Incidental Mutation 'IGL02737:Rab11fip5'
| ID |
305720 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rab11fip5
|
| Ensembl Gene |
ENSMUSG00000051343 |
| Gene Name |
RAB11 family interacting protein 5 (class I) |
| Synonyms |
D6Ertd32e, RIP11, 9130206P09Rik, GAF1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02737
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
85311944-85351616 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 85325540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Tryptophan
at position 289
(G289W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060837]
[ENSMUST00000204087]
|
| AlphaFold |
Q8R361 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060837
AA Change: G289W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058305
Gene: ENSMUSG00000051343
AA Change: G289W
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
20 |
143 |
8.7e-7 |
SMART |
|
low complexity region
|
248 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
391 |
N/A |
INTRINSIC |
|
Pfam:RBD-FIP
|
593 |
640 |
5.1e-23 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204087
AA Change: G289W
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000145402
Gene: ENSMUSG00000051343
AA Change: G289W
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
20 |
143 |
5.8e-9 |
SMART |
|
low complexity region
|
248 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
529 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
560 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
603 |
627 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
692 |
N/A |
INTRINSIC |
|
low complexity region
|
713 |
732 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
887 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
901 |
N/A |
INTRINSIC |
|
low complexity region
|
1037 |
1052 |
N/A |
INTRINSIC |
|
low complexity region
|
1068 |
1106 |
N/A |
INTRINSIC |
|
low complexity region
|
1115 |
1149 |
N/A |
INTRINSIC |
|
Pfam:RBD-FIP
|
1266 |
1313 |
8.5e-20 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a floxed allele are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
A |
2: 68,566,904 (GRCm39) |
H434Q |
possibly damaging |
Het |
| 5430401F13Rik |
A |
T |
6: 131,529,555 (GRCm39) |
I50L |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,981,957 (GRCm39) |
M1080I |
probably benign |
Het |
| Aoc1 |
A |
G |
6: 48,884,577 (GRCm39) |
K540R |
probably benign |
Het |
| Aplp2 |
T |
C |
9: 31,064,712 (GRCm39) |
M585V |
probably benign |
Het |
| C3 |
A |
G |
17: 57,511,281 (GRCm39) |
L1607P |
probably benign |
Het |
| C6 |
A |
G |
15: 4,826,396 (GRCm39) |
K660E |
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,549,419 (GRCm39) |
T1329A |
probably benign |
Het |
| Ccdc141 |
T |
A |
2: 76,888,268 (GRCm39) |
N499I |
probably damaging |
Het |
| Cdh5 |
A |
G |
8: 104,869,560 (GRCm39) |
D762G |
probably damaging |
Het |
| Cep152 |
T |
C |
2: 125,428,394 (GRCm39) |
R746G |
possibly damaging |
Het |
| Cps1 |
A |
T |
1: 67,187,933 (GRCm39) |
Q198L |
probably benign |
Het |
| Cstpp1 |
T |
A |
2: 91,135,142 (GRCm39) |
Q9L |
probably damaging |
Het |
| Eri3 |
T |
C |
4: 117,422,057 (GRCm39) |
F112L |
probably damaging |
Het |
| Fam180a |
C |
A |
6: 35,290,488 (GRCm39) |
R165L |
probably benign |
Het |
| Fkbp10 |
A |
C |
11: 100,313,481 (GRCm39) |
I252L |
probably benign |
Het |
| Gtf2f1 |
G |
T |
17: 57,310,918 (GRCm39) |
Q410K |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,439,579 (GRCm39) |
Y5535C |
probably damaging |
Het |
| Ifrd2 |
T |
A |
9: 107,469,369 (GRCm39) |
D372E |
probably benign |
Het |
| Il3ra |
A |
G |
14: 14,350,760 (GRCm38) |
N165S |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,957,183 (GRCm39) |
N2164S |
probably benign |
Het |
| Krtap19-9a |
A |
G |
16: 88,721,099 (GRCm39) |
|
noncoding transcript |
Het |
| Nopchap1 |
T |
A |
10: 83,200,309 (GRCm39) |
M90K |
probably damaging |
Het |
| Or12d13 |
T |
A |
17: 37,647,664 (GRCm39) |
H153L |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,764,177 (GRCm39) |
S4217P |
unknown |
Het |
| Ppfibp1 |
G |
A |
6: 146,928,806 (GRCm39) |
V798I |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,170,775 (GRCm39) |
R165* |
probably null |
