Incidental Mutation 'R5828:Rffl'
| ID |
500093 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5828 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
82694645-82762065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82709244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 60
(K60E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099507
(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: K60E
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000021036
Gene: ENSMUSG00000020696
AA Change: K60E
| 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 |
possibly damaging
Transcript: ENSMUST00000071152
AA Change: K95E
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000071150
Gene: ENSMUSG00000020696
AA Change: K95E
| 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 |
possibly damaging
Transcript: ENSMUST00000074515
AA Change: K60E
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000074108
Gene: ENSMUSG00000020696
AA Change: K60E
| 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 |
possibly damaging
Transcript: ENSMUST00000093975
AA Change: K74E
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000091510
Gene: ENSMUSG00000020696
AA Change: K74E
| 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: K60E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099507
Gene: ENSMUSG00000020696
AA Change: K60E
| 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 |
possibly damaging
Transcript: ENSMUST00000108173
AA Change: K60E
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103808
Gene: ENSMUSG00000020696
AA Change: K60E
| 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: K95E
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115846
Gene: ENSMUSG00000020696
AA Change: K95E
| 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 |
0.2196 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (63/63) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
G |
2: 68,432,144 (GRCm39) |
D95G |
unknown |
Het |
| Arl10 |
T |
A |
13: 54,726,768 (GRCm39) |
V182E |
probably damaging |
Het |
| Cacna1g |
T |
G |
11: 94,347,980 (GRCm39) |
S703R |
probably damaging |
Het |
| Ces2a |
C |
A |
8: 105,465,956 (GRCm39) |
T363N |
probably benign |
Het |
| Col14a1 |
G |
A |
15: 55,300,372 (GRCm39) |
V967I |
unknown |
Het |
| Col22a1 |
A |
T |
15: 71,881,340 (GRCm39) |
F4I |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,173,302 (GRCm39) |
W289R |
possibly damaging |
Het |
| Disc1 |
A |
G |
8: 125,977,763 (GRCm39) |
Q793R |
probably damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,369,388 (GRCm39) |
T4337I |
probably benign |
Het |
| Eif2b5 |
T |
A |
16: 20,321,536 (GRCm39) |
V363D |
possibly damaging |
Het |
| Emsy |
T |
C |
7: 98,242,699 (GRCm39) |
T1147A |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,064,066 (GRCm39) |
Y2048N |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Foxred1 |
A |
G |
9: 35,121,492 (GRCm39) |
|
probably benign |
Het |
| Gpaa1 |
T |
C |
15: 76,216,471 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
A |
C |
9: 4,432,832 (GRCm39) |
L784V |
probably damaging |
Het |
| Homer3 |
A |
G |
8: 70,738,956 (GRCm39) |
Y105C |
probably benign |
Het |
| Hpgd |
T |
C |
8: 56,772,106 (GRCm39) |
S193P |
probably benign |
Het |
| Irf1 |
T |
A |
11: 53,666,762 (GRCm39) |
W247R |
probably benign |
Het |
| Lpgat1 |
A |
G |
1: 191,508,494 (GRCm39) |
Q344R |
possibly damaging |
Het |
| Luzp1 |
T |
C |
4: 136,267,993 (GRCm39) |
V72A |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 15,531,464 (GRCm39) |
V8M |
probably benign |
Het |
| Msmo1 |
T |
C |
8: 65,172,144 (GRCm39) |
H253R |
probably damaging |
Het |
| Nom1 |
A |
G |
5: 29,640,124 (GRCm39) |
K150R |
possibly damaging |
Het |
| Onecut1 |
A |
G |
9: 74,770,042 (GRCm39) |
E155G |
probably benign |
Het |
| Or12k7 |
A |
G |
2: 36,959,001 (GRCm39) |
H228R |
probably benign |
Het |
| Or14c46 |
T |
A |
7: 85,918,728 (GRCm39) |
M90L |
probably benign |
Het |
| Or5p59 |
T |
C |
7: 107,703,005 (GRCm39) |
V163A |
possibly damaging |
Het |
| Osbpl10 |
G |
A |
9: 114,890,944 (GRCm39) |
V111M |
probably damaging |
Het |
| Pcdhgb6 |
T |
C |
18: 37,877,457 (GRCm39) |
S722P |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,414,064 (GRCm39) |
D187V |
probably damaging |
Het |
| Pmf1 |
T |
C |
3: 88,303,294 (GRCm39) |
E89G |
possibly damaging |
Het |
| Polr1d |
A |
T |
5: 147,014,408 (GRCm39) |
|
probably benign |
Het |
| Ppp1r9a |
T |
C |
6: 5,158,200 (GRCm39) |
Y1006H |
probably damaging |
Het |
| Ppp2r5c |
A |
G |
12: 110,537,134 (GRCm39) |
K420E |
probably benign |
Het |
| Prdx1 |
T |
C |
4: 116,551,006 (GRCm39) |
L159P |
probably damaging |
Het |
| Psmd6 |
G |
T |
14: 14,119,990 (GRCm38) |
D39E |
probably benign |
Het |
| Rspo2 |
A |
T |
15: 42,939,283 (GRCm39) |
L169Q |
probably damaging |
Het |
| Sbf1 |
T |
A |
15: 89,172,837 (GRCm39) |
D1892V |
probably damaging |
Het |
| Sbno2 |
G |
A |
10: 79,902,424 (GRCm39) |
S475F |
possibly damaging |
Het |
| Serpina3i |
T |
A |
12: 104,231,474 (GRCm39) |
V37E |
probably benign |
Het |
| Siglecf |
G |
A |
7: 43,001,137 (GRCm39) |
C35Y |
probably damaging |
Het |
| Slc22a27 |
G |
T |
19: 7,903,767 (GRCm39) |
D123E |
probably damaging |
Het |
| Smim23 |
T |
A |
11: 32,770,592 (GRCm39) |
K105* |
probably null |
Het |
| Soat1 |
C |
T |
1: 156,265,318 (GRCm39) |
S348N |
probably benign |
Het |
| Sp2 |
C |
T |
11: 96,851,811 (GRCm39) |
|
probably benign |
Het |
| St14 |
T |
A |
9: 31,002,803 (GRCm39) |
H700L |
probably damaging |
Het |
| St3gal1 |
T |
A |
15: 66,985,634 (GRCm39) |
K7* |
probably null |
Het |
| Tgm1 |
T |
C |
14: 55,943,011 (GRCm39) |
K610E |
probably benign |
Het |
| Tob1 |
T |
A |
11: 94,104,583 (GRCm39) |
Y40N |
probably damaging |
Het |
| Tob1 |
T |
A |
11: 94,104,585 (GRCm39) |
Y40* |
probably null |
Het |
| Trpc4ap |
A |
G |
2: 155,477,130 (GRCm39) |
|
probably benign |
Het |
| Ttc9 |
C |
T |
12: 81,678,450 (GRCm39) |
P91L |
probably benign |
Het |
| Zbtb18 |
T |
C |
1: 177,275,446 (GRCm39) |
S269P |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfyve16 |
A |
T |
13: 92,650,410 (GRCm39) |
V858E |
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 |
|
|
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 |
|
|
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'- TCATAGATGGGGTTCAGCCG -3'
(R):5'- AGATTTTATCATGTGGGCATCCTG -3'
Sequencing Primer
(F):5'- CGTACAGTTTGCGAGCAGTGAC -3'
(R):5'- TGGGCATCCTGCTGCAAC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation