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 non essential
(E-score: 0.480)
|
| Stock # |
IGL02335
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
17931609-18000903 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 17931865 bp (GRCm39)
|
| 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 |
|---|
| A4gnt |
C |
T |
9: 99,502,266 (GRCm39) |
T142I |
probably benign |
Het |
| Aadacl2fm2 |
G |
A |
3: 59,651,026 (GRCm39) |
M49I |
probably benign |
Het |
| Acaca |
A |
G |
11: 84,105,084 (GRCm39) |
T147A |
possibly damaging |
Het |
| Agbl3 |
A |
G |
6: 34,776,685 (GRCm39) |
D397G |
probably damaging |
Het |
| Ank1 |
C |
T |
8: 23,625,654 (GRCm39) |
T1597M |
possibly damaging |
Het |
| Arl4d |
A |
G |
11: 101,557,755 (GRCm39) |
T94A |
possibly damaging |
Het |
| Cd22 |
A |
G |
7: 30,575,559 (GRCm39) |
I161T |
probably damaging |
Het |
| Clcn7 |
C |
T |
17: 25,365,821 (GRCm39) |
L166F |
probably benign |
Het |
| Cnbd1 |
G |
T |
4: 19,055,095 (GRCm39) |
N110K |
possibly damaging |
Het |
| Col14a1 |
A |
T |
15: 55,327,165 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,661,300 (GRCm39) |
V270M |
probably damaging |
Het |
| Cox8b |
C |
A |
7: 140,478,990 (GRCm39) |
G42W |
probably damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,828,704 (GRCm39) |
D275V |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,432,645 (GRCm39) |
|
probably null |
Het |
| Dctn2 |
T |
C |
10: 127,111,690 (GRCm39) |
|
probably benign |
Het |
| Dnm1l |
A |
G |
16: 16,160,604 (GRCm39) |
|
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,164,988 (GRCm39) |
E687G |
probably benign |
Het |
| Fbxw20 |
T |
C |
9: 109,052,377 (GRCm39) |
K249E |
possibly damaging |
Het |
| Fhl2 |
C |
T |
1: 43,167,550 (GRCm39) |
W181* |
probably null |
Het |
| G2e3 |
T |
A |
12: 51,415,941 (GRCm39) |
M559K |
probably benign |
Het |
| Gdap1l1 |
A |
T |
2: 163,289,515 (GRCm39) |
Y160F |
possibly damaging |
Het |
| Gm1110 |
T |
C |
9: 26,793,059 (GRCm39) |
I572M |
probably benign |
Het |
| Gpatch2l |
T |
A |
12: 86,303,711 (GRCm39) |
|
probably benign |
Het |
| Kcnq4 |
A |
G |
4: 120,573,051 (GRCm39) |
L250P |
probably damaging |
Het |
| Lamc2 |
A |
T |
1: 153,041,962 (GRCm39) |
N57K |
probably benign |
Het |
| Lingo1 |
A |
G |
9: 56,527,365 (GRCm39) |
L408P |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,954,131 (GRCm39) |
N804I |
possibly damaging |
Het |
| Mroh7 |
A |
G |
4: 106,564,979 (GRCm39) |
L545S |
probably damaging |
Het |
| Nup188 |
T |
A |
2: 30,213,648 (GRCm39) |
|
probably null |
Het |
| Or10q1 |
A |
G |
19: 13,727,298 (GRCm39) |
D276G |
probably benign |
Het |
| Or11a4 |
A |
G |
17: 37,536,217 (GRCm39) |
N67S |
probably damaging |
Het |
| Or5b94 |
T |
C |
19: 12,651,602 (GRCm39) |
I11T |
probably damaging |
Het |
| Pls1 |
A |
T |
9: 95,666,236 (GRCm39) |
N138K |
probably benign |
Het |
| Prkch |
C |
A |
12: 73,749,286 (GRCm39) |
N345K |
probably benign |
Het |
| Rrp7a |
T |
C |
15: 83,006,892 (GRCm39) |
E15G |
probably benign |
Het |
| Scart2 |
A |
T |
7: 139,876,453 (GRCm39) |
N526Y |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,108,005 (GRCm39) |
T1557S |
possibly damaging |
Het |
| Smtn |
T |
C |
11: 3,476,215 (GRCm39) |
E602G |
probably damaging |
Het |
| Syvn1 |
T |
C |
19: 6,100,123 (GRCm39) |
|
probably null |
Het |
| Tbxas1 |
A |
G |
6: 39,000,014 (GRCm39) |
D267G |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,205,722 (GRCm39) |
N787D |
probably damaging |
Het |
| Vmn2r22 |
T |
G |
6: 123,615,051 (GRCm39) |
S180R |
probably damaging |
Het |
| Zfp345 |
T |
A |
2: 150,316,463 (GRCm39) |
E48D |
possibly damaging |
Het |
| Zfp608 |
G |
A |
18: 55,030,509 (GRCm39) |
Q1144* |
probably null |
Het |
| Zfp936 |
T |
A |
7: 42,836,691 (GRCm39) |
L34Q |
probably damaging |
Het |
|
| Other mutations in Reps1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01019:Reps1
|
APN |
10 |
18,000,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01161:Reps1
|
APN |
10 |
17,969,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01606:Reps1
|
APN |
10 |
17,983,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01937:Reps1
|
APN |
10 |
17,969,584 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01945:Reps1
|
APN |
10 |
17,969,584 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02208:Reps1
|
APN |
10 |
17,994,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02706:Reps1
|
APN |
10 |
17,998,763 (GRCm39) |
splice site |
probably benign |
|
|
IGL02747:Reps1
|
APN |
10 |
17,999,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0554:Reps1
|
UTSW |
10 |
17,998,867 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0628:Reps1
|
UTSW |
10 |
17,996,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1074:Reps1
|
UTSW |
10 |
17,970,194 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1710:Reps1
|
UTSW |
10 |
17,994,698 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1829:Reps1
|
UTSW |
10 |
17,983,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Reps1
|
UTSW |
10 |
18,000,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2146:Reps1
|
UTSW |
10 |
17,969,061 (GRCm39) |
missense |
probably benign |
|
|
R2161:Reps1
|
UTSW |
10 |
17,972,031 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3704:Reps1
|
UTSW |
10 |
17,983,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4115:Reps1
|
UTSW |
10 |
17,979,955 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4654:Reps1
|
UTSW |
10 |
17,990,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4856:Reps1
|
UTSW |
10 |
17,999,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4910:Reps1
|
UTSW |
10 |
17,983,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5127:Reps1
|
UTSW |
10 |
17,969,628 (GRCm39) |
missense |
probably benign |
|
|
R5521:Reps1
|
UTSW |
10 |
17,979,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5707:Reps1
|
UTSW |
10 |
17,931,758 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5724:Reps1
|
UTSW |
10 |
17,990,231 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6564:Reps1
|
UTSW |
10 |
17,998,140 (GRCm39) |
splice site |
probably null |
|
|
R6996:Reps1
|
UTSW |
10 |
17,969,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7026:Reps1
|
UTSW |
10 |
17,983,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7423:Reps1
|
UTSW |
10 |
17,969,635 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8507:Reps1
|
UTSW |
10 |
17,970,218 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8703:Reps1
|
UTSW |
10 |
17,968,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Reps1
|
UTSW |
10 |
17,979,974 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Reps1
|
UTSW |
10 |
17,998,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Reps1
|
UTSW |
10 |
18,000,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Reps1
|
UTSW |
10 |
17,969,527 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2015-04-16 |
Incidental Mutation