Incidental Mutation 'R5525:Rabep1'
| ID |
431821 |
| 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 |
| MMRRC Submission |
043083-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.717)
|
| Stock # |
R5525 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
70844778-70943105 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 70923146 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 554
(S554T)
|
| 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: S597T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075619
Gene: ENSMUSG00000020817
AA Change: S597T
| 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: S557T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080102
Gene: ENSMUSG00000020817
AA Change: S557T
| 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: S562T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098488
Gene: ENSMUSG00000020817
AA Change: S562T
| 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: S597T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104173
Gene: ENSMUSG00000020817
AA Change: S597T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rabaptin
|
9 |
495 |
2.8e-301 |
PFAM |
|
Pfam:Rab5-bind
|
533 |
841 |
2e-142 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142220
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177731
AA Change: S513T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136069
Gene: ENSMUSG00000020817
AA Change: S513T
| 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: S554T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137267
Gene: ENSMUSG00000020817
AA Change: S554T
| 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: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 79,099,983 (GRCm38) |
T1501A |
probably benign |
Het |
| Acin1 |
G |
A |
14: 54,664,391 (GRCm38) |
A648V |
possibly damaging |
Het |
| Agap1 |
A |
G |
1: 89,743,773 (GRCm38) |
T401A |
possibly damaging |
Het |
| Anapc4 |
T |
G |
5: 52,856,809 (GRCm38) |
M440R |
probably damaging |
Het |
| Ankrd26 |
A |
G |
6: 118,527,731 (GRCm38) |
M739T |
probably benign |
Het |
| Brip1 |
T |
C |
11: 86,110,447 (GRCm38) |
E721G |
possibly damaging |
Het |
| Bzw1 |
A |
G |
1: 58,402,906 (GRCm38) |
E221G |
possibly damaging |
Het |
| Cenpm |
A |
C |
15: 82,239,291 (GRCm38) |
|
probably null |
Het |
| Exosc1 |
T |
A |
19: 41,924,018 (GRCm38) |
K143N |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 92,066,247 (GRCm38) |
L1236Q |
probably damaging |
Het |
| Gemin6 |
T |
G |
17: 80,227,749 (GRCm38) |
V46G |
probably damaging |
Het |
| Grm3 |
C |
T |
5: 9,504,872 (GRCm38) |
V807I |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,924,111 (GRCm38) |
N1110S |
probably benign |
Het |
| Magi1 |
A |
T |
6: 93,792,373 (GRCm38) |
V17D |
possibly damaging |
Het |
| Mdn1 |
T |
G |
4: 32,767,961 (GRCm38) |
M5298R |
possibly damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,384,501 (GRCm38) |
E551V |
probably damaging |
Het |
| Oacyl |
A |
C |
18: 65,745,356 (GRCm38) |
I457L |
probably benign |
Het |
| Or12d13 |
C |
T |
17: 37,336,626 (GRCm38) |
G202D |
probably damaging |
Het |
| Or5p69 |
A |
G |
7: 108,367,999 (GRCm38) |
I170V |
probably benign |
Het |
| Or5t17 |
A |
T |
2: 87,002,339 (GRCm38) |
E123D |
possibly damaging |
Het |
| Rab11fip3 |
T |
C |
17: 25,991,295 (GRCm38) |
E996G |
probably damaging |
Het |
| Rln1 |
T |
C |
19: 29,334,520 (GRCm38) |
E26G |
probably benign |
Het |
| Rpf1 |
A |
G |
3: 146,517,804 (GRCm38) |
|
silent |
Het |
| Sdk1 |
T |
C |
5: 142,185,265 (GRCm38) |
V1961A |
possibly damaging |
Het |
| Serpinb8 |
A |
T |
1: 107,607,293 (GRCm38) |
I365F |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 144,070,109 (GRCm38) |
D277G |
probably damaging |
Het |
| Snapc4 |
ACTGCTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGC |
2: 26,369,526 (GRCm38) |
|
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,332,007 (GRCm38) |
T1269A |
possibly damaging |
Het |
| Ttll3 |
A |
G |
6: 113,412,978 (GRCm38) |
N776D |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,606,614 (GRCm38) |
E1483G |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,753,606 (GRCm38) |
D2971G |
probably benign |
Het |
| Zfp322a |
A |
G |
13: 23,357,515 (GRCm38) |
V19A |
probably benign |
Het |
| Zfp462 |
C |
A |
4: 55,050,281 (GRCm38) |
P2164T |
possibly damaging |
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 |
|
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 |
|
R6988:Rabep1
|
UTSW |
11 |
70,934,537 (GRCm38) |
missense |
probably damaging |
0.96 |
|
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'- GCTAATGCCCTGGTGTACTG -3'
(R):5'- GCGTCTGGACAGTATTCACC -3'
Sequencing Primer
(F):5'- CTAATGCCCTGGTGTACTGGAAAG -3'
(R):5'- TCCAGCAGAAGTCACGTTCAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation