Incidental Mutation 'IGL02192:Fv1'
ID283929
Institutional Source Australian Phenomics Network (link to record)
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: 0.104) question?
Stock #IGL02192
Quality Score
Status
Chromosome4
Chromosomal Location147868979-147870358 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 147870255 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 426 (D426G)
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: D426G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092054
Gene: ENSMUSG00000070583
AA Change: D426G

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
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,898,400 M545K possibly damaging Het
Adamtsl1 A G 4: 86,228,016 E303G probably damaging Het
Anxa13 A T 15: 58,348,780 noncoding transcript Het
Ap2b1 C T 11: 83,346,766 T552I possibly damaging Het
Cars T C 7: 143,571,588 S388G probably damaging Het
Cdh18 A T 15: 23,460,316 D544V probably damaging Het
Chat T C 14: 32,423,322 R377G possibly damaging Het
Col14a1 A G 15: 55,362,402 T154A unknown Het
Col9a1 C T 1: 24,221,987 P311S probably damaging Het
Cpsf3 G T 12: 21,310,193 probably benign Het
Cpsf3 G T 12: 21,310,196 probably null Het
Dock8 T C 19: 25,078,205 probably null Het
Eml6 A G 11: 29,805,743 I837T probably benign Het
Epb41 T C 4: 131,929,717 T792A probably damaging Het
Exph5 A T 9: 53,376,325 R1569* probably null Het
F13b A T 1: 139,517,333 T574S probably damaging Het
Fam160a1 A G 3: 85,673,326 L524P possibly damaging Het
Fam184b G T 5: 45,537,720 D727E probably benign Het
Fhod3 T C 18: 25,056,358 L619P probably damaging Het
Fsd1l A G 4: 53,647,754 I66V probably benign Het
Gm3371 A T 14: 44,403,778 probably benign Het
Hnf1a A T 5: 114,960,118 S142T probably damaging Het
Itgb3 A G 11: 104,643,939 I541V probably benign Het
Itgbl1 G T 14: 123,843,926 C239F probably damaging Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Larp1b G T 3: 40,967,494 S116I probably benign Het
Lmtk3 A G 7: 45,794,509 probably benign Het
Mapk10 T C 5: 102,989,647 I235V probably damaging Het
Mctp1 C T 13: 76,731,768 probably benign Het
Megf8 G A 7: 25,353,860 D1819N probably damaging Het
Muc6 T C 7: 141,637,804 T2254A possibly damaging Het
Nbr1 T A 11: 101,569,591 S444T probably damaging Het
Ncor2 A T 5: 125,024,237 D1956E probably damaging Het
Ndufaf5 T C 2: 140,188,743 V183A probably benign Het
Nfasc G A 1: 132,570,481 T1155M probably damaging Het
Nol12 A G 15: 78,937,174 E78G probably damaging Het
Npy5r T A 8: 66,681,346 H265L probably benign Het
Olfr1008 G A 2: 85,690,128 G233D possibly damaging Het
Olfr418 T A 1: 173,270,850 L225H probably damaging Het
Pop1 A G 15: 34,529,071 E749G probably benign Het
Ppil3 T C 1: 58,438,388 I66V probably damaging Het
Prl4a1 C A 13: 28,018,571 T43K possibly damaging Het
Prop1 A G 11: 50,953,286 probably benign Het
Qrsl1 A T 10: 43,885,014 I218N probably damaging Het
Rbm22 T A 18: 60,564,412 M63K possibly damaging Het
Rictor T C 15: 6,786,414 S1056P probably benign Het
Rps6kb2 T C 19: 4,157,588 T388A probably damaging Het
Slc7a5 A G 8: 121,886,390 probably benign Het
Sp100 A T 1: 85,708,001 D509V probably damaging Het
Spata18 G T 5: 73,672,518 probably null Het
Sspo C A 6: 48,459,568 T1254K possibly damaging Het
Stk19 A G 17: 34,832,158 probably benign Het
Taar8b T A 10: 24,091,364 I311F probably damaging Het
Themis2 C A 4: 132,783,347 probably null Het
Tll2 T C 19: 41,086,263 Y937C possibly damaging Het
Trim34a T A 7: 104,247,732 M1K probably null Het
Usp50 G A 2: 126,778,038 T118I possibly damaging Het
Vps13d G A 4: 145,148,858 S1693F probably benign Het
Vps16 T A 2: 130,440,932 I467N probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null 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
G5030:Fv1 UTSW 4 147869161 missense possibly damaging 0.82
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
Posted On2015-04-16