Het |
| Ptges |
T |
C |
2: 30,782,698 (GRCm39) |
Y118C |
probably damaging |
Het |
| Rfc1 |
T |
C |
5: 65,468,506 (GRCm39) |
D69G |
possibly damaging |
Het |
| Scube1 |
A |
G |
15: 83,606,044 (GRCm39) |
|
probably benign |
Het |
| Slc5a6 |
G |
A |
5: 31,194,511 (GRCm39) |
P565L |
probably benign |
Het |
| Sncaip |
C |
A |
18: 53,040,128 (GRCm39) |
T774K |
probably benign |
Het |
| Spata31f1a |
C |
A |
4: 42,849,431 (GRCm39) |
L908F |
possibly damaging |
Het |
| Specc1l |
G |
A |
10: 75,082,158 (GRCm39) |
S535N |
probably damaging |
Het |
| Tbk1 |
C |
T |
10: 121,395,767 (GRCm39) |
G442E |
probably null |
Het |
| Thoc7 |
A |
T |
14: 13,953,443 (GRCm38) |
M78K |
possibly damaging |
Het |
| Usp15 |
A |
G |
10: 122,966,937 (GRCm39) |
F461S |
probably damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,463,911 (GRCm39) |
I308L |
possibly damaging |
Het |
| Zhx2 |
C |
A |
15: 57,685,663 (GRCm39) |
T344N |
probably damaging |
Het |
|
| Other mutations in Rab11fip5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02282:Rab11fip5
|
APN |
6 |
85,314,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02471:Rab11fip5
|
APN |
6 |
85,325,207 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02725:Rab11fip5
|
APN |
6 |
85,351,471 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4812001:Rab11fip5
|
UTSW |
6 |
85,318,540 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0627:Rab11fip5
|
UTSW |
6 |
85,325,033 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1652:Rab11fip5
|
UTSW |
6 |
85,325,279 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1961:Rab11fip5
|
UTSW |
6 |
85,325,973 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2106:Rab11fip5
|
UTSW |
6 |
85,351,369 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2142:Rab11fip5
|
UTSW |
6 |
85,314,210 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4729:Rab11fip5
|
UTSW |
6 |
85,351,249 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5001:Rab11fip5
|
UTSW |
6 |
85,324,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5116:Rab11fip5
|
UTSW |
6 |
85,325,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5506:Rab11fip5
|
UTSW |
6 |
85,351,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5801:Rab11fip5
|
UTSW |
6 |
85,314,582 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6338:Rab11fip5
|
UTSW |
6 |
85,318,360 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6696:Rab11fip5
|
UTSW |
6 |
85,318,928 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6763:Rab11fip5
|
UTSW |
6 |
85,319,152 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6880:Rab11fip5
|
UTSW |
6 |
85,325,827 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6932:Rab11fip5
|
UTSW |
6 |
85,318,540 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7042:Rab11fip5
|
UTSW |
6 |
85,351,110 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7112:Rab11fip5
|
UTSW |
6 |
85,325,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7197:Rab11fip5
|
UTSW |
6 |
85,319,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7384:Rab11fip5
|
UTSW |
6 |
85,325,312 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7395:Rab11fip5
|
UTSW |
6 |
85,318,850 (GRCm39) |
missense |
probably benign |
|
|
R7451:Rab11fip5
|
UTSW |
6 |
85,318,538 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7482:Rab11fip5
|
UTSW |
6 |
85,317,760 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8435:Rab11fip5
|
UTSW |
6 |
85,314,522 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8674:Rab11fip5
|
UTSW |
6 |
85,318,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9040:Rab11fip5
|
UTSW |
6 |
85,324,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9101:Rab11fip5
|
UTSW |
6 |
85,317,675 (GRCm39) |
missense |
probably benign |
|
|
R9129:Rab11fip5
|
UTSW |
6 |
85,317,892 (GRCm39) |
missense |
probably benign |
|
|
R9281:Rab11fip5
|
UTSW |
6 |
85,318,834 (GRCm39) |
missense |
probably benign |
|
|
R9294:Rab11fip5
|
UTSW |
6 |
85,325,692 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9487:Rab11fip5
|
UTSW |
6 |
85,324,913 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1177:Rab11fip5
|
UTSW |
6 |
85,317,452 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation