Mutagenetix > Incidental Mutation

Incidental Mutation 'G5030:Fv1'

503

Institutional Source

Beutler Lab

Gene Symbol

Fv1

Ensembl Gene

ENSMUSG00000070583

Gene Name

Friend virus susceptibility 1

Synonyms

Rv1, Fv-1, Rv-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

G5030 (G3) of strain 560

Quality Score

Status

Validated

Chromosome

Chromosomal Location

147953436-147954815 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 147953618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 61 (N61K)

Ref Sequence

ENSEMBL: ENSMUSP00000092054 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030884] [ENSMUST00000030886] [ENSMUST00000094481] [ENSMUST00000105715] [ENSMUST00000105716] [ENSMUST00000119975] [ENSMUST00000172710]

AlphaFold

P70213

Predicted Effect

probably benign
Transcript: ENSMUST00000030884

SMART Domains

Protein: ENSMUSP00000030884
Gene: ENSMUSG00000029020

Domain	Start	End	E-Value	Type
Pfam:MMR_HSR1	98	258	3.8e-6	PFAM
Pfam:Dynamin_N	99	259	2e-24	PFAM
low complexity region	336	347	N/A	INTRINSIC
coiled coil region	406	433	N/A	INTRINSIC
Pfam:Fzo_mitofusin	594	754	1.6e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030886

SMART Domains

Protein: ENSMUSP00000030886
Gene: ENSMUSG00000029022

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC
low complexity region	60	69	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094481
AA Change: N61K

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000092054
Gene: ENSMUSG00000070583
AA Change: N61K

Domain	Start	End	E-Value	Type
low complexity region	22	32	N/A	INTRINSIC
coiled coil region	86	116	N/A	INTRINSIC
low complexity region	438	451	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105715

SMART Domains

Protein: ENSMUSP00000101340
Gene: ENSMUSG00000029020

Domain	Start	End	E-Value	Type
Pfam:MMR_HSR1	98	258	9e-7	PFAM
Pfam:Dynamin_N	99	259	5.4e-25	PFAM
low complexity region	336	347	N/A	INTRINSIC
coiled coil region	406	433	N/A	INTRINSIC
Pfam:Fzo_mitofusin	586	756	3.9e-86	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105716

SMART Domains

Protein: ENSMUSP00000101341
Gene: ENSMUSG00000029020

Domain	Start	End	E-Value	Type
Pfam:MMR_HSR1	98	258	9e-7	PFAM
Pfam:Dynamin_N	99	259	5.4e-25	PFAM
low complexity region	336	347	N/A	INTRINSIC
coiled coil region	406	433	N/A	INTRINSIC
Pfam:Fzo_mitofusin	586	756	3.9e-86	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119975

SMART Domains

Protein: ENSMUSP00000113897
Gene: ENSMUSG00000029022

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC
Pfam:MIIP	41	382	1.4e-142	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141166

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141534

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156374

Predicted Effect

probably benign
Transcript: ENSMUST00000172710

SMART Domains

Protein: ENSMUSP00000134085
Gene: ENSMUSG00000029022

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC
low complexity region	60	69	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 81.1%
3x: 60.2%

Het Detection Efficiency

35.6%

Validation Efficiency

87% (206/237)

MGI Phenotype

PHENOTYPE: NIH Swiss, AKR and C57L are N-tropic virus susceptible and B-tropic resistant (n allele); BALB/c, A and C57BL/6 show opposite susceptibility (b allele); RF, 129, NZB and NZW have increased N-tropic resistance (nr allele); M.m. praetextus and M. spretus are susceptible to N- and B- types (o allele). [provided by MGI curators]

