Incidental Mutation 'R6651:Rffl'
ID |
527800 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rffl
|
Ensembl Gene |
ENSMUSG00000020696 |
Gene Name |
ring finger and FYVE like domain containing protein |
Synonyms |
fring, 4930516L10Rik, Carp2, rififylin, 1700051E09Rik, Carp-2 |
MMRRC Submission |
044772-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6651 (G1)
|
Quality Score |
195.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
82694645-82762065 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 82703605 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 106
(C106F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115846
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021036]
[ENSMUST00000071152]
[ENSMUST00000074515]
[ENSMUST00000093975]
[ENSMUST00000103218]
[ENSMUST00000108173]
[ENSMUST00000126660]
|
AlphaFold |
Q6ZQM0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021036
AA Change: C71F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021036 Gene: ENSMUSG00000020696 AA Change: C71F
Domain | Start | End | E-Value | Type |
PDB:1Y02|A
|
27 |
145 |
3e-75 |
PDB |
Blast:RING
|
47 |
88 |
2e-19 |
BLAST |
low complexity region
|
163 |
175 |
N/A |
INTRINSIC |
RING
|
288 |
322 |
3.47e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071152
AA Change: C106F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000071150 Gene: ENSMUSG00000020696 AA Change: C106F
Domain | Start | End | E-Value | Type |
PDB:1Y02|A
|
62 |
180 |
1e-74 |
PDB |
Blast:RING
|
82 |
123 |
2e-19 |
BLAST |
low complexity region
|
198 |
210 |
N/A |
INTRINSIC |
RING
|
351 |
385 |
3.47e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074515
AA Change: C71F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000074108 Gene: ENSMUSG00000020696 AA Change: C71F
Domain | Start | End | E-Value | Type |
PDB:1Y02|A
|
27 |
145 |
4e-75 |
PDB |
Blast:RING
|
47 |
88 |
2e-19 |
BLAST |
low complexity region
|
163 |
175 |
N/A |
INTRINSIC |
RING
|
316 |
350 |
3.47e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093975
AA Change: C85F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000091510 Gene: ENSMUSG00000020696 AA Change: C85F
Domain | Start | End | E-Value | Type |
PDB:1Y02|A
|
41 |
159 |
6e-75 |
PDB |
Blast:RING
|
61 |
102 |
2e-19 |
BLAST |
low complexity region
|
177 |
189 |
N/A |
INTRINSIC |
RING
|
330 |
364 |
3.47e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103218
AA Change: C71F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099507 Gene: ENSMUSG00000020696 AA Change: C71F
Domain | Start | End | E-Value | Type |
PDB:1Y02|A
|
27 |
145 |
1e-76 |
PDB |
SCOP:d1vfya_
|
46 |
86 |
9e-5 |
SMART |
Blast:RING
|
47 |
88 |
4e-20 |
BLAST |
low complexity region
|
163 |
175 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108173
AA Change: C71F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103808 Gene: ENSMUSG00000020696 AA Change: C71F
Domain | Start | End | E-Value | Type |
PDB:1Y02|A
|
27 |
145 |
4e-75 |
PDB |
Blast:RING
|
47 |
88 |
2e-19 |
BLAST |
low complexity region
|
163 |
175 |
N/A |
INTRINSIC |
RING
|
316 |
350 |
3.47e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126660
AA Change: C106F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115846 Gene: ENSMUSG00000020696 AA Change: C106F
Domain | Start | End | E-Value | Type |
PDB:1Y02|A
|
62 |
142 |
9e-50 |
PDB |
SCOP:d1vfya_
|
81 |
121 |
1e-3 |
SMART |
Blast:RING
|
82 |
123 |
7e-21 |
BLAST |
|
Meta Mutation Damage Score |
0.9735 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
Validation Efficiency |
98% (50/51) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for an inactivating targeted mutation of this gene are born at the expected Mendelian frequency; they are viable and fertile and exhibit no apparent abnormal phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406B18Rik |
A |
C |
7: 43,147,496 (GRCm39) |
S198A |
possibly damaging |
Het |
Adamts15 |
A |
T |
9: 30,833,448 (GRCm39) |
I29N |
probably damaging |
Het |
Ankrd61 |
A |
T |
5: 143,830,438 (GRCm39) |
I33N |
probably damaging |
Het |
Arl6ip1 |
C |
T |
7: 117,728,708 (GRCm39) |
R7H |
probably benign |
Het |
Atp8a2 |
A |
T |
14: 60,011,470 (GRCm39) |
D946E |
probably benign |
Het |
Cc2d2b |
A |
T |
19: 40,766,573 (GRCm39) |
Q114L |
probably damaging |
Het |
Ccdc163 |
T |
A |
4: 116,566,261 (GRCm39) |
S16R |
possibly damaging |
Het |
Chil6 |
C |
T |
3: 106,311,576 (GRCm39) |
C68Y |
probably damaging |
Het |
Cngb3 |
G |
T |
4: 19,375,231 (GRCm39) |
R287L |
probably benign |
Het |
Crem |
C |
T |
18: 3,325,428 (GRCm39) |
R16H |
probably benign |
Het |
Cyp4f16 |
C |
T |
17: 32,763,118 (GRCm39) |
R188C |
probably benign |
Het |
Dap |
A |
G |
15: 31,273,353 (GRCm39) |
D46G |
probably damaging |
Het |
Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
Enam |
T |
C |
5: 88,650,776 (GRCm39) |
Y687H |
probably damaging |
Het |
Fzd4 |
A |
T |
7: 89,054,010 (GRCm39) |
D39V |
possibly damaging |
Het |
Ggta1 |
G |
T |
2: 35,292,306 (GRCm39) |
H334N |
probably benign |
Het |
Golga3 |
C |
T |
5: 110,365,996 (GRCm39) |
R1254* |
probably null |
Het |
Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
Helz2 |
C |
T |
2: 180,881,350 (GRCm39) |
W377* |
probably null |
Het |
Hfm1 |
T |
C |
5: 106,995,553 (GRCm39) |
D1286G |
probably benign |
Het |
Hhatl |
T |
C |
9: 121,613,768 (GRCm39) |
R425G |
probably damaging |
Het |
Hivep3 |
G |
A |
4: 119,980,146 (GRCm39) |
R1728H |
probably damaging |
Het |
Hyal1 |
A |
G |
9: 107,456,570 (GRCm39) |
Y419C |
probably damaging |
Het |
Ighv8-12 |
A |
T |
12: 115,611,644 (GRCm39) |
D84E |
possibly damaging |
Het |
Itln1 |
A |
G |
1: 171,345,940 (GRCm39) |
F271L |
possibly damaging |
Het |
Klra7 |
C |
A |
6: 130,206,908 (GRCm39) |
L64F |
probably benign |
Het |
Kmt2a |
A |
T |
9: 44,740,108 (GRCm39) |
C1878* |
probably null |
Het |
Mia2 |
C |
A |
12: 59,201,148 (GRCm39) |
Q825K |
possibly damaging |
Het |
Mmp12 |
C |
A |
9: 7,355,345 (GRCm39) |
P294Q |
possibly damaging |
Het |
Nedd4 |
A |
G |
9: 72,638,553 (GRCm39) |
N480S |
possibly damaging |
Het |
Or4c12b |
A |
T |
2: 89,647,240 (GRCm39) |
E190V |
probably benign |
Het |
Or4e5 |
C |
T |
14: 52,728,250 (GRCm39) |
R57Q |
probably benign |
Het |
Pax6 |
T |
A |
2: 105,516,175 (GRCm39) |
M151K |
probably benign |
Het |
Pgm2 |
A |
G |
5: 64,269,437 (GRCm39) |
Y508C |
probably benign |
Het |
Ptpn20 |
T |
C |
14: 33,354,897 (GRCm39) |
F324S |
probably damaging |
Het |
Recql |
A |
G |
6: 142,310,160 (GRCm39) |
|
probably null |
