Incidental Mutation 'IGL01998:Fv1'
ID 182962
Institutional Source Australian Phenomics Network (link to record)
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: 0.071) question?
Stock # IGL01998
Quality Score
Status
Chromosome 4
Chromosomal Location 147953436-147954815 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 147953784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 117 (C117R)
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

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: C117R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000092054
Gene: ENSMUSG00000070583
AA Change: C117R

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 noncoding transcript
Transcript: ENSMUST00000174081
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
Coding Region Coverage
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arpc3 T C 5: 122,541,470 (GRCm39) C78R probably damaging Het
Atp6v0b A G 4: 117,743,263 (GRCm39) probably null Het
B3gnt8 A G 7: 25,328,203 (GRCm39) Y211C probably damaging Het
Birc6 T C 17: 74,886,880 (GRCm39) I736T probably benign Het
Bltp1 T C 3: 37,011,165 (GRCm39) S1788P possibly damaging Het
Bpifb9a T C 2: 154,110,120 (GRCm39) probably null Het
C3ar1 A T 6: 122,827,899 (GRCm39) M106K probably damaging Het
C9orf72 A T 4: 35,194,179 (GRCm39) D205E probably benign Het
Cab39l T A 14: 59,734,344 (GRCm39) L21Q probably damaging Het
Casp1 A T 9: 5,303,043 (GRCm39) I166F probably damaging Het
Cd180 A G 13: 102,841,722 (GRCm39) E256G probably damaging Het
Clca4a T C 3: 144,663,887 (GRCm39) T519A probably damaging Het
Clstn3 A T 6: 124,435,622 (GRCm39) L233Q probably damaging Het
Crlf3 G A 11: 79,948,845 (GRCm39) probably benign Het
Depdc5 T C 5: 33,102,495 (GRCm39) probably benign Het
Drc7 T A 8: 95,785,821 (GRCm39) C226S probably damaging Het
Epha5 T A 5: 84,232,593 (GRCm39) D807V probably damaging Het
Fat2 A G 11: 55,187,021 (GRCm39) L1275P probably benign Het
Ighg2b C A 12: 113,270,709 (GRCm39) M140I unknown Het
Klra5 A T 6: 129,883,676 (GRCm39) Y60* probably null Het
Lmtk2 C T 5: 144,112,883 (GRCm39) T1201I probably damaging Het
Ncapd2 A T 6: 125,150,078 (GRCm39) S917T probably benign Het
Ncapd2 A T 6: 125,146,896 (GRCm39) L1230H probably damaging Het
Nfx1 T A 4: 41,004,353 (GRCm39) I708N probably damaging Het
Notch2 A T 3: 98,050,422 (GRCm39) D1899V probably damaging Het
Npepl1 T A 2: 173,957,993 (GRCm39) probably benign Het
Nps T A 7: 134,870,481 (GRCm39) probably benign Het
Nrg1 T C 8: 32,408,162 (GRCm39) S24G probably damaging Het
Or1j20 A G 2: 36,759,658 (GRCm39) N27D probably benign Het
Or2ag16 G A 7: 106,351,758 (GRCm39) T279M possibly damaging Het
Or2t48 A T 11: 58,420,403 (GRCm39) Y136* probably null Het
Or4k2 C A 14: 50,424,105 (GRCm39) V190L probably benign Het
Pigx G T 16: 31,903,428 (GRCm39) T211K probably benign Het
Pink1 A G 4: 138,048,053 (GRCm39) I223T probably damaging Het
Plat G A 8: 23,257,163 (GRCm39) A15T probably benign Het
Ptges2 G A 2: 32,291,542 (GRCm39) A310T possibly damaging Het
Rsl1d1 A G 16: 11,012,509 (GRCm39) S306P possibly damaging Het
Rxfp1 T C 3: 79,567,403 (GRCm39) K316E probably benign Het
Scn10a A G 9: 119,438,742 (GRCm39) I1708T probably damaging Het
Sdk2 A T 11: 113,729,358 (GRCm39) F1073Y probably damaging Het
Sp100 A G 1: 85,594,650 (GRCm39) D170G probably benign Het
Spock1 A T 13: 57,583,994 (GRCm39) probably benign Het
Strbp A G 2: 37,515,297 (GRCm39) L243P probably damaging Het
Tex55 A T 16: 38,648,586 (GRCm39) D174E probably benign Het
Tgm5 T A 2: 120,882,920 (GRCm39) T446S probably damaging Het
Tmem59l C T 8: 70,937,431 (GRCm39) V239I probably benign Het
Trav8-1 A T 14: 53,707,662 (GRCm39) T101S probably benign Het
Triml1 T C 8: 43,594,350 (GRCm39) D27G probably damaging Het
Vmn2r54 T C 7: 12,349,227 (GRCm39) E785G probably benign Het
Vps13c A G 9: 67,862,350 (GRCm39) probably null Het
Wwp2 C T 8: 108,276,153 (GRCm39) R64C probably damaging Het
Zfp608 T C 18: 55,024,890 (GRCm39) H1460R probably damaging Het
Other mutations in Fv1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01417:Fv1 APN 4 147,953,786 (GRCm39) nonsense probably null
IGL02192:Fv1 APN 4 147,954,712 (GRCm39) missense possibly damaging 0.90
G5030:Fv1 UTSW 4 147,953,618 (GRCm39) missense possibly damaging 0.82
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
Posted On 2014-05-07