Incidental Mutation 'IGL02428:Rabep1'
| ID |
292993 |
| 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 # |
IGL02428
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
70735604-70833931 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 70808306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 421
(A421T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104173
(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: A421T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000075619
Gene: ENSMUSG00000020817
AA Change: A421T
| 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: A381T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000080102
Gene: ENSMUSG00000020817
AA Change: A381T
| 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: A421T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000098488
Gene: ENSMUSG00000020817
AA Change: A421T
| 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: A421T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000104173
Gene: ENSMUSG00000020817
AA Change: A421T
| 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: A337T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000136069
Gene: ENSMUSG00000020817
AA Change: A337T
| 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: A378T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000137267
Gene: ENSMUSG00000020817
AA Change: A378T
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024G13Rik |
T |
C |
14: 32,110,205 (GRCm39) |
|
probably benign |
Het |
| AB124611 |
C |
T |
9: 21,440,221 (GRCm39) |
S69L |
possibly damaging |
Het |
| Abca6 |
G |
A |
11: 110,069,618 (GRCm39) |
A1566V |
possibly damaging |
Het |
| Ahnak |
A |
G |
19: 8,992,197 (GRCm39) |
I4494V |
possibly damaging |
Het |
| Ascc3 |
T |
A |
10: 50,721,791 (GRCm39) |
Y2081* |
probably null |
Het |
| Cdc42bpb |
T |
C |
12: 111,289,561 (GRCm39) |
T423A |
probably benign |
Het |
| Cdh6 |
T |
A |
15: 13,064,516 (GRCm39) |
I125F |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,368,609 (GRCm39) |
L1845P |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,483,385 (GRCm39) |
V208A |
possibly damaging |
Het |
| Fanci |
A |
G |
7: 79,094,264 (GRCm39) |
|
probably benign |
Het |
| Fezf2 |
T |
C |
14: 12,344,494 (GRCm38) |
E231G |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,451,484 (GRCm39) |
D1566G |
probably damaging |
Het |
| Gm11565 |
A |
G |
11: 99,805,811 (GRCm39) |
T68A |
probably benign |
Het |
| Ifng |
G |
A |
10: 118,281,159 (GRCm39) |
R154H |
probably damaging |
Het |
| Il1r1 |
G |
A |
1: 40,352,392 (GRCm39) |
E521K |
possibly damaging |
Het |
| Irf3 |
G |
T |
7: 44,648,163 (GRCm39) |
L9F |
probably damaging |
Het |
| Jade1 |
T |
G |
3: 41,568,374 (GRCm39) |
I814S |
probably benign |
Het |
| Kcnh1 |
G |
A |
1: 192,019,851 (GRCm39) |
W365* |
probably null |
Het |
| Kif16b |
T |
C |
2: 142,514,280 (GRCm39) |
T1209A |
possibly damaging |
Het |
| Mcur1 |
A |
T |
13: 43,695,203 (GRCm39) |
S324T |
probably damaging |
Het |
| Mgat2 |
C |
A |
12: 69,231,558 (GRCm39) |
A44E |
probably benign |
Het |
| Nox1 |
A |
G |
X: 133,008,583 (GRCm39) |
|
probably benign |
Het |
| Oga |
A |
T |
19: 45,753,940 (GRCm39) |
W645R |
probably damaging |
Het |
| Or52ae7 |
A |
T |
7: 103,119,590 (GRCm39) |
I115F |
probably benign |
Het |
| Or5ak23 |
A |
G |
2: 85,244,537 (GRCm39) |
S229P |
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,265,090 (GRCm39) |
I340N |
probably damaging |
Het |
| Pde11a |
T |
C |
2: 75,877,189 (GRCm39) |
E760G |
possibly damaging |
Het |
| Per3 |
C |
T |
4: 151,102,674 (GRCm39) |
|
probably null |
Het |
| Rint1 |
C |
T |
5: 23,999,450 (GRCm39) |
Q80* |
probably null |
Het |
| Rnaset2b |
G |
A |
17: 7,248,568 (GRCm39) |
|
probably null |
Het |
| Sccpdh |
T |
C |
1: 179,508,070 (GRCm39) |
Y237H |
probably benign |
Het |
| Scn10a |
T |
A |
9: 119,520,628 (GRCm39) |
T91S |
probably damaging |
Het |
| Spock1 |
A |
G |
13: 57,592,245 (GRCm39) |
|
probably benign |
Het |
| Stat1 |
A |
G |
1: 52,182,125 (GRCm39) |
|
probably benign |
Het |
| Svil |
A |
G |
18: 5,118,203 (GRCm39) |
E2212G |
probably damaging |
Het |
| Taok1 |
T |
A |
11: 77,440,103 (GRCm39) |
R635W |
probably benign |
Het |
| Vmn1r39 |
A |
G |
6: 66,781,946 (GRCm39) |
I124T |
probably benign |
Het |
| Vmn2r32 |
T |
C |
7: 7,477,283 (GRCm39) |
I369M |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation