Incidental Mutation 'R2355:Bbof1'
| ID |
246888 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bbof1
|
| Ensembl Gene |
ENSMUSG00000057265 |
| Gene Name |
basal body orientation factor 1 |
| Synonyms |
2900006K08Rik, Ccdc176 |
| MMRRC Submission |
040337-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R2355 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
84455243-84488279 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84470223 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 33
(E33G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114625
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081828]
[ENSMUST00000151789]
[ENSMUST00000153540]
[ENSMUST00000183146]
|
| AlphaFold |
Q3V079 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081828
AA Change: E204G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080512
Gene: ENSMUSG00000057265
AA Change: E204G
| 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 damaging
Transcript: ENSMUST00000151789
AA Change: E103G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115708
Gene: ENSMUSG00000057265
AA Change: E103G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4515
|
1 |
138 |
6.7e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153540
AA Change: E33G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114625
Gene: ENSMUSG00000057265
AA Change: E33G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4515
|
1 |
105 |
3.9e-19 |
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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
CGG |
CG |
5: 124,215,368 (GRCm39) |
|
probably null |
Het |
| Ahcyl1 |
A |
G |
3: 107,577,533 (GRCm39) |
S296P |
probably damaging |
Het |
| Alas1 |
A |
G |
9: 106,113,673 (GRCm39) |
V524A |
probably damaging |
Het |
| Amn |
C |
A |
12: 111,238,246 (GRCm39) |
D53E |
probably damaging |
Het |
| Ccdc149 |
T |
C |
5: 52,578,114 (GRCm39) |
E106G |
probably damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,479,560 (GRCm39) |
S226T |
probably damaging |
Het |
| Chd7 |
G |
T |
4: 8,801,350 (GRCm39) |
S698I |
possibly damaging |
Het |
| Chst2 |
A |
G |
9: 95,288,148 (GRCm39) |
L66P |
probably damaging |
Het |
| Cps1 |
C |
T |
1: 67,195,383 (GRCm39) |
P268L |
probably damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Cyp3a59 |
A |
T |
5: 146,036,622 (GRCm39) |
M275L |
probably benign |
Het |
| Ddx41 |
T |
G |
13: 55,682,113 (GRCm39) |
M232L |
probably benign |
Het |
| Dnah6 |
C |
A |
6: 73,133,404 (GRCm39) |
A1068S |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,621,661 (GRCm39) |
I1155V |
probably benign |
Het |
| Dop1b |
G |
A |
16: 93,567,565 (GRCm39) |
V611I |
probably damaging |
Het |
| Epyc |
A |
G |
10: 97,512,875 (GRCm39) |
Y243C |
probably damaging |
Het |
| Fam171a1 |
C |
T |
2: 3,226,570 (GRCm39) |
Q568* |
probably null |
Het |
| Gm5930 |
A |
G |
14: 44,573,918 (GRCm39) |
S105P |
probably damaging |
Het |
| Golga4 |
A |
G |
9: 118,389,810 (GRCm39) |
D2032G |
probably benign |
Het |
| Gps2 |
AGTGCT |
A |
11: 69,806,207 (GRCm39) |
|
probably null |
Het |
| H2-DMb1 |
A |
G |
17: 34,376,289 (GRCm39) |
Y136C |
probably damaging |
Het |
| Il12b |
A |
G |
11: 44,301,039 (GRCm39) |
E185G |
probably benign |
Het |
| Kat7 |
A |
C |
11: 95,182,407 (GRCm39) |
I231R |
probably benign |
Het |
| Kcmf1 |
A |
T |
6: 72,827,466 (GRCm39) |
I58N |
probably damaging |
Het |
| Lmf2 |
A |
T |
15: 89,235,966 (GRCm39) |
V646E |
possibly damaging |
Het |
| Lmo7 |
A |
G |
14: 102,126,121 (GRCm39) |
Q409R |
probably damaging |
Het |
| Lmod1 |
T |
A |
1: 135,292,253 (GRCm39) |
H369Q |
probably benign |
Het |
| M1ap |
G |
A |
6: 82,933,484 (GRCm39) |
A13T |
probably benign |
Het |
| Mapk8ip2 |
G |
T |
15: 89,343,168 (GRCm39) |
V637L |
probably benign |
Het |
| Mettl25 |
C |
A |
10: 105,599,316 (GRCm39) |
V570L |
probably benign |
Het |
| Mfsd1 |
T |
A |
3: 67,508,668 (GRCm39) |
N449K |
probably damaging |
Het |
| Or56a5 |
A |
T |
7: 104,793,020 (GRCm39) |
M166K |
probably benign |
Het |
| Or5b24 |
T |
C |
19: 12,912,383 (GRCm39) |
S94P |
possibly damaging |
Het |
| Or5d18 |
T |
A |
2: 87,865,379 (GRCm39) |
I35F |
probably damaging |
Het |
| Or6c209 |
G |
A |
10: 129,483,711 (GRCm39) |
C238Y |
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,169 (GRCm39) |
S516R |
probably benign |
Het |
| Plppr3 |
C |
T |
10: 79,701,194 (GRCm39) |
M549I |
possibly damaging |
Het |
| Ppl |
A |
G |
16: 4,912,361 (GRCm39) |
V740A |
probably benign |
Het |
| Rabgef1 |
C |
T |
5: 130,240,928 (GRCm39) |
T349M |
probably benign |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,109 (GRCm39) |
C344R |
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,611,455 (GRCm39) |
Q172R |
possibly damaging |
Het |
| Smg9 |
G |
A |
7: 24,119,546 (GRCm39) |
|
probably null |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Trim42 |
A |
T |
9: 97,241,293 (GRCm39) |
N646K |
probably damaging |
Het |
| Usp32 |
T |
C |
11: 84,896,735 (GRCm39) |
I1181V |
probably benign |
Het |
| Vwa5b1 |
C |
A |
4: 138,319,221 (GRCm39) |
|
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 |
|
|
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 |
|
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'- TTCCTCCACCAAAACTTAAGAGTTC -3'
(R):5'- TGTTGTTACAGAAAGGGTGGAC -3'
Sequencing Primer
(F):5'- TATCAGAAGGTGTCAGATCCCCTG -3'
(R):5'- TTACAGAAAGGGTGGACAGGGAAAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation