Incidental Mutation 'R6951:Rffl'
| ID |
541279 |
| 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 |
045063-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6951 (G1)
|
| Quality Score |
190.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
82694645-82762065 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 82736576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071152]
[ENSMUST00000093975]
[ENSMUST00000108173]
[ENSMUST00000126660]
|
| AlphaFold |
Q6ZQM0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000071152
|
| SMART Domains |
Protein: ENSMUSP00000071150
Gene: ENSMUSG00000020696
| 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 benign
Transcript: ENSMUST00000093975
|
| SMART Domains |
Protein: ENSMUSP00000091510
Gene: ENSMUSG00000020696
| 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 benign
Transcript: ENSMUST00000108173
|
| SMART Domains |
Protein: ENSMUSP00000103808
Gene: ENSMUSG00000020696
| 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 null
Transcript: ENSMUST00000126660
|
| SMART Domains |
Protein: ENSMUSP00000115846
Gene: ENSMUSG00000020696
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.0%
|
| Validation Efficiency |
100% (42/42) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd34a |
A |
G |
3: 96,505,738 (GRCm39) |
N314S |
possibly damaging |
Het |
| Arhgef3 |
A |
T |
14: 26,865,975 (GRCm39) |
|
probably benign |
Het |
| Bmp1 |
T |
C |
14: 70,746,298 (GRCm39) |
R114G |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,385,989 (GRCm39) |
L2097P |
probably damaging |
Het |
| Cgas |
A |
G |
9: 78,349,840 (GRCm39) |
V174A |
probably damaging |
Het |
| Dapk2 |
C |
G |
9: 66,161,904 (GRCm39) |
R271G |
probably benign |
Het |
| Dnase2a |
A |
T |
8: 85,636,254 (GRCm39) |
N130I |
possibly damaging |
Het |
| Dpp10 |
C |
T |
1: 123,269,379 (GRCm39) |
V677M |
possibly damaging |
Het |
| Dsp |
G |
A |
13: 38,351,622 (GRCm39) |
C147Y |
possibly damaging |
Het |
| Ecpas |
A |
G |
4: 58,853,114 (GRCm39) |
|
probably null |
Het |
| Esyt2 |
A |
G |
12: 116,287,750 (GRCm39) |
T223A |
probably benign |
Het |
| Fndc5 |
G |
A |
4: 129,032,573 (GRCm39) |
V59I |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,812,293 (GRCm39) |
T2871A |
possibly damaging |
Het |
| H2-Eb1 |
A |
T |
17: 34,528,831 (GRCm39) |
R121* |
probably null |
Het |
| Hydin |
A |
G |
8: 111,124,757 (GRCm39) |
I589V |
probably benign |
Het |
| Kitl |
A |
G |
10: 99,887,714 (GRCm39) |
I48V |
probably damaging |
Het |
| Large1 |
A |
G |
8: 73,843,047 (GRCm39) |
S159P |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,653,180 (GRCm39) |
L2570P |
probably benign |
Het |
| Mag |
G |
A |
7: 30,610,858 (GRCm39) |
T128I |
possibly damaging |
Het |
| Mkrn3 |
G |
T |
7: 62,068,881 (GRCm39) |
D303E |
possibly damaging |
Het |
| Myo9a |
A |
G |
9: 59,802,051 (GRCm39) |
D1951G |
probably damaging |
Het |
| Nup85 |
C |
T |
11: 115,473,781 (GRCm39) |
T565I |
possibly damaging |
Het |
| Or5l13 |
T |
C |
2: 87,780,323 (GRCm39) |
I85V |
possibly damaging |
Het |
| Or8b1d |
A |
G |
9: 38,558,170 (GRCm39) |
S217P |
probably damaging |
Het |
| Or8b43 |
A |
G |
9: 38,360,234 (GRCm39) |
D22G |
probably benign |
Het |
| Or8k31-ps1 |
T |
C |
2: 86,355,993 (GRCm39) |
H176R |
probably damaging |
Het |
| Pdzrn3 |
A |
T |
6: 101,131,153 (GRCm39) |
|
probably null |
Het |
| Picalm |
T |
A |
7: 89,840,583 (GRCm39) |
N434K |
probably damaging |
Het |
| Platr25 |
A |
C |
13: 62,853,562 (GRCm39) |
D77E |
probably benign |
Het |
| Prr22 |
A |
T |
17: 57,079,028 (GRCm39) |
R394* |
probably null |
Het |
| Psg23 |
A |
T |
7: 18,348,636 (GRCm39) |
L57Q |
probably damaging |
Het |
| Rap1gap2 |
G |
A |
11: 74,375,774 (GRCm39) |
S44L |
possibly damaging |
Het |
| Stox2 |
G |
A |
8: 47,656,167 (GRCm39) |
T103I |
probably damaging |
Het |
| Swt1 |
T |
C |
1: 151,273,019 (GRCm39) |
N543S |
possibly damaging |
Het |
| Tep1 |
C |
T |
14: 51,071,370 (GRCm39) |
|
probably null |
Het |
| Tln2 |
A |
G |
9: 67,165,767 (GRCm39) |
Y1023H |
probably damaging |
Het |
| Tssk5 |
C |
A |
15: 76,257,096 (GRCm39) |
R262L |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,710,986 (GRCm39) |
|
probably benign |
Het |
| Ubtfl1 |
A |
T |
9: 18,320,873 (GRCm39) |
I134F |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,687,670 (GRCm39) |
F2351S |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,701,104 (GRCm39) |
D688E |
probably benign |
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 |
|
R6651:Rffl
|
UTSW |
11 |
82,703,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GCTTGAGCGAACTGTTTCTCG -3'
(R):5'- TGAGCTCTGTTGCAACGTTG -3'
Sequencing Primer
(F):5'- GAGCGAACTGTTTCTCGTAAGACAC -3'
(R):5'- GATCTCATCCGAACATGG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation