Incidental Mutation 'R7766:Fv1'
| ID |
598229 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fv1
|
| Ensembl Gene |
ENSMUSG00000070583 |
| Gene Name |
Friend virus susceptibility 1 |
| Synonyms |
Rv1, Fv-1, Rv-1 |
| MMRRC Submission |
045822-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R7766 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
147953436-147954815 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 147953727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 98
(F98I)
|
| 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: F98I
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000092054
Gene: ENSMUSG00000070583
AA Change: F98I
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (48/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,615,300 (GRCm39) |
F58S |
probably benign |
Het |
| Abca2 |
T |
A |
2: 25,331,540 (GRCm39) |
M1309K |
probably benign |
Het |
| Ascc1 |
A |
T |
10: 59,840,641 (GRCm39) |
M1L |
probably damaging |
Het |
| Ccdc85b |
A |
T |
19: 5,506,880 (GRCm39) |
S182R |
probably damaging |
Het |
| Cnpy3 |
G |
T |
17: 47,048,161 (GRCm39) |
Q185K |
possibly damaging |
Het |
| Cyp3a41a |
A |
G |
5: 145,654,827 (GRCm39) |
Y25H |
probably damaging |
Het |
| Dscam |
A |
T |
16: 96,592,101 (GRCm39) |
F725I |
probably benign |
Het |
| Duox1 |
T |
C |
2: 122,167,782 (GRCm39) |
F1022L |
probably benign |
Het |
| Ednrb |
A |
G |
14: 104,080,725 (GRCm39) |
L63P |
probably benign |
Het |
| Egr4 |
C |
T |
6: 85,489,181 (GRCm39) |
G293D |
probably damaging |
Het |
| Gfm2 |
C |
T |
13: 97,286,908 (GRCm39) |
S169F |
probably damaging |
Het |
| Hexim2 |
C |
G |
11: 103,029,838 (GRCm39) |
P297A |
probably benign |
Het |
| Hnrnpab |
G |
A |
11: 51,492,293 (GRCm39) |
T314I |
unknown |
Het |
| Ift88 |
T |
C |
14: 57,685,111 (GRCm39) |
F309S |
possibly damaging |
Het |
| Ins2 |
T |
A |
7: 142,232,494 (GRCm39) |
T97S |
probably benign |
Het |
| Itga2 |
T |
C |
13: 114,990,427 (GRCm39) |
I905V |
probably benign |
Het |
| Itgb8 |
T |
C |
12: 119,127,094 (GRCm39) |
Y720C |
probably damaging |
Het |
| Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
| Kcna6 |
T |
A |
6: 126,716,682 (GRCm39) |
D69V |
probably damaging |
Het |
| Kcp |
A |
G |
6: 29,496,846 (GRCm39) |
C588R |
probably damaging |
Het |
| Lrrc17 |
A |
T |
5: 21,766,042 (GRCm39) |
T175S |
probably benign |
Het |
| Morc2b |
A |
T |
17: 33,357,397 (GRCm39) |
M125K |
probably benign |
Het |
| Ms4a4b |
A |
C |
19: 11,427,352 (GRCm39) |
M24L |
probably benign |
Het |
| Myh13 |
A |
C |
11: 67,249,155 (GRCm39) |
S1292R |
probably benign |
Het |
| Nat10 |
T |
C |
2: 103,556,052 (GRCm39) |
D923G |
probably benign |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nipbl |
T |
C |
15: 8,326,333 (GRCm39) |
I2425M |
probably benign |
Het |
| Oasl1 |
G |
T |
5: 115,075,169 (GRCm39) |
A410S |
probably damaging |
Het |
| Or52d1 |
T |
A |
7: 103,756,201 (GRCm39) |
C238* |
probably null |
Het |
| Or5p80 |
C |
T |
7: 108,229,583 (GRCm39) |
S128F |
probably benign |
Het |
| Or9g4b |
T |
A |
2: 85,616,002 (GRCm39) |
I49N |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,458,286 (GRCm39) |
K507E |
probably benign |
Het |
| Pdcl2 |
T |
C |
5: 76,465,743 (GRCm39) |
N159S |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,736,809 (GRCm39) |
K445E |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,045,474 (GRCm39) |
S1028P |
probably benign |
Het |
| Polb |
T |
C |
8: 23,143,107 (GRCm39) |
S30G |
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,425,809 (GRCm39) |
I45F |
probably damaging |
Het |
| Slc17a6 |
A |
T |
7: 51,318,914 (GRCm39) |
I519F |
probably benign |
Het |
| Tacc2 |
C |
T |
7: 130,345,328 (GRCm39) |
H2582Y |
probably damaging |
Het |
| Tmem176a |
A |
T |
6: 48,821,116 (GRCm39) |
|
probably null |
Het |
| Tnr |
A |
T |
1: 159,715,880 (GRCm39) |
T881S |
probably benign |
Het |
| Trp63 |
A |
T |
16: 25,686,969 (GRCm39) |
R394S |
probably damaging |
Het |
| Tsga8 |
A |
G |
X: 82,530,704 (GRCm39) |
L135P |
unknown |
Het |
| Ttn |
T |
C |
2: 76,645,042 (GRCm39) |
T12938A |
probably damaging |
Het |
| Ugt2b35 |
A |
T |
5: 87,149,061 (GRCm39) |
D104V |
possibly damaging |
Het |
| Usp28 |
T |
C |
9: 48,947,183 (GRCm39) |
S835P |
probably damaging |
Het |
| Vmn2r44 |
A |
T |
7: 8,371,219 (GRCm39) |
V609E |
probably damaging |
Het |
| Zfp180 |
A |
G |
7: 23,804,084 (GRCm39) |
S168G |
probably benign |
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 |
|
|
IGL01998:Fv1
|
APN |
4 |
147,953,784 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGAATTTGGATCCGAGGC -3'
(R):5'- CTTTCCTCAGACAAGGATGGAG -3'
Sequencing Primer
(F):5'- AGATGAATTTCCCACGTGCG -3'
(R):5'- AGACAGTGGGCAACTCAGCTTC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation