Incidental Mutation 'R6988:Rabep1'
| ID |
543096 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rabep1
|
| Ensembl Gene |
ENSMUSG00000020817 |
| Gene Name |
rabaptin, RAB GTPase binding effector protein 1 |
| Synonyms |
neurocrescin, RAB5 effector protein, rabaptin-5 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.717)
|
| Stock # |
R6988 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
70844778-70943105 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70934537 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 636
(K636E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136069
(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: K720E
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000075619
Gene: ENSMUSG00000020817
AA Change: K720E
| 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 |
possibly damaging
Transcript: ENSMUST00000081362
AA Change: K680E
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000080102
Gene: ENSMUSG00000020817
AA Change: K680E
| 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 |
possibly damaging
Transcript: ENSMUST00000100928
AA Change: K685E
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000098488
Gene: ENSMUSG00000020817
AA Change: K685E
| 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 |
possibly damaging
Transcript: ENSMUST00000108533
AA Change: K720E
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104173
Gene: ENSMUSG00000020817
AA Change: K720E
| 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: K636E
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000136069
Gene: ENSMUSG00000020817
AA Change: K636E
| 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: K677E
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000137267
Gene: ENSMUSG00000020817
AA Change: K677E
| 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: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
G |
4: 137,454,579 (GRCm38) |
L15W |
probably damaging |
Het |
| 4930550C14Rik |
G |
A |
9: 53,411,756 (GRCm38) |
V31I |
possibly damaging |
Het |
| 4932415D10Rik |
T |
C |
10: 82,291,899 (GRCm38) |
D1759G |
possibly damaging |
Het |
| Adgre1 |
C |
T |
17: 57,408,445 (GRCm38) |
S255F |
probably benign |
Het |
| Aff4 |
T |
G |
11: 53,398,237 (GRCm38) |
S404R |
probably damaging |
Het |
| Akr1c19 |
A |
T |
13: 4,233,758 (GRCm38) |
|
probably benign |
Het |
| Ankrd31 |
T |
A |
13: 96,878,249 (GRCm38) |
I1342K |
probably damaging |
Het |
| Arhgap5 |
T |
A |
12: 52,518,125 (GRCm38) |
D626E |
possibly damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,916,923 (GRCm38) |
V332I |
probably benign |
Het |
| AY358078 |
A |
G |
14: 51,826,187 (GRCm38) |
E430G |
probably damaging |
Het |
| B4gat1 |
T |
A |
19: 5,040,434 (GRCm38) |
I395N |
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,636,830 (GRCm38) |
I878N |
probably damaging |
Het |
| Ccdc150 |
C |
T |
1: 54,355,709 (GRCm38) |
Q745* |
probably null |
Het |
| Ccl19 |
A |
T |
4: 42,754,885 (GRCm38) |
I87N |
probably damaging |
Het |
| Ces2g |
G |
C |
8: 104,963,908 (GRCm38) |
G107A |
probably benign |
Het |
| Chpt1 |
A |
G |
10: 88,488,406 (GRCm38) |
V180A |
probably damaging |
Het |
| Col2a1 |
T |
C |
15: 98,004,454 (GRCm38) |
T14A |
unknown |
Het |
| Dnah7a |
T |
C |
1: 53,582,625 (GRCm38) |
I1114V |
possibly damaging |
Het |
| Dnah7c |
T |
C |
1: 46,666,213 (GRCm38) |
I2462T |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,643,275 (GRCm38) |
F208S |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,714,210 (GRCm38) |
E3993G |
probably damaging |
Het |
| Erv3 |
C |
T |
2: 131,855,966 (GRCm38) |
D158N |
possibly damaging |
Het |
| Exoc6 |
T |
A |
19: 37,609,091 (GRCm38) |
F647I |
probably damaging |
Het |
| Fbrs |
G |
A |
7: 127,479,508 (GRCm38) |
|
probably benign |
Het |
| Fgfr1op2 |
T |
C |
6: 146,589,965 (GRCm38) |
F109L |
probably damaging |
Het |
| Fv1 |
T |
C |
4: 147,869,271 (GRCm38) |
F98S |
possibly damaging |
Het |
| Gm436 |
A |
G |
4: 144,686,325 (GRCm38) |
F15S |
probably benign |
Het |
| H2-M10.1 |
T |
C |
17: 36,325,592 (GRCm38) |
K107E |
probably benign |
Het |
| Hspg2 |
A |
T |
4: 137,528,890 (GRCm38) |
Q1436L |
probably damaging |
Het |
| Ighv1-74 |
T |
C |
12: 115,802,763 (GRCm38) |
Y79C |
probably damaging |
Het |
| Kcnj1 |
G |
A |
9: 32,396,585 (GRCm38) |
V102I |
probably benign |
Het |
| Mnt |
C |
A |
11: 74,842,809 (GRCm38) |
|
probably benign |
Het |
| Mrpl15 |
T |
C |
1: 4,782,660 (GRCm38) |
T112A |
probably benign |
Het |
| Ncdn |
T |
C |
4: 126,747,189 (GRCm38) |
D506G |
probably benign |
Het |
| Ogdh |
C |
T |
11: 6,313,806 (GRCm38) |
R81* |
probably null |
Het |
| Olfr791 |
T |
A |
10: 129,526,673 (GRCm38) |
S149T |
probably benign |
Het |
| Olfr815 |
G |
C |
10: 129,902,409 (GRCm38) |
F100L |
probably damaging |
Het |
| Pole |
G |
T |
5: 110,329,583 (GRCm38) |
V1863F |
probably damaging |
Het |
| Pramel5 |
T |
C |
4: 144,274,007 (GRCm38) |
|
probably benign |
Het |
| Rasgrf2 |
T |
A |
13: 91,885,635 (GRCm38) |
Y1151F |
probably benign |
Het |
| Rrad |
A |
G |
8: 104,630,636 (GRCm38) |
V93A |
probably damaging |
Het |
| Sesn3 |
A |
T |
9: 14,310,257 (GRCm38) |
R118* |
probably null |
Het |
| Slc27a3 |
T |
C |
3: 90,386,290 (GRCm38) |
N596S |
probably benign |
Het |
| Snx19 |
C |
A |
9: 30,428,935 (GRCm38) |
D456E |
probably damaging |
Het |
| Supt20 |
T |
C |
3: 54,698,597 (GRCm38) |
S35P |
probably damaging |
Het |
| Syde2 |
G |
T |
3: 146,019,809 (GRCm38) |
R885L |
probably benign |
Het |
| Synm |
G |
A |
7: 67,733,658 (GRCm38) |
L1419F |
probably damaging |
Het |
| Tcrg-V6 |
G |
T |
13: 19,190,644 (GRCm38) |
G40W |
possibly damaging |
Het |
| Tekt2 |
A |
G |
4: 126,323,443 (GRCm38) |
F221L |
probably benign |
Het |
| Ticam1 |
C |
T |
17: 56,269,900 (GRCm38) |
E732K |
probably benign |
Het |
| Tmem39b |
A |
G |
4: 129,693,148 (GRCm38) |
I90T |
possibly damaging |
Het |
| Trib2 |
A |
G |
12: 15,815,338 (GRCm38) |
S79P |
probably damaging |
Het |
| Usp32 |
T |
C |
11: 85,010,143 (GRCm38) |
M1084V |
probably benign |
Het |
| Vmn1r181 |
T |
C |
7: 23,984,847 (GRCm38) |
F246L |
probably damaging |
Het |
| Wnt16 |
A |
G |
6: 22,288,511 (GRCm38) |
D2G |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,080,716 (GRCm38) |
E1357G |
probably benign |
Het |
| Zhx3 |
A |
G |
2: 160,779,868 (GRCm38) |
M793T |
probably benign |
Het |
|
| Other mutations in Rabep1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01370:Rabep1
|
APN |
11 |
70,925,781 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02022:Rabep1
|
APN |
11 |
70,934,559 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02215:Rabep1
|
APN |
11 |
70,923,197 (GRCm38) |
nonsense |
probably null |
|
|
IGL02428:Rabep1
|
APN |
11 |
70,917,480 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02566:Rabep1
|
APN |
11 |
70,917,714 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02868:Rabep1
|
APN |
11 |
70,874,746 (GRCm38) |
missense |
probably benign |
0.00 |
|
F5770:Rabep1
|
UTSW |
11 |
70,937,516 (GRCm38) |
splice site |
probably benign |
|
|
P0042:Rabep1
|
UTSW |
11 |
70,884,975 (GRCm38) |
splice site |
probably benign |
|
|
PIT4495001:Rabep1
|
UTSW |
11 |
70,917,579 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0328:Rabep1
|
UTSW |
11 |
70,919,207 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0458:Rabep1
|
UTSW |
11 |
70,886,998 (GRCm38) |
splice site |
probably null |
|
|
R0477:Rabep1
|
UTSW |
11 |
70,920,907 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0727:Rabep1
|
UTSW |
11 |
70,900,492 (GRCm38) |
nonsense |
probably null |
|
|
R1732:Rabep1
|
UTSW |
11 |
70,904,641 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1837:Rabep1
|
UTSW |
11 |
70,904,658 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2203:Rabep1
|
UTSW |
11 |
70,934,574 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4003:Rabep1
|
UTSW |
11 |
70,917,367 (GRCm38) |
missense |
probably benign |
0.12 |
|
R4229:Rabep1
|
UTSW |
11 |
70,908,434 (GRCm38) |
missense |
probably benign |
|
|
R4573:Rabep1
|
UTSW |
11 |
70,917,751 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4748:Rabep1
|
UTSW |
11 |
70,908,468 (GRCm38) |
missense |
probably benign |
0.18 |
|
R5130:Rabep1
|
UTSW |
11 |
70,904,731 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5182:Rabep1
|
UTSW |
11 |
70,904,628 (GRCm38) |
nonsense |
probably null |
|
|
R5379:Rabep1
|
UTSW |
11 |
70,908,421 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5525:Rabep1
|
UTSW |
11 |
70,923,146 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5617:Rabep1
|
UTSW |
11 |
70,917,529 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6283:Rabep1
|
UTSW |
11 |
70,917,679 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6302:Rabep1
|
UTSW |
11 |
70,935,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6730:Rabep1
|
UTSW |
11 |
70,940,386 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R7235:Rabep1
|
UTSW |
11 |
70,940,464 (GRCm38) |
missense |
probably benign |
0.43 |
|
R7241:Rabep1
|
UTSW |
11 |
70,939,989 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7453:Rabep1
|
UTSW |
11 |
70,917,660 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7955:Rabep1
|
UTSW |
11 |
70,917,441 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8175:Rabep1
|
UTSW |
11 |
70,884,929 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8314:Rabep1
|
UTSW |
11 |
70,893,660 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8461:Rabep1
|
UTSW |
11 |
70,884,855 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R8481:Rabep1
|
UTSW |
11 |
70,887,127 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8530:Rabep1
|
UTSW |
11 |
70,919,242 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8531:Rabep1
|
UTSW |
11 |
70,908,506 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9010:Rabep1
|
UTSW |
11 |
70,919,208 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9696:Rabep1
|
UTSW |
11 |
70,923,203 (GRCm38) |
missense |
probably benign |
|
|
Z1186:Rabep1
|
UTSW |
11 |
70,940,084 (GRCm38) |
frame shift |
probably null |
|
|
Z1187:Rabep1
|
UTSW |
11 |
70,940,084 (GRCm38) |
frame shift |
probably null |
|
|
Z1188:Rabep1
|
UTSW |
11 |
70,940,084 (GRCm38) |
frame shift |
probably null |
|
|
Z1189:Rabep1
|
UTSW |
11 |
70,940,084 (GRCm38) |
frame shift |
probably null |
|
|
Z1190:Rabep1
|
UTSW |
11 |
70,940,084 (GRCm38) |
frame shift |
probably null |
|
|
Z1191:Rabep1
|
UTSW |
11 |
70,940,084 (GRCm38) |
frame shift |
probably null |
|
|
Z1192:Rabep1
|
UTSW |
11 |
70,940,084 (GRCm38) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCACAAATCCAGTAACCTTGTG -3'
(R):5'- GGCTTTCACAGTGACTGCAC -3'
Sequencing Primer
(F):5'- AACCTTGTGTTTACGGAATCCAGG -3'
(R):5'- ACCGAGGACAGCTGTTCTTTTATAC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation