Incidental Mutation 'IGL02471:Rab11fip5'
ID |
294730 |
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 # |
IGL02471
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
85311944-85351616 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 85325207 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 367
(S367P)
|
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: S367P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000058305 Gene: ENSMUSG00000051343 AA Change: S367P
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 |
probably benign
Transcript: ENSMUST00000204087
AA Change: S367P
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000145402 Gene: ENSMUSG00000051343 AA Change: S367P
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
G |
T |
1: 71,297,357 (GRCm39) |
H2378N |
probably benign |
Het |
Btaf1 |
C |
A |
19: 36,977,592 (GRCm39) |
A1470E |
probably damaging |
Het |
Ccdc110 |
A |
G |
8: 46,394,793 (GRCm39) |
D228G |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cldn18 |
T |
C |
9: 99,578,128 (GRCm39) |
D205G |
probably benign |
Het |
Clip2 |
T |
C |
5: 134,546,876 (GRCm39) |
T231A |
probably benign |
Het |
Cltc |
A |
G |
11: 86,608,860 (GRCm39) |
V723A |
probably damaging |
Het |
Cpa3 |
C |
T |
3: 20,282,971 (GRCm39) |
|
probably null |
Het |
Cyfip2 |
T |
G |
11: 46,091,630 (GRCm39) |
T1097P |
possibly damaging |
Het |
Dnah9 |
T |
A |
11: 65,838,444 (GRCm39) |
R667* |
probably null |
Het |
Dock10 |
T |
C |
1: 80,493,339 (GRCm39) |
E1878G |
probably damaging |
Het |
Ermap |
G |
A |
4: 119,037,160 (GRCm39) |
H353Y |
probably damaging |
Het |
Etfa |
A |
T |
9: 55,393,984 (GRCm39) |
|
probably null |
Het |
F5 |
C |
T |
1: 164,001,860 (GRCm39) |
P188S |
probably damaging |
Het |
Foxq1 |
G |
A |
13: 31,743,326 (GRCm39) |
E143K |
possibly damaging |
Het |
Gsr |
C |
T |
8: 34,172,612 (GRCm39) |
|
probably benign |
Het |
Hebp1 |
T |
A |
6: 135,132,274 (GRCm39) |
Y31F |
probably benign |
Het |
Ighv1-14 |
T |
C |
12: 114,610,457 (GRCm39) |
|
noncoding transcript |
Het |
Lamb1 |
T |
A |
12: 31,370,907 (GRCm39) |
D1319E |
probably damaging |
Het |
Lrp5 |
A |
T |
19: 3,652,408 (GRCm39) |
V1154E |
probably benign |
Het |
Manba |
G |
A |
3: 135,212,769 (GRCm39) |
|
probably benign |
Het |
Mknk2 |
A |
T |
10: 80,503,955 (GRCm39) |
F319I |
probably damaging |
Het |
Mup6 |
A |
T |
4: 60,003,971 (GRCm39) |
|
probably benign |
Het |
Nalcn |
T |
C |
14: 123,560,726 (GRCm39) |
T784A |
probably benign |
Het |
Nt5dc1 |
T |
C |
10: 34,279,721 (GRCm39) |
E107G |
probably benign |
Het |
Or11h6 |
A |
T |
14: 50,880,214 (GRCm39) |
I159F |
probably benign |
Het |
Or56b34 |
T |
A |
7: 104,938,252 (GRCm39) |
F317L |
probably benign |
Het |
Or9q2 |
G |
A |
19: 13,772,589 (GRCm39) |
P129S |
probably damaging |
Het |
Phldb1 |
T |
C |
9: 44,622,530 (GRCm39) |
E41G |
probably damaging |
Het |
Ptk2 |
T |
C |
15: 73,170,036 (GRCm39) |
D309G |
probably benign |
Het |
Rb1cc1 |
T |
A |
1: 6,310,275 (GRCm39) |
N224K |
probably benign |
Het |
Rchy1 |
A |
T |
5: 92,105,405 (GRCm39) |
C65* |
probably null |
Het |
Rgs18 |
T |
C |
1: 144,650,359 (GRCm39) |
D56G |
probably benign |
Het |
Rtraf |
A |
C |
14: 19,862,296 (GRCm39) |
L197R |
probably damaging |
Het |
Slc44a5 |
G |
T |
3: 153,962,213 (GRCm39) |
W382L |
probably damaging |
Het |
Snx24 |
C |
T |
18: 53,518,241 (GRCm39) |
|
probably benign |
Het |
Sphkap |
T |
C |
1: 83,253,897 (GRCm39) |
D1284G |
probably damaging |
Het |
Tmem54 |
A |
G |
4: 129,002,111 (GRCm39) |
M53V |
probably benign |
Het |
Trip6 |
G |
A |
5: 137,308,618 (GRCm39) |
P414S |
probably benign |
Het |
Vmn1r38 |
A |
G |
6: 66,753,751 (GRCm39) |
Y122H |
probably benign |
Het |
Wapl |
T |
A |
14: 34,413,877 (GRCm39) |
N246K |
possibly damaging |
Het |
Zfp12 |
G |
A |
5: 143,230,551 (GRCm39) |
G293R |
probably damaging |
Het |
Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
Zfp446 |
T |
G |
7: 12,716,181 (GRCm39) |
V209G |
probably benign |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
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 |
IGL02725:Rab11fip5
|
APN |
6 |
85,351,471 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02737:Rab11fip5
|
APN |
6 |
85,325,540 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |