Incidental Mutation 'R0628:Reps1'
| ID |
57713 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Reps1
|
| Ensembl Gene |
ENSMUSG00000019854 |
| Gene Name |
RalBP1 associated Eps domain containing protein |
| Synonyms |
|
| MMRRC Submission |
038817-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.465)
|
| Stock # |
R0628 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
17931609-18000903 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17996841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 588
(T588A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126390]
[ENSMUST00000154718]
[ENSMUST00000155284]
[ENSMUST00000164556]
|
| AlphaFold |
O54916 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126390
AA Change: T615A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123238
Gene: ENSMUSG00000019854
AA Change: T615A
| 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: ENSMUST00000144287
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000150029
AA Change: T574A
|
| SMART Domains |
Protein: ENSMUSP00000119651
Gene: ENSMUSG00000019854
AA Change: T574A
| 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 |
noncoding transcript
Transcript: ENSMUST00000150533
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154718
AA Change: T525A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000119358
Gene: ENSMUSG00000019854
AA Change: T525A
| 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 benign
Transcript: ENSMUST00000155892
|
| SMART Domains |
Protein: ENSMUSP00000117431
Gene: ENSMUSG00000019854
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
2 |
82 |
9.44e-21 |
SMART |
|
low complexity region
|
99 |
115 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164556
AA Change: T588A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130501
Gene: ENSMUSG00000019854
AA Change: T588A
| 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 |
|
| Meta Mutation Damage Score |
0.1329 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.6%
|
| Validation Efficiency |
98% (58/59) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
A |
C |
18: 65,440,367 (GRCm39) |
V809G |
possibly damaging |
Het |
| Bank1 |
T |
A |
3: 135,772,151 (GRCm39) |
D493V |
probably damaging |
Het |
| Camk2d |
T |
C |
3: 126,604,273 (GRCm39) |
|
probably benign |
Het |
| Ccdc17 |
T |
A |
4: 116,455,745 (GRCm39) |
L292H |
probably damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,837,498 (GRCm39) |
|
probably benign |
Het |
| Cd34 |
C |
A |
1: 194,641,525 (GRCm39) |
T317K |
probably damaging |
Het |
| Col6a5 |
C |
G |
9: 105,789,649 (GRCm39) |
|
probably null |
Het |
| Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
| Copa |
T |
C |
1: 171,918,592 (GRCm39) |
|
probably benign |
Het |
| Coq7 |
T |
C |
7: 118,128,867 (GRCm39) |
D56G |
probably damaging |
Het |
| Dlg4 |
C |
T |
11: 69,922,610 (GRCm39) |
T201I |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,536,264 (GRCm39) |
D2593V |
probably benign |
Het |
| Ect2l |
T |
A |
10: 18,018,788 (GRCm39) |
E536V |
probably damaging |
Het |
| Emilin3 |
A |
G |
2: 160,752,799 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
T |
C |
7: 18,935,479 (GRCm39) |
|
probably benign |
Het |
| Fam135b |
C |
T |
15: 71,320,505 (GRCm39) |
|
probably benign |
Het |
| Fhip2b |
T |
C |
14: 70,825,161 (GRCm39) |
T392A |
possibly damaging |
Het |
| Gart |
C |
T |
16: 91,430,790 (GRCm39) |
R424H |
probably benign |
Het |
| Gramd1a |
A |
G |
7: 30,842,049 (GRCm39) |
L80P |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,358,163 (GRCm39) |
K2415E |
probably benign |
Het |
| Ica1 |
C |
T |
6: 8,644,256 (GRCm39) |
|
probably benign |
Het |
| Idi2l |
T |
A |
13: 8,990,958 (GRCm39) |
|
probably benign |
Het |
| Iyd |
A |
T |
10: 3,497,127 (GRCm39) |
M161L |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,392,200 (GRCm39) |
L974S |
probably damaging |
Het |
| Kif1a |
T |
C |
1: 92,947,605 (GRCm39) |
D1619G |
probably damaging |
Het |
| Lypd8 |
C |
T |
11: 58,275,499 (GRCm39) |
T78M |
probably damaging |
Het |
| Marchf10 |
T |
A |
11: 105,280,986 (GRCm39) |
H433L |
probably benign |
Het |
| Mbp |
A |
G |
18: 82,572,742 (GRCm39) |
Y13C |
probably damaging |
Het |
| Mertk |
A |
T |
2: 128,580,233 (GRCm39) |
N229I |
probably damaging |
Het |
| Msrb2 |
T |
A |
2: 19,398,091 (GRCm39) |
D116E |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Otoa |
G |
A |
7: 120,744,873 (GRCm39) |
|
probably benign |
Het |
| Pclo |
A |
G |
5: 14,719,552 (GRCm39) |
T1230A |
unknown |
Het |
| Polrmt |
T |
C |
10: 79,574,979 (GRCm39) |
T851A |
possibly damaging |
Het |
| Prpf6 |
C |
T |
2: 181,277,841 (GRCm39) |
P401L |
probably damaging |
Het |
| Rasgrp4 |
A |
G |
7: 28,839,635 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
A |
T |
2: 37,272,064 (GRCm39) |
|
probably benign |
Het |
| Rtel1 |
A |
C |
2: 180,993,674 (GRCm39) |
S782R |
probably benign |
Het |
| Sacm1l |
A |
G |
9: 123,378,060 (GRCm39) |
|
probably benign |
Het |
| Skic3 |
G |
C |
13: 76,298,848 (GRCm39) |
V1185L |
possibly damaging |
Het |
| Skint5 |
A |
T |
4: 113,588,266 (GRCm39) |
L728* |
probably null |
Het |
| Slc9b2 |
T |
A |
3: 135,029,536 (GRCm39) |
|
probably benign |
Het |
| Snapc3 |
A |
T |
4: 83,368,397 (GRCm39) |
H298L |
probably benign |
Het |
| Tex9 |
A |
T |
9: 72,399,233 (GRCm39) |
M1K |
probably null |
Het |
| Trappc13 |
C |
T |
13: 104,291,424 (GRCm39) |
|
probably benign |
Het |
| Usp3 |
C |
T |
9: 66,425,726 (GRCm39) |
R467H |
probably benign |
Het |
| Vmn2r11 |
T |
A |
5: 109,195,597 (GRCm39) |
L576F |
possibly damaging |
Het |
| Wnk4 |
T |
C |
11: 101,165,849 (GRCm39) |
F792S |
probably benign |
Het |
| Zfp1007 |
T |
C |
5: 109,826,442 (GRCm39) |
|
probably null |
Het |
| Zfp280d |
T |
C |
9: 72,269,230 (GRCm39) |
V764A |
probably benign |
Het |
| Zfp69 |
G |
A |
4: 120,806,622 (GRCm39) |
Q4* |
probably null |
Het |
| Zfp692 |
T |
G |
11: 58,200,449 (GRCm39) |
L206R |
probably damaging |
Het |
| Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
probably benign |
Het |
| Zic4 |
T |
A |
9: 91,266,170 (GRCm39) |
Y264* |
probably null |
Het |
| Zic4 |
T |
A |
9: 91,266,172 (GRCm39) |
M272K |
probably benign |
Het |
| Zscan4b |
A |
T |
7: 10,635,390 (GRCm39) |
N284K |
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 |
|
IGL02335:Reps1
|
APN |
10 |
17,931,865 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATAGCAGCCTGGCAGCTTAC -3'
(R):5'- ACTGCATATGGGAGGAGACTGTCAC -3'
Sequencing Primer
(F):5'- AAGCCATTCTGTGGCACTG -3'
(R):5'- GGAGACTGTCACAAATTAGCTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation