Incidental Mutation 'R7955:Rabep1'
| ID |
649779 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rabep1
|
| Ensembl Gene |
ENSMUSG00000020817 |
| Gene Name |
rabaptin, RAB GTPase binding effector protein 1 |
| Synonyms |
rabaptin-5, RAB5 effector protein, neurocrescin |
| MMRRC Submission |
045999-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.589)
|
| Stock # |
R7955 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
70735604-70833931 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70808267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 408
(T408A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076270]
[ENSMUST00000081362]
[ENSMUST00000100928]
[ENSMUST00000108533]
[ENSMUST00000177731]
[ENSMUST00000178245]
|
| AlphaFold |
O35551 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076270
AA Change: T408A
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000075619
Gene: ENSMUSG00000020817
AA Change: T408A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rabaptin
|
89 |
195 |
8.8e-47 |
PFAM |
|
low complexity region
|
314 |
327 |
N/A |
INTRINSIC |
|
Pfam:Rabaptin
|
461 |
596 |
7.6e-39 |
PFAM |
|
Pfam:Rab5-bind
|
612 |
807 |
5.7e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081362
AA Change: T368A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000080102
Gene: ENSMUSG00000020817
AA Change: T368A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rabaptin
|
89 |
198 |
2.4e-45 |
PFAM |
|
low complexity region
|
274 |
287 |
N/A |
INTRINSIC |
|
Pfam:Rabaptin
|
421 |
556 |
7.1e-39 |
PFAM |
|
Pfam:Rab5-bind
|
572 |
767 |
5.2e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100928
AA Change: T408A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000098488
Gene: ENSMUSG00000020817
AA Change: T408A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rabaptin
|
89 |
195 |
8.3e-47 |
PFAM |
|
low complexity region
|
314 |
327 |
N/A |
INTRINSIC |
|
Pfam:Rabaptin
|
461 |
561 |
2.9e-27 |
PFAM |
|
Pfam:Rab5-bind
|
577 |
772 |
5.3e-51 |
PFAM |
|
low complexity region
|
803 |
817 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108533
AA Change: T408A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104173
Gene: ENSMUSG00000020817
AA Change: T408A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rabaptin
|
9 |
495 |
2.8e-301 |
PFAM |
|
Pfam:Rab5-bind
|
533 |
841 |
2e-142 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177731
AA Change: T324A
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136069
Gene: ENSMUSG00000020817
AA Change: T324A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rabaptin
|
5 |
111 |
6.2e-47 |
PFAM |
|
low complexity region
|
230 |
243 |
N/A |
INTRINSIC |
|
Pfam:Rabaptin
|
377 |
512 |
5.3e-39 |
PFAM |
|
Pfam:Rab5-bind
|
528 |
723 |
1.4e-50 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178245
AA Change: T365A
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137267
Gene: ENSMUSG00000020817
AA Change: T365A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rabaptin
|
46 |
152 |
8.2e-47 |
PFAM |
|
low complexity region
|
271 |
284 |
N/A |
INTRINSIC |
|
Pfam:Rabaptin
|
418 |
553 |
7e-39 |
PFAM |
|
Pfam:Rab5-bind
|
569 |
764 |
5.2e-51 |
PFAM |
|
| Meta Mutation Damage Score |
0.1188 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts10 |
T |
A |
17: 33,764,613 (GRCm39) |
V711D |
probably damaging |
Het |
| Adgrg5 |
G |
A |
8: 95,664,325 (GRCm39) |
V312M |
|
Het |
| Ankrd53 |
A |
G |
6: 83,744,845 (GRCm39) |
T352A |
probably benign |
Het |
| Ano4 |
T |
A |
10: 88,831,088 (GRCm39) |
M512L |
probably null |
Het |
| AW551984 |
A |
G |
9: 39,507,960 (GRCm39) |
F392S |
probably damaging |
Het |
| Chrna7 |
T |
G |
7: 62,753,541 (GRCm39) |
K326T |
possibly damaging |
Het |
| Cldnd2 |
G |
T |
7: 43,091,120 (GRCm39) |
L17F |
possibly damaging |
Het |
| Clvs2 |
T |
C |
10: 33,471,808 (GRCm39) |
N166D |
possibly damaging |
Het |
| Cox10 |
A |
T |
11: 63,884,750 (GRCm39) |
N218K |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,082 (GRCm39) |
R175H |
probably damaging |
Het |
| Daxx |
T |
A |
17: 34,131,229 (GRCm39) |
Y385* |
probably null |
Het |
| Dnmbp |
T |
C |
19: 43,890,762 (GRCm39) |
E335G |
probably benign |
Het |
| Erich3 |
C |
T |
3: 154,444,951 (GRCm39) |
Q376* |
probably null |
Het |
| Flot2 |
A |
G |
11: 77,949,769 (GRCm39) |
|
probably null |
Het |
| Ganc |
A |
G |
2: 120,261,181 (GRCm39) |
T289A |
probably damaging |
Het |
| Gm19668 |
G |
A |
10: 77,634,630 (GRCm39) |
T113I |
unknown |
Het |
| Gpm6a |
A |
G |
8: 55,511,840 (GRCm39) |
N238S |
probably damaging |
Het |
| Hps1 |
T |
C |
19: 42,759,221 (GRCm39) |
T124A |
probably damaging |
Het |
| Larp4b |
T |
C |
13: 9,186,816 (GRCm39) |
V48A |
probably benign |
Het |
| Magi2 |
A |
G |
5: 20,594,070 (GRCm39) |
H205R |
probably damaging |
Het |
| Map2 |
T |
A |
1: 66,452,875 (GRCm39) |
S588R |
probably damaging |
Het |
| Mocos |
A |
G |
18: 24,799,216 (GRCm39) |
D150G |
probably damaging |
Het |
| Msl2 |
A |
G |
9: 100,979,354 (GRCm39) |
D576G |
possibly damaging |
Het |
| Mybpc3 |
A |
G |
2: 90,956,401 (GRCm39) |
|
probably null |
Het |
| Myo3b |
A |
T |
2: 69,925,623 (GRCm39) |
Y58F |
probably benign |
Het |
| Ndst3 |
T |
G |
3: 123,400,586 (GRCm39) |
K440T |
probably benign |
Het |
| Ndst4 |
T |
A |
3: 125,231,831 (GRCm39) |
Y133* |
probably null |
Het |
| Nrcam |
G |
A |
12: 44,631,737 (GRCm39) |
V1097M |
probably benign |
Het |
| Or6z1 |
A |
G |
7: 6,505,078 (GRCm39) |
I49T |
possibly damaging |
Het |
| Rims1 |
A |
T |
1: 22,507,322 (GRCm39) |
D609E |
probably damaging |
Het |
| Sh2d4a |
A |
G |
8: 68,781,907 (GRCm39) |
K172E |
probably benign |
Het |
| Slc12a9 |
A |
C |
5: 137,323,808 (GRCm39) |
L369R |
probably damaging |
Het |
| Slc30a1 |
T |
C |
1: 191,639,395 (GRCm39) |
C93R |
probably damaging |
Het |
| Tex35 |
C |
T |
1: 156,927,742 (GRCm39) |
D143N |
probably damaging |
Het |
| Tgm3 |
A |
T |
2: 129,880,400 (GRCm39) |
Y402F |
probably benign |
Het |
| Tmem17 |
T |
A |
11: 22,468,490 (GRCm39) |
I143K |
possibly damaging |
Het |
| Tmprss11f |
A |
C |
5: 86,692,682 (GRCm39) |
S81A |
probably benign |
Het |
| Trp53bp1 |
G |
A |
2: 121,066,225 (GRCm39) |
P834S |
possibly damaging |
Het |
| Trpm4 |
C |
A |
7: 44,968,683 (GRCm39) |
G417W |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,831,654 (GRCm39) |
R1506S |
probably benign |
Het |
| Tspan18 |
A |
G |
2: 93,040,305 (GRCm39) |
V150A |
possibly damaging |
Het |
| Ttc39d |
T |
C |
17: 80,523,352 (GRCm39) |
F4L |
probably benign |
Het |
| Zdhhc4 |
A |
T |
5: 143,307,619 (GRCm39) |
L134H |
probably damaging |
Het |
| Zfp407 |
A |
T |
18: 84,577,416 (GRCm39) |
S1232R |
probably benign |
Het |
| Zswim2 |
A |
C |
2: 83,747,227 (GRCm39) |
F353V |
probably benign |
Het |
|
| Other mutations in Rabep1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01370:Rabep1
|
APN |
11 |
70,816,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02022:Rabep1
|
APN |
11 |
70,825,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02215:Rabep1
|
APN |
11 |
70,814,023 (GRCm39) |
nonsense |
probably null |
|
|
IGL02428:Rabep1
|
APN |
11 |
70,808,306 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02566:Rabep1
|
APN |
11 |
70,808,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02868:Rabep1
|
APN |
11 |
70,765,572 (GRCm39) |
missense |
probably benign |
0.00 |
|
F5770:Rabep1
|
UTSW |
11 |
70,828,342 (GRCm39) |
