Incidental Mutation 'R8530:Rabep1'
| ID |
659008 |
| 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 |
068500-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.559)
|
| Stock # |
R8530 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
70735604-70833931 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70810068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 500
(L500F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137267
(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: L543F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075619
Gene: ENSMUSG00000020817
AA Change: L543F
| 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: L503F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080102
Gene: ENSMUSG00000020817
AA Change: L503F
| 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 benign
Transcript: ENSMUST00000100928
|
| SMART Domains |
Protein: ENSMUSP00000098488
Gene: ENSMUSG00000020817
| 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: L543F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104173
Gene: ENSMUSG00000020817
AA Change: L543F
| 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: L459F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136069
Gene: ENSMUSG00000020817
AA Change: L459F
| 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 |
probably damaging
Transcript: ENSMUST00000178245
AA Change: L500F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137267
Gene: ENSMUSG00000020817
AA Change: L500F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
C |
3: 137,774,586 (GRCm39) |
E1258D |
probably damaging |
Het |
| 4930407I10Rik |
T |
A |
15: 81,949,587 (GRCm39) |
H1161Q |
probably damaging |
Het |
| Adam20 |
A |
G |
8: 41,249,071 (GRCm39) |
S394G |
probably damaging |
Het |
| Akr1c12 |
A |
T |
13: 4,320,160 (GRCm39) |
F310Y |
probably benign |
Het |
| Ank |
G |
A |
15: 27,544,490 (GRCm39) |
A84T |
probably benign |
Het |
| Bcas1 |
A |
T |
2: 170,229,868 (GRCm39) |
I244K |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,339,043 (GRCm39) |
|
probably null |
Het |
| Car14 |
T |
C |
3: 95,807,670 (GRCm39) |
H79R |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,295,860 (GRCm39) |
Y735H |
probably damaging |
Het |
| Cdh11 |
G |
A |
8: 103,391,387 (GRCm39) |
P283L |
probably benign |
Het |
| Cfi |
C |
T |
3: 129,644,382 (GRCm39) |
T126I |
possibly damaging |
Het |
| Col6a4 |
T |
A |
9: 105,957,704 (GRCm39) |
H40L |
probably benign |
Het |
| Dbh |
A |
G |
2: 27,058,318 (GRCm39) |
D162G |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,492,511 (GRCm39) |
K1657R |
probably damaging |
Het |
| E2f7 |
T |
A |
10: 110,614,859 (GRCm39) |
V521D |
probably benign |
Het |
| Eif3g |
A |
C |
9: 20,809,026 (GRCm39) |
S93A |
possibly damaging |
Het |
| Fa2h |
T |
C |
8: 112,082,788 (GRCm39) |
E143G |
probably benign |
Het |
| Foxc1 |
C |
A |
13: 31,991,771 (GRCm39) |
P194Q |
probably benign |
Het |
| Fyco1 |
A |
G |
9: 123,669,605 (GRCm39) |
|
probably null |
Het |
| Gabrb3 |
T |
C |
7: 57,461,819 (GRCm39) |
S256P |
probably damaging |
Het |
| Gcc1 |
C |
A |
6: 28,420,730 (GRCm39) |
D196Y |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,325,910 (GRCm39) |
D1461E |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Hps6 |
A |
T |
19: 45,991,959 (GRCm39) |
|
probably benign |
Het |
| Macc1 |
A |
T |
12: 119,409,474 (GRCm39) |
I81F |
probably damaging |
Het |
| Man2c1 |
G |
T |
9: 57,038,922 (GRCm39) |
D111Y |
probably damaging |
Het |
| Mast3 |
A |
T |
8: 71,240,877 (GRCm39) |
I240N |
possibly damaging |
Het |
| Matn1 |
A |
T |
4: 130,677,447 (GRCm39) |
K219* |
probably null |
Het |
| Nup210 |
C |
G |
6: 91,053,627 (GRCm39) |
A297P |
possibly damaging |
Het |
| Or5d43 |
A |
T |
2: 88,105,154 (GRCm39) |
L80I |
probably damaging |
Het |
| Or6d12 |
T |
A |
6: 116,493,530 (GRCm39) |
I264K |
probably damaging |
Het |
| Pcare |
T |
C |
17: 72,059,101 (GRCm39) |
Y192C |
probably damaging |
Het |
| Pcnt |
G |
A |
10: 76,256,039 (GRCm39) |
R734W |
probably damaging |
Het |
| Phactr3 |
A |
G |
2: 177,925,819 (GRCm39) |
N360D |
probably damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Potefam3a |
T |
C |
8: 20,356,984 (GRCm38) |
N242S |
probably benign |
Het |
| Qtrt2 |
C |
A |
16: 43,689,407 (GRCm39) |
G197V |
probably damaging |
Het |
| Rhof |
T |
A |
5: 123,257,581 (GRCm39) |
D183V |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,027,678 (GRCm39) |
V95A |
probably benign |
Het |
| Spata31d1b |
A |
T |
13: 59,864,964 (GRCm39) |
N704I |
unknown |
Het |
| Tas1r2 |
A |
T |
4: 139,389,460 (GRCm39) |
Y452F |
probably benign |
Het |
| Tc2n |
A |
T |
12: 101,617,444 (GRCm39) |
F325Y |
possibly damaging |
Het |
| Tiam2 |
G |
T |
17: 3,501,087 (GRCm39) |
V909L |
probably benign |
Het |
| Tlx1 |
A |
T |
19: 45,139,524 (GRCm39) |
Y57F |
probably benign |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
| Vmn2r58 |
A |
T |
7: 41,513,576 (GRCm39) |
W356R |
probably damaging |
Het |
| Wars1 |
G |
A |
12: 108,848,818 (GRCm39) |
A43V |
probably damaging |
Het |
| Wrn |
A |
T |
8: 33,770,852 (GRCm39) |
I694N |
possibly damaging |
Het |
| Zfp120 |
A |
G |
2: 149,959,168 (GRCm39) |
Y385H |
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 |
|
R7955:Rabep1
|
UTSW |
11 |
70,808,267 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
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'- CTGTGCTATGCATTGAGTAACATTGG -3'
(R):5'- AAGGTTTGCTGGCACCTCTG -3'
Sequencing Primer
(F):5'- TTGAGTAACATTGGTAAGAACGTGTG -3'
(R):5'- GGATACCCATTCCTACTGGGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation