Incidental Mutation 'R2285:Cibar2'
| ID |
243279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cibar2
|
| Ensembl Gene |
ENSMUSG00000042269 |
| Gene Name |
CBY1 interacting BAR domain containing 2 |
| Synonyms |
1700120B06Rik, Fam92b |
| MMRRC Submission |
040284-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.837)
|
| Stock # |
R2285 (G1)
|
| Quality Score |
201 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
120893136-120904205 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120895276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 209
(N209D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034281]
[ENSMUST00000048786]
[ENSMUST00000108951]
[ENSMUST00000127664]
[ENSMUST00000135567]
|
| AlphaFold |
Q3V2J0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034281
|
| SMART Domains |
Protein: ENSMUSP00000034281
Gene: ENSMUSG00000031824
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048786
AA Change: N209D
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000038825
Gene: ENSMUSG00000042269
AA Change: N209D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM92
|
1 |
217 |
4.8e-66 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108951
|
| SMART Domains |
Protein: ENSMUSP00000104579
Gene: ENSMUSG00000031824
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135567
|
| SMART Domains |
Protein: ENSMUSP00000134033
Gene: ENSMUSG00000042269
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM92
|
1 |
95 |
2e-21 |
PFAM |
|
low complexity region
|
98 |
108 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153177
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212268
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,087,037 (GRCm39) |
Y532H |
probably damaging |
Het |
| Bbs9 |
T |
G |
9: 22,590,230 (GRCm39) |
L656W |
probably damaging |
Het |
| Clu |
T |
C |
14: 66,218,408 (GRCm39) |
S423P |
probably benign |
Het |
| Cnpy4 |
A |
G |
5: 138,191,087 (GRCm39) |
|
probably null |
Het |
| Col28a1 |
A |
T |
6: 8,097,078 (GRCm39) |
V440E |
probably damaging |
Het |
| Colgalt2 |
A |
G |
1: 152,344,301 (GRCm39) |
N121S |
probably benign |
Het |
| Cpa5 |
G |
T |
6: 30,615,063 (GRCm39) |
V67L |
probably benign |
Het |
| Emilin1 |
G |
A |
5: 31,075,544 (GRCm39) |
R595H |
probably damaging |
Het |
| Fat3 |
G |
T |
9: 16,287,469 (GRCm39) |
Q685K |
probably damaging |
Het |
| Gfra4 |
C |
T |
2: 130,883,651 (GRCm39) |
R34H |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,049,308 (GRCm39) |
V410M |
possibly damaging |
Het |
| Ints9 |
T |
C |
14: 65,245,446 (GRCm39) |
F235L |
possibly damaging |
Het |
| Kcnh3 |
A |
T |
15: 99,139,873 (GRCm39) |
I920F |
probably benign |
Het |
| Mipep |
T |
C |
14: 61,024,843 (GRCm39) |
S95P |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nxpe3 |
C |
T |
16: 55,686,588 (GRCm39) |
G140D |
probably damaging |
Het |
| Or6c66b |
A |
G |
10: 129,376,537 (GRCm39) |
I44V |
probably benign |
Het |
| Ppcs |
T |
A |
4: 119,276,174 (GRCm39) |
K137I |
possibly damaging |
Het |
| Tmc1 |
A |
G |
19: 20,767,163 (GRCm39) |
M731T |
probably damaging |
Het |
| Tubgcp6 |
A |
T |
15: 89,006,677 (GRCm39) |
V115D |
probably damaging |
Het |
| Usp54 |
G |
A |
14: 20,611,246 (GRCm39) |
T1190I |
possibly damaging |
Het |
| Zfp51 |
T |
A |
17: 21,684,137 (GRCm39) |
F251I |
probably damaging |
Het |
|
| Other mutations in Cibar2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00965:Cibar2
|
APN |
8 |
120,893,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02045:Cibar2
|
APN |
8 |
120,896,461 (GRCm39) |
nonsense |
probably null |
|
|
IGL02437:Cibar2
|
APN |
8 |
120,901,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02796:Cibar2
|
UTSW |
8 |
120,904,138 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1061:Cibar2
|
UTSW |
8 |
120,896,443 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3714:Cibar2
|
UTSW |
8 |
120,901,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3831:Cibar2
|
UTSW |
8 |
120,901,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4432:Cibar2
|
UTSW |
8 |
120,901,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5431:Cibar2
|
UTSW |
8 |
120,894,042 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6280:Cibar2
|
UTSW |
8 |
120,898,858 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7026:Cibar2
|
UTSW |
8 |
120,895,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7233:Cibar2
|
UTSW |
8 |
120,898,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7278:Cibar2
|
UTSW |
8 |
120,895,342 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7334:Cibar2
|
UTSW |
8 |
120,901,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7840:Cibar2
|
UTSW |
8 |
120,893,372 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9585:Cibar2
|
UTSW |
8 |
120,901,450 (GRCm39) |
missense |
probably null |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGGTGGCTTTTATCCCCG -3'
(R):5'- TGCCTCTAGGTACAGGGCTATG -3'
Sequencing Primer
(F):5'- GCTGTTCCTCTTCAGTTCTAAGTAG -3'
(R):5'- TATGCCCCAAAACTTTAAAAGGCTGG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation