Incidental Mutation 'IGL01937:Reps1'
| ID |
279169 |
| 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 # |
IGL01937
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
17931609-18000903 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17969584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 229
(N229S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126390]
[ENSMUST00000154718]
[ENSMUST00000155284]
[ENSMUST00000164556]
[ENSMUST00000216413]
|
| AlphaFold |
O54916 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126390
AA Change: N229S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123238
Gene: ENSMUSG00000019854
AA Change: N229S
| 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 |
unknown
Transcript: ENSMUST00000150029
AA Change: N215S
|
| SMART Domains |
Protein: ENSMUSP00000119651
Gene: ENSMUSG00000019854
AA Change: N215S
| 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
AA Change: N229S
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000119358
Gene: ENSMUSG00000019854
AA Change: N229S
| 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 |
unknown
Transcript: ENSMUST00000155959
AA Change: N70S
|
| SMART Domains |
Protein: ENSMUSP00000114387
Gene: ENSMUSG00000019854
AA Change: N70S
| 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
AA Change: N229S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000130501
Gene: ENSMUSG00000019854
AA Change: N229S
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
C |
11: 109,974,130 (GRCm39) |
|
probably benign |
Het |
| Abcb11 |
G |
T |
2: 69,117,956 (GRCm39) |
P474H |
probably damaging |
Het |
| Actn1 |
T |
C |
12: 80,218,537 (GRCm39) |
N749S |
probably benign |
Het |
| Atf7ip2 |
T |
A |
16: 10,059,401 (GRCm39) |
|
probably null |
Het |
| Brinp3 |
A |
T |
1: 146,776,878 (GRCm39) |
T442S |
probably benign |
Het |
| Cdh20 |
A |
G |
1: 110,065,826 (GRCm39) |
N700S |
probably benign |
Het |
| Cntn4 |
T |
A |
6: 106,414,865 (GRCm39) |
V132E |
probably damaging |
Het |
| Dlc1 |
G |
T |
8: 37,317,345 (GRCm39) |
S443R |
probably benign |
Het |
| Evi2b |
T |
A |
11: 79,406,893 (GRCm39) |
K227N |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gstm3 |
T |
C |
3: 107,874,973 (GRCm39) |
E93G |
probably damaging |
Het |
| Hemgn |
T |
C |
4: 46,396,057 (GRCm39) |
Y393C |
probably damaging |
Het |
| Hepacam2 |
T |
A |
6: 3,487,117 (GRCm39) |
Y4F |
probably benign |
Het |
| Hipk1 |
T |
C |
3: 103,651,320 (GRCm39) |
I1148V |
possibly damaging |
Het |
| Katnip |
A |
G |
7: 125,453,777 (GRCm39) |
T1165A |
probably benign |
Het |
| Kl |
A |
T |
5: 150,912,402 (GRCm39) |
D717V |
probably damaging |
Het |
| Mmp14 |
T |
C |
14: 54,675,053 (GRCm39) |
|
probably benign |
Het |
| Nlrp1b |
T |
G |
11: 71,072,233 (GRCm39) |
T537P |
probably damaging |
Het |
| Or5k3 |
T |
C |
16: 58,969,827 (GRCm39) |
S205P |
probably benign |
Het |
| Or8k33 |
A |
G |
2: 86,383,793 (GRCm39) |
V225A |
probably benign |
Het |
| Pcnx3 |
A |
G |
19: 5,727,691 (GRCm39) |
V1031A |
probably benign |
Het |
| Plk2 |
A |
G |
13: 110,535,588 (GRCm39) |
D470G |
possibly damaging |
Het |
| Ppa1 |
G |
A |
10: 61,501,215 (GRCm39) |
V161M |
probably benign |
Het |
| Prrc2a |
A |
C |
17: 35,374,567 (GRCm39) |
I1361S |
possibly damaging |
Het |
| Psmd6 |
A |
T |
14: 14,116,169 (GRCm38) |
S140T |
probably benign |
Het |
| Ptprm |
A |
G |
17: 67,353,158 (GRCm39) |
|
probably benign |
Het |
| Ranbp17 |
T |
C |
11: 33,278,520 (GRCm39) |
T116A |
possibly damaging |
Het |
| Rfx3 |
A |
T |
19: 27,808,129 (GRCm39) |
Y205N |
probably damaging |
Het |
| Robo1 |
A |
T |
16: 72,759,114 (GRCm39) |
I376F |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,805,249 (GRCm39) |
I872F |
probably damaging |
Het |
| Selenop |
C |
T |
15: 3,308,750 (GRCm39) |
T234M |
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,823,439 (GRCm39) |
Y707H |
probably damaging |
Het |
| Strap |
A |
G |
6: 137,718,333 (GRCm39) |
I146V |
probably benign |
Het |
| Tcim |
A |
T |
8: 24,928,892 (GRCm39) |
H7Q |
probably benign |
Het |
| Thada |
G |
T |
17: 84,530,194 (GRCm39) |
T1725N |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r84 |
A |
G |
10: 130,221,755 (GRCm39) |
C822R |
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 |
|
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 |
|
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