Incidental Mutation 'R7053:Rffl'
ID |
547724 |
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 |
045150-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7053 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
82694645-82762065 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 82703497 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 142
(K142R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115846
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021036]
[ENSMUST00000071152]
[ENSMUST00000074515]
[ENSMUST00000093975]
[ENSMUST00000103218]
[ENSMUST00000108173]
[ENSMUST00000126660]
|
AlphaFold |
Q6ZQM0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021036
AA Change: K107R
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000021036 Gene: ENSMUSG00000020696 AA Change: K107R
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: K142R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000071150 Gene: ENSMUSG00000020696 AA Change: K142R
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: K107R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000074108 Gene: ENSMUSG00000020696 AA Change: K107R
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: K121R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000091510 Gene: ENSMUSG00000020696 AA Change: K121R
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: K107R
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000099507 Gene: ENSMUSG00000020696 AA Change: K107R
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: K107R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103808 Gene: ENSMUSG00000020696 AA Change: K107R
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
AA Change: K142R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000115846 Gene: ENSMUSG00000020696 AA Change: K142R
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
A |
T |
8: 44,021,836 (GRCm39) |
C551* |
probably null |
Het |
Aldh1l1 |
C |
A |
6: 90,540,420 (GRCm39) |
T235K |
possibly damaging |
Het |
Atp6v0a2 |
A |
G |
5: 124,783,923 (GRCm39) |
E257G |
probably damaging |
Het |
AW146154 |
A |
G |
7: 41,131,988 (GRCm39) |
|
probably null |
Het |
BC048507 |
T |
C |
13: 68,011,772 (GRCm39) |
Y50H |
probably benign |
Het |
Brip1 |
T |
C |
11: 86,083,791 (GRCm39) |
N77D |
possibly damaging |
Het |
Ccdc13 |
T |
C |
9: 121,662,904 (GRCm39) |
E37G |
probably damaging |
Het |
Ccn6 |
A |
G |
10: 39,034,297 (GRCm39) |
Y102H |
probably damaging |
Het |
Col27a1 |
T |
A |
4: 63,251,404 (GRCm39) |
|
probably benign |
Het |
Corin |
T |
A |
5: 72,458,870 (GRCm39) |
I960L |
probably benign |
Het |
Csnk2b |
A |
G |
17: 35,335,422 (GRCm39) |
|
probably benign |
Het |
Cyp2d26 |
T |
C |
15: 82,676,801 (GRCm39) |
S182G |
probably benign |
Het |
Dennd1a |
A |
G |
2: 37,851,666 (GRCm39) |
L74P |
probably damaging |
Het |
Dip2c |
A |
G |
13: 9,660,740 (GRCm39) |
D838G |
probably damaging |
Het |
Dkkl1 |
G |
T |
7: 44,857,022 (GRCm39) |
Q182K |
probably damaging |
Het |
Dnai2 |
T |
C |
11: 114,629,521 (GRCm39) |
S183P |
probably damaging |
Het |
Dnhd1 |
T |
C |
7: 105,344,161 (GRCm39) |
L1835P |
probably damaging |
Het |
Espl1 |
T |
C |
15: 102,225,328 (GRCm39) |
|
probably null |
Het |
Fam174a |
C |
T |
1: 95,252,953 (GRCm39) |
A185V |
probably damaging |
Het |
Fhip1b |
C |
T |
7: 105,033,779 (GRCm39) |
G479D |
probably damaging |
Het |
Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
Grid2 |
G |
T |
6: 64,677,402 (GRCm39) |
A74S |
unknown |
Het |
Gsdma3 |
T |
A |
11: 98,520,621 (GRCm39) |
M84K |
possibly damaging |
Het |
Hlcs |
A |
T |
16: 94,068,874 (GRCm39) |
S262R |
possibly damaging |
Het |
Lrp1 |
A |
G |
10: 127,376,963 (GRCm39) |
C4205R |
probably damaging |
Het |
Mdc1 |
C |
T |
17: 36,157,218 (GRCm39) |
A181V |
probably benign |
Het |
Mdga2 |
T |
A |
12: 66,736,158 (GRCm39) |
I357F |
probably benign |
Het |
Mfn1 |
A |
G |
3: 32,586,114 (GRCm39) |
I21V |
probably benign |
Het |
Mgat4b |
C |
T |
11: 50,124,367 (GRCm39) |
T409M |
probably damaging |
Het |
Mgat4d |
G |
T |
8: 84,098,261 (GRCm39) |
K341N |
probably damaging |
Het |
Mpo |
A |
T |
11: 87,694,336 (GRCm39) |
N109Y |
probably damaging |
Het |
Mvp |
T |
C |
7: 126,586,776 (GRCm39) |
Q785R |
possibly damaging |
Het |
Nim1k |
A |
G |
13: 120,189,145 (GRCm39) |
V88A |
probably damaging |
Het |
Oasl2 |
A |
T |
5: 115,049,291 (GRCm39) |
I464L |
possibly damaging |
Het |
Or5m11b |
G |
T |
2: 85,806,358 (GRCm39) |
C257F |
possibly damaging |
Het |
Pkd1l2 |
A |
G |
8: 117,740,681 (GRCm39) |
F2139L |
probably damaging |
Het |
Pop1 |
T |
G |
15: 34,530,421 (GRCm39) |
S940A |
probably benign |
Het |
Ppp1r9a |
T |
A |
6: 4,905,670 (GRCm39) |
M75K |
probably damaging |
Het |
Prdm15 |
G |
A |
16: 97,595,742 (GRCm39) |
Q1029* |
probably null |
Het |
Rhou |
A |
G |
8: 124,380,934 (GRCm39) |
|
probably benign |
Het |
Rp1l1 |
A |
T |
14: 64,268,958 (GRCm39) |
T1515S |
possibly damaging |
Het |
Serpina1b |
T |
A |
12: 103,698,688 (GRCm39) |
S54C |
possibly damaging |
Het |
Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
Taok3 |
T |
A |
5: 117,390,627 (GRCm39) |
D529E |
probably benign |
Het |
Tmem18 |
T |
A |
12: 30,634,506 (GRCm39) |
M1K |
probably null |
Het |
Tmem269 |
T |
A |
4: 119,066,464 (GRCm39) |
H198L |
probably damaging |
Het |
Tnrc18 |
A |
G |
5: 142,772,984 (GRCm39) |
V432A |
unknown |
Het |
Ttc6 |
A |
T |
12: 57,707,318 (GRCm39) |
T742S |
probably benign |
Het |
Uhrf2 |
T |
A |
19: 30,069,519 (GRCm39) |
C749S |
probably damaging |
Het |
Unc13c |
G |
A |
9: 73,839,579 (GRCm39) |
T424I |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r61 |
A |
C |
7: 41,916,557 (GRCm39) |
D390A |
probably damaging |
Het |
Xpo7 |
A |
G |
14: 70,922,298 (GRCm39) |
|
probably null |
Het |
Zfp948 |
T |
A |
17: 21,805,121 (GRCm39) |
L37* |
probably null |
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 |
R6951:Rffl
|
UTSW |
11 |
82,736,576 (GRCm39) |
critical splice donor site |
probably null |
|
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'- ACAGAGGTGACTTGTGCAG -3'
(R):5'- CTGTTCCTTCAAGCTGACGC -3'
Sequencing Primer
(F):5'- AGGAGGCACTGTGCTGG -3'
(R):5'- TCAAGCTGACGCGCTCTC -3'
|
Posted On |
2019-05-13 |