Incidental Mutation 'R4115:Reps1'
| ID |
314597 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Reps1
|
| Ensembl Gene |
ENSMUSG00000019854 |
| Gene Name |
RalBP1 associated Eps domain containing protein |
| Synonyms |
|
| MMRRC Submission |
041630-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.480)
|
| Stock # |
R4115 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
17931609-18000903 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 17979955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 397
(P397S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126390]
[ENSMUST00000154718]
[ENSMUST00000155284]
[ENSMUST00000164556]
|
| AlphaFold |
O54916 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126390
AA Change: P397S
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000123238
Gene: ENSMUSG00000019854
AA Change: P397S
| 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: P383S
|
| SMART Domains |
Protein: ENSMUSP00000119651
Gene: ENSMUSG00000019854
AA Change: P383S
| 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 |
possibly damaging
Transcript: ENSMUST00000154718
AA Change: P397S
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000119358
Gene: ENSMUSG00000019854
AA Change: P397S
| 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: P105S
|
| SMART Domains |
Protein: ENSMUSP00000117431
Gene: ENSMUSG00000019854
AA Change: P105S
| 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 |
possibly damaging
Transcript: ENSMUST00000164556
AA Change: P397S
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130501
Gene: ENSMUSG00000019854
AA Change: P397S
| 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: ENSMUST00000216576
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.3%
- 20x: 95.3%
|
| 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 |
|---|
| Ankrd34c |
A |
G |
9: 89,611,927 (GRCm39) |
L138P |
probably damaging |
Het |
| Aplp2 |
C |
T |
9: 31,069,122 (GRCm39) |
R569Q |
probably benign |
Het |
| BC035044 |
C |
T |
6: 128,867,813 (GRCm39) |
|
probably benign |
Het |
| Camta2 |
T |
C |
11: 70,567,300 (GRCm39) |
M626V |
possibly damaging |
Het |
| Cdh20 |
G |
A |
1: 110,066,039 (GRCm39) |
R771Q |
probably benign |
Het |
| Chd3 |
T |
G |
11: 69,248,343 (GRCm39) |
I850L |
possibly damaging |
Het |
| Cspg4 |
T |
A |
9: 56,805,678 (GRCm39) |
L2163Q |
probably damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,165,003 (GRCm39) |
D328G |
possibly damaging |
Het |
| Dcun1d3 |
T |
C |
7: 119,458,957 (GRCm39) |
N26S |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,354,272 (GRCm39) |
Y391* |
probably null |
Het |
| Gnl3 |
T |
G |
14: 30,738,813 (GRCm39) |
K79Q |
probably damaging |
Het |
| Hat1 |
A |
G |
2: 71,271,566 (GRCm39) |
T380A |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,815,506 (GRCm39) |
L1527* |
probably null |
Het |
| Ighv11-1 |
A |
G |
12: 113,945,685 (GRCm39) |
V56A |
probably benign |
Het |
| Ism2 |
A |
G |
12: 87,333,805 (GRCm39) |
I80T |
probably benign |
Het |
| Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 92,980,260 (GRCm39) |
E823V |
probably damaging |
Het |
| Letm2 |
T |
A |
8: 26,070,343 (GRCm39) |
K432* |
probably null |
Het |
| LTO1 |
G |
A |
7: 144,473,383 (GRCm39) |
V142M |
possibly damaging |
Het |
| Mc4r |
T |
A |
18: 66,993,050 (GRCm39) |
Y21F |
probably benign |
Het |
| Morc3 |
G |
A |
16: 93,670,227 (GRCm39) |
D801N |
probably benign |
Het |
| Mycbpap |
C |
A |
11: 94,403,051 (GRCm39) |
|
probably null |
Het |
| Nfkbil1 |
A |
G |
17: 35,440,286 (GRCm39) |
M129T |
probably damaging |
Het |
| Notch3 |
C |
A |
17: 32,377,407 (GRCm39) |
C223F |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,613,109 (GRCm39) |
V606A |
possibly damaging |
Het |
| Nudcd2 |
T |
C |
11: 40,627,434 (GRCm39) |
M118T |
probably damaging |
Het |
| Or1j13 |
A |
T |
2: 36,369,797 (GRCm39) |
L115Q |
probably damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,410,783 (GRCm39) |
D1870N |
unknown |
Het |
| Pde3b |
T |
C |
7: 114,120,962 (GRCm39) |
F696L |
probably damaging |
Het |
| Pde8a |
T |
A |
7: 80,932,555 (GRCm39) |
|
probably null |
Het |
| Pgm1 |
C |
T |
4: 99,819,348 (GRCm39) |
Q191* |
probably null |
Het |
| Pramel21 |
A |
G |
4: 143,344,026 (GRCm39) |
D442G |
probably benign |
Het |
| Psg20 |
A |
G |
7: 18,419,905 (GRCm39) |
S5P |
probably damaging |
Het |
| Sec22a |
A |
G |
16: 35,139,202 (GRCm39) |
F232S |
probably damaging |
Het |
| Spata13 |
G |
T |
14: 60,929,927 (GRCm39) |
G168V |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,067,923 (GRCm39) |
W2117R |
probably damaging |
Het |
| Sptbn4 |
C |
T |
7: 27,090,995 (GRCm39) |
E1399K |
probably damaging |
Het |
| Tek |
T |
C |
4: 94,737,920 (GRCm39) |
S657P |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,667,299 (GRCm39) |
L607S |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,809,921 (GRCm39) |
W1106R |
probably damaging |
Het |
| Tssk3 |
T |
C |
4: 129,383,300 (GRCm39) |
Y124C |
probably damaging |
Het |
| Ugt2b1 |
A |
G |
5: 87,074,273 (GRCm39) |
W29R |
probably damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,148,332 (GRCm39) |
F76L |
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 |
|
|
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 |
|
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'- TTCGTGAACAGTTTGGGATCC -3'
(R):5'- CTGGACGAATCCTATGGTGTG -3'
Sequencing Primer
(F):5'- CCAAACTAACATATGTTGCTG -3'
(R):5'- ACGAATCCTATGGTGTGTGTGC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation