Incidental Mutation 'R5350:Fv1'
| ID |
423742 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fv1
|
| Ensembl Gene |
ENSMUSG00000070583 |
| Gene Name |
Friend virus susceptibility 1 |
| Synonyms |
Rv1, Fv-1, Rv-1 |
| MMRRC Submission |
042929-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R5350 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
147953436-147954815 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 147954546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 371
(V371L)
|
| 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: V371L
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000092054
Gene: ENSMUSG00000070583
AA Change: V371L
| 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: ENSMUST00000156374
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141534
|
| 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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
| Abca9 |
A |
G |
11: 110,006,364 (GRCm39) |
V1247A |
probably benign |
Het |
| Acaca |
A |
T |
11: 84,106,699 (GRCm39) |
M133L |
probably damaging |
Het |
| Acacb |
C |
T |
5: 114,382,612 (GRCm39) |
A2100V |
probably damaging |
Het |
| Adamts16 |
T |
A |
13: 70,901,315 (GRCm39) |
K921* |
probably null |
Het |
| Ankrd55 |
T |
G |
13: 112,472,760 (GRCm39) |
V144G |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,115,088 (GRCm39) |
L976P |
probably damaging |
Het |
| Atg2a |
T |
A |
19: 6,301,368 (GRCm39) |
V814E |
probably damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,736,199 (GRCm39) |
M960K |
probably damaging |
Het |
| Bag1 |
C |
T |
4: 40,948,007 (GRCm39) |
G66S |
possibly damaging |
Het |
| Bmp8a |
A |
T |
4: 123,207,088 (GRCm39) |
M391K |
probably damaging |
Het |
| Capns1 |
C |
A |
7: 29,889,551 (GRCm39) |
R216L |
probably damaging |
Het |
| Cdk13 |
T |
C |
13: 17,978,515 (GRCm39) |
|
probably benign |
Het |
| Cmtm3 |
T |
C |
8: 105,070,465 (GRCm39) |
F75L |
probably damaging |
Het |
| Cops4 |
T |
A |
5: 100,666,405 (GRCm39) |
D21E |
possibly damaging |
Het |
| Dach1 |
G |
T |
14: 98,207,395 (GRCm39) |
A318E |
probably damaging |
Het |
| Ddx27 |
A |
G |
2: 166,869,780 (GRCm39) |
|
probably benign |
Het |
| Disp2 |
A |
G |
2: 118,618,056 (GRCm39) |
T201A |
probably benign |
Het |
| Dnah2 |
G |
T |
11: 69,406,862 (GRCm39) |
D214E |
possibly damaging |
Het |
| Dnah7b |
G |
T |
1: 46,272,849 (GRCm39) |
G2326C |
probably benign |
Het |
| Dusp5 |
T |
C |
19: 53,529,665 (GRCm39) |
F356S |
probably damaging |
Het |
| Duxf3 |
C |
A |
10: 58,066,915 (GRCm39) |
S528I |
probably damaging |
Het |
| Ell |
T |
A |
8: 70,992,439 (GRCm39) |
V28E |
probably damaging |
Het |
| Evi5 |
C |
T |
5: 107,963,544 (GRCm39) |
D344N |
probably benign |
Het |
| Gemin5 |
A |
G |
11: 58,032,412 (GRCm39) |
|
probably null |
Het |
| Glce |
A |
T |
9: 61,967,587 (GRCm39) |
Y521* |
probably null |
Het |
| Grn |
T |
A |
11: 102,327,070 (GRCm39) |
L556Q |
possibly damaging |
Het |
| Icam1 |
C |
A |
9: 20,939,182 (GRCm39) |
Y518* |
probably null |
Het |
| Jag2 |
A |
T |
12: 112,872,542 (GRCm39) |
S1237R |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,421,251 (GRCm39) |
M1K |
probably null |
Het |
| Nbea |
T |
C |
3: 55,926,845 (GRCm39) |
E786G |
probably damaging |
Het |
| Nr4a2 |
A |
G |
2: 57,001,877 (GRCm39) |
M192T |
probably damaging |
Het |
| Or2v2 |
T |
C |
11: 49,003,879 (GRCm39) |
T225A |
probably benign |
Het |
| Or4a73 |
T |
A |
2: 89,421,432 (GRCm39) |
E9V |
possibly damaging |
Het |
| Or52s1b |
T |
A |
7: 102,822,766 (GRCm39) |
H26L |
probably damaging |
Het |
| Or7e169 |
A |
T |
9: 19,757,912 (GRCm39) |
M1K |
probably null |
Het |
| Pcnx4 |
A |
C |
12: 72,626,138 (GRCm39) |
N1115H |
probably damaging |
Het |
| Ppargc1b |
A |
G |
18: 61,442,134 (GRCm39) |
S585P |
possibly damaging |
Het |
| Ppip5k2 |
C |
T |
1: 97,648,853 (GRCm39) |
S1024N |
probably damaging |
Het |
| Prkar1b |
C |
T |
5: 139,092,383 (GRCm39) |
E145K |
probably damaging |
Het |
| Psd3 |
T |
A |
8: 68,361,513 (GRCm39) |
T539S |
probably benign |
Het |
| Rit2 |
A |
G |
18: 31,449,905 (GRCm39) |
V31A |
probably damaging |
Het |
| Rps6kc1 |
G |
A |
1: 190,531,663 (GRCm39) |
P780S |
probably benign |
Het |
| Serpina6 |
G |
T |
12: 103,614,838 (GRCm39) |
T336K |
possibly damaging |
Het |
| Smo |
A |
T |
6: 29,754,466 (GRCm39) |
Q232L |
probably benign |
Het |
| Stx2 |
T |
C |
5: 129,068,155 (GRCm39) |
D184G |
probably damaging |
Het |
| Tmprss11d |
T |
C |
5: 86,486,746 (GRCm39) |
Y48C |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCTGACCTTACAAGTCAGAAAC -3'
(R):5'- TACAGAAGTCAAGCCAGCTGC -3'
Sequencing Primer
(F):5'- GAGTTTAATGTCATAGCCCGCACTG -3'
(R):5'- CAGCTGCTGTTGGCTTTAAAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation