Incidental Mutation 'R8476:Rabep2'
| ID |
657266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rabep2
|
| Ensembl Gene |
ENSMUSG00000030727 |
| Gene Name |
rabaptin, RAB GTPase binding effector protein 2 |
| Synonyms |
2610011A08Rik |
| MMRRC Submission |
067920-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.408)
|
| Stock # |
R8476 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126027596-126045079 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 126034915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 64
(R64*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123559
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106405]
[ENSMUST00000106407]
[ENSMUST00000150530]
[ENSMUST00000150933]
|
| AlphaFold |
Q91WG2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000106405
AA Change: R64*
|
| SMART Domains |
Protein: ENSMUSP00000102013
Gene: ENSMUSG00000030727
AA Change: R64*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rabaptin
|
2 |
107 |
1.4e-41 |
PFAM |
|
low complexity region
|
139 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
175 |
194 |
N/A |
INTRINSIC |
|
Pfam:Rabaptin
|
196 |
311 |
5.9e-10 |
PFAM |
|
Pfam:Rab5-bind
|
289 |
456 |
4.6e-36 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106407
AA Change: R107*
|
| SMART Domains |
Protein: ENSMUSP00000102015
Gene: ENSMUSG00000030727
AA Change: R107*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rabaptin
|
13 |
171 |
1.4e-39 |
PFAM |
|
low complexity region
|
182 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
237 |
N/A |
INTRINSIC |
|
Pfam:Rab5-bind
|
274 |
487 |
4.1e-21 |
PFAM |
|
Pfam:Rab5-bind
|
469 |
531 |
1.6e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150530
|
| SMART Domains |
Protein: ENSMUSP00000122141
Gene: ENSMUSG00000030727
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rabaptin
|
5 |
54 |
1.6e-15 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000150933
AA Change: R64*
|
| SMART Domains |
Protein: ENSMUSP00000123559
Gene: ENSMUSG00000030727
AA Change: R64*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rabaptin
|
2 |
91 |
2e-37 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,410,020 (GRCm39) |
I176F |
possibly damaging |
Het |
| Aen |
A |
G |
7: 78,556,947 (GRCm39) |
Y123C |
probably damaging |
Het |
| Ahnak2 |
C |
T |
12: 112,747,100 (GRCm39) |
|
probably benign |
Het |
| Anks1 |
T |
A |
17: 28,273,292 (GRCm39) |
D970E |
probably damaging |
Het |
| Atn1 |
C |
A |
6: 124,723,416 (GRCm39) |
|
probably benign |
Het |
| Bola1 |
G |
A |
3: 96,104,573 (GRCm39) |
A7V |
probably benign |
Het |
| Ccdc172 |
T |
A |
19: 58,541,270 (GRCm39) |
|
probably null |
Het |
| Ceacam11 |
T |
C |
7: 17,707,618 (GRCm39) |
I134T |
probably benign |
Het |
| Clec4e |
A |
G |
6: 123,263,235 (GRCm39) |
S73P |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,408,015 (GRCm39) |
I1939T |
probably benign |
Het |
| Dclk1 |
A |
T |
3: 55,441,100 (GRCm39) |
E432V |
probably damaging |
Het |
| Gba2 |
C |
T |
4: 43,569,944 (GRCm39) |
R423Q |
probably damaging |
Het |
| Gpr165 |
C |
A |
X: 95,757,623 (GRCm39) |
D7E |
probably benign |
Het |
| Kdm3a |
T |
C |
6: 71,588,693 (GRCm39) |
K439E |
probably damaging |
Het |
| Klhdc7a |
A |
C |
4: 139,693,051 (GRCm39) |
I632S |
probably damaging |
Het |
| Krt72 |
A |
T |
15: 101,686,701 (GRCm39) |
M415K |
probably damaging |
Het |
| Lax1 |
T |
A |
1: 133,611,326 (GRCm39) |
H82L |
probably benign |
Het |
| Morc2b |
T |
A |
17: 33,354,833 (GRCm39) |
T980S |
possibly damaging |
Het |
| Mta2 |
T |
A |
19: 8,928,352 (GRCm39) |
N550K |
probably benign |
Het |
| Or51f1 |
A |
T |
7: 102,506,152 (GRCm39) |
F112L |
probably benign |
Het |
| Or6d13 |
T |
A |
6: 116,517,507 (GRCm39) |
I31N |
probably benign |
Het |
| Pask |
A |
G |
1: 93,249,361 (GRCm39) |
W680R |
probably benign |
Het |
| Pcdhb13 |
A |
T |
18: 37,577,137 (GRCm39) |
N505I |
probably damaging |
Het |
| Pik3cd |
A |
T |
4: 149,736,277 (GRCm39) |
M984K |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,251,317 (GRCm39) |
Y520C |
probably damaging |
Het |
| Pum1 |
A |
G |
4: 130,480,024 (GRCm39) |
S547G |
possibly damaging |
Het |
| Rfxank |
T |
C |
8: 70,590,828 (GRCm39) |
N13S |
probably benign |
Het |
| Sall3 |
G |
T |
18: 81,015,333 (GRCm39) |
S865* |
probably null |
Het |
| Scaper |
T |
A |
9: 55,669,575 (GRCm39) |
D854V |
probably damaging |
Het |
| Slit3 |
G |
A |
11: 35,520,596 (GRCm39) |
D578N |
possibly damaging |
Het |
| Smarcd1 |
G |
T |
15: 99,600,305 (GRCm39) |
G35W |
probably damaging |
Het |
| Trim24 |
C |
T |
6: 37,922,578 (GRCm39) |
Q462* |
probably null |
Het |
| Ube3a |
C |
T |
7: 58,954,575 (GRCm39) |
T837I |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,699,821 (GRCm39) |
I740M |
possibly damaging |
Het |
|
| Other mutations in Rabep2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02203:Rabep2
|
APN |
7 |
126,039,566 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0799:Rabep2
|
UTSW |
7 |
126,037,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1219:Rabep2
|
UTSW |
7 |
126,028,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Rabep2
|
UTSW |
7 |
126,043,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1735:Rabep2
|
UTSW |
7 |
126,043,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1789:Rabep2
|
UTSW |
7 |
126,037,971 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1951:Rabep2
|
UTSW |
7 |
126,037,736 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2113:Rabep2
|
UTSW |
7 |
126,044,460 (GRCm39) |
splice site |
probably null |
|
|
R4008:Rabep2
|
UTSW |
7 |
126,044,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4357:Rabep2
|
UTSW |
7 |
126,047,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Rabep2
|
UTSW |
7 |
126,044,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5176:Rabep2
|
UTSW |
7 |
126,033,465 (GRCm39) |
intron |
probably benign |
|
|
R5512:Rabep2
|
UTSW |
7 |
126,037,971 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6729:Rabep2
|
UTSW |
7 |
126,039,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7055:Rabep2
|
UTSW |
7 |
126,044,485 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7288:Rabep2
|
UTSW |
7 |
126,043,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7419:Rabep2
|
UTSW |
7 |
126,043,342 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7426:Rabep2
|
UTSW |
7 |
126,037,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7477:Rabep2
|
UTSW |
7 |
126,043,990 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7801:Rabep2
|
UTSW |
7 |
126,037,584 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7823:Rabep2
|
UTSW |
7 |
126,037,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8245:Rabep2
|
UTSW |
7 |
126,039,580 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8265:Rabep2
|
UTSW |
7 |
126,043,423 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8679:Rabep2
|
UTSW |
7 |
126,034,848 (GRCm39) |
nonsense |
probably null |
|
|
R9022:Rabep2
|
UTSW |
7 |
126,043,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTGCTACTGAGGACCCTGG -3'
(R):5'- GAAGCTCTGTGTTCTACCCAG -3'
Sequencing Primer
(F):5'- AGAGGTGCTGAGGTCTTGCC -3'
(R):5'- CCCAGAATCATTACTGTGTCCAATG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation