Incidental Mutation 'IGL02832:Rab11fip1'
| ID |
361489 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rab11fip1
|
| Ensembl Gene |
ENSMUSG00000031488 |
| Gene Name |
RAB11 family interacting protein 1 (class I) |
| Synonyms |
2010200K21Rik, 4833414G05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
IGL02832
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
27628801-27664674 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 27642840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 653
(R653Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033878]
[ENSMUST00000054212]
[ENSMUST00000209377]
|
| AlphaFold |
Q9D620 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033878
|
| SMART Domains |
Protein: ENSMUSP00000033878
Gene: ENSMUSG00000031488
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
19 |
125 |
1.57e-13 |
SMART |
|
low complexity region
|
173 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
201 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
423 |
438 |
N/A |
INTRINSIC |
|
Pfam:RBD-FIP
|
588 |
635 |
6.1e-25 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054212
AA Change: R653Q
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000058042
Gene: ENSMUSG00000031488
AA Change: R653Q
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
19 |
125 |
1.57e-13 |
SMART |
|
low complexity region
|
173 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
201 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
423 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
600 |
N/A |
INTRINSIC |
|
low complexity region
|
695 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
745 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
882 |
893 |
N/A |
INTRINSIC |
|
low complexity region
|
976 |
983 |
N/A |
INTRINSIC |
|
low complexity region
|
992 |
999 |
N/A |
INTRINSIC |
|
Pfam:RBD-FIP
|
1109 |
1156 |
3.8e-25 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209377
AA Change: R653Q
PolyPhen 2
Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210187
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the Rab11-family interacting proteins (Rab11-FIPs), which play a role in the Rab-11 mediated recycling of vesicles. The encoded protein may be involved in endocytic sorting, trafficking of proteins including integrin subunits and epidermal growth factor receptor (EGFR), and transport between the recycling endosome and the trans-Golgi network. Alternative splicing results in multiple transcript variants. A pseudogene is described on the X chromosome. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous knockout results in reduced metastatic potential of pancreatic adenocarcinoma (PDAC) tumor cells in KPC (PDAC model) mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
G |
A |
6: 92,784,156 (GRCm39) |
T985M |
probably damaging |
Het |
| Alpk1 |
A |
G |
3: 127,473,592 (GRCm39) |
S804P |
possibly damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,664,835 (GRCm39) |
I925V |
unknown |
Het |
| Cep135 |
T |
A |
5: 76,788,796 (GRCm39) |
S1130T |
probably damaging |
Het |
| Cers3 |
A |
T |
7: 66,431,573 (GRCm39) |
M183L |
probably benign |
Het |
| Col5a1 |
A |
G |
2: 27,842,352 (GRCm39) |
E409G |
unknown |
Het |
| Cyp4a32 |
G |
T |
4: 115,471,818 (GRCm39) |
V410F |
probably damaging |
Het |
| Ddx1 |
G |
A |
12: 13,277,318 (GRCm39) |
Q528* |
probably null |
Het |
| Dio2 |
G |
A |
12: 90,696,178 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
G |
T |
11: 65,931,172 (GRCm39) |
A2008E |
probably damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,965,408 (GRCm39) |
V457A |
probably benign |
Het |
| Dytn |
T |
C |
1: 63,682,532 (GRCm39) |
T372A |
probably benign |
Het |
| Fam135a |
T |
C |
1: 24,067,714 (GRCm39) |
I152V |
probably benign |
Het |
| Fmnl2 |
C |
T |
2: 52,748,261 (GRCm39) |
A36V |
possibly damaging |
Het |
| Galnt7 |
G |
A |
8: 58,005,531 (GRCm39) |
T234I |
probably damaging |
Het |
| Gba1 |
A |
C |
3: 89,110,809 (GRCm39) |
I6L |
probably benign |
Het |
| Gja10 |
A |
G |
4: 32,602,147 (GRCm39) |
V79A |
probably damaging |
Het |
| Gpd2 |
T |
A |
2: 57,228,991 (GRCm39) |
V265E |
probably damaging |
Het |
| Gpld1 |
T |
C |
13: 25,136,861 (GRCm39) |
Y60H |
probably damaging |
Het |
| H2bc27 |
A |
G |
11: 58,839,869 (GRCm39) |
K35R |
probably benign |
Het |
| Heatr9 |
A |
G |
11: 83,409,672 (GRCm39) |
|
probably benign |
Het |
| Krt75 |
T |
A |
15: 101,476,508 (GRCm39) |
D419V |
probably benign |
Het |
| Lrig3 |
A |
T |
10: 125,842,871 (GRCm39) |
I599F |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,341,925 (GRCm39) |
D1846G |
probably damaging |
Het |
| Mamdc2 |
C |
T |
19: 23,281,215 (GRCm39) |
A653T |
probably damaging |
Het |
| Myo7a |
A |
T |
7: 97,740,227 (GRCm39) |
|
probably null |
Het |
| Notch2 |
A |
G |
3: 98,044,689 (GRCm39) |
D1537G |
probably benign |
Het |
| Or10k2 |
G |
A |
8: 84,268,100 (GRCm39) |
C109Y |
probably damaging |
Het |
| Or51a25 |
G |
T |
7: 102,372,858 (GRCm39) |
H280N |
probably benign |
Het |
| Or52ae7 |
A |
T |
7: 103,119,905 (GRCm39) |
I220L |
probably benign |
Het |
| Papss1 |
A |
C |
3: 131,288,280 (GRCm39) |
D84A |
probably damaging |
Het |
| Pcdhb16 |
T |
A |
18: 37,611,527 (GRCm39) |
D162E |
probably damaging |
Het |
| Rap1gap2 |
A |
T |
11: 74,303,281 (GRCm39) |
|
probably benign |
Het |
| Rasal2 |
T |
C |
1: 156,984,777 (GRCm39) |
D990G |
probably damaging |
Het |
| Rnf32 |
T |
C |
5: 29,410,701 (GRCm39) |
|
probably null |
Het |
| Rp1 |
T |
C |
1: 4,419,936 (GRCm39) |
D392G |
probably benign |
Het |
| Scn9a |
T |
C |
2: 66,398,373 (GRCm39) |
D79G |
probably damaging |
Het |
| Selenon |
A |
T |
4: 134,268,219 (GRCm39) |
V438D |
probably damaging |
Het |
| Slc47a1 |
G |
A |
11: 61,254,239 (GRCm39) |
H158Y |
probably benign |
Het |
| Slc5a12 |
A |
T |
2: 110,471,160 (GRCm39) |
E463D |
probably benign |
Het |
| Taf2 |
C |
T |
15: 54,879,959 (GRCm39) |
V1126M |
probably benign |
Het |
| Tas2r143 |
G |
T |
6: 42,377,259 (GRCm39) |
V30L |
possibly damaging |
Het |
| Tcea3 |
G |
A |
4: 135,995,424 (GRCm39) |
V256M |
probably damaging |
Het |
| Thy1 |
A |
G |
9: 43,958,111 (GRCm39) |
T80A |
probably benign |
Het |
| Tmem9 |
A |
G |
1: 135,947,469 (GRCm39) |
N47S |
probably damaging |
Het |
| Tmprss11g |
T |
C |
5: 86,645,128 (GRCm39) |
Q101R |
probably benign |
Het |
| Trim66 |
C |
T |
7: 109,059,704 (GRCm39) |
C792Y |
probably damaging |
Het |
| Tstd2 |
A |
T |
4: 46,124,949 (GRCm39) |
M226K |
probably damaging |
Het |
| Utrn |
G |
T |
10: 12,613,937 (GRCm39) |
T378K |
possibly damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,681,355 (GRCm39) |
I88V |
probably benign |
Het |
|
| Other mutations in Rab11fip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01505:Rab11fip1
|
APN |
8 |
27,644,804 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01976:Rab11fip1
|
APN |
8 |
27,642,825 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02799:Rab11fip1
|
UTSW |
8 |
27,642,788 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0046:Rab11fip1
|
UTSW |
8 |
27,643,149 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0046:Rab11fip1
|
UTSW |
8 |
27,643,149 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0145:Rab11fip1
|
UTSW |
8 |
27,633,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0243:Rab11fip1
|
UTSW |
8 |
27,642,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0427:Rab11fip1
|
UTSW |
8 |
27,644,520 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1341:Rab11fip1
|
UTSW |
8 |
27,633,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1487:Rab11fip1
|
UTSW |
8 |
27,644,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1509:Rab11fip1
|
UTSW |
8 |
27,643,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Rab11fip1
|
UTSW |
8 |
27,642,438 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3832:Rab11fip1
|
UTSW |
8 |
27,642,774 (GRCm39) |
missense |
probably benign |
|
|
R4157:Rab11fip1
|
UTSW |
8 |
27,642,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4451:Rab11fip1
|
UTSW |
8 |
27,644,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4595:Rab11fip1
|
UTSW |
8 |
27,644,603 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4620:Rab11fip1
|
UTSW |
8 |
27,644,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4753:Rab11fip1
|
UTSW |
8 |
27,642,769 (GRCm39) |
missense |
probably benign |
|
|
R4834:Rab11fip1
|
UTSW |
8 |
27,643,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4958:Rab11fip1
|
UTSW |
8 |
27,644,841 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5102:Rab11fip1
|
UTSW |
8 |
27,646,402 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5558:Rab11fip1
|
UTSW |
8 |
27,642,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5752:Rab11fip1
|
UTSW |
8 |
27,646,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5859:Rab11fip1
|
UTSW |
8 |
27,644,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6525:Rab11fip1
|
UTSW |
8 |
27,646,527 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6527:Rab11fip1
|
UTSW |
8 |
27,664,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6551:Rab11fip1
|
UTSW |
8 |
27,646,512 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6695:Rab11fip1
|
UTSW |
8 |
27,633,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6730:Rab11fip1
|
UTSW |
8 |
27,633,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6810:Rab11fip1
|
UTSW |
8 |
27,642,760 (GRCm39) |
frame shift |
probably null |
|
|
R6925:Rab11fip1
|
UTSW |
8 |
27,643,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6941:Rab11fip1
|
UTSW |
8 |
27,646,303 (GRCm39) |
nonsense |
probably null |
|
|
R7481:Rab11fip1
|
UTSW |
8 |
27,646,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7504:Rab11fip1
|
UTSW |
8 |
27,642,981 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7610:Rab11fip1
|
UTSW |
8 |
27,642,064 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8264:Rab11fip1
|
UTSW |
8 |
27,642,508 (GRCm39) |
nonsense |
probably null |
|
|
R8360:Rab11fip1
|
UTSW |
8 |
27,642,374 (GRCm39) |
nonsense |
probably null |
|
|
R8958:Rab11fip1
|
UTSW |
8 |
27,644,940 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9025:Rab11fip1
|
UTSW |
8 |
27,644,736 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9093:Rab11fip1
|
UTSW |
8 |
27,633,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-12-18 |
Incidental Mutation