GRCm39)	T210I	probably benign	Het
Gtf3c3	A	G	1: 54,463,166 (GRCm39)		probably null	Het
Hmcn2	A	G	2: 31,242,897 (GRCm39)		probably null	Het
Icam2	A	G	11: 106,271,648 (GRCm39)	L94P	probably damaging	Het
Iqcm	C	A	8: 76,396,021 (GRCm39)	T188K	possibly damaging	Het
Jarid2	T	A	13: 45,056,307 (GRCm39)	N365K	probably benign	Het
Kank4	A	G	4: 98,668,370 (GRCm39)	S26P	probably damaging	Het
Lgr4	A	G	2: 109,838,542 (GRCm39)	K498E	probably benign	Het
Meltf	A	G	16: 31,703,816 (GRCm39)	H181R	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nf1	A	G	11: 79,450,347 (GRCm39)	D511G	probably null	Het
Nhlrc3	A	G	3: 53,366,052 (GRCm39)	V147A	possibly damaging	Het
Nrap	C	T	19: 56,310,211 (GRCm39)	D1595N	probably damaging	Het
Or1e16	T	C	11: 73,286,776 (GRCm39)	Q24R	probably benign	Het
Or5p4	A	T	7: 107,680,378 (GRCm39)	I126F	probably damaging	Het
Or6c212	T	A	10: 129,558,918 (GRCm39)	D165V	possibly damaging	Het
Or6n2	T	A	1: 173,897,474 (GRCm39)	N203K	probably damaging	Het
Pak3	G	A	X: 142,492,727 (GRCm39)	V87I	probably damaging	Het
Pgm2l1	T	C	7: 99,901,474 (GRCm39)	V121A	probably benign	Het
Phf19	A	G	2: 34,789,670 (GRCm39)	L350P	probably damaging	Het
Phf8	T	C	X: 150,355,572 (GRCm39)	S512P	possibly damaging	Het
Phkb	G	T	8: 86,648,858 (GRCm39)	E225*	probably null	Het
Plaa	T	C	4: 94,458,125 (GRCm39)	D615G	probably damaging	Het
Prpf4b	T	C	13: 35,067,665 (GRCm39)		probably benign	Het
Rxra	T	C	2: 27,646,272 (GRCm39)	C374R	probably damaging	Het
Septin3	T	C	15: 82,170,630 (GRCm39)		probably benign	Het
Skint4	G	T	4: 111,975,378 (GRCm39)	V113L	probably damaging	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Slc22a15	C	T	3: 101,804,590 (GRCm39)	G145D	probably damaging	Het
Slc28a1	A	T	7: 80,775,969 (GRCm39)	I222F	probably damaging	Het
Slc43a2	T	C	11: 75,454,424 (GRCm39)	L323P	probably benign	Het
Sorbs3	A	G	14: 70,436,800 (GRCm39)		probably benign	Het
Spink10	C	T	18: 62,786,485 (GRCm39)		probably benign	Het
Suclg2	A	T	6: 95,474,649 (GRCm39)	I372N	probably damaging	Het
Sun1	C	A	5: 139,211,117 (GRCm39)	C164*	probably null	Het
Tax1bp1	T	C	6: 52,719,770 (GRCm39)	F453L	probably benign	Het
Tmem54	A	G	4: 129,002,013 (GRCm39)	N9S	probably benign	Het
Tmx4	A	G	2: 134,462,497 (GRCm39)	W145R	probably damaging	Het
Top1	A	G	2: 160,544,688 (GRCm39)	H268R	probably damaging	Het
Ttn	A	G	2: 76,641,075 (GRCm39)	L13598P	probably damaging	Het
Vmn1r40	A	G	6: 89,691,991 (GRCm39)	I269M	probably benign	Het
Wdr7	G	T	18: 63,853,907 (GRCm39)	R80L	probably benign	Het
Zap70	A	T	1: 36,810,223 (GRCm39)	Q111L	possibly damaging	Het
Zfp808	T	A	13: 62,319,897 (GRCm39)	H375Q	probably damaging	Het
Zkscan2	A	T	7: 123,094,365 (GRCm39)		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GAGTTAATGCTGCGACTGC -3'
(R):5'- TGGGCATTTCAAATCACCAGC -3'

Sequencing Primer
(F):5'- ACCGATGGAGTCCCTGGAG -3'
(R):5'- GGCATTTCAAATCACCAGCTGTCTC -3'

Posted On

2015-04-02