Incidental Mutation 'IGL02282:Rab11fip5'
| ID |
289879 |
| 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 # |
IGL02282
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
85311944-85351616 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 85314534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 555
(T555S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045846]
[ENSMUST00000059034]
[ENSMUST00000060837]
[ENSMUST00000113787]
[ENSMUST00000113788]
[ENSMUST00000204087]
|
| AlphaFold |
Q8R361 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045846
|
| SMART Domains |
Protein: ENSMUSP00000041872
Gene: ENSMUSG00000033720
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
26 |
N/A |
INTRINSIC |
|
Pfam:Mtc
|
34 |
342 |
2.5e-126 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059034
|
| SMART Domains |
Protein: ENSMUSP00000054648
Gene: ENSMUSG00000033720
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
26 |
N/A |
INTRINSIC |
|
Pfam:Mtc
|
34 |
292 |
2.1e-87 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060837
AA Change: T555S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058305
Gene: ENSMUSG00000051343
AA Change: T555S
| 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 |
noncoding transcript
Transcript: ENSMUST00000102058
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113787
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113788
|
| SMART Domains |
Protein: ENSMUSP00000109418
Gene: ENSMUSG00000033720
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
26 |
N/A |
INTRINSIC |
|
Pfam:Mtc
|
34 |
89 |
6.7e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148179
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204087
AA Change: T1228S
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000145402
Gene: ENSMUSG00000051343
AA Change: T1228S
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204504
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149362
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203035
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,983,351 (GRCm39) |
D1545G |
probably damaging |
Het |
| Baiap3 |
A |
C |
17: 25,468,351 (GRCm39) |
D234E |
probably benign |
Het |
| Bltp2 |
C |
T |
11: 78,175,054 (GRCm39) |
P1730S |
probably benign |
Het |
| Cand1 |
T |
A |
10: 119,046,614 (GRCm39) |
T959S |
probably benign |
Het |
| Ctdspl2 |
A |
G |
2: 121,807,959 (GRCm39) |
|
probably benign |
Het |
| Cyp2a4 |
A |
C |
7: 26,008,472 (GRCm39) |
M205L |
probably benign |
Het |
| Dlx5 |
G |
A |
6: 6,881,762 (GRCm39) |
A42V |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,682,669 (GRCm39) |
I267T |
possibly damaging |
Het |
| Dnajb6 |
A |
G |
5: 29,957,416 (GRCm39) |
D66G |
probably damaging |
Het |
| Fgf8 |
T |
C |
19: 45,725,529 (GRCm39) |
H201R |
possibly damaging |
Het |
| Gpc1 |
A |
G |
1: 92,785,689 (GRCm39) |
K460E |
probably damaging |
Het |
| Gzme |
A |
T |
14: 56,355,826 (GRCm39) |
L162Q |
probably damaging |
Het |
| Ik |
G |
A |
18: 36,878,697 (GRCm39) |
G17D |
probably damaging |
Het |
| Il4 |
G |
A |
11: 53,509,001 (GRCm39) |
T59M |
probably damaging |
Het |
| Kcnh3 |
G |
T |
15: 99,125,924 (GRCm39) |
|
probably null |
Het |
| Mill1 |
G |
T |
7: 17,997,129 (GRCm39) |
|
probably null |
Het |
| Npbwr1 |
A |
T |
1: 5,987,184 (GRCm39) |
M110K |
possibly damaging |
Het |
| Opalin |
A |
T |
19: 41,054,943 (GRCm39) |
S84T |
probably benign |
Het |
| Or10w1 |
T |
A |
19: 13,632,622 (GRCm39) |
D276E |
probably damaging |
Het |
| Or7g30 |
A |
G |
9: 19,352,914 (GRCm39) |
Y235C |
probably benign |
Het |
| Or8b35 |
A |
T |
9: 37,904,318 (GRCm39) |
I177F |
probably damaging |
Het |
| Pcdhb11 |
T |
C |
18: 37,556,881 (GRCm39) |
L737P |
probably damaging |
Het |
| Phip |
G |
A |
9: 82,795,743 (GRCm39) |
S626L |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,919,322 (GRCm39) |
D435G |
probably damaging |
Het |
| Prss37 |
A |
G |
6: 40,492,317 (GRCm39) |
V178A |
possibly damaging |
Het |
| Ptpn7 |
A |
G |
1: 135,062,572 (GRCm39) |
I104V |
probably damaging |
Het |
| Ptprn |
A |
G |
1: 75,229,800 (GRCm39) |
Y700H |
probably damaging |
Het |
| Rfwd3 |
A |
T |
8: 112,020,614 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
G |
A |
16: 72,539,026 (GRCm39) |
R41H |
probably damaging |
Het |
| Rps3 |
A |
G |
7: 99,128,479 (GRCm39) |
|
probably null |
Het |
| Ruvbl2 |
G |
A |
7: 45,074,589 (GRCm39) |
T183I |
probably benign |
Het |
| Sema4c |
A |
T |
1: 36,589,284 (GRCm39) |
|
probably null |
Het |
| Shoc1 |
A |
C |
4: 59,111,114 (GRCm39) |
Y53D |
unknown |
Het |
| Taar8b |
T |
A |
10: 23,967,453 (GRCm39) |
K247I |
possibly damaging |
Het |
| Tacr3 |
A |
T |
3: 134,566,834 (GRCm39) |
I236F |
probably benign |
Het |
| Ttc21b |
A |
G |
2: 66,022,081 (GRCm39) |
I1168T |
probably damaging |
Het |
| Ttc9b |
A |
T |
7: 27,355,336 (GRCm39) |
D202V |
probably damaging |
Het |
| Vmn2r26 |
T |
G |
6: 124,038,584 (GRCm39) |
C720G |
probably damaging |
Het |
| Vmn2r37 |
A |
G |
7: 9,209,761 (GRCm39) |
S584P |
probably benign |
Het |
| Wnk2 |
T |
A |
13: 49,221,601 (GRCm39) |
D1208V |
probably damaging |
Het |
| Zfp988 |
T |
A |
4: 147,416,125 (GRCm39) |
C186* |
probably null |
Het |
| Zp3 |
A |
G |
5: 136,013,205 (GRCm39) |
N179S |
possibly damaging |
Het |
|
| Other mutations in Rab11fip5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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