Incidental Mutation 'R8314:Rabep1'
ID |
641581 |
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 |
067719-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.559)
|
Stock # |
R8314 (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 70784486 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 207
(D207G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104173
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076270]
[ENSMUST00000081362]
[ENSMUST00000100928]
[ENSMUST00000108533]
[ENSMUST00000177731]
[ENSMUST00000178245]
[ENSMUST00000179114]
|
AlphaFold |
O35551 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076270
AA Change: D207G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000075619 Gene: ENSMUSG00000020817 AA Change: D207G
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 benign
Transcript: ENSMUST00000081362
|
SMART Domains |
Protein: ENSMUSP00000080102 Gene: ENSMUSG00000020817
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: D207G
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000098488 Gene: ENSMUSG00000020817 AA Change: D207G
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: D207G
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000104173 Gene: ENSMUSG00000020817 AA Change: D207G
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: D123G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000136069 Gene: ENSMUSG00000020817 AA Change: D123G
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: D164G
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000137267 Gene: ENSMUSG00000020817 AA Change: D164G
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 |
possibly damaging
Transcript: ENSMUST00000179114
AA Change: D207G
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000136369 Gene: ENSMUSG00000020817 AA Change: D207G
Domain | Start | End | E-Value | Type |
Pfam:Rabaptin
|
89 |
195 |
7.1e-48 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (67/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110059G10Rik |
T |
A |
9: 122,777,993 (GRCm39) |
T84S |
probably benign |
Het |
4930533K18Rik |
A |
G |
10: 70,711,106 (GRCm39) |
T76A |
noncoding transcript |
Het |
Adgrl1 |
C |
T |
8: 84,665,018 (GRCm39) |
T1235I |
probably damaging |
Het |
Ak4 |
C |
T |
4: 101,320,782 (GRCm39) |
T197M |
possibly damaging |
Het |
Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
Alox12e |
T |
C |
11: 70,206,998 (GRCm39) |
M603V |
possibly damaging |
Het |
Ap3d1 |
A |
T |
10: 80,559,373 (GRCm39) |
I267N |
possibly damaging |
Het |
Arhgef2 |
T |
A |
3: 88,528,600 (GRCm39) |
I12N |
probably benign |
Het |
Asnsd1 |
A |
T |
1: 53,385,814 (GRCm39) |
M520K |
probably damaging |
Het |
B3galt5 |
T |
C |
16: 96,116,649 (GRCm39) |
L94P |
probably damaging |
Het |
Birc2 |
T |
C |
9: 7,872,942 (GRCm39) |
|
probably benign |
Het |
Cd177 |
T |
C |
7: 24,450,013 (GRCm39) |
S541G |
probably benign |
Het |
Cdh8 |
T |
C |
8: 99,898,011 (GRCm39) |
D434G |
probably damaging |
Het |
Cdkn3 |
A |
T |
14: 47,007,330 (GRCm39) |
|
silent |
Het |
Ciita |
A |
T |
16: 10,328,852 (GRCm39) |
R379W |
probably damaging |
Het |
Cntrl |
T |
A |
2: 35,065,155 (GRCm39) |
M2153K |
probably benign |
Het |
Csmd1 |
A |
T |
8: 16,208,258 (GRCm39) |
D1232E |
probably benign |
Het |
Cyp4a30b |
A |
C |
4: 115,315,535 (GRCm39) |
H252P |
probably benign |
Het |
Dad1 |
G |
A |
14: 54,491,269 (GRCm39) |
R11W |
probably damaging |
Het |
Ddit3 |
A |
G |
10: 127,131,590 (GRCm39) |
|
probably null |
Het |
Dusp22 |
G |
A |
13: 30,892,914 (GRCm39) |
|
probably benign |
Het |
Dzank1 |
A |
G |
2: 144,344,878 (GRCm39) |
L293P |
probably damaging |
Het |
Edf1 |
A |
G |