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 109,961,165 (GRCm39)	I585F	probably damaging	Het
Adam18	C	G	8: 25,141,872 (GRCm39)	L232F	probably benign	Homo
Atp13a4	A	G	16: 29,274,306 (GRCm39)	I385T	probably damaging	Homo
Ccdc17	T	A	4: 116,455,699 (GRCm39)	S277T	probably benign	Het
Ccng1	A	G	11: 40,644,629 (GRCm39)		probably benign	Het
Ces1f	T	C	8: 94,000,847 (GRCm39)	D99G	probably benign	Het
Clec16a	G	A	16: 10,389,425 (GRCm39)	R187Q	probably damaging	Homo
Cryl1	C	T	14: 57,579,595 (GRCm39)		probably benign	Het
Cryzl2	C	T	1: 157,292,580 (GRCm39)	Q48*	probably null	Het
Dtx4	A	G	19: 12,446,943 (GRCm39)	L583P	probably benign	Het
Ephx4	A	T	5: 107,577,693 (GRCm39)	D339V	probably damaging	Het
Eri2	A	T	7: 119,385,601 (GRCm39)	V300E	possibly damaging	Het
F3	T	A	3: 121,518,648 (GRCm39)	N37K	probably damaging	Homo
Fpr1	A	T	17: 18,097,068 (GRCm39)	L307H	probably damaging	Het
Gm5548	T	C	3: 112,961,512 (GRCm39)		noncoding transcript	Homo
Il1r1	A	G	1: 40,352,323 (GRCm39)	K498E	possibly damaging	Homo
Myh11	T	C	16: 14,068,443 (GRCm39)	I192M	probably damaging	Homo
Nckap5	T	C	1: 125,953,591 (GRCm39)	K923R	probably damaging	Het
Nmbr	A	T	10: 14,642,747 (GRCm39)	Y102F	possibly damaging	Het
Or6c75	A	G	10: 129,337,406 (GRCm39)	T218A	probably benign	Homo
Pde1a	C	T	2: 79,718,180 (GRCm39)		probably benign	Het
Pex6	T	C	17: 47,026,382 (GRCm39)		probably benign	Het
Rtn2	T	C	7: 19,027,099 (GRCm39)	S305P	probably damaging	Homo
Saal1	G	A	7: 46,342,207 (GRCm39)	T412I	probably damaging	Homo
Slc46a2	A	T	4: 59,913,867 (GRCm39)	I352N	probably damaging	Het
Trim37	A	T	11: 87,033,967 (GRCm39)	H99L	probably damaging	Het
Tubgcp4	C	T	2: 121,014,815 (GRCm39)	R242C	probably damaging	Het
Twf2	C	A	9: 106,084,141 (GRCm39)	L27I	possibly damaging	Het
Usp40	A	T	1: 87,921,941 (GRCm39)	H307Q	probably damaging	Het
Zfhx3	T	G	8: 109,678,091 (GRCm39)	V3047G	possibly damaging	Het

Other mutations in Fv1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01417:Fv1	APN	4	147,953,786 (GRCm39)	nonsense	probably null
IGL01998:Fv1	APN	4	147,953,784 (GRCm39)	missense	possibly damaging	0.83
IGL02192:Fv1	APN	4	147,954,712 (GRCm39)	missense	possibly damaging	0.90
R1501:Fv1	UTSW	4	147,954,595 (GRCm39)	missense	probably damaging	0.97
R1912:Fv1	UTSW	4	147,954,235 (GRCm39)	missense	possibly damaging	0.66
R1992:Fv1	UTSW	4	147,953,618 (GRCm39)	missense	possibly damaging	0.82
R2110:Fv1	UTSW	4	147,954,619 (GRCm39)	missense	possibly damaging	0.46
R4911:Fv1	UTSW	4	147,953,875 (GRCm39)	missense	probably benign	0.00
R5350:Fv1	UTSW	4	147,954,546 (GRCm39)	missense	possibly damaging	0.46
R5458:Fv1	UTSW	4	147,954,726 (GRCm39)	missense	probably benign	0.01
R6271:Fv1	UTSW	4	147,954,474 (GRCm39)	missense	possibly damaging	0.66
R6314:Fv1	UTSW	4	147,954,156 (GRCm39)	splice site	probably null
R6988:Fv1	UTSW	4	147,953,728 (GRCm39)	missense	possibly damaging	0.66
R7055:Fv1	UTSW	4	147,954,775 (GRCm39)	frame shift	probably null
R7595:Fv1	UTSW	4	147,954,627 (GRCm39)	missense	possibly damaging	0.66
R7632:Fv1	UTSW	4	147,954,392 (GRCm39)	missense	possibly damaging	0.82
R7766:Fv1	UTSW	4	147,953,727 (GRCm39)	missense	possibly damaging	0.66
R9070:Fv1	UTSW	4	147,954,414 (GRCm39)	missense	probably damaging	0.97
R9076:Fv1	UTSW	4	147,953,628 (GRCm39)	missense	possibly damaging	0.62
R9524:Fv1	UTSW	4	147,953,768 (GRCm39)	missense	possibly damaging	0.81
R9733:Fv1	UTSW	4	147,954,654 (GRCm39)	missense	probably benign	0.27
R9733:Fv1	UTSW	4	147,954,621 (GRCm39)	missense	probably damaging	0.98

Nature of Mutation

DNA sequencing using the SOLiD technique identified a T to A transversion at position 183 of the Fv1 transcript. The mutated nucleotide causes an asparagine to lysine substitution at amino acid 61 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Fv1 gene encodes a 459 amino acid protein that controls replication of the murine leukemia virus by interacting with the capsid protein ca after entry of the virus into the cell but before integration and formation of the provirus. Natural variants exist in various mouse strains (Uniprot P70213). NIH Swiss, AKR and C57L mouse strains are N-tropic virus susceptible and B-tropic resistant (n allele); BALB/c, A and C57BL/6 show opposite susceptibility (b allele); RF, 129, NZB and NZW have increased N-tropic resistance (nr allele); M.m. praetextus and M. spretus are susceptible to N- and B- types (o allele).

The N61K change is predicted to be possibly damaging by the PolyPhen program.

Posted On

2010-10-26