Incidental Mutation 'IGL03336:Ribc2'
| ID |
417033 |
| 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 # |
IGL03336
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
85016279-85028771 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 85017114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 51
(Q51*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023067]
[ENSMUST00000023068]
[ENSMUST00000229238]
|
| AlphaFold |
Q9D4Q1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023067
AA Change: Q51*
|
| SMART Domains |
Protein: ENSMUSP00000023067
Gene: ENSMUSG00000022431
AA Change: Q51*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RIB43A
|
3 |
377 |
9.7e-147 |
PFAM |
|
| Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000229238
AA Change: Q51*
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
A |
G |
15: 59,888,251 (GRCm39) |
V63A |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,618,582 (GRCm39) |
S1757P |
probably benign |
Het |
| Atp8a1 |
G |
T |
5: 67,887,150 (GRCm39) |
Y629* |
probably null |
Het |
| Cenpf |
T |
C |
1: 189,384,844 (GRCm39) |
K2479E |
probably damaging |
Het |
| Clip1 |
G |
T |
5: 123,791,633 (GRCm39) |
S179* |
probably null |
Het |
| Cmya5 |
A |
G |
13: 93,230,013 (GRCm39) |
S1692P |
possibly damaging |
Het |
| Cyp17a1 |
T |
C |
19: 46,659,474 (GRCm39) |
S119G |
probably benign |
Het |
| Fndc5 |
T |
C |
4: 129,033,711 (GRCm39) |
F160L |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,418,100 (GRCm39) |
V3682A |
probably damaging |
Het |
| Myh8 |
G |
T |
11: 67,175,528 (GRCm39) |
D328Y |
probably damaging |
Het |
| Or10a5 |
T |
A |
7: 106,635,542 (GRCm39) |
M60K |
probably damaging |
Het |
| Or4c121 |
T |
C |
2: 89,024,241 (GRCm39) |
T46A |
probably benign |
Het |
| Or51f1 |
C |
T |
7: 102,505,823 (GRCm39) |
C222Y |
probably benign |
Het |
| Or51k2 |
T |
C |
7: 103,596,616 (GRCm39) |
L281P |
probably damaging |
Het |
| Or6c203 |
T |
C |
10: 129,010,098 (GRCm39) |
E264G |
probably benign |
Het |
| Paxbp1 |
T |
C |
16: 90,831,060 (GRCm39) |
I439V |
probably benign |
Het |
| Pcdhb3 |
T |
C |
18: 37,436,014 (GRCm39) |
V660A |
possibly damaging |
Het |
| Pcyt2 |
T |
C |
11: 120,506,758 (GRCm39) |
D32G |
probably damaging |
Het |
| Pdzph1 |
A |
T |
17: 59,281,229 (GRCm39) |
V351D |
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,519,088 (GRCm39) |
E438G |
probably damaging |
Het |
| Slc18a3 |
T |
C |
14: 32,184,785 (GRCm39) |
|
probably benign |
Het |
| Slc5a1 |
G |
A |
5: 33,304,287 (GRCm39) |
V296I |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,560,928 (GRCm39) |
T958S |
probably damaging |
Het |
| Spag8 |
C |
T |
4: 43,652,114 (GRCm39) |
|
probably benign |
Het |
| Susd3 |
A |
C |
13: 49,392,258 (GRCm39) |
S144R |
probably benign |
Het |
| Synpo2 |
T |
C |
3: 122,907,828 (GRCm39) |
E496G |
possibly damaging |
Het |
| Tbcel |
T |
C |
9: 42,350,427 (GRCm39) |
T269A |
probably benign |
Het |
| Tmem156 |
A |
G |
5: 65,233,107 (GRCm39) |
Y152H |
probably benign |
Het |
| Tmem247 |
A |
G |
17: 87,225,857 (GRCm39) |
E99G |
probably damaging |
Het |
| Tuba3b |
A |
G |
6: 145,565,450 (GRCm39) |
D306G |
possibly damaging |
Het |
| Vps13c |
T |
A |
9: 67,858,924 (GRCm39) |
D2791E |
possibly damaging |
Het |
| Ypel4 |
A |
G |
2: 84,567,871 (GRCm39) |
Y98C |
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 |
|
IGL02816:Ribc2
|
APN |
15 |
85,017,106 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02830:Ribc2
|
APN |
15 |
85,016,458 (GRCm39) |
utr 5 prime |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation