Incidental Mutation 'R2097:Bbof1'
| ID |
230328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bbof1
|
| Ensembl Gene |
ENSMUSG00000057265 |
| Gene Name |
basal body orientation factor 1 |
| Synonyms |
2900006K08Rik, Ccdc176 |
| MMRRC Submission |
040101-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R2097 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
84455243-84488279 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 84460081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 116
(A116D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080512
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081828]
[ENSMUST00000110272]
[ENSMUST00000120942]
[ENSMUST00000151789]
[ENSMUST00000183146]
|
| AlphaFold |
Q3V079 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081828
AA Change: A116D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080512
Gene: ENSMUSG00000057265
AA Change: A116D
| 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: ENSMUST00000110272
|
| SMART Domains |
Protein: ENSMUSP00000105901
Gene: ENSMUSG00000021236
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:GDA1_CD39
|
41 |
426 |
3.5e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120942
|
| SMART Domains |
Protein: ENSMUSP00000112516
Gene: ENSMUSG00000021236
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:GDA1_CD39
|
41 |
426 |
3.5e-76 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136511
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000151789
AA Change: A15D
|
| SMART Domains |
Protein: ENSMUSP00000115708
Gene: ENSMUSG00000057265
AA Change: A15D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4515
|
1 |
138 |
6.7e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183146
|
| SMART Domains |
Protein: ENSMUSP00000138536
Gene: ENSMUSG00000098134
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
52 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
196 |
223 |
1.8e-7 |
SMART |
|
RING
|
262 |
299 |
4.05e-5 |
SMART |
|
| Meta Mutation Damage Score |
0.1606 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
C |
14: 29,709,185 (GRCm39) |
V263A |
probably damaging |
Het |
| Apol6 |
T |
A |
15: 76,931,333 (GRCm39) |
|
probably null |
Het |
| Aqp3 |
C |
T |
4: 41,098,004 (GRCm39) |
V36M |
possibly damaging |
Het |
| Bace1 |
G |
T |
9: 45,771,520 (GRCm39) |
C478F |
probably benign |
Het |
| Casq1 |
A |
T |
1: 172,037,988 (GRCm39) |
L381Q |
probably damaging |
Het |
| Ccdc138 |
T |
A |
10: 58,397,759 (GRCm39) |
L533* |
probably null |
Het |
| Cdcp3 |
A |
T |
7: 130,783,693 (GRCm39) |
R29* |
probably null |
Het |
| Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
| Cntn6 |
A |
G |
6: 104,838,910 (GRCm39) |
E988G |
probably damaging |
Het |
| Cts6 |
T |
A |
13: 61,343,259 (GRCm39) |
N321Y |
probably damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,821,084 (GRCm39) |
S1269P |
probably benign |
Het |
| Dsg4 |
C |
A |
18: 20,604,101 (GRCm39) |
P856H |
probably damaging |
Het |
| Fndc3a |
C |
A |
14: 72,811,791 (GRCm39) |
|
probably null |
Het |
| Galc |
T |
C |
12: 98,218,291 (GRCm39) |
D187G |
probably benign |
Het |
| Gfm1 |
T |
C |
3: 67,357,079 (GRCm39) |
I384T |
probably damaging |
Het |
| Hacd2 |
A |
G |
16: 34,869,090 (GRCm39) |
I92V |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,270,431 (GRCm39) |
Y1223N |
probably damaging |
Het |
| Il20ra |
T |
C |
10: 19,635,211 (GRCm39) |
I484T |
probably damaging |
Het |
| Map7 |
G |
T |
10: 20,122,362 (GRCm39) |
V143F |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,348,323 (GRCm39) |
L1893P |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 88,292,844 (GRCm39) |
N533S |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,630,638 (GRCm39) |
D2233G |
probably damaging |
Het |
| Nlrp6 |
A |
T |
7: 140,503,117 (GRCm39) |
T408S |
probably damaging |
Het |
| Notch3 |
A |
T |
17: 32,341,728 (GRCm39) |
L2008Q |
probably damaging |
Het |
| Odad4 |
T |
A |
11: 100,454,408 (GRCm39) |
F398I |
possibly damaging |
Het |
| Or52e19b |
T |
A |
7: 103,032,840 (GRCm39) |
D123V |
probably damaging |
Het |
| Or8k20 |
A |
T |
2: 86,106,383 (GRCm39) |
Y149* |
probably null |
Het |
| Pggt1b |
T |
C |
18: 46,379,695 (GRCm39) |
N296D |
probably benign |
Het |
| Pglyrp3 |
T |
A |
3: 91,935,478 (GRCm39) |
F243I |
possibly damaging |
Het |
| Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptpdc1 |
T |
A |
13: 48,746,135 (GRCm39) |
|
probably null |
Het |
| Ptprq |
T |
C |
10: 107,489,354 (GRCm39) |
T924A |
probably benign |
Het |
| Pwp2 |
C |
A |
10: 78,013,576 (GRCm39) |
|
probably benign |
Het |
| Slc7a4 |
G |
T |
16: 17,391,319 (GRCm39) |
|
probably null |
Het |
| Tmem132b |
T |
A |
5: 125,715,272 (GRCm39) |
I327K |
probably damaging |
Het |
| Trim9 |
T |
C |
12: 70,393,933 (GRCm39) |
M4V |
probably damaging |
Het |
| Tspan13 |
T |
C |
12: 36,071,829 (GRCm39) |
S128G |
probably benign |
Het |
| Zbtb20 |
A |
G |
16: 43,429,882 (GRCm39) |
D131G |
probably null |
Het |
| Zeb2 |
A |
T |
2: 44,887,168 (GRCm39) |
C615S |
probably damaging |
Het |
| Zfp777 |
C |
T |
6: 48,021,176 (GRCm39) |
D149N |
probably benign |
Het |
| Zfp990 |
A |
G |
4: 145,263,892 (GRCm39) |
K297E |
possibly damaging |
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 |
|
|
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 |
|
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'- GATTTCAGAAACTGCCAGTAGC -3'
(R):5'- AGGCCTTGTAATGAGGTCATCC -3'
Sequencing Primer
(F):5'- CAGATTAAGTGTATGAGGAAATCCC -3'
(R):5'- GTTAATGACCCAGAGATTGATCCCAG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation