Incidental Mutation 'R1219:Rabep2'
| ID |
99923 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rabep2
|
| Ensembl Gene |
ENSMUSG00000030727 |
| Gene Name |
rabaptin, RAB GTPase binding effector protein 2 |
| Synonyms |
2610011A08Rik |
| MMRRC Submission |
039288-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.408)
|
| Stock # |
R1219 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126027596-126045079 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126028799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 26
(E26G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102015
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106405]
[ENSMUST00000106407]
[ENSMUST00000150530]
[ENSMUST00000150933]
|
| AlphaFold |
Q91WG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106405
|
| SMART Domains |
Protein: ENSMUSP00000102013
Gene: ENSMUSG00000030727
| 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 damaging
Transcript: ENSMUST00000106407
AA Change: E26G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102015
Gene: ENSMUSG00000030727
AA Change: E26G
| 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 |
noncoding transcript
Transcript: ENSMUST00000141764
|
| 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 benign
Transcript: ENSMUST00000150933
|
| SMART Domains |
Protein: ENSMUSP00000123559
Gene: ENSMUSG00000030727
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rabaptin
|
2 |
91 |
2e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151304
|
| Meta Mutation Damage Score |
0.1176 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atad2 |
A |
G |
15: 57,998,307 (GRCm39) |
S22P |
probably benign |
Het |
| Atrn |
A |
T |
2: 130,862,927 (GRCm39) |
T1336S |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 37,000,619 (GRCm39) |
L1266* |
probably null |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Ccdc113 |
T |
C |
8: 96,264,895 (GRCm39) |
|
probably benign |
Het |
| Ccdc158 |
A |
G |
5: 92,802,040 (GRCm39) |
|
probably benign |
Het |
| Ciao3 |
T |
C |
17: 25,994,075 (GRCm39) |
I41T |
probably damaging |
Het |
| Dcun1d3 |
G |
T |
7: 119,458,631 (GRCm39) |
Q135K |
probably damaging |
Het |
| Dnah7b |
A |
C |
1: 46,379,280 (GRCm39) |
E3671D |
probably benign |
Het |
| Eea1 |
A |
G |
10: 95,846,623 (GRCm39) |
|
probably benign |
Het |
| Entrep3 |
T |
C |
3: 89,091,155 (GRCm39) |
V42A |
probably damaging |
Het |
| Gdf10 |
G |
A |
14: 33,654,710 (GRCm39) |
A406T |
probably benign |
Het |
| Gm5111 |
A |
G |
6: 48,567,328 (GRCm39) |
|
probably benign |
Het |
| Golga3 |
G |
T |
5: 110,332,215 (GRCm39) |
E50* |
probably null |
Het |
| Junb |
T |
C |
8: 85,704,268 (GRCm39) |
E264G |
probably damaging |
Het |
| Kash5 |
A |
G |
7: 44,838,832 (GRCm39) |
|
probably benign |
Het |
| Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
| Krt18 |
T |
C |
15: 101,939,723 (GRCm39) |
|
probably benign |
Het |
| Man1a |
G |
A |
10: 53,795,249 (GRCm39) |
|
probably benign |
Het |
| Mapkbp1 |
G |
T |
2: 119,849,831 (GRCm39) |
G768* |
probably null |
Het |
| Mybpc2 |
A |
C |
7: 44,165,458 (GRCm39) |
|
probably null |
Het |
| Nectin3 |
A |
T |
16: 46,275,042 (GRCm39) |
C238* |
probably null |
Het |
| Ntf3 |
G |
T |
6: 126,079,174 (GRCm39) |
R98S |
possibly damaging |
Het |
| Nup153 |
T |
G |
13: 46,840,695 (GRCm39) |
Q971P |
probably benign |
Het |
| Nup155 |
A |
G |
15: 8,146,822 (GRCm39) |
T221A |
possibly damaging |
Het |
| Ppp2r1b |
T |
C |
9: 50,778,621 (GRCm39) |
|
probably benign |
Het |
| Prkd1 |
A |
T |
12: 50,435,125 (GRCm39) |
V534E |
probably damaging |
Het |
| Rnf213 |
C |
A |
11: 119,327,003 (GRCm39) |
N1663K |
probably damaging |
Het |
| Slc1a1 |
G |
A |
19: 28,882,146 (GRCm39) |
|
probably benign |
Het |
| Slc36a4 |
T |
C |
9: 15,634,832 (GRCm39) |
Y125H |
probably damaging |
Het |
| Slc6a11 |
G |
A |
6: 114,202,772 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,862,578 (GRCm39) |
|
probably null |
Het |
| Sumf2 |
G |
T |
5: 129,883,613 (GRCm39) |
A164S |
probably benign |
Het |
| Sv2b |
T |
C |
7: 74,786,160 (GRCm39) |
D420G |
probably benign |
Het |
| Ube2v1 |
T |
C |
2: 167,459,831 (GRCm39) |
D56G |
probably benign |
Het |
| Ung |
A |
G |
5: 114,270,228 (GRCm39) |
|
probably benign |
Het |
| Vcan |
T |
C |
13: 89,828,023 (GRCm39) |
Y2181C |
probably damaging |
Het |
| Vmn1r238 |
G |
A |
18: 3,123,135 (GRCm39) |
T93I |
possibly damaging |
Het |
| Vmn2r14 |
A |
C |
5: 109,372,440 (GRCm39) |
S17A |
probably benign |
Het |
| Vmn2r25 |
A |
G |
6: 123,816,282 (GRCm39) |
V433A |
probably benign |
Het |
| Zfp36l2 |
A |
G |
17: 84,495,070 (GRCm39) |
|
probably null |
Het |
| Zfp646 |
G |
A |
7: 127,482,292 (GRCm39) |
G1490S |
probably benign |
Het |
| Zfp839 |
A |
G |
12: 110,834,707 (GRCm39) |
D654G |
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 |
|
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 |
|
R8476:Rabep2
|
UTSW |
7 |
126,034,915 (GRCm39) |
nonsense |
probably null |
|
|
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'- TCGAGCCAAGTTAGTTGGGACTCC -3'
(R):5'- GCTACCTGAAGCTCATCTGAAGCC -3'
Sequencing Primer
(F):5'- AGTTGGGACTCCGGGAGG -3'
(R):5'- CTGCATTCCCTGCTAGAGG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation