Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01998:Fv1'

182962

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fv1

Ensembl Gene

ENSMUSG00000070583

Gene Name

Friend virus susceptibility 1

Synonyms

Rv1, Rv-1, Fv-1

Accession Numbers

Genbank: NM_010244

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

IGL01998

Quality Score

Status

Chromosome

Chromosomal Location

147868979-147870358 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 147869327 bp (GRCm38)

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

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: C117R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000092054
Gene: ENSMUSG00000070583
AA Change: C117R

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: 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

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	A	T	4: 35,194,179	D205E	probably benign	Het
4930435E12Rik	A	T	16: 38,828,224	D174E	probably benign	Het
4932438A13Rik	T	C	3: 36,957,016	S1788P	possibly damaging	Het
Arpc3	T	C	5: 122,403,407	C78R	probably damaging	Het
Atp6v0b	A	G	4: 117,886,066		probably null	Het
B3gnt8	A	G	7: 25,628,778	Y211C	probably damaging	Het
Birc6	T	C	17: 74,579,885	I736T	probably benign	Het
Bpifb9a	T	C	2: 154,268,200		probably null	Het
C3ar1	A	T	6: 122,850,940	M106K	probably damaging	Het
Cab39l	T	A	14: 59,496,895	L21Q	probably damaging	Het
Casp1	A	T	9: 5,303,043	I166F	probably damaging	Het
Cd180	A	G	13: 102,705,214	E256G	probably damaging	Het
Clca4a	T	C	3: 144,958,126	T519A	probably damaging	Het
Clstn3	A	T	6: 124,458,663	L233Q	probably damaging	Het
Crlf3	G	A	11: 80,058,019		probably benign	Het
Depdc5	T	C	5: 32,945,151		probably benign	Het
Drc7	T	A	8: 95,059,193	C226S	probably damaging	Het
Epha5	T	A	5: 84,084,734	D807V	probably damaging	Het
Fat2	A	G	11: 55,296,195	L1275P	probably benign	Het
Ighg2b	C	A	12: 113,307,089	M140I	unknown	Het
Klra5	A	T	6: 129,906,713	Y60*	probably null	Het
Lmtk2	C	T	5: 144,176,065	T1201I	probably damaging	Het
Ncapd2	A	T	6: 125,169,933	L1230H	probably damaging	Het
Ncapd2	A	T	6: 125,173,115	S917T	probably benign	Het
Nfx1	T	A	4: 41,004,353	I708N	probably damaging	Het
Notch2	A	T	3: 98,143,106	D1899V	probably damaging	Het
Npepl1	T	A	2: 174,116,200		probably benign	Het
Nps	T	A	7: 135,268,752		probably benign	Het
Nrg1	T	C	8: 31,918,134	S24G	probably damaging	Het
Olfr330	A	T	11: 58,529,577	Y136*	probably null	Het
Olfr352	A	G	2: 36,869,646	N27D	probably benign	Het
Olfr698	G	A	7: 106,752,551	T279M	possibly damaging	Het
Olfr730	C	A	14: 50,186,648	V190L	probably benign	Het
Pigx	G	T	16: 32,084,610	T211K	probably benign	Het
Pink1	A	G	4: 138,320,742	I223T	probably damaging	Het
Plat	G	A	8: 22,767,147	A15T	probably benign	Het
Ptges2	G	A	2: 32,401,530	A310T	possibly damaging	Het
Rsl1d1	A	G	16: 11,194,645	S306P	possibly damaging	Het
Rxfp1	T	C	3: 79,660,096	K316E	probably benign	Het
Scn10a	A	G	9: 119,609,676	I1708T	probably damaging	Het
Sdk2	A	T	11: 113,838,532	F1073Y	probably damaging	Het
Sp100	A	G	1: 85,666,929	D170G	probably benign	Het
Spock1	A	T	13: 57,436,181		probably benign	Het
Strbp	A	G	2: 37,625,285	L243P	probably damaging	Het
Tgm5	T	A	2: 121,052,439	T446S	probably damaging	Het
Tmem59l	C	T	8: 70,484,781	V239I	probably benign	Het
Trav8-1	A	T	14: 53,470,205	T101S	probably benign	Het
Triml1	T	C	8: 43,141,313	D27G	probably damaging	Het
Vmn2r54	T	C	7: 12,615,300	E785G	probably benign	Het
Vps13c	A	G	9: 67,955,068		probably null	Het
Wwp2	C	T	8: 107,549,521	R64C	probably damaging	Het
Zfp608	T	C	18: 54,891,818	H1460R	probably damaging	Het

Other mutations in Fv1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01417:Fv1	APN	4	147869329	nonsense	probably null
IGL02192:Fv1	APN	4	147870255	missense	possibly damaging	0.90
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	splice site	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
R9070:Fv1	UTSW	4	147869957	missense	probably damaging	0.97
R9076:Fv1	UTSW	4	147869171	missense	possibly damaging	0.62
R9524:Fv1	UTSW	4	147869311	missense	possibly damaging	0.81
R9733:Fv1	UTSW	4	147870164	missense	probably damaging	0.98
R9733:Fv1	UTSW	4	147870197	missense	probably benign	0.27

Posted On

2014-05-07