Incidental Mutation 'R6730:Rabep1'
ID |
530029 |
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 |
044848-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.559)
|
Stock # |
R6730 (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 70831212 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 831
(Q831R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075619
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035283]
[ENSMUST00000076270]
[ENSMUST00000081362]
[ENSMUST00000100928]
[ENSMUST00000108530]
[ENSMUST00000108531]
[ENSMUST00000108533]
[ENSMUST00000177731]
[ENSMUST00000178245]
|
AlphaFold |
O35551 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035283
|
SMART Domains |
Protein: ENSMUSP00000048101 Gene: ENSMUSG00000040667
Domain | Start | End | E-Value | Type |
Pfam:Nup88
|
13 |
752 |
1.1e-306 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076270
AA Change: Q831R
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000075619 Gene: ENSMUSG00000020817 AA Change: Q831R
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: Q791R
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000080102 Gene: ENSMUSG00000020817 AA Change: Q791R
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 benign
Transcript: ENSMUST00000108530
|
SMART Domains |
Protein: ENSMUSP00000104170 Gene: ENSMUSG00000040667
Domain | Start | End | E-Value | Type |
Pfam:Nup88
|
11 |
742 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108531
|
SMART Domains |
Protein: ENSMUSP00000104171 Gene: ENSMUSG00000040667
Domain | Start | End | E-Value | Type |
Pfam:Nup88
|
11 |
747 |
N/A |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108533
AA Change: Q833R
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104173 Gene: ENSMUSG00000020817 AA Change: Q833R
Domain | Start | End | E-Value | Type |
Pfam:Rabaptin
|
9 |
495 |
2.8e-301 |
PFAM |
Pfam:Rab5-bind
|
533 |
841 |
2e-142 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177731
AA Change: Q747R
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000136069 Gene: ENSMUSG00000020817 AA Change: Q747R
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: Q788R
PolyPhen 2
Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000137267 Gene: ENSMUSG00000020817 AA Change: Q788R
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142220
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128193
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178253
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141179
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129615
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133188
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148168
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123917
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123192
|
Meta Mutation Damage Score |
0.0842 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930455H04Rik |
T |
A |
3: 116,777,124 (GRCm39) |
*59R |
probably null |
Het |
Adam10 |
G |
T |
9: 70,647,458 (GRCm39) |
|
probably null |
Het |
Adam2 |
A |
T |
14: 66,275,025 (GRCm39) |
N569K |
possibly damaging |
Het |
Adam20 |
T |
C |
8: 41,249,696 (GRCm39) |
V602A |
probably benign |
Het |
Adgrb3 |
T |
C |
1: 25,133,375 (GRCm39) |
Y1237C |
probably damaging |
Het |
Ago3 |
T |
C |
4: 126,265,338 (GRCm39) |
T318A |
probably null |
Het |
Aknad1 |
G |
A |
3: 108,659,655 (GRCm39) |
G223D |
possibly damaging |
Het |
Camkv |
T |
C |
9: 107,825,516 (GRCm39) |
S478P |
possibly damaging |
Het |
Ccl27a |
T |
A |
4: 41,773,342 (GRCm39) |
H39L |
probably damaging |
Het |
Ccser2 |
C |
A |
14: 36,601,043 (GRCm39) |
S447I |
probably damaging |
Het |
Clvs2 |
A |
G |
10: 33,404,517 (GRCm39) |
L233P |
probably damaging |
Het |
Csn1s2b |
T |
A |
5: 87,970,127 (GRCm39) |
H124Q |
probably benign |
Het |
Dnhd1 |
T |
C |
7: 105,353,082 (GRCm39) |
L2745P |
probably benign |
Het |
Dync1i2 |
T |
A |
2: 71,077,484 (GRCm39) |
F219L |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Ephb6 |
C |
T |
6: 41,594,308 (GRCm39) |
Q613* |
probably null |
Het |
Erc2 |
A |
C |
14: 27,620,524 (GRCm39) |
D50A |
possibly damaging |
Het |
Fam149a |
T |
A |
8: 45,834,211 (GRCm39) |
D196V |
probably damaging |
Het |
Ficd |
T |
C |
5: 113,876,773 (GRCm39) |
V316A |
probably damaging |
Het |
Gstm6 |
T |
A |
3: 107,850,041 (GRCm39) |
K18* |
probably null |
Het |
Ighv1-62-1 |
A |
T |
12: 115,350,512 (GRCm39) |
W52R |
probably benign |
Het |
Klhl18 |
C |
T |
9: 110,257,979 (GRCm39) |
C417Y |
probably damaging |
Het |
Ly9 |
T |
A |
1: 171,432,737 (GRCm39) |
Y92F |
probably benign |
Het |
Mettl18 |
C |
T |
1: 163,824,750 (GRCm39) |
T357I |
probably damaging |
Het |
Myoz2 |
C |
A |
3: 122,810,276 (GRCm39) |
G100C |
probably damaging |
Het |
Or10a49 |
A |
T |
7: 108,467,780 (GRCm39) |
F194I |
probably benign |
Het |
Or4k47 |
A |
G |
2: 111,452,080 (GRCm39) |
V113A |
probably damaging |
Het |
Or7h8 |
T |
C |
9: 20,123,798 (GRCm39) |
I51T |
probably benign |
Het |
Pars2 |
C |
T |
4: 106,510,628 (GRCm39) |
L128F |
probably damaging |
Het |
Pcsk6 |
G |
T |
7: 65,629,996 (GRCm39) |
R374L |
probably damaging |
Het |
Ptpn3 |
T |
C |
4: 57,270,088 (GRCm39) |
T25A |
probably benign |
Het |
Rab11fip1 |
G |
A |
8: 27,633,257 (GRCm39) |
P1150S |
probably damaging |
Het |
Rad17 |
T |
C |
13: 100,786,253 (GRCm39) |
|
probably benign |
Het |
Rxfp1 |
T |
A |
3: 79,557,898 (GRCm39) |
R527* |
probably null |
Het |
Scnn1b |
C |
T |
7: 121,502,100 (GRCm39) |
P253S |
probably damaging |
Het |
Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
Slc2a7 |
T |
C |
4: 150,242,605 (GRCm39) |
F231S |
probably damaging |
Het |
Svil |
A |
G |
18: 5,049,311 (GRCm39) |
N196S |
probably benign |
Het |
Tent5c |
T |
A |
3: 100,380,273 (GRCm39) |
N161I |
probably benign |
Het |
Urb1 |
T |
C |
16: 90,575,971 (GRCm39) |
S862G |
possibly damaging |
Het |
Usp30 |
T |
C |
5: 114,241,770 (GRCm39) |
S87P |
probably damaging |
Het |
Vmn1r177 |
T |
A |
7: 23,565,237 (GRCm39) |
H213L |
probably damaging |
Het |
Vmn2r106 |
T |
A |
17: 20,499,096 (GRCm39) |
I272L |
possibly damaging |
Het |
Vmn2r120 |
T |
A |
17: 57,832,012 (GRCm39) |
D259V |
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 |
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 |
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'- ATAGACTTGGGCCCCTTCTC -3'
(R):5'- GCTGTGACTTCTTCCGTTAAGAG -3'
Sequencing Primer
(F):5'- CAACGTATCATCAGGTTGAGTG -3'
(R):5'- AGGGAGCTGGTTAATGTC -3'
|
Posted On |
2018-08-01 |