Incidental Mutation 'G5030:Fv1'
ID503
Institutional Source Beutler Lab
Gene Symbol Fv1
Ensembl Gene ENSMUSG00000070583
Gene NameFriend virus susceptibility 1
SynonymsRv1, Rv-1, Fv-1
Accession Numbers

Genbank: NM_010244

Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #G5030 (G3) of strain 560
Quality Score
Status Validated
Chromosome4
Chromosomal Location147868979-147870358 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 147869161 bp
ZygosityHeterozygous
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]
Predicted Effect probably benign
Transcript: ENSMUST00000030884
SMART Domains Protein: ENSMUSP00000030884
Gene: ENSMUSG00000029020

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000156374
Predicted Effect probably benign
Transcript: ENSMUST00000172710
SMART Domains Protein: ENSMUSP00000134085
Gene: ENSMUSG00000029022

DomainStartEndE-ValueType
low complexity region 13 24 N/A INTRINSIC
low complexity region 60 69 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174081
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 81.1%
  • 3x: 60.2%
Het Detection Efficiency35.6%
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T A 11: 110,070,339 I585F probably damaging Het
Adam18 C G 8: 24,651,856 L232F probably benign Homo
Atp13a4 A G 16: 29,455,488 I385T probably damaging Homo
Ccdc17 T A 4: 116,598,502 S277T probably benign Het
Ccng1 A G 11: 40,753,802 probably benign Het
Ces1f T C 8: 93,274,219 D99G probably benign Het
Clec16a G A 16: 10,571,561 R187Q probably damaging Homo
Cryl1 C T 14: 57,342,138 probably benign Het
Cryzl2 C T 1: 157,465,010 Q48* probably null Het
Dtx4 A G 19: 12,469,579 L583P probably benign Het
Ephx4 A T 5: 107,429,827 D339V probably damaging Het
Eri2 A T 7: 119,786,378 V300E possibly damaging Het
F3 T A 3: 121,724,999 N37K probably damaging Homo
Fpr1 A T 17: 17,876,806 L307H probably damaging Het
Gm5548 T C 3: 113,054,196 noncoding transcript Homo
Il1r1 A G 1: 40,313,163 K498E possibly damaging Homo
Myh11 T C 16: 14,250,579 I192M probably damaging Homo
Nckap5 T C 1: 126,025,854 K923R probably damaging Het
Nmbr A T 10: 14,767,003 Y102F possibly damaging Het
Olfr790 A G 10: 129,501,537 T218A probably benign Homo
Pde1a C T 2: 79,887,836 probably benign Het
Pex6 T C 17: 46,715,456 probably benign Het
Rtn2 T C 7: 19,293,174 S305P probably damaging Homo
Saal1 G A 7: 46,692,783 T412I probably damaging Homo
Slc46a2 A T 4: 59,913,867 I352N probably damaging Het
Trim37 A T 11: 87,143,141 H99L probably damaging Het
Tubgcp4 C T 2: 121,184,334 R242C probably damaging Het
Twf2 C A 9: 106,206,942 L27I possibly damaging Het
Usp40 A T 1: 87,994,219 H307Q probably damaging Het
Zfhx3 T G 8: 108,951,459 V3047G possibly damaging Het
Other mutations in Fv1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01417:Fv1 APN 4 147869329 nonsense probably null
IGL01998:Fv1 APN 4 147869327 missense possibly damaging 0.83
IGL02192:Fv1 APN 4 147870255 missense possibly damaging 0.90
R1501:Fv1 UTSW 4 147870138 missense probably damaging 0.97
R1912:Fv1 UTSW 4 147869778 missense possibly damaging 0.66
R1992:Fv1 UTSW 4 147869161 missense possibly damaging 0.82
R2110:Fv1 UTSW 4 147870162 missense possibly damaging 0.46
R4911:Fv1 UTSW 4 147869418 missense probably benign 0.00
R5350:Fv1 UTSW 4 147870089 missense possibly damaging 0.46
R5458:Fv1 UTSW 4 147870269 missense probably benign 0.01
R6271:Fv1 UTSW 4 147870017 missense possibly damaging 0.66
R6314:Fv1 UTSW 4 147869699 unclassified probably null
R6988:Fv1 UTSW 4 147869271 missense possibly damaging 0.66
R7055:Fv1 UTSW 4 147870318 frame shift probably null
R7595:Fv1 UTSW 4 147870170 missense possibly damaging 0.66
R7632:Fv1 UTSW 4 147869935 missense possibly damaging 0.82
R7766:Fv1 UTSW 4 147869270 missense possibly damaging 0.66
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 On2010-10-26