Incidental Mutation 'IGL02816:Ribc2'
| ID |
360812 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ribc2
|
| Ensembl Gene |
ENSMUSG00000022431 |
| Gene Name |
RIB43A domain with coiled-coils 2 |
| Synonyms |
4930579A10Rik, Trib |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
IGL02816
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
85016279-85028771 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 85017106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 48
(V48G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023067]
[ENSMUST00000023068]
[ENSMUST00000229238]
|
| AlphaFold |
Q9D4Q1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023067
AA Change: V48G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000023067
Gene: ENSMUSG00000022431
AA Change: V48G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RIB43A
|
3 |
377 |
9.7e-147 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023068
|
| SMART Domains |
Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_23
|
7 |
361 |
2e-10 |
PFAM |
|
Pfam:AAA_21
|
27 |
372 |
7.2e-9 |
PFAM |
|
low complexity region
|
422 |
437 |
N/A |
INTRINSIC |
|
SMC_hinge
|
513 |
629 |
1.5e-23 |
SMART |
|
PDB:1W1W|D
|
1046 |
1218 |
3e-42 |
PDB |
|
Blast:AAA
|
1063 |
1217 |
5e-25 |
BLAST |
|
SCOP:d1e69a_
|
1114 |
1202 |
3e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229238
AA Change: V48G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Caskin1 |
C |
A |
17: 24,721,144 (GRCm39) |
P495T |
probably benign |
Het |
| Clcn4 |
A |
G |
7: 7,298,087 (GRCm39) |
C41R |
probably damaging |
Het |
| Etfdh |
G |
A |
3: 79,530,112 (GRCm39) |
T52M |
probably damaging |
Het |
| Fam227a |
T |
C |
15: 79,510,497 (GRCm39) |
T386A |
possibly damaging |
Het |
| Gabrr3 |
T |
C |
16: 59,260,830 (GRCm39) |
|
probably benign |
Het |
| Krt25 |
G |
T |
11: 99,208,977 (GRCm39) |
D284E |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,578,263 (GRCm39) |
D130G |
probably damaging |
Het |
| Nlrp3 |
T |
A |
11: 59,446,608 (GRCm39) |
F785I |
probably benign |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Numa1 |
T |
A |
7: 101,645,307 (GRCm39) |
I311N |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,813,489 (GRCm39) |
C4010R |
probably benign |
Het |
| Prph |
A |
G |
15: 98,955,301 (GRCm39) |
M423V |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,333,052 (GRCm39) |
|
probably benign |
Het |
| Scyl1 |
A |
T |
19: 5,820,410 (GRCm39) |
N141K |
probably damaging |
Het |
| Sec23a |
T |
A |
12: 59,025,331 (GRCm39) |
M497L |
probably benign |
Het |
| Strada |
C |
T |
11: 106,055,251 (GRCm39) |
|
probably benign |
Het |
| Tas2r144 |
A |
T |
6: 42,192,539 (GRCm39) |
Y93F |
probably benign |
Het |
| Tmem94 |
T |
A |
11: 115,679,530 (GRCm39) |
|
probably null |
Het |
| Trpc3 |
A |
G |
3: 36,705,851 (GRCm39) |
F448S |
probably damaging |
Het |
| Ttc13 |
A |
G |
8: 125,439,415 (GRCm39) |
I113T |
possibly damaging |
Het |
| Ttc27 |
T |
A |
17: 75,054,769 (GRCm39) |
|
probably benign |
Het |
| Ttll13 |
G |
T |
7: 79,902,842 (GRCm39) |
C170F |
possibly damaging |
Het |
| Yes1 |
C |
T |
5: 32,802,451 (GRCm39) |
T122M |
probably damaging |
Het |
|
| Other mutations in Ribc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02028:Ribc2
|
APN |
15 |
85,027,536 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02830:Ribc2
|
APN |
15 |
85,016,458 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03336:Ribc2
|
APN |
15 |
85,017,114 (GRCm39) |
nonsense |
probably null |
|
|
IGL03350:Ribc2
|
APN |
15 |
85,019,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0583:Ribc2
|
UTSW |
15 |
85,017,115 (GRCm39) |
splice site |
probably null |
|
|
R3685:Ribc2
|
UTSW |
15 |
85,019,535 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3943:Ribc2
|
UTSW |
15 |
85,019,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3944:Ribc2
|
UTSW |
15 |
85,019,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4758:Ribc2
|
UTSW |
15 |
85,025,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7234:Ribc2
|
UTSW |
15 |
85,019,733 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7472:Ribc2
|
UTSW |
15 |
85,019,446 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7567:Ribc2
|
UTSW |
15 |
85,027,448 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7653:Ribc2
|
UTSW |
15 |
85,025,876 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8370:Ribc2
|
UTSW |
15 |
85,027,489 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8443:Ribc2
|
UTSW |
15 |
85,019,461 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8971:Ribc2
|
UTSW |
15 |
85,016,337 (GRCm39) |
start gained |
probably benign |
|
|
R9072:Ribc2
|
UTSW |
15 |
85,022,163 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9073:Ribc2
|
UTSW |
15 |
85,022,163 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9760:Ribc2
|
UTSW |
15 |
85,027,568 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Posted On |
2015-12-18 |
Incidental Mutation