Het |
Rerg |
A |
G |
6: 137,033,384 (GRCm39) |
V97A |
probably damaging |
Het |
Scaper |
T |
G |
9: 55,765,788 (GRCm39) |
N499T |
probably benign |
Het |
Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
Slc36a4 |
A |
G |
9: 15,634,874 (GRCm39) |
S139G |
probably benign |
Het |
Slco2b1 |
T |
A |
7: 99,316,376 (GRCm39) |
M385L |
probably benign |
Het |
Smg8 |
T |
C |
11: 86,977,372 (GRCm39) |
T70A |
probably benign |
Het |
Spats2l |
A |
T |
1: 57,985,336 (GRCm39) |
K463M |
probably damaging |
Het |
Thbs4 |
T |
C |
13: 92,893,044 (GRCm39) |
I715V |
probably benign |
Het |
Tmem234 |
T |
A |
4: 129,501,264 (GRCm39) |
M113K |
possibly damaging |
Het |
Vmn2r10 |
T |
C |
5: 109,143,488 (GRCm39) |
I821V |
probably null |
Het |
Vmn2r116 |
A |
T |
17: 23,607,805 (GRCm39) |
K458* |
probably null |
Het |
Vmn2r76 |
T |
A |
7: 85,878,059 (GRCm39) |
N446I |
possibly damaging |
Het |
Vmn2r95 |
T |
A |
17: 18,660,622 (GRCm39) |
Y345N |
probably damaging |
Het |
|
Other mutations in Rffl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00672:Rffl
|
APN |
11 |
82,709,310 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01120:Rffl
|
APN |
11 |
82,696,848 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01295:Rffl
|
APN |
11 |
82,709,283 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01635:Rffl
|
APN |
11 |
82,703,378 (GRCm39) |
missense |
probably benign |
0.00 |
R0127:Rffl
|
UTSW |
11 |
82,703,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R0195:Rffl
|
UTSW |
11 |
82,700,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R2125:Rffl
|
UTSW |
11 |
82,709,264 (GRCm39) |
missense |
probably damaging |
0.99 |
R5030:Rffl
|
UTSW |
11 |
82,703,543 (GRCm39) |
nonsense |
probably null |
|
R5104:Rffl
|
UTSW |
11 |
82,703,619 (GRCm39) |
nonsense |
probably null |
|
R5283:Rffl
|
UTSW |
11 |
82,703,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R5483:Rffl
|
UTSW |
11 |
82,703,549 (GRCm39) |
splice site |
probably null |
|
R5828:Rffl
|
UTSW |
11 |
82,709,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R5974:Rffl
|
UTSW |
11 |
82,696,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R6951:Rffl
|
UTSW |
11 |
82,736,576 (GRCm39) |
critical splice donor site |
probably null |
|
R7053:Rffl
|
UTSW |
11 |
82,703,497 (GRCm39) |
missense |
probably null |
1.00 |
R7587:Rffl
|
UTSW |
11 |
82,700,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R7782:Rffl
|
UTSW |
11 |
82,703,595 (GRCm39) |
nonsense |
probably null |
|
R8192:Rffl
|
UTSW |
11 |
82,703,549 (GRCm39) |
splice site |
probably null |
|
R8243:Rffl
|
UTSW |
11 |
82,703,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R8809:Rffl
|
UTSW |
11 |
82,700,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R9044:Rffl
|
UTSW |
11 |
82,701,020 (GRCm39) |
missense |
probably benign |
0.01 |
R9217:Rffl
|
UTSW |
11 |
82,703,633 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9569:Rffl
|
UTSW |
11 |
82,703,264 (GRCm39) |
missense |
probably benign |
0.04 |
RF009:Rffl
|
UTSW |
11 |
82,736,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCGCCTCAGAAATTACAGGC -3'
(R):5'- AAAGCCATAGTGTAGCTCCCAC -3'
Sequencing Primer
(F):5'- CCTCAGAAATTACAGGCTGCTGG -3'
(R):5'- ATAGTGTAGCTCCCACTTTGG -3'
|
Posted On |
2018-07-23 |