Incidental Mutation 'IGL00578:Rimoc1'
| ID |
5855 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rimoc1
|
| Ensembl Gene |
ENSMUSG00000041935 |
| Gene Name |
RAB7A interacting MON1-CCZ1 complex subunit 1 |
| Synonyms |
AW549877 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00578
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
4011517-4025226 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 4018118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 186
(G186C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046633]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046633
AA Change: G186C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038476
Gene: ENSMUSG00000041935
AA Change: G186C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
131 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228184
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228421
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp1 |
A |
G |
11: 5,821,787 (GRCm39) |
T729A |
possibly damaging |
Het |
| Ank3 |
C |
A |
10: 69,838,224 (GRCm39) |
S864Y |
possibly damaging |
Het |
| Ankrd44 |
G |
A |
1: 54,701,806 (GRCm39) |
|
probably benign |
Het |
| Atp11c |
C |
T |
X: 59,286,177 (GRCm39) |
G996R |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,987,755 (GRCm39) |
T250A |
possibly damaging |
Het |
| Cox8a |
T |
A |
19: 7,192,770 (GRCm39) |
Y65F |
probably damaging |
Het |
| Ctnnd1 |
G |
T |
2: 84,439,969 (GRCm39) |
N451K |
probably damaging |
Het |
| D630045J12Rik |
T |
C |
6: 38,171,865 (GRCm39) |
T768A |
probably benign |
Het |
| Esyt1 |
A |
G |
10: 128,347,612 (GRCm39) |
S999P |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,667,962 (GRCm39) |
I88T |
probably damaging |
Het |
| Kdm2b |
A |
G |
5: 123,099,630 (GRCm39) |
V103A |
probably damaging |
Het |
| Klk1b26 |
T |
C |
7: 43,666,309 (GRCm39) |
S251P |
probably benign |
Het |
| Krtap16-1 |
A |
G |
11: 99,876,121 (GRCm39) |
S428P |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,569,185 (GRCm39) |
V210I |
unknown |
Het |
| Mapk8ip3 |
A |
T |
17: 25,119,793 (GRCm39) |
D1018E |
probably damaging |
Het |
| Nxph2 |
T |
A |
2: 23,290,334 (GRCm39) |
C229S |
probably damaging |
Het |
| Prickle1 |
A |
G |
15: 93,398,662 (GRCm39) |
L722P |
probably benign |
Het |
| Rbm12 |
A |
T |
2: 155,937,961 (GRCm39) |
|
probably benign |
Het |
| Sfpq |
T |
C |
4: 126,919,700 (GRCm39) |
Y482H |
probably damaging |
Het |
| Sycp2 |
T |
C |
2: 177,992,615 (GRCm39) |
|
probably benign |
Het |
| Unc5b |
A |
G |
10: 60,602,834 (GRCm39) |
I866T |
probably damaging |
Het |
|
| Other mutations in Rimoc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01527:Rimoc1
|
APN |
15 |
4,018,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02170:Rimoc1
|
APN |
15 |
4,015,848 (GRCm39) |
missense |
probably benign |
|
|
IGL03188:Rimoc1
|
APN |
15 |
4,018,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0020:Rimoc1
|
UTSW |
15 |
4,021,350 (GRCm39) |
splice site |
probably benign |
|
|
R0020:Rimoc1
|
UTSW |
15 |
4,021,350 (GRCm39) |
splice site |
probably benign |
|
|
R0123:Rimoc1
|
UTSW |
15 |
4,015,776 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0134:Rimoc1
|
UTSW |
15 |
4,015,776 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0225:Rimoc1
|
UTSW |
15 |
4,015,776 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0631:Rimoc1
|
UTSW |
15 |
4,015,971 (GRCm39) |
splice site |
probably benign |
|
|
R1070:Rimoc1
|
UTSW |
15 |
4,015,848 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4437:Rimoc1
|
UTSW |
15 |
4,021,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6186:Rimoc1
|
UTSW |
15 |
4,015,851 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7663:Rimoc1
|
UTSW |
15 |
4,018,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8027:Rimoc1
|
UTSW |
15 |
4,015,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9293:Rimoc1
|
UTSW |
15 |
4,021,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation