Incidental Mutation 'R3685:Ribc2'
| ID |
269510 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3685 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
85016279-85028771 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85019535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 106
(T106A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023067]
[ENSMUST00000023068]
[ENSMUST00000229238]
|
| AlphaFold |
Q9D4Q1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023067
AA Change: T106A
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000023067
Gene: ENSMUSG00000022431
AA Change: T106A
| 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 |
possibly damaging
Transcript: ENSMUST00000229238
AA Change: T106A
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
T |
C |
4: 132,793,013 (GRCm39) |
L1418P |
possibly damaging |
Het |
| Atp13a5 |
G |
C |
16: 29,135,573 (GRCm39) |
L340V |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,400,328 (GRCm39) |
E1014G |
possibly damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,775,223 (GRCm39) |
M343T |
possibly damaging |
Het |
| Dmrtc2 |
T |
C |
7: 24,573,687 (GRCm39) |
V174A |
probably benign |
Het |
| Ggta1 |
T |
A |
2: 35,298,000 (GRCm39) |
T162S |
probably benign |
Het |
| Gm9637 |
A |
G |
14: 19,401,950 (GRCm38) |
|
noncoding transcript |
Het |
| Gpbp1 |
T |
C |
13: 111,603,405 (GRCm39) |
T15A |
probably benign |
Het |
| Itih5 |
A |
T |
2: 10,243,435 (GRCm39) |
N391Y |
possibly damaging |
Het |
| Klhl40 |
A |
G |
9: 121,611,724 (GRCm39) |
E579G |
probably damaging |
Het |
| Or4a73 |
C |
A |
2: 89,421,099 (GRCm39) |
R120L |
probably damaging |
Het |
| Or4c118 |
A |
T |
2: 88,975,364 (GRCm39) |
M1K |
probably null |
Het |
| Or5d37 |
T |
A |
2: 87,923,603 (GRCm39) |
I226F |
probably damaging |
Het |
| Prr16 |
C |
A |
18: 51,435,892 (GRCm39) |
P124T |
probably damaging |
Het |
| Slc37a1 |
C |
A |
17: 31,544,667 (GRCm39) |
T253N |
probably benign |
Het |
| Smpd1 |
T |
A |
7: 105,204,609 (GRCm39) |
C163S |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,226,800 (GRCm39) |
S1162G |
probably benign |
Het |
| Tenm2 |
C |
A |
11: 35,942,644 (GRCm39) |
V1342L |
probably benign |
Het |
| Trim34a |
T |
C |
7: 103,909,333 (GRCm39) |
|
probably null |
Het |
| Zfand6 |
G |
A |
7: 84,283,570 (GRCm39) |
P11S |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTGATCTCTGCTCCTTTAATG -3'
(R):5'- GCAGAAACCATTCTCTGCTCTG -3'
Sequencing Primer
(F):5'- AATGGTTACAGTTTTTGGGACCTCC -3'
(R):5'- AACCATTCTCTGCTCTGTTCCTTTTG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation