Incidental Mutation 'IGL02335:Reps1'
| ID |
289715 |
| 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 # |
IGL02335
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
18055861-18125155 bp(+) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 18056117 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126390]
[ENSMUST00000154718]
[ENSMUST00000155284]
[ENSMUST00000164556]
[ENSMUST00000216413]
|
| AlphaFold |
O54916 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000126390
|
| SMART Domains |
Protein: ENSMUSP00000123238
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
|
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 |
probably null
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 null
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 |
probably null
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: ENSMUST00000216413
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5830411N06Rik |
A |
T |
7: 140,296,540 (GRCm38) |
N526Y |
probably damaging |
Het |
| A4gnt |
C |
T |
9: 99,620,213 (GRCm38) |
T142I |
probably benign |
Het |
| Acaca |
A |
G |
11: 84,214,258 (GRCm38) |
T147A |
possibly damaging |
Het |
| Agbl3 |
A |
G |
6: 34,799,750 (GRCm38) |
D397G |
probably damaging |
Het |
| Ank1 |
C |
T |
8: 23,135,638 (GRCm38) |
T1597M |
possibly damaging |
Het |
| Arl4d |
A |
G |
11: 101,666,929 (GRCm38) |
T94A |
possibly damaging |
Het |
| Cd22 |
A |
G |
7: 30,876,134 (GRCm38) |
I161T |
probably damaging |
Het |
| Clcn7 |
C |
T |
17: 25,146,847 (GRCm38) |
L166F |
probably benign |
Het |
| Cnbd1 |
G |
T |
4: 19,055,095 (GRCm38) |
N110K |
possibly damaging |
Het |
| Col14a1 |
A |
T |
15: 55,463,769 (GRCm38) |
|
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,784,101 (GRCm38) |
V270M |
probably damaging |
Het |
| Cox8b |
C |
A |
7: 140,899,077 (GRCm38) |
G42W |
probably damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,680,845 (GRCm38) |
D275V |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,427,834 (GRCm38) |
|
probably null |
Het |
| Dctn2 |
T |
C |
10: 127,275,821 (GRCm38) |
|
probably benign |
Het |
| Dnm1l |
A |
G |
16: 16,342,740 (GRCm38) |
|
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,334,644 (GRCm38) |
E687G |
probably benign |
Het |
| Fbxw20 |
T |
C |
9: 109,223,309 (GRCm38) |
K249E |
possibly damaging |
Het |
| Fhl2 |
C |
T |
1: 43,128,390 (GRCm38) |
W181* |
probably null |
Het |
| G2e3 |
T |
A |
12: 51,369,158 (GRCm38) |
M559K |
probably benign |
Het |
| Gdap1l1 |
A |
T |
2: 163,447,595 (GRCm38) |
Y160F |
possibly damaging |
Het |
| Gm1110 |
T |
C |
9: 26,881,763 (GRCm38) |
I572M |
probably benign |
Het |
| Gm5538 |
G |
A |
3: 59,743,605 (GRCm38) |
M49I |
probably benign |
Het |
| Gpatch2l |
T |
A |
12: 86,256,937 (GRCm38) |
|
probably benign |
Het |
| Kcnq4 |
A |
G |
4: 120,715,854 (GRCm38) |
L250P |
probably damaging |
Het |
| Lamc2 |
A |
T |
1: 153,166,216 (GRCm38) |
N57K |
probably benign |
Het |
| Lingo1 |
A |
G |
9: 56,620,081 (GRCm38) |
L408P |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,977,147 (GRCm38) |
N804I |
possibly damaging |
Het |
| Mroh7 |
A |
G |
4: 106,707,782 (GRCm38) |
L545S |
probably damaging |
Het |
| Nup188 |
T |
A |
2: 30,323,636 (GRCm38) |
|
probably null |
Het |
| Olfr1442 |
T |
C |
19: 12,674,238 (GRCm38) |
I11T |
probably damaging |
Het |
| Olfr1494 |
A |
G |
19: 13,749,934 (GRCm38) |
D276G |
probably benign |
Het |
| Olfr96 |
A |
G |
17: 37,225,326 (GRCm38) |
N67S |
probably damaging |
Het |
| Pls1 |
A |
T |
9: 95,784,183 (GRCm38) |
N138K |
probably benign |
Het |
| Prkch |
C |
A |
12: 73,702,512 (GRCm38) |
N345K |
probably benign |
Het |
| Rrp7a |
T |
C |
15: 83,122,691 (GRCm38) |
E15G |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,277,661 (GRCm38) |
T1557S |
possibly damaging |
Het |
| Smtn |
T |
C |
11: 3,526,215 (GRCm38) |
E602G |
probably damaging |
Het |
| Syvn1 |
T |
C |
19: 6,050,093 (GRCm38) |
|
probably null |
Het |
| Tbxas1 |
A |
G |
6: 39,023,080 (GRCm38) |
D267G |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,328,523 (GRCm38) |
N787D |
probably damaging |
Het |
| Vmn2r22 |
T |
G |
6: 123,638,092 (GRCm38) |
S180R |
probably damaging |
Het |
| Zfp345 |
T |
A |
2: 150,474,543 (GRCm38) |
E48D |
possibly damaging |
Het |
| Zfp608 |
G |
A |
18: 54,897,437 (GRCm38) |
Q1144* |
probably null |
Het |
| Zfp936 |
T |
A |
7: 43,187,267 (GRCm38) |
L34Q |
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 |
|
IGL01606:Reps1
|
APN |
10 |
18,107,687 (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 |
|
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 |
2015-04-16 |
Incidental Mutation