splice site |
probably benign |
|
|
P0042:Rabep1
|
UTSW |
11 |
70,775,801 (GRCm39) |
splice site |
probably benign |
|
|
PIT4495001:Rabep1
|
UTSW |
11 |
70,808,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0328:Rabep1
|
UTSW |
11 |
70,810,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0458:Rabep1
|
UTSW |
11 |
70,777,824 (GRCm39) |
splice site |
probably null |
|
|
R0477:Rabep1
|
UTSW |
11 |
70,811,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0727:Rabep1
|
UTSW |
11 |
70,791,318 (GRCm39) |
nonsense |
probably null |
|
|
R1732:Rabep1
|
UTSW |
11 |
70,795,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1837:Rabep1
|
UTSW |
11 |
70,795,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2203:Rabep1
|
UTSW |
11 |
70,825,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4003:Rabep1
|
UTSW |
11 |
70,808,193 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4229:Rabep1
|
UTSW |
11 |
70,799,260 (GRCm39) |
missense |
probably benign |
|
|
R4573:Rabep1
|
UTSW |
11 |
70,808,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4748:Rabep1
|
UTSW |
11 |
70,799,294 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5130:Rabep1
|
UTSW |
11 |
70,795,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5182:Rabep1
|
UTSW |
11 |
70,795,454 (GRCm39) |
nonsense |
probably null |
|
|
R5379:Rabep1
|
UTSW |
11 |
70,799,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5525:Rabep1
|
UTSW |
11 |
70,813,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5617:Rabep1
|
UTSW |
11 |
70,808,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6283:Rabep1
|
UTSW |
11 |
70,808,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6302:Rabep1
|
UTSW |
11 |
70,825,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6730:Rabep1
|
UTSW |
11 |
70,831,212 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6988:Rabep1
|
UTSW |
11 |
70,825,363 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7235:Rabep1
|
UTSW |
11 |
70,831,290 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7241:Rabep1
|
UTSW |
11 |
70,830,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7453:Rabep1
|
UTSW |
11 |
70,808,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8175:Rabep1
|
UTSW |
11 |
70,775,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8314:Rabep1
|
UTSW |
11 |
70,784,486 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8461:Rabep1
|
UTSW |
11 |
70,775,681 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8481:Rabep1
|
UTSW |
11 |
70,777,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8530:Rabep1
|
UTSW |
11 |
70,810,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8531:Rabep1
|
UTSW |
11 |
70,799,332 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9010:Rabep1
|
UTSW |
11 |
70,810,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9696:Rabep1
|
UTSW |
11 |
70,814,029 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Rabep1
|
UTSW |
11 |
70,830,910 (GRCm39) |
frame shift |
probably null |
|
|
Z1187:Rabep1
|
UTSW |
11 |
70,830,910 (GRCm39) |
frame shift |
probably null |
|
|
Z1188:Rabep1
|
UTSW |
11 |
70,830,910 (GRCm39) |
frame shift |
probably null |
|
|
Z1189:Rabep1
|
UTSW |
11 |
70,830,910 (GRCm39) |
frame shift |
probably null |
|
|
Z1190:Rabep1
|
UTSW |
11 |
70,830,910 (GRCm39) |
frame shift |
probably null |
|
|
Z1191:Rabep1
|
UTSW |
11 |
70,830,910 (GRCm39) |
frame shift |
probably null |
|
|
Z1192:Rabep1
|
UTSW |
11 |
70,830,910 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTAAGTGATTATATGAAGGCAG -3'
(R):5'- TCCACTTGGCATCTGCAGTG -3'
Sequencing Primer
(F):5'- ATTACATGGTGGTTCAGAGAATTATC -3'
(R):5'- ATCTGCAGTGACCCAAGGGAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation