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: 0.077)
|
| 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
| 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 |
noncoding transcript
Transcript: ENSMUST00000174081
|
| 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 |
|
| 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 |
|---|
| 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 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
Incidental Mutation