Incidental Mutation 'IGL03099:Bbof1'
ID |
418663 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL03099
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
84455243-84488279 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 84473539 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 290
(Q290*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080512
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081828]
[ENSMUST00000085192]
[ENSMUST00000151789]
[ENSMUST00000153540]
|
AlphaFold |
Q3V079 |
Predicted Effect |
probably null
Transcript: ENSMUST00000081828
AA Change: Q290*
|
SMART Domains |
Protein: ENSMUSP00000080512 Gene: ENSMUSG00000057265 AA Change: Q290*
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akp3 |
C |
A |
1: 87,055,328 (GRCm39) |
F458L |
probably benign |
Het |
Alpi |
A |
G |
1: 87,026,353 (GRCm39) |
L546P |
unknown |
Het |
Arpc5l |
A |
G |
2: 38,903,844 (GRCm39) |
Y111C |
probably damaging |
Het |
Atp11a |
T |
C |
8: 12,877,462 (GRCm39) |
F296S |
possibly damaging |
Het |
Brinp3 |
A |
T |
1: 146,777,835 (GRCm39) |
T761S |
possibly damaging |
Het |
Cyp2j6 |
A |
T |
4: 96,424,328 (GRCm39) |
M143K |
possibly damaging |
Het |
Daw1 |
T |
C |
1: 83,157,088 (GRCm39) |
|
probably null |
Het |
Dst |
A |
G |
1: 34,314,862 (GRCm39) |
N6498D |
probably damaging |
Het |
Fbxo15 |
T |
C |
18: 84,999,338 (GRCm39) |
L380P |
possibly damaging |
Het |
Glce |
A |
T |
9: 61,967,344 (GRCm39) |
F602L |
probably benign |
Het |
Gpatch1 |
A |
G |
7: 34,996,948 (GRCm39) |
S417P |
possibly damaging |
Het |
Hjurp |
T |
C |
1: 88,194,011 (GRCm39) |
K223R |
probably benign |
Het |
Hnrnpm |
C |
T |
17: 33,888,146 (GRCm39) |
C113Y |
probably damaging |
Het |
Igkv4-71 |
T |
C |
6: 69,220,399 (GRCm39) |
M11V |
probably benign |
Het |
Insr |
G |
T |
8: 3,308,715 (GRCm39) |
T107K |
probably damaging |
Het |
Mdm4 |
G |
A |
1: 132,919,947 (GRCm39) |
T306M |
probably damaging |
Het |
Nek11 |
T |
C |
9: 105,164,852 (GRCm39) |
I425V |
probably benign |
Het |
Otop3 |
T |
A |
11: 115,230,408 (GRCm39) |
V95E |
probably damaging |
Het |
Scn3a |
G |
A |
2: 65,367,016 (GRCm39) |
A2V |
probably damaging |
Het |
Snx10 |
T |
A |
6: 51,556,840 (GRCm39) |
M41K |
possibly damaging |
Het |
Sos2 |
T |
A |
12: 69,663,133 (GRCm39) |
N588Y |
probably damaging |
Het |
Srrm3 |
C |
A |
5: 135,898,152 (GRCm39) |
|
probably benign |
Het |
Tbc1d19 |
G |
T |
5: 54,040,997 (GRCm39) |
|
probably benign |
Het |
Vmn2r68 |
T |
A |
7: 84,871,448 (GRCm39) |
K612* |
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 |
P4717OSA:Bbof1
|
UTSW |
12 |
84,473,734 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2016-08-02 |