Incidental Mutation 'R5506:Rab11fip5'
ID |
430917 |
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 |
043067-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5506 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
85311944-85351616 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 85351119 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 131
(L131P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145402
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060837]
[ENSMUST00000204087]
|
AlphaFold |
Q8R361 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060837
AA Change: L131P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058305 Gene: ENSMUSG00000051343 AA Change: L131P
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 damaging
Transcript: ENSMUST00000204087
AA Change: L131P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000145402 Gene: ENSMUSG00000051343 AA Change: L131P
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 |
|
Meta Mutation Damage Score |
0.9577 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.4%
- 20x: 91.4%
|
Validation Efficiency |
100% (53/53) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
G |
T |
3: 137,773,708 (GRCm39) |
G966W |
probably damaging |
Het |
A930009A15Rik |
G |
T |
10: 115,414,267 (GRCm39) |
|
probably null |
Het |
Cant1 |
G |
T |
11: 118,302,268 (GRCm39) |
H16Q |
probably benign |
Het |
Capn3 |
G |
T |
2: 120,332,901 (GRCm39) |
V612F |
probably damaging |
Het |
Cep112 |
A |
T |
11: 108,555,429 (GRCm39) |
E141D |
probably damaging |
Het |
Cept1 |
A |
G |
3: 106,438,564 (GRCm39) |
V173A |
probably benign |
Het |
CN725425 |
A |
G |
15: 91,120,029 (GRCm39) |
D50G |
possibly damaging |
Het |
Cubn |
A |
T |
2: 13,496,506 (GRCm39) |
|
probably null |
Het |
Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
Dpp8 |
A |
G |
9: 64,985,391 (GRCm39) |
|
probably null |
Het |
Ecm1 |
G |
A |
3: 95,643,169 (GRCm39) |
T377I |
probably benign |
Het |
Exosc8 |
A |
G |
3: 54,638,600 (GRCm39) |
|
probably benign |
Het |
Fasn |
C |
T |
11: 120,700,336 (GRCm39) |
D2165N |
probably benign |
Het |
Gab2 |
A |
G |
7: 96,952,320 (GRCm39) |
E571G |
probably damaging |
Het |
Galnt5 |
C |
A |
2: 57,889,637 (GRCm39) |
H412Q |
probably benign |
Het |
Galr1 |
T |
A |
18: 82,423,989 (GRCm39) |
Y96F |
possibly damaging |
Het |
Garin1b |
G |
A |
6: 29,319,297 (GRCm39) |
E34K |
probably damaging |
Het |
Gnl2 |
C |
A |
4: 124,949,158 (GRCm39) |
|
probably benign |
Het |
H2ac22 |
A |
C |
13: 21,971,081 (GRCm39) |
I103S |
probably damaging |
Het |
H2ax |
T |
C |
9: 44,246,402 (GRCm39) |
V115A |
probably benign |
Het |
Heatr9 |
T |
C |
11: 83,405,592 (GRCm39) |
N317S |
possibly damaging |
Het |
Kndc1 |
A |
G |
7: 139,507,804 (GRCm39) |
Y1254C |
probably damaging |
Het |
Lrp6 |
A |
T |
6: 134,436,259 (GRCm39) |
D1302E |
probably benign |
Het |
Mc2r |
A |
T |
18: 68,541,019 (GRCm39) |
Y91* |
probably null |
Het |
Meis1 |
T |
G |
11: 18,891,747 (GRCm39) |
D267A |
possibly damaging |
Het |
Mki67 |
T |
C |
7: 135,301,710 (GRCm39) |
K1108R |
possibly damaging |
Het |
Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
Myh3 |
T |
G |
11: 66,974,915 (GRCm39) |
D219E |
probably damaging |
Het |
Niban2 |
G |
A |
2: 32,810,994 (GRCm39) |
V335M |
probably damaging |
Het |
Or10g1b |
T |
C |
14: 52,628,084 (GRCm39) |
I49V |
probably damaging |
Het |
Or7e166 |
T |
C |
9: 19,624,570 (GRCm39) |
L149P |
possibly damaging |
Het |
Pi4ka |
A |
G |
16: 17,111,817 (GRCm39) |
C1553R |
probably damaging |
Het |
Plekhb1 |
C |
A |
7: 100,294,150 (GRCm39) |
|
probably null |
Het |
Polr3d |
A |
T |
14: 70,678,199 (GRCm39) |
D165E |
possibly damaging |
Het |
Prb1c |
T |
C |
6: 132,338,819 (GRCm39) |
N133S |
unknown |
Het |
Psmb1 |
A |
G |
17: 15,710,478 (GRCm39) |
Y24H |
probably damaging |
Het |
Raph1 |
A |
T |
1: 60,532,657 (GRCm39) |
|
probably benign |
Het |
Rmc1 |
A |
G |
18: 12,322,013 (GRCm39) |
|
probably benign |
Het |
Scgb2b27 |
T |
G |
7: 33,711,484 (GRCm39) |
|
probably benign |
Het |
Serpina10 |
T |
C |
12: 103,592,920 (GRCm39) |
D264G |
probably damaging |
Het |
Sftpb |
A |
G |
6: 72,281,651 (GRCm39) |
T15A |
possibly damaging |
Het |
Slc20a1 |
T |
C |
2: 129,052,739 (GRCm39) |
F674L |
probably benign |
Het |
Syne2 |
A |
T |
12: 75,985,495 (GRCm39) |
N1648Y |
probably benign |
Het |
Thsd7a |
G |
T |
6: 12,332,016 (GRCm39) |
N1265K |
possibly damaging |
Het |
Trem2 |
T |
C |
17: 48,658,802 (GRCm39) |
L189P |
probably benign |
Het |
Washc4 |
A |
T |
10: 83,417,201 (GRCm39) |
R865S |
probably damaging |
Het |
Zfp536 |
A |
G |
7: 37,268,217 (GRCm39) |
S400P |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AACTCCATCAGGCCTTCCAG -3'
(R):5'- AGTGTTCGTTCGAGCTACC -3'
Sequencing Primer
(F):5'- CTGCTGGGGAGACAGTCAG -3'
(R):5'- TTCGAGCTACCGCCTGGAG -3'
|
Posted On |
2016-10-05 |