Incidental Mutation 'IGL01370:Rabep1'
| ID |
76125 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rabep1
|
| Ensembl Gene |
ENSMUSG00000020817 |
| Gene Name |
rabaptin, RAB GTPase binding effector protein 1 |
| Synonyms |
rabaptin-5, RAB5 effector protein, neurocrescin |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.559)
|
| Stock # |
IGL01370
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
70735604-70833931 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70816607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 597
(M597V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076270]
[ENSMUST00000081362]
[ENSMUST00000100928]
[ENSMUST00000108533]
[ENSMUST00000177731]
[ENSMUST00000178245]
|
| AlphaFold |
O35551 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076270
AA Change: M632V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000075619
Gene: ENSMUSG00000020817
AA Change: M632V
| 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
AA Change: M592V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000080102
Gene: ENSMUSG00000020817
AA Change: M592V
| 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
AA Change: M597V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000098488
Gene: ENSMUSG00000020817
AA Change: M597V
| 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: ENSMUST00000108533
AA Change: M632V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104173
Gene: ENSMUSG00000020817
AA Change: M632V
| 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 benign
Transcript: ENSMUST00000177731
AA Change: M548V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000136069
Gene: ENSMUSG00000020817
AA Change: M548V
| 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 benign
Transcript: ENSMUST00000178245
AA Change: M589V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000137267
Gene: ENSMUSG00000020817
AA Change: M589V
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
A |
T |
12: 88,423,503 (GRCm39) |
|
probably benign |
Het |
| Add1 |
C |
T |
5: 34,787,859 (GRCm39) |
T210I |
probably damaging |
Het |
| Ajm1 |
T |
C |
2: 25,468,969 (GRCm39) |
E314G |
possibly damaging |
Het |
| Alpk2 |
A |
T |
18: 65,483,662 (GRCm39) |
D115E |
possibly damaging |
Het |
| Ankrd36 |
C |
T |
11: 5,534,019 (GRCm39) |
T290I |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,001,904 (GRCm39) |
I1283N |
probably benign |
Het |
| Castor2 |
T |
C |
5: 134,167,111 (GRCm39) |
V323A |
probably benign |
Het |
| Ccnt2 |
T |
C |
1: 127,731,250 (GRCm39) |
F709S |
possibly damaging |
Het |
| Erc1 |
T |
C |
6: 119,801,426 (GRCm39) |
E197G |
probably damaging |
Het |
| Ftsj3 |
G |
T |
11: 106,143,145 (GRCm39) |
R390S |
possibly damaging |
Het |
| Gabrb3 |
G |
A |
7: 57,466,226 (GRCm39) |
A347T |
probably benign |
Het |
| Gde1 |
A |
G |
7: 118,288,383 (GRCm39) |
|
probably benign |
Het |
| Jhy |
A |
T |
9: 40,828,438 (GRCm39) |
N489K |
probably benign |
Het |
| Kiss1r |
A |
G |
10: 79,754,658 (GRCm39) |
T51A |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,839,193 (GRCm39) |
S772G |
possibly damaging |
Het |
| Lamb2 |
G |
T |
9: 108,364,932 (GRCm39) |
|
probably null |
Het |
| Loxl3 |
A |
G |
6: 83,026,468 (GRCm39) |
T475A |
probably damaging |
Het |
| Lpl |
A |
T |
8: 69,340,220 (GRCm39) |
S72C |
possibly damaging |
Het |
| Lrrc74a |
A |
T |
12: 86,801,204 (GRCm39) |
I352F |
probably damaging |
Het |
| Mcoln2 |
T |
C |
3: 145,887,585 (GRCm39) |
I334T |
possibly damaging |
Het |
| Mettl8 |
T |
G |
2: 70,812,383 (GRCm39) |
D49A |
probably damaging |
Het |
| Ms4a3 |
T |
A |
19: 11,610,245 (GRCm39) |
T106S |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,886,389 (GRCm39) |
|
probably null |
Het |
| Or14j2 |
T |
C |
17: 37,885,412 (GRCm39) |
I301V |
probably null |
Het |
| Or1o11 |
C |
A |
17: 37,756,605 (GRCm39) |
H64Q |
probably benign |
Het |
| Or1p1c |
G |
A |
11: 74,160,325 (GRCm39) |
V37I |
probably benign |
Het |
| Or4n4 |
G |
T |
14: 50,519,689 (GRCm39) |
T7K |
probably damaging |
Het |
| Or5b107 |
A |
T |
19: 13,142,663 (GRCm39) |
Y95F |
possibly damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,528,222 (GRCm39) |
K1333E |
probably damaging |
Het |
| Pias3 |
T |
C |
3: 96,610,891 (GRCm39) |
F364L |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,155,531 (GRCm39) |
I2438F |
probably damaging |
Het |
| Plcb3 |
A |
C |
19: 6,940,192 (GRCm39) |
V465G |
probably damaging |
Het |
| Plekho2 |
G |
T |
9: 65,465,912 (GRCm39) |
H159N |
probably damaging |
Het |
| Polr2e |
A |
G |
10: 79,872,681 (GRCm39) |
|
probably benign |
Het |
| Rab6b |
G |
T |
9: 103,041,094 (GRCm39) |
V163L |
probably benign |
Het |
| Rbm15 |
A |
G |
3: 107,238,326 (GRCm39) |
S691P |
probably damaging |
Het |
| Sec24b |
G |
A |
3: 129,801,253 (GRCm39) |
|
probably benign |
Het |
| Slc6a18 |
A |
G |
13: 73,815,150 (GRCm39) |
I386T |
probably damaging |
Het |
| Stxbp3 |
A |
C |
3: 108,704,741 (GRCm39) |
Y497* |
probably null |
Het |
| Styk1 |
T |
C |
6: 131,278,615 (GRCm39) |
K353R |
probably damaging |
Het |
| Tbc1d10b |
A |
T |
7: 126,798,253 (GRCm39) |
H629Q |
probably damaging |
Het |
| Tbc1d5 |
T |
A |
17: 51,273,755 (GRCm39) |
I119F |
probably benign |
Het |
| Tcp11l1 |
G |
T |
2: 104,536,831 (GRCm39) |
D11E |
probably benign |
Het |
| Tfap2d |
A |
G |
1: 19,175,009 (GRCm39) |
Y154C |
probably damaging |
Het |
| Tgm5 |
T |
C |
2: 120,884,018 (GRCm39) |
N325S |
probably benign |
Het |
| Thbs2 |
T |
C |
17: 14,910,327 (GRCm39) |
K91E |
possibly damaging |
Het |
| Vmn2r26 |
T |
A |
6: 124,038,715 (GRCm39) |
F763L |
probably benign |
Het |
| Washc4 |
A |
G |
10: 83,394,694 (GRCm39) |
E308G |
probably damaging |
Het |
| Xpot |
C |
A |
10: 121,440,399 (GRCm39) |
A611S |
probably benign |
Het |
|
| Other mutations in Rabep1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation