Incidental Mutation 'R2161:Reps1'
| ID |
235163 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Reps1
|
| Ensembl Gene |
ENSMUSG00000019854 |
| Gene Name |
RalBP1 associated Eps domain containing protein |
| Synonyms |
|
| MMRRC Submission |
040164-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.480)
|
| Stock # |
R2161 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
17931609-18000903 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17972031 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 361
(E361G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126390]
[ENSMUST00000154718]
[ENSMUST00000155284]
[ENSMUST00000164556]
[ENSMUST00000216413]
|
| AlphaFold |
O54916 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126390
AA Change: E361G
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123238
Gene: ENSMUSG00000019854
AA Change: E361G
| 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: E347G
|
| SMART Domains |
Protein: ENSMUSP00000119651
Gene: ENSMUSG00000019854
AA Change: E347G
| 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: E361G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119358
Gene: ENSMUSG00000019854
AA Change: E361G
| 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 |
unknown
Transcript: ENSMUST00000155892
AA Change: E69G
|
| SMART Domains |
Protein: ENSMUSP00000117431
Gene: ENSMUSG00000019854
AA Change: E69G
| 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: E181G
|
| SMART Domains |
Protein: ENSMUSP00000114387
Gene: ENSMUSG00000019854
AA Change: E181G
| 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: E361G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130501
Gene: ENSMUSG00000019854
AA Change: E361G
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
A |
G |
15: 11,215,821 (GRCm39) |
M281V |
probably damaging |
Het |
| Ap1g1 |
A |
T |
8: 110,570,986 (GRCm39) |
D423V |
probably damaging |
Het |
| Arel1 |
A |
G |
12: 84,968,030 (GRCm39) |
|
probably null |
Het |
| Arhgap33 |
T |
C |
7: 30,228,075 (GRCm39) |
|
probably null |
Het |
| Arhgef18 |
T |
G |
8: 3,489,575 (GRCm39) |
Y302* |
probably null |
Het |
| Blm |
T |
C |
7: 80,131,118 (GRCm39) |
|
probably null |
Het |
| Cep295 |
T |
G |
9: 15,264,354 (GRCm39) |
E97D |
probably damaging |
Het |
| Cep295nl |
T |
C |
11: 118,223,335 (GRCm39) |
D503G |
possibly damaging |
Het |
| Chchd2 |
G |
T |
5: 129,912,989 (GRCm39) |
A29E |
probably damaging |
Het |
| Cic |
A |
G |
7: 24,987,559 (GRCm39) |
|
probably null |
Het |
| Cmtr1 |
C |
T |
17: 29,921,147 (GRCm39) |
L798F |
probably benign |
Het |
| Col11a2 |
C |
A |
17: 34,283,771 (GRCm39) |
|
probably benign |
Het |
| Crispld2 |
A |
G |
8: 120,742,078 (GRCm39) |
Y142C |
probably damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Dsp |
G |
A |
13: 38,380,427 (GRCm39) |
D1792N |
probably damaging |
Het |
| Esp4 |
C |
A |
17: 40,913,284 (GRCm39) |
N50K |
probably benign |
Het |
| Fbxo21 |
T |
C |
5: 118,133,451 (GRCm39) |
S404P |
probably damaging |
Het |
| Ggnbp2 |
A |
G |
11: 84,725,259 (GRCm39) |
F639L |
probably benign |
Het |
| Golph3l |
G |
A |
3: 95,524,436 (GRCm39) |
G229D |
probably damaging |
Het |
| Hlx |
G |
T |
1: 184,459,838 (GRCm39) |
S433R |
probably benign |
Het |
| Kdm2b |
T |
A |
5: 123,018,762 (GRCm39) |
S233C |
probably damaging |
Het |
| Krt14 |
C |
T |
11: 100,097,939 (GRCm39) |
G115R |
unknown |
Het |
| Ldb3 |
A |
G |
14: 34,289,353 (GRCm39) |
|
probably null |
Het |
| Lrp1 |
T |
A |
10: 127,391,607 (GRCm39) |
E2937D |
probably damaging |
Het |
| Mark2 |
G |
C |
19: 7,260,112 (GRCm39) |
S111C |
probably damaging |
Het |
| Naa20 |
T |
A |
2: 145,753,715 (GRCm39) |
|
probably null |
Het |
| Ndufa8 |
A |
T |
2: 35,926,527 (GRCm39) |
W170R |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,328,041 (GRCm39) |
L671I |
probably damaging |
Het |
| Or52e19b |
T |
A |
7: 103,032,407 (GRCm39) |
R267S |
probably benign |
Het |
| Or5b108 |
T |
A |
19: 13,168,673 (GRCm39) |
I214K |
probably damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Ptpro |
A |
G |
6: 137,426,885 (GRCm39) |
D280G |
probably benign |
Het |
| Rgs6 |
A |
G |
12: 83,138,578 (GRCm39) |
E304G |
probably damaging |
Het |
| Siglece |
T |
C |
7: 43,308,793 (GRCm39) |
T187A |
probably benign |
Het |
| Slc5a10 |
C |
T |
11: 61,610,760 (GRCm39) |
G5R |
probably null |
Het |
| Sohlh1 |
A |
G |
2: 25,734,648 (GRCm39) |
I215T |
probably benign |
Het |
| Stag1 |
T |
A |
9: 100,771,648 (GRCm39) |
V691D |
probably damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Tmed8 |
A |
G |
12: 87,221,031 (GRCm39) |
V185A |
probably damaging |
Het |
| Trim71 |
A |
G |
9: 114,341,840 (GRCm39) |
F814S |
probably damaging |
Het |
| Trmt9b |
T |
C |
8: 36,972,804 (GRCm39) |
C85R |
probably damaging |
Het |
| Tsnax |
A |
T |
8: 125,742,428 (GRCm39) |
K52N |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,682,292 (GRCm39) |
T676A |
probably benign |
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 |
|
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 |
|
|
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'- CTCAGATGCCTGTCACACAG -3'
(R):5'- TTAGCCCAACAACAAATCTGTG -3'
Sequencing Primer
(F):5'- GTTACACCTCTTTGCACATGTG -3'
(R):5'- GAAGCCTGTCCAGTCTAGAATTTGC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation