Incidental Mutation 'R0100:Bbof1'
| ID |
64135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bbof1
|
| Ensembl Gene |
ENSMUSG00000057265 |
| Gene Name |
basal body orientation factor 1 |
| Synonyms |
2900006K08Rik, Ccdc176 |
| MMRRC Submission |
038386-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R0100 (G1)
|
| Quality Score |
101 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
84455243-84488279 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84457829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 31
(D31E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080512
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081828]
[ENSMUST00000110272]
[ENSMUST00000120942]
[ENSMUST00000151789]
|
| AlphaFold |
Q3V079 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081828
AA Change: D31E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000080512
Gene: ENSMUSG00000057265
AA Change: D31E
| 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 |
probably benign
Transcript: ENSMUST00000151789
|
| SMART Domains |
Protein: ENSMUSP00000115708
Gene: ENSMUSG00000057265
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4515
|
1 |
138 |
6.7e-29 |
PFAM |
|
| Meta Mutation Damage Score |
0.0807 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
G |
4: 156,259,415 (GRCm39) |
C814R |
probably damaging |
Het |
| Ccdc51 |
C |
T |
9: 108,921,066 (GRCm39) |
Q318* |
probably null |
Het |
| Cpxm2 |
T |
A |
7: 131,656,600 (GRCm39) |
H554L |
possibly damaging |
Het |
| Dbr1 |
T |
A |
9: 99,465,722 (GRCm39) |
D433E |
probably benign |
Het |
| Ddx55 |
C |
T |
5: 124,694,845 (GRCm39) |
T91I |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,582,585 (GRCm39) |
D340G |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 30,984,109 (GRCm39) |
|
probably null |
Het |
| Dpp9 |
C |
T |
17: 56,512,854 (GRCm39) |
G118D |
possibly damaging |
Het |
| Fam81a |
C |
T |
9: 70,010,091 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
C |
3: 39,034,397 (GRCm39) |
N2683T |
probably damaging |
Het |
| Fbxo47 |
C |
T |
11: 97,759,432 (GRCm39) |
G165S |
probably damaging |
Het |
| Garre1 |
A |
G |
7: 33,953,436 (GRCm39) |
I442T |
possibly damaging |
Het |
| Gpatch2 |
C |
A |
1: 186,958,014 (GRCm39) |
A123E |
probably damaging |
Het |
| Greb1 |
T |
A |
12: 16,730,225 (GRCm39) |
Q1734L |
probably benign |
Het |
| Gtf2ird2 |
T |
C |
5: 134,245,857 (GRCm39) |
L705P |
probably damaging |
Het |
| H13 |
T |
A |
2: 152,531,783 (GRCm39) |
|
probably null |
Het |
| Hip1 |
T |
C |
5: 135,465,307 (GRCm39) |
D367G |
probably benign |
Het |
| Ift140 |
C |
T |
17: 25,309,928 (GRCm39) |
Q1112* |
probably null |
Het |
| Il17b |
A |
G |
18: 61,823,342 (GRCm39) |
M59V |
probably benign |
Het |
| Lpin3 |
T |
C |
2: 160,747,260 (GRCm39) |
Y829H |
probably damaging |
Het |
| Mocs3 |
C |
T |
2: 168,073,110 (GRCm39) |
R186C |
probably damaging |
Het |
| Or10al5 |
T |
C |
17: 38,063,594 (GRCm39) |
F283S |
probably benign |
Het |
| Or2bd2 |
C |
T |
7: 6,443,399 (GRCm39) |
R167C |
probably damaging |
Het |
| Or4c120 |
T |
A |
2: 89,001,431 (GRCm39) |
I42F |
probably benign |
Het |
| Or5be3 |
T |
C |
2: 86,863,939 (GRCm39) |
T209A |
probably benign |
Het |
| Osgepl1 |
A |
G |
1: 53,362,372 (GRCm39) |
I405V |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,091,105 (GRCm39) |
S360P |
probably benign |
Het |
| Plekhs1 |
A |
G |
19: 56,466,934 (GRCm39) |
E255G |
probably damaging |
Het |
| Tex22 |
T |
A |
12: 113,052,392 (GRCm39) |
I150N |
probably benign |
Het |
| Tmem106a |
T |
C |
11: 101,477,084 (GRCm39) |
S98P |
probably benign |
Het |
| Tnfrsf18 |
A |
G |
4: 156,112,823 (GRCm39) |
T170A |
probably benign |
Het |
| Trpc6 |
C |
T |
9: 8,653,035 (GRCm39) |
P614S |
probably damaging |
Het |
| Usp28 |
C |
A |
9: 48,947,232 (GRCm39) |
P566Q |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,215,947 (GRCm39) |
F811L |
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 |
|
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'- TTCTCCTCTTGAGGAAGAAGCACCA -3'
(R):5'- CACAGAGGGAAGTTGTGATGTTCAGT -3'
Sequencing Primer
(F):5'- GGAAGAAGCACCAATTTAAGTCTC -3'
(R):5'- GCTTCTTCAAGTAGCTTAATACAGAC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation