Incidental Mutation 'R6763:Rab11fip5'
ID |
531775 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rab11fip5
|
Ensembl Gene |
ENSMUSG00000051343 |
Gene Name |
RAB11 family interacting protein 5 (class I) |
Synonyms |
D6Ertd32e, RIP11, 9130206P09Rik, GAF1 |
MMRRC Submission |
044879-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6763 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
85311944-85351616 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 85319152 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 579
(L579S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145402
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060837]
[ENSMUST00000204087]
|
AlphaFold |
Q8R361 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060837
|
SMART Domains |
Protein: ENSMUSP00000058305 Gene: ENSMUSG00000051343
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: L579S
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000145402 Gene: ENSMUSG00000051343 AA Change: L579S
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.2%
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aaas |
C |
A |
15: 102,248,457 (GRCm39) |
R286L |
probably null |
Het |
Actrt2 |
A |
G |
4: 154,751,836 (GRCm39) |
V100A |
probably damaging |
Het |
Adra1b |
A |
G |
11: 43,666,833 (GRCm39) |
L468P |
possibly damaging |
Het |
Ankhd1 |
A |
G |
18: 36,776,022 (GRCm39) |
E1457G |
probably benign |
Het |
Aspm |
A |
T |
1: 139,398,255 (GRCm39) |
M974L |
possibly damaging |
Het |
Atp8a2 |
T |
A |
14: 60,245,857 (GRCm39) |
I612F |
probably benign |
Het |
Cabin1 |
A |
G |
10: 75,582,564 (GRCm39) |
L284P |
probably damaging |
Het |
Cand2 |
T |
A |
6: 115,776,930 (GRCm39) |
M1106K |
probably benign |
Het |
Ccbe1 |
A |
T |
18: 66,194,459 (GRCm39) |
F376I |
possibly damaging |
Het |
Ceacam14 |
A |
G |
7: 17,549,268 (GRCm39) |
T220A |
probably benign |
Het |
Celsr3 |
A |
G |
9: 108,704,549 (GRCm39) |
D344G |
probably damaging |
Het |
Chaf1b |
A |
G |
16: 93,688,393 (GRCm39) |
K163E |
probably damaging |
Het |
Clec2d |
C |
A |
6: 129,161,107 (GRCm39) |
T68K |
probably benign |
Het |
Cwc27 |
T |
C |
13: 104,947,809 (GRCm39) |
T19A |
probably damaging |
Het |
Dnah7c |
A |
T |
1: 46,668,050 (GRCm39) |
Y1519F |
possibly damaging |
Het |
E130308A19Rik |
A |
T |
4: 59,752,288 (GRCm39) |
K467M |
probably damaging |
Het |
Garnl3 |
T |
C |
2: 32,944,208 (GRCm39) |
Y117C |
probably damaging |
Het |
Gas2l3 |
T |
C |
10: 89,249,231 (GRCm39) |
Y629C |
probably benign |
Het |
Lama1 |
A |
G |
17: 68,053,868 (GRCm39) |
N470D |
unknown |
Het |
Lmtk2 |
T |
A |
5: 144,110,615 (GRCm39) |
I445N |
probably damaging |
Het |
Lrba |
A |
G |
3: 86,261,570 (GRCm39) |
D1508G |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,416,021 (GRCm39) |
H2989R |
probably benign |
Het |
Niban2 |
T |
C |
2: 32,801,460 (GRCm39) |
|
probably null |
Het |
Nln |
A |
T |
13: 104,172,163 (GRCm39) |
W638R |
probably damaging |
Het |
Nup133 |
T |
C |
8: 124,671,017 (GRCm39) |
I127V |
possibly damaging |
Het |
Nup155 |
C |
T |
15: 8,165,379 (GRCm39) |
R672* |
probably null |
Het |
Prkcb |
A |
G |
7: 122,193,887 (GRCm39) |
Y532C |
probably damaging |
Het |
Ptpro |
A |
G |
6: 137,395,279 (GRCm39) |
|
probably null |
Het |
Rtca |
A |
G |
3: 116,301,398 (GRCm39) |
|
probably null |
Het |
Sdccag8 |
A |
G |
1: 176,682,193 (GRCm39) |
|
probably null |
Het |
Svil |
G |
T |
18: 5,056,437 (GRCm39) |
D524Y |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,560,636 (GRCm39) |
N788S |
probably benign |
Het |
Wdfy4 |
G |
T |
14: 32,764,469 (GRCm39) |
R2140S |
probably damaging |
Het |
Zfp518a |
A |
G |
19: 40,902,192 (GRCm39) |
K707R |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTGAAGGTGTCGTCCCACTC -3'
(R):5'- CAGCATTAACCAGGAGGCTC -3'
Sequencing Primer
(F):5'- ACTCAGGCAGGGCTTTCC -3'
(R):5'- GACGTGTCTCCTCAGGTAGAATC -3'
|
Posted On |
2018-08-29 |