Incidental Mutation 'IGL01635:Rffl'
| ID |
92963 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01635
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
82694645-82762065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 82703378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 147
(R147C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021036]
[ENSMUST00000071152]
[ENSMUST00000074515]
[ENSMUST00000093975]
[ENSMUST00000103218]
[ENSMUST00000108173]
[ENSMUST00000126660]
|
| AlphaFold |
Q6ZQM0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021036
AA Change: R147C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000021036
Gene: ENSMUSG00000020696
AA Change: R147C
| 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 benign
Transcript: ENSMUST00000071152
AA Change: R182C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000071150
Gene: ENSMUSG00000020696
AA Change: R182C
| 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: ENSMUST00000074515
AA Change: R147C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000074108
Gene: ENSMUSG00000020696
AA Change: R147C
| 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 benign
Transcript: ENSMUST00000093975
AA Change: R161C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000091510
Gene: ENSMUSG00000020696
AA Change: R161C
| 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: ENSMUST00000103218
AA Change: R147C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000099507
Gene: ENSMUSG00000020696
AA Change: R147C
| 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 benign
Transcript: ENSMUST00000108173
AA Change: R147C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103808
Gene: ENSMUSG00000020696
AA Change: R147C
| 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 benign
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 |
|
| Coding Region Coverage |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
A |
G |
16: 8,431,910 (GRCm39) |
I396V |
probably benign |
Het |
| Bag2 |
T |
A |
1: 33,786,013 (GRCm39) |
N103I |
possibly damaging |
Het |
| Cfap95 |
T |
C |
19: 23,536,379 (GRCm39) |
Y176C |
probably damaging |
Het |
| Chd1 |
T |
C |
17: 17,598,858 (GRCm39) |
S107P |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,252,076 (GRCm39) |
|
probably benign |
Het |
| Cytip |
T |
C |
2: 58,038,243 (GRCm39) |
E106G |
probably damaging |
Het |
| Dcp1b |
T |
A |
6: 119,183,498 (GRCm39) |
I195N |
probably damaging |
Het |
| Ddhd1 |
C |
A |
14: 45,867,037 (GRCm39) |
V322F |
probably null |
Het |
| Esrrg |
A |
T |
1: 187,930,797 (GRCm39) |
D296V |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,035,427 (GRCm39) |
K1867R |
probably benign |
Het |
| Gm10717 |
C |
A |
9: 3,025,511 (GRCm39) |
A32D |
probably damaging |
Het |
| Gm10717 |
C |
A |
9: 3,025,506 (GRCm39) |
F30L |
possibly damaging |
Het |
| Gstt1 |
G |
T |
10: 75,629,951 (GRCm39) |
T54K |
probably damaging |
Het |
| Ighmbp2 |
C |
T |
19: 3,317,265 (GRCm39) |
V536I |
possibly damaging |
Het |
| Mphosph8 |
A |
T |
14: 56,910,003 (GRCm39) |
R119W |
probably damaging |
Het |
| Negr1 |
A |
G |
3: 156,267,929 (GRCm39) |
D33G |
probably benign |
Het |
| Or2l13b |
A |
G |
16: 19,348,845 (GRCm39) |
V275A |
probably benign |
Het |
| Or7d10 |
A |
T |
9: 19,831,780 (GRCm39) |
I92L |
probably damaging |
Het |
| Plbd2 |
T |
C |
5: 120,637,114 (GRCm39) |
D116G |
probably damaging |
Het |
| Pold1 |
A |
T |
7: 44,185,401 (GRCm39) |
V733E |
probably damaging |
Het |
| Prorsd1 |
T |
A |
11: 29,463,467 (GRCm39) |
K98N |
probably benign |
Het |
| Rasal2 |
G |
T |
1: 156,991,394 (GRCm39) |
L611I |
probably damaging |
Het |
| Rpl27rt |
A |
T |
18: 34,870,795 (GRCm39) |
M110L |
probably benign |
Het |
| Sdad1 |
A |
G |
5: 92,445,019 (GRCm39) |
M315T |
probably damaging |
Het |
| Shprh |
T |
A |
10: 11,045,763 (GRCm39) |
Y861* |
probably null |
Het |
| Six4 |
G |
A |
12: 73,155,971 (GRCm39) |
A324V |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,816,992 (GRCm39) |
D135G |
probably benign |
Het |
| Tada3 |
T |
C |
6: 113,352,973 (GRCm39) |
H12R |
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,810,238 (GRCm39) |
D116G |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation