Incidental Mutation 'R8674:Rab11fip5'
| ID |
661299 |
| 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 |
068529-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8674 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
85311944-85351616 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 85318910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 660
(M660L)
|
| 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: M660L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000145402
Gene: ENSMUSG00000051343
AA Change: M660L
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (38/38) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
T |
C |
12: 72,956,696 (GRCm39) |
I165V |
probably benign |
Het |
| Adgrg1 |
A |
T |
8: 95,727,526 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,983,360 (GRCm39) |
I1548T |
probably damaging |
Het |
| Alox12b |
A |
G |
11: 69,054,801 (GRCm39) |
Y268C |
possibly damaging |
Het |
| Chd8 |
T |
C |
14: 52,450,463 (GRCm39) |
D1465G |
probably damaging |
Het |
| Csgalnact1 |
A |
G |
8: 68,826,268 (GRCm39) |
V350A |
possibly damaging |
Het |
| Cyp4a29 |
A |
T |
4: 115,106,882 (GRCm39) |
I180F |
probably benign |
Het |
| Dcaf1 |
T |
A |
9: 106,740,896 (GRCm39) |
D1294E |
probably damaging |
Het |
| Defb47 |
T |
C |
14: 63,235,579 (GRCm39) |
L10P |
possibly damaging |
Het |
| Gpr179 |
T |
C |
11: 97,225,873 (GRCm39) |
E2094G |
probably benign |
Het |
| Gtse1 |
C |
A |
15: 85,746,376 (GRCm39) |
P64Q |
probably damaging |
Het |
| Gys2 |
A |
G |
6: 142,376,048 (GRCm39) |
V538A |
probably benign |
Het |
| Hmgxb3 |
G |
A |
18: 61,269,303 (GRCm39) |
S993L |
probably benign |
Het |
| Lgals8 |
A |
T |
13: 12,462,117 (GRCm39) |
F238I |
probably damaging |
Het |
| Ltn1 |
A |
C |
16: 87,195,673 (GRCm39) |
D1284E |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,705,257 (GRCm39) |
E1925G |
probably damaging |
Het |
| Nck1 |
T |
C |
9: 100,390,580 (GRCm39) |
N43S |
probably damaging |
Het |
| Nsun5 |
C |
A |
5: 135,400,394 (GRCm39) |
T145N |
probably damaging |
Het |
| Or10d1 |
T |
C |
9: 39,484,249 (GRCm39) |
Y102C |
probably damaging |
Het |
| Or10d3 |
A |
G |
9: 39,461,675 (GRCm39) |
F164S |
probably damaging |
Het |
| Or10x4 |
A |
G |
1: 174,219,258 (GRCm39) |
T208A |
probably damaging |
Het |
| Or4c103 |
T |
A |
2: 88,513,774 (GRCm39) |
T101S |
probably benign |
Het |
| Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
| Ppp4r4 |
A |
G |
12: 103,562,720 (GRCm39) |
E563G |
probably damaging |
Het |
| Pramel42 |
T |
C |
5: 94,685,605 (GRCm39) |
C422R |
probably damaging |
Het |
| Rbm47 |
T |
A |
5: 66,176,742 (GRCm39) |
N527I |
possibly damaging |
Het |
| Rpl12 |
T |
A |
2: 32,852,122 (GRCm39) |
|
probably benign |
Het |
| Slc22a14 |
C |
A |
9: 119,007,467 (GRCm39) |
W314L |
probably null |
Het |
| Spen |
C |
T |
4: 141,197,681 (GRCm39) |
A3396T |
probably benign |
Het |
| Sphkap |
A |
G |
1: 83,255,565 (GRCm39) |
V728A |
probably benign |
Het |
| Spint4 |
T |
A |
2: 164,542,902 (GRCm39) |
|
probably null |
Het |
| Sptbn1 |
A |
G |
11: 30,089,352 (GRCm39) |
S637P |
possibly damaging |
Het |
| Trpm7 |
T |
C |
2: 126,641,086 (GRCm39) |
|
probably benign |
Het |
| Trrap |
C |
T |
5: 144,727,842 (GRCm39) |
T521I |
probably benign |
Het |
| Vmn2r44 |
T |
C |
7: 8,380,822 (GRCm39) |
Y357C |
probably damaging |
Het |
| Vwa2 |
A |
G |
19: 56,875,427 (GRCm39) |
D82G |
possibly damaging |
Het |
| Zdhhc17 |
A |
G |
10: 110,785,540 (GRCm39) |
I424T |
probably benign |
Het |
| Zmiz1 |
A |
G |
14: 25,647,410 (GRCm39) |
I409M |
probably benign |
Het |
| Zscan18 |
T |
C |
7: 12,504,827 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- GGGTCAGACATACTTGTGCTTG -3'
(R):5'- CGTTCCTCAACTCCTTGCAGAG -3'
Sequencing Primer
(F):5'- CAGACATACTTGTGCTTGGCTGG -3'
(R):5'- TCTTCGAGGATCTCAAAGCCG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation