Incidental Mutation 'R6551:Rab11fip1'
| ID |
521622 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab11fip1
|
| Ensembl Gene |
ENSMUSG00000031488 |
| Gene Name |
RAB11 family interacting protein 1 (class I) |
| Synonyms |
2010200K21Rik, 4833414G05Rik |
| MMRRC Submission |
044676-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R6551 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
27628801-27664674 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 27646512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 188
(S188L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058042
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033878]
[ENSMUST00000054212]
[ENSMUST00000209377]
|
| AlphaFold |
Q9D620 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033878
AA Change: S188L
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000033878
Gene: ENSMUSG00000031488
AA Change: S188L
| 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 |
probably damaging
Transcript: ENSMUST00000054212
AA Change: S188L
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000058042
Gene: ENSMUSG00000031488
AA Change: S188L
| 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 |
probably benign
Transcript: ENSMUST00000209377
AA Change: S188L
PolyPhen 2
Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210187
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211028
|
| Meta Mutation Damage Score |
0.0835 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (41/41) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
T |
1: 192,856,831 (GRCm39) |
Q61L |
probably damaging |
Het |
| Acss2 |
T |
C |
2: 155,393,128 (GRCm39) |
S285P |
probably benign |
Het |
| Ager |
A |
G |
17: 34,818,442 (GRCm39) |
|
probably null |
Het |
| Alkbh7 |
T |
A |
17: 57,305,945 (GRCm39) |
Y115* |
probably null |
Het |
| Brwd1 |
T |
C |
16: 95,795,162 (GRCm39) |
D2184G |
possibly damaging |
Het |
| Chp1 |
T |
A |
2: 119,402,294 (GRCm39) |
H89Q |
possibly damaging |
Het |
| Clmp |
T |
C |
9: 40,682,573 (GRCm39) |
V119A |
probably benign |
Het |
| Cryge |
A |
T |
1: 65,087,796 (GRCm39) |
M171K |
probably benign |
Het |
| Cttnbp2nl |
A |
T |
3: 104,912,433 (GRCm39) |
S484T |
possibly damaging |
Het |
| Dsg3 |
C |
A |
18: 20,672,968 (GRCm39) |
P880T |
unknown |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Espn |
T |
C |
4: 152,213,223 (GRCm39) |
|
|
Het |
| Fbxo31 |
A |
C |
8: 122,291,443 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
A |
G |
6: 135,710,342 (GRCm39) |
V1068A |
probably damaging |
Het |
| Jak1 |
C |
A |
4: 101,051,040 (GRCm39) |
|
probably benign |
Het |
| Klra10 |
A |
T |
6: 130,252,718 (GRCm39) |
D185E |
probably benign |
Het |
| Lhx1 |
A |
C |
11: 84,412,739 (GRCm39) |
D60E |
probably benign |
Het |
| Lyar |
C |
A |
5: 38,390,616 (GRCm39) |
A326D |
probably damaging |
Het |
| Muc16 |
A |
C |
9: 18,473,858 (GRCm39) |
S1280A |
possibly damaging |
Het |
| Nol9 |
G |
A |
4: 152,136,325 (GRCm39) |
V466I |
possibly damaging |
Het |
| Or10d1 |
C |
A |
9: 39,483,856 (GRCm39) |
R233L |
probably benign |
Het |
| Or12e8 |
T |
C |
2: 87,677,005 (GRCm39) |
V130A |
possibly damaging |
Het |
| Or1e17 |
T |
C |
11: 73,831,129 (GRCm39) |
I19T |
probably benign |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Or2w3b |
A |
T |
11: 58,623,583 (GRCm39) |
M136K |
probably damaging |
Het |
| Or2y10 |
G |
T |
11: 49,454,816 (GRCm39) |
V23L |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 116,016,731 (GRCm39) |
I342N |
probably damaging |
Het |
| Pnldc1 |
A |
G |
17: 13,124,456 (GRCm39) |
M133T |
probably damaging |
Het |
| Rapgef2 |
A |
T |
3: 79,122,342 (GRCm39) |
|
probably null |
Het |
| Rnf103 |
G |
A |
6: 71,487,349 (GRCm39) |
C660Y |
probably damaging |
Het |
| Rph3al |
G |
A |
11: 75,797,372 (GRCm39) |
S108F |
possibly damaging |
Het |
| Srsf7 |
A |
C |
17: 80,511,648 (GRCm39) |
|
probably benign |
Het |
| Ssrp1 |
A |
G |
2: 84,871,450 (GRCm39) |
|
probably null |
Het |
| Tamm41 |
T |
C |
6: 114,989,142 (GRCm39) |
D284G |
possibly damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmem39b |
A |
G |
4: 129,585,896 (GRCm39) |
V25A |
probably benign |
Het |
| Tmem88b |
G |
T |
4: 155,870,149 (GRCm39) |
|
probably benign |
Het |
| Unk |
T |
C |
11: 115,941,550 (GRCm39) |
W266R |
probably damaging |
Het |
| Usp8 |
T |
A |
2: 126,575,102 (GRCm39) |
|
probably benign |
Het |
| Zbtb48 |
T |
G |
4: 152,106,678 (GRCm39) |
Q142P |
probably benign |
Het |
| Zdhhc18 |
T |
C |
4: 133,340,960 (GRCm39) |
T267A |
probably benign |
Het |
| Zfp335 |
G |
A |
2: 164,751,285 (GRCm39) |
P94S |
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 |
|
IGL02832:Rab11fip1
|
APN |
8 |
27,642,840 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGACTTGGAAGTGGGCAG -3'
(R):5'- TGCTTCCATCCAGAGCTAACC -3'
Sequencing Primer
(F):5'- GCAGGACAGACATGGACTG -3'
(R):5'- TGGTACACCCTGAAGTCCAAAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation