Incidental Mutation 'R5127:Reps1'
| ID |
394823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Reps1
|
| Ensembl Gene |
ENSMUSG00000019854 |
| Gene Name |
RalBP1 associated Eps domain containing protein |
| Synonyms |
|
| MMRRC Submission |
042715-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.480)
|
| Stock # |
R5127 (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 17969628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 244
(T244A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126390]
[ENSMUST00000154718]
[ENSMUST00000155284]
[ENSMUST00000164556]
[ENSMUST00000216413]
|
| AlphaFold |
O54916 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126390
AA Change: T244A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123238
Gene: ENSMUSG00000019854
AA Change: T244A
| 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: T230A
|
| SMART Domains |
Protein: ENSMUSP00000119651
Gene: ENSMUSG00000019854
AA Change: T230A
| 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: T244A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119358
Gene: ENSMUSG00000019854
AA Change: T244A
| 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 benign
Transcript: ENSMUST00000164556
AA Change: T244A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130501
Gene: ENSMUSG00000019854
AA Change: T244A
| 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
|
| Meta Mutation Damage Score |
0.0579 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
93% (42/45) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,902,826 (GRCm39) |
K497E |
probably damaging |
Het |
| 4933413J09Rik |
A |
G |
14: 26,097,462 (GRCm39) |
|
noncoding transcript |
Het |
| Aox1 |
A |
T |
1: 58,069,185 (GRCm39) |
I4F |
probably benign |
Het |
| Arhgef5 |
A |
T |
6: 43,250,148 (GRCm39) |
N300Y |
probably damaging |
Het |
| B530045E10Rik |
A |
G |
10: 99,257,983 (GRCm39) |
|
noncoding transcript |
Het |
| Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
| Cdh20 |
A |
G |
1: 104,875,073 (GRCm39) |
E285G |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,722,249 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
A |
G |
1: 90,696,067 (GRCm39) |
C2667R |
unknown |
Het |
| Cts8 |
C |
T |
13: 61,401,149 (GRCm39) |
V126M |
probably damaging |
Het |
| Dag1 |
A |
T |
9: 108,084,771 (GRCm39) |
I790N |
possibly damaging |
Het |
| Ddit4 |
A |
G |
10: 59,786,491 (GRCm39) |
I186T |
probably damaging |
Het |
| Dnajc11 |
T |
A |
4: 152,054,271 (GRCm39) |
|
probably benign |
Het |
| Farsa |
A |
G |
8: 85,595,593 (GRCm39) |
D495G |
probably benign |
Het |
| Gm1527 |
T |
A |
3: 28,957,567 (GRCm39) |
I157N |
probably damaging |
Het |
| Gm5773 |
T |
A |
3: 93,680,735 (GRCm39) |
W136R |
probably benign |
Het |
| Hpse |
C |
A |
5: 100,867,403 (GRCm39) |
A20S |
unknown |
Het |
| Igfn1 |
A |
G |
1: 135,887,634 (GRCm39) |
Y2477H |
probably damaging |
Het |
| Kcnh5 |
A |
G |
12: 74,944,858 (GRCm39) |
V797A |
probably benign |
Het |
| Kptn |
T |
A |
7: 15,859,710 (GRCm39) |
C311* |
probably null |
Het |
| Lpcat2 |
A |
T |
8: 93,635,819 (GRCm39) |
N407I |
possibly damaging |
Het |
| Lrp1 |
T |
A |
10: 127,375,503 (GRCm39) |
|
probably benign |
Het |
| Ovol2 |
C |
T |
2: 144,159,780 (GRCm39) |
C120Y |
probably damaging |
Het |
| Pcdhac2 |
G |
T |
18: 37,277,352 (GRCm39) |
E111* |
probably null |
Het |
| Pknox1 |
C |
T |
17: 31,809,713 (GRCm39) |
P106S |
probably benign |
Het |
| Plet1 |
C |
T |
9: 50,415,595 (GRCm39) |
T155I |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,671,621 (GRCm39) |
K444R |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,525,415 (GRCm39) |
I397N |
unknown |
Het |
| Ranbp1 |
A |
G |
16: 18,065,151 (GRCm39) |
|
probably null |
Het |
| Raver2 |
T |
C |
4: 100,960,182 (GRCm39) |
C221R |
probably damaging |
Het |
| Slc22a16 |
G |
A |
10: 40,449,953 (GRCm39) |
V130I |
probably benign |
Het |
| Stmnd1 |
G |
A |
13: 46,453,071 (GRCm39) |
S249N |
probably benign |
Het |
| Styx |
A |
G |
14: 45,610,961 (GRCm39) |
|
probably null |
Het |
| Sult1b1 |
T |
G |
5: 87,669,407 (GRCm39) |
N147T |
probably damaging |
Het |
| Tbc1d2 |
G |
A |
4: 46,633,639 (GRCm39) |
|
probably benign |
Het |
| Tm4sf1 |
T |
G |
3: 57,200,289 (GRCm39) |
I109L |
possibly damaging |
Het |
| Ufl1 |
T |
C |
4: 25,256,010 (GRCm39) |
E423G |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,840,654 (GRCm39) |
I66V |
probably benign |
Het |
| Wfdc10 |
C |
T |
2: 164,499,060 (GRCm39) |
Q57* |
probably null |
Het |
| Zeb1os1 |
T |
C |
18: 5,567,390 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp369 |
A |
T |
13: 65,426,847 (GRCm39) |
|
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 |
|
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 |
|
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'- TACATGTCAGTGCACTGCAATCG -3'
(R):5'- ATAGTAGAACATTCCGCGGG -3'
Sequencing Primer
(F):5'- AGTCAGTATGCTCCTCCA -3'
(R):5'- TCCGCGGGTAACAGACGTTTAG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation