Incidental Mutation 'P4717OSA:Bbof1'
| ID |
44002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bbof1
|
| Ensembl Gene |
ENSMUSG00000057265 |
| Gene Name |
basal body orientation factor 1 |
| Synonyms |
2900006K08Rik, Ccdc176 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
P4717OSA (G1)
of strain
634
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
12 |
| Chromosomal Location |
84455243-84488279 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 84473734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 355
(A355T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080512
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081828]
[ENSMUST00000085192]
[ENSMUST00000151789]
[ENSMUST00000153540]
|
| AlphaFold |
Q3V079 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081828
AA Change: A355T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080512
Gene: ENSMUSG00000057265
AA Change: A355T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
29 |
N/A |
INTRINSIC |
|
Pfam:DUF4515
|
83 |
276 |
1.8e-44 |
PFAM |
|
coiled coil region
|
277 |
308 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085192
|
| SMART Domains |
Protein: ENSMUSP00000082288
Gene: ENSMUSG00000021238
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
36 |
N/A |
INTRINSIC |
|
Pfam:Aldedh
|
48 |
512 |
1.9e-139 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151789
|
| SMART Domains |
Protein: ENSMUSP00000115708
Gene: ENSMUSG00000057265
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4515
|
1 |
138 |
6.7e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153540
|
| SMART Domains |
Protein: ENSMUSP00000114625
Gene: ENSMUSG00000057265
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4515
|
1 |
105 |
3.9e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221969
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222641
|
| Meta Mutation Damage Score |
0.3766 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
100% (27/27) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
A |
T |
11: 3,888,178 (GRCm39) |
|
probably null |
Het |
| Acsm5 |
A |
T |
7: 119,131,195 (GRCm39) |
E204D |
probably benign |
Het |
| Ahi1 |
G |
C |
10: 20,848,009 (GRCm39) |
R472S |
probably damaging |
Het |
| Capn10 |
G |
T |
1: 92,867,116 (GRCm39) |
Q115H |
probably damaging |
Het |
| Clec4n |
A |
C |
6: 123,221,499 (GRCm39) |
Q114H |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Depdc1a |
T |
C |
3: 159,228,184 (GRCm39) |
V312A |
probably damaging |
Het |
| Gbp2 |
T |
C |
3: 142,336,357 (GRCm39) |
F236L |
possibly damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,677,317 (GRCm39) |
I527T |
probably damaging |
Het |
| Hhla1 |
A |
G |
15: 65,795,850 (GRCm39) |
L452P |
probably damaging |
Het |
| Mcoln3 |
T |
G |
3: 145,830,504 (GRCm39) |
V78G |
probably damaging |
Het |
| Mylk |
T |
A |
16: 34,797,483 (GRCm39) |
|
probably benign |
Het |
| Nxpe2 |
T |
A |
9: 48,237,677 (GRCm39) |
M193L |
probably benign |
Het |
| Olig1 |
A |
T |
16: 91,066,877 (GRCm39) |
Y38F |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,386,895 (GRCm39) |
V1256A |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,391,643 (GRCm39) |
I1570F |
probably damaging |
Het |
| Prss12 |
T |
C |
3: 123,241,267 (GRCm39) |
Y154H |
probably damaging |
Het |
| Rbp3 |
A |
G |
14: 33,677,456 (GRCm39) |
D468G |
probably damaging |
Het |
| Relt |
G |
A |
7: 100,496,788 (GRCm39) |
R360C |
probably damaging |
Het |
| Tmed4 |
T |
C |
11: 6,223,727 (GRCm39) |
|
probably benign |
Het |
| Trhr |
C |
A |
15: 44,060,831 (GRCm39) |
T117K |
probably damaging |
Het |
| Ube2e2 |
A |
G |
14: 18,630,297 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Bbof1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01509:Bbof1
|
APN |
12 |
84,457,859 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02572:Bbof1
|
APN |
12 |
84,475,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02933:Bbof1
|
APN |
12 |
84,473,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03099:Bbof1
|
APN |
12 |
84,473,539 (GRCm39) |
nonsense |
probably null |
|
|
R0100:Bbof1
|
UTSW |
12 |
84,457,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0100:Bbof1
|
UTSW |
12 |
84,457,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0230:Bbof1
|
UTSW |
12 |
84,471,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0511:Bbof1
|
UTSW |
12 |
84,477,045 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1506:Bbof1
|
UTSW |
12 |
84,470,273 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1920:Bbof1
|
UTSW |
12 |
84,457,859 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2097:Bbof1
|
UTSW |
12 |
84,460,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2355:Bbof1
|
UTSW |
12 |
84,470,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3935:Bbof1
|
UTSW |
12 |
84,457,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4210:Bbof1
|
UTSW |
12 |
84,455,957 (GRCm39) |
start codon destroyed |
probably null |
|
|
R4321:Bbof1
|
UTSW |
12 |
84,473,902 (GRCm39) |
nonsense |
probably null |
|
|
R5001:Bbof1
|
UTSW |
12 |
84,473,630 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5033:Bbof1
|
UTSW |
12 |
84,458,044 (GRCm39) |
splice site |
probably null |
|
|
R5244:Bbof1
|
UTSW |
12 |
84,476,847 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6169:Bbof1
|
UTSW |
12 |
84,473,588 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6295:Bbof1
|
UTSW |
12 |
84,457,942 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7073:Bbof1
|
UTSW |
12 |
84,473,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7895:Bbof1
|
UTSW |
12 |
84,466,763 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8050:Bbof1
|
UTSW |
12 |
84,457,991 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8163:Bbof1
|
UTSW |
12 |
84,473,536 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8398:Bbof1
|
UTSW |
12 |
84,475,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8796:Bbof1
|
UTSW |
12 |
84,460,068 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9352:Bbof1
|
UTSW |
12 |
84,461,394 (GRCm39) |
missense |
probably benign |
0.44 |
|
X0019:Bbof1
|
UTSW |
12 |
84,473,567 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGAACGCTCTGACCTACATGAC -3'
(R):5'- TATGGCATGAGCCACCACAACCTG -3'
Sequencing Primer
(F):5'- TGACCTACATGACCACAGAGTTTG -3'
(R):5'- AGAGATCCTGGTTCACACTATTGG -3'
|
| Posted On |
2013-05-31 |
Incidental Mutation