Incidental Mutation 'IGL01161:Reps1'
ID |
53791 |
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 # |
IGL01161
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
17931609-18000903 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 17969643 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 249
(S249P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130501
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126390]
[ENSMUST00000154718]
[ENSMUST00000155284]
[ENSMUST00000164556]
[ENSMUST00000216413]
|
AlphaFold |
O54916 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126390
AA Change: S249P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000123238 Gene: ENSMUSG00000019854 AA Change: S249P
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: S235P
|
SMART Domains |
Protein: ENSMUSP00000119651 Gene: ENSMUSG00000019854 AA Change: S235P
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 damaging
Transcript: ENSMUST00000154718
AA Change: S249P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000119358 Gene: ENSMUSG00000019854 AA Change: S249P
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 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 damaging
Transcript: ENSMUST00000164556
AA Change: S249P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000130501 Gene: ENSMUSG00000019854 AA Change: S249P
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
T |
A |
2: 103,535,463 (GRCm39) |
D543E |
probably benign |
Het |
Acad9 |
A |
C |
3: 36,144,274 (GRCm39) |
N583T |
possibly damaging |
Het |
Arhgap5 |
G |
A |
12: 52,563,643 (GRCm39) |
V205M |
probably damaging |
Het |
Arid1b |
G |
A |
17: 5,392,674 (GRCm39) |
R2068Q |
probably damaging |
Het |
Bex3 |
T |
C |
X: 135,172,218 (GRCm39) |
F60S |
probably damaging |
Het |
Casd1 |
C |
T |
6: 4,619,833 (GRCm39) |
P193S |
possibly damaging |
Het |
Ceacam11 |
A |
T |
7: 17,712,435 (GRCm39) |
I295F |
possibly damaging |
Het |
Ceacam3 |
T |
A |
7: 16,885,782 (GRCm39) |
N128K |
probably benign |
Het |
Cyp1a2 |
C |
T |
9: 57,587,176 (GRCm39) |
E372K |
probably damaging |
Het |
Ddb1 |
T |
G |
19: 10,583,071 (GRCm39) |
M1R |
probably null |
Het |
Ecel1 |
T |
C |
1: 87,080,915 (GRCm39) |
D329G |
possibly damaging |
Het |
Fat2 |
T |
C |
11: 55,175,017 (GRCm39) |
N1899D |
probably benign |
Het |
Gli3 |
A |
G |
13: 15,722,983 (GRCm39) |
|
probably null |
Het |
Gm20507 |
A |
T |
17: 33,863,727 (GRCm39) |
|
probably benign |
Het |
Gml |
T |
G |
15: 74,685,688 (GRCm39) |
Y99S |
probably damaging |
Het |
Gpr119 |
G |
T |
X: 47,762,125 (GRCm39) |
|
probably benign |
Het |
Hcn1 |
T |
C |
13: 117,793,458 (GRCm39) |
Y237H |
unknown |
Het |
Hook2 |
G |
A |
8: 85,721,560 (GRCm39) |
V273I |
probably benign |
Het |
Il12rb2 |
T |
C |
6: 67,338,849 (GRCm39) |
|
probably benign |
Het |
Kdm2a |
A |
G |
19: 4,369,279 (GRCm39) |
F1112S |
probably benign |
Het |
Lpl |
A |
T |
8: 69,345,277 (GRCm39) |
K94* |
probably null |
Het |
Lrrc8a |
T |
A |
2: 30,145,822 (GRCm39) |
L212Q |
probably damaging |
Het |
Me2 |
A |
T |
18: 73,903,887 (GRCm39) |
|
probably benign |
Het |
Mmp11 |
A |
T |
10: 75,762,655 (GRCm39) |
M266K |
probably benign |
Het |
Mprip |
T |
A |
11: 59,622,399 (GRCm39) |
V162E |
possibly damaging |
Het |
Nsf |
C |
T |
11: 103,752,711 (GRCm39) |
|
probably benign |
Het |
Or56b2 |
T |
C |
7: 104,337,588 (GRCm39) |
V122A |
probably benign |
Het |
Pcif1 |
T |
A |
2: 164,727,708 (GRCm39) |
L167H |
probably damaging |
Het |
Sdf4 |
T |
A |
4: 156,093,763 (GRCm39) |
M299K |
probably benign |
Het |
Slc30a7 |
A |
G |
3: 115,747,759 (GRCm39) |
V344A |
possibly damaging |
Het |
Svep1 |
G |
A |
4: 58,146,569 (GRCm39) |
P358S |
probably damaging |
Het |
Syt9 |
G |
T |
7: 107,024,356 (GRCm39) |
R83L |
probably damaging |
Het |
Tbc1d15 |
T |
C |
10: 115,038,435 (GRCm39) |
I593V |
probably benign |
Het |
Trio |
T |
A |
15: 27,749,867 (GRCm39) |
N1134I |
probably damaging |
Het |
Trpv3 |
A |
G |
11: 73,187,544 (GRCm39) |
|
probably benign |
Het |
Ugp2 |
T |
A |
11: 21,273,273 (GRCm39) |
I449L |
possibly damaging |
Het |
Usp24 |
C |
A |
4: 106,294,041 (GRCm39) |
H2595N |
probably benign |
Het |
Vat1l |
A |
G |
8: 115,096,629 (GRCm39) |
N370S |
possibly damaging |
Het |
Wwc1 |
C |
A |
11: 35,758,103 (GRCm39) |
D748Y |
probably damaging |
Het |
Zfyve9 |
G |
A |
4: 108,538,261 (GRCm39) |
H1002Y |
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 |
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 |
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 |
2013-06-28 |