2: 25,447,977 (GRCm39) |
D5G |
probably damaging |
Het |
Entrep3 |
T |
C |
3: 89,095,453 (GRCm39) |
|
probably null |
Het |
Ep400 |
T |
A |
5: 110,903,619 (GRCm39) |
M327L |
unknown |
Het |
Fam135a |
A |
T |
1: 24,061,002 (GRCm39) |
H1341Q |
possibly damaging |
Het |
Fbxl3 |
C |
T |
14: 103,326,876 (GRCm39) |
V169I |
probably benign |
Het |
Gm4787 |
A |
G |
12: 81,425,909 (GRCm39) |
L83P |
probably damaging |
Het |
Habp4 |
A |
G |
13: 64,332,565 (GRCm39) |
E392G |
probably damaging |
Het |
Hspg2 |
C |
A |
4: 137,266,986 (GRCm39) |
P1997Q |
probably benign |
Het |
Ints9 |
T |
C |
14: 65,266,479 (GRCm39) |
S444P |
probably damaging |
Het |
Kif18b |
G |
A |
11: 102,803,900 (GRCm39) |
S420L |
probably benign |
Het |
Klhl17 |
T |
A |
4: 156,318,470 (GRCm39) |
M51L |
probably benign |
Het |
Kmt2b |
C |
T |
7: 30,278,347 (GRCm39) |
E1555K |
probably damaging |
Het |
Malrd1 |
T |
A |
2: 15,757,643 (GRCm39) |
D972E |
unknown |
Het |
Mapk8ip3 |
A |
T |
17: 25,120,748 (GRCm39) |
S805R |
probably benign |
Het |
Mmp13 |
G |
A |
9: 7,272,931 (GRCm39) |
C97Y |
probably damaging |
Het |
Moxd1 |
T |
A |
10: 24,128,438 (GRCm39) |
N163K |
possibly damaging |
Het |
Nbea |
T |
C |
3: 55,916,672 (GRCm39) |
I863V |
probably damaging |
Het |
Nectin4 |
A |
G |
1: 171,212,295 (GRCm39) |
T298A |
probably benign |
Het |
Net1 |
T |
C |
13: 3,962,672 (GRCm39) |
|
probably benign |
Het |
Ntn1 |
T |
C |
11: 68,276,450 (GRCm39) |
D166G |
probably damaging |
Het |
Opa3 |
C |
A |
7: 18,978,940 (GRCm39) |
A135E |
possibly damaging |
Het |
Or1e31 |
T |
G |
11: 73,690,568 (GRCm39) |
N5T |
noncoding transcript |
Het |
Or4c3d |
T |
C |
2: 89,882,441 (GRCm39) |
T76A |
probably benign |
Het |
Or51v14 |
T |
C |
7: 103,261,254 (GRCm39) |
Q102R |
probably damaging |
Het |
Or5w14 |
A |
G |
2: 87,541,546 (GRCm39) |
F235L |
probably benign |
Het |
Or8g30 |
A |
G |
9: 39,230,601 (GRCm39) |
F103S |
probably damaging |
Het |
Osbpl5 |
T |
C |
7: 143,248,833 (GRCm39) |
I608V |
probably benign |
Het |
Phc1 |
A |
C |
6: 122,297,937 (GRCm39) |
S782R |
unknown |
Het |
Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
Pip5k1b |
T |
A |
19: 24,332,563 (GRCm39) |
T374S |
probably benign |
Het |
Prkaa1 |
A |
G |
15: 5,208,354 (GRCm39) |
S541G |
probably damaging |
Het |
Ptpn20 |
A |
G |
14: 33,344,504 (GRCm39) |
N143D |
possibly damaging |
Het |
Rbbp8 |
G |
A |
18: 11,853,682 (GRCm39) |
M296I |
probably benign |
Het |
Recql4 |
C |
A |
15: 76,594,380 (GRCm39) |
R46L |
probably damaging |
Het |
Scgb2b18 |
T |
C |
7: 32,872,582 (GRCm39) |
I74M |
probably benign |
Het |
Shc4 |
A |
G |
2: 125,497,536 (GRCm39) |
I391T |
possibly damaging |
Het |
Slc38a4 |
A |
G |
15: 96,908,190 (GRCm39) |
F184L |
probably benign |
Het |
Slc7a6 |
A |
G |
8: 106,895,590 (GRCm39) |
|
probably benign |
Het |
Smim13 |
G |
T |
13: 41,426,110 (GRCm39) |
G49* |
probably null |
Het |
Tbc1d19 |
A |
G |
5: 54,054,389 (GRCm39) |
D459G |
probably damaging |
Het |
Tnpo1 |
T |
C |
13: 99,021,133 (GRCm39) |
N82S |
possibly damaging |
Het |
Tpp2 |
G |
A |
1: 43,973,387 (GRCm39) |
V47I |
probably benign |
Het |
Umodl1 |
G |
T |
17: 31,203,806 (GRCm39) |
A540S |
probably damaging |
Het |
Vmn2r83 |
G |
A |
10: 79,317,313 (GRCm39) |
V519I |
possibly damaging |
Het |
Zfp641 |
T |
C |
15: 98,188,464 (GRCm39) |
I139V |
probably damaging |
Het |
Zfyve21 |
A |
T |
12: 111,789,715 (GRCm39) |
I60F |
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 |
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'- TTTTAGCAAATAGGTAGACCAGGG -3'
(R):5'- CATGAATAAGCATCATCACTGAGAG -3'
Sequencing Primer
(F):5'- ACCAGGGTTTCTTAGAAAAGCC -3'
(R):5'- CTGAGAGTTTAAATAACCAAAGGCC -3'
|
Posted On |
2020-07-28 |