Incidental Mutation 'IGL01606:Reps1'
| ID |
93407 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Reps1
|
| Ensembl Gene |
ENSMUSG00000019854 |
| Gene Name |
RalBP1 associated Eps domain containing protein |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.505)
|
| Stock # |
IGL01606
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
18055861-18125155 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18107687 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 426
(E426G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126390]
[ENSMUST00000154718]
[ENSMUST00000155284]
[ENSMUST00000164556]
|
| AlphaFold |
O54916 |
| PDB Structure |
SOLUTION STRUCTURE OF THE REPS1 EH DOMAIN [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126390
AA Change: E426G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123238
Gene: ENSMUSG00000019854
AA Change: E426G
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
3 |
99 |
2.34e-2 |
SMART |
|
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
265 |
N/A |
INTRINSIC |
|
EH
|
278 |
373 |
2.18e-34 |
SMART |
|
low complexity region
|
390 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
545 |
561 |
N/A |
INTRINSIC |
|
low complexity region
|
574 |
599 |
N/A |
INTRINSIC |
|
Blast:MYSc
|
613 |
671 |
1e-15 |
BLAST |
|
coiled coil region
|
750 |
790 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128711
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150029
|
| SMART Domains |
Protein: ENSMUSP00000119651
Gene: ENSMUSG00000019854
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:EH
|
2 |
86 |
5e-51 |
BLAST |
|
low complexity region
|
143 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
203 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
252 |
N/A |
INTRINSIC |
|
EH
|
265 |
360 |
2.18e-34 |
SMART |
|
low complexity region
|
377 |
393 |
N/A |
INTRINSIC |
|
low complexity region
|
505 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
534 |
559 |
N/A |
INTRINSIC |
|
Blast:MYSc
|
573 |
631 |
1e-15 |
BLAST |
|
coiled coil region
|
709 |
749 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154718
|
| SMART Domains |
Protein: ENSMUSP00000119358
Gene: ENSMUSG00000019854
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
3 |
99 |
2.34e-2 |
SMART |
|
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
265 |
N/A |
INTRINSIC |
|
EH
|
278 |
373 |
2.18e-34 |
SMART |
|
low complexity region
|
390 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
484 |
509 |
N/A |
INTRINSIC |
|
Blast:MYSc
|
523 |
581 |
9e-16 |
BLAST |
|
coiled coil region
|
660 |
700 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155284
|
| SMART Domains |
Protein: ENSMUSP00000119629
Gene: ENSMUSG00000019854
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:EH
|
3 |
99 |
6e-65 |
BLAST |
|
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000155892
AA Change: E133G
|
| SMART Domains |
Protein: ENSMUSP00000117431
Gene: ENSMUSG00000019854
AA Change: E133G
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
2 |
82 |
9.44e-21 |
SMART |
|
low complexity region
|
99 |
115 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155959
|
| SMART Domains |
Protein: ENSMUSP00000114387
Gene: ENSMUSG00000019854
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
86 |
N/A |
INTRINSIC |
|
EH
|
99 |
194 |
2.18e-34 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164556
|
| SMART Domains |
Protein: ENSMUSP00000130501
Gene: ENSMUSG00000019854
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
3 |
99 |
2.34e-2 |
SMART |
|
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
265 |
N/A |
INTRINSIC |
|
EH
|
278 |
373 |
2.18e-34 |
SMART |
|
low complexity region
|
390 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
547 |
572 |
N/A |
INTRINSIC |
|
Blast:MYSc
|
586 |
644 |
9e-16 |
BLAST |
|
coiled coil region
|
723 |
763 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216576
|
| 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 a signaling adaptor protein with two EH domains that interacts with proteins that participate in signaling, endocytosis and cytoskeletal changes. The encoded protein has been found in association with intersectin 1 and Src homology 3-domain growth factor receptor-bound 2-like (endophilin) interacting protein 1 when intersectin 1 was isolated from clathrin-coated pits. The encoded protein has also been shown to interact with amphiphysin, a cytoplasmic protein at the surface of synaptic vesicles. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
A |
G |
17: 14,943,863 (GRCm38) |
D84G |
probably damaging |
Het |
| Adat3 |
A |
T |
10: 80,607,338 (GRCm38) |
I337F |
probably damaging |
Het |
| Carmil3 |
T |
A |
14: 55,493,849 (GRCm38) |
N128K |
possibly damaging |
Het |
| Ceacam2 |
T |
C |
7: 25,530,707 (GRCm38) |
E158G |
possibly damaging |
Het |
| Cel |
T |
C |
2: 28,560,564 (GRCm38) |
I150V |
probably benign |
Het |
| Chd5 |
A |
G |
4: 152,360,975 (GRCm38) |
H441R |
probably damaging |
Het |
| Clic5 |
G |
T |
17: 44,248,746 (GRCm38) |
R109L |
probably benign |
Het |
| Cpd |
T |
C |
11: 76,812,640 (GRCm38) |
M466V |
probably benign |
Het |
| Cyp39a1 |
T |
A |
17: 43,746,618 (GRCm38) |
|
probably benign |
Het |
| Dnah11 |
C |
A |
12: 117,983,032 (GRCm38) |
A3106S |
probably benign |
Het |
| Fasn |
A |
C |
11: 120,809,023 (GRCm38) |
|
probably null |
Het |
| Fat1 |
G |
A |
8: 45,023,049 (GRCm38) |
V1688I |
probably benign |
Het |
| Fibcd1 |
A |
G |
2: 31,833,853 (GRCm38) |
I258T |
probably benign |
Het |
| Frem2 |
C |
A |
3: 53,653,591 (GRCm38) |
R1165I |
possibly damaging |
Het |
| Gm5627 |
C |
T |
9: 102,749,486 (GRCm38) |
|
noncoding transcript |
Het |
| Gm5862 |
T |
A |
5: 26,019,516 (GRCm38) |
T152S |
probably benign |
Het |
| Gnb3 |
T |
A |
6: 124,837,255 (GRCm38) |
D154V |
probably damaging |
Het |
| Ighv1-14 |
T |
C |
12: 114,646,837 (GRCm38) |
|
noncoding transcript |
Het |
| Klrb1 |
C |
A |
6: 128,723,005 (GRCm38) |
E14D |
probably benign |
Het |
| Osbpl1a |
A |
T |
18: 12,756,214 (GRCm38) |
D556E |
possibly damaging |
Het |
| Pkd1 |
T |
C |
17: 24,576,523 (GRCm38) |
V2330A |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,817,700 (GRCm38) |
K1345R |
possibly damaging |
Het |
| Plxna4 |
A |
G |
6: 32,158,001 (GRCm38) |
F1756L |
probably damaging |
Het |
| Psg28 |
A |
C |
7: 18,430,371 (GRCm38) |
S139A |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,808,481 (GRCm38) |
I395N |
possibly damaging |
Het |
| Rtp4 |
T |
A |
16: 23,613,254 (GRCm38) |
S179T |
probably benign |
Het |
| Sh3pxd2a |
C |
A |
19: 47,268,596 (GRCm38) |
R561L |
probably benign |
Het |
| Slc29a2 |
T |
A |
19: 5,027,439 (GRCm38) |
L215Q |
possibly damaging |
Het |
| Slc44a4 |
T |
C |
17: 34,929,018 (GRCm38) |
F653L |
probably damaging |
Het |
| Sulf1 |
G |
T |
1: 12,836,204 (GRCm38) |
R490L |
possibly damaging |
Het |
| Ttll4 |
T |
C |
1: 74,685,893 (GRCm38) |
L602P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,776,790 (GRCm38) |
V17963A |
probably damaging |
Het |
| Urb1 |
A |
G |
16: 90,760,459 (GRCm38) |
S1760P |
probably damaging |
Het |
| Zmynd11 |
G |
A |
13: 9,697,688 (GRCm38) |
R149W |
probably damaging |
Het |
|
| Other mutations in Reps1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01019:Reps1
|
APN |
10 |
18,124,895 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01161:Reps1
|
APN |
10 |
18,093,895 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01937:Reps1
|
APN |
10 |
18,093,836 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL01945:Reps1
|
APN |
10 |
18,093,836 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02208:Reps1
|
APN |
10 |
18,119,022 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02335:Reps1
|
APN |
10 |
18,056,117 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02706:Reps1
|
APN |
10 |
18,123,015 (GRCm38) |
splice site |
probably benign |
|
|
IGL02747:Reps1
|
APN |
10 |
18,123,600 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0554:Reps1
|
UTSW |
10 |
18,123,119 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R0628:Reps1
|
UTSW |
10 |
18,121,093 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1074:Reps1
|
UTSW |
10 |
18,094,446 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1710:Reps1
|
UTSW |
10 |
18,118,950 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R1829:Reps1
|
UTSW |
10 |
18,107,714 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2116:Reps1
|
UTSW |
10 |
18,124,920 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2146:Reps1
|
UTSW |
10 |
18,093,313 (GRCm38) |
missense |
probably benign |
|
|
R2161:Reps1
|
UTSW |
10 |
18,096,283 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3704:Reps1
|
UTSW |
10 |
18,107,680 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4115:Reps1
|
UTSW |
10 |
18,104,207 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4654:Reps1
|
UTSW |
10 |
18,114,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4856:Reps1
|
UTSW |
10 |
18,123,625 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4910:Reps1
|
UTSW |
10 |
18,107,688 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5127:Reps1
|
UTSW |
10 |
18,093,880 (GRCm38) |
missense |
probably benign |
|
|
R5521:Reps1
|
UTSW |
10 |
18,104,234 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5707:Reps1
|
UTSW |
10 |
18,056,010 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5724:Reps1
|
UTSW |
10 |
18,114,483 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R6564:Reps1
|
UTSW |
10 |
18,122,392 (GRCm38) |
splice site |
probably null |
|
|
R6996:Reps1
|
UTSW |
10 |
18,093,855 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7026:Reps1
|
UTSW |
10 |
18,107,689 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7423:Reps1
|
UTSW |
10 |
18,093,887 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R8507:Reps1
|
UTSW |
10 |
18,094,470 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8703:Reps1
|
UTSW |
10 |
18,093,242 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0062:Reps1
|
UTSW |
10 |
18,104,226 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1176:Reps1
|
UTSW |
10 |
18,123,125 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1177:Reps1
|
UTSW |
10 |
18,124,924 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Reps1
|
UTSW |
10 |
18,093,779 (GRCm38) |
missense |
probably benign |
0.05 |
|
| Posted On |
2013-12-09 |
Incidental Mutation