Incidental Mutation 'IGL02129:Bora'
| ID |
280991 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bora
|
| Ensembl Gene |
ENSMUSG00000022070 |
| Gene Name |
bora, aurora kinase A activator |
| Synonyms |
6720463M24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.924)
|
| Stock # |
IGL02129
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
99283880-99311976 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 99294257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022656]
[ENSMUST00000227128]
[ENSMUST00000227744]
|
| AlphaFold |
Q8BS90 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022656
|
| SMART Domains |
Protein: ENSMUSP00000022656
Gene: ENSMUSG00000022070
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BORA_N
|
7 |
207 |
2.4e-69 |
PFAM |
|
low complexity region
|
392 |
403 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227128
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227744
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] BORA is an activator of the protein kinase Aurora A (AURKA; MIM 603072), which is required for centrosome maturation, spindle assembly, and asymmetric protein localization during mitosis (Hutterer et al., 2006 [PubMed 16890155]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp1a3 |
T |
A |
7: 24,696,711 (GRCm39) |
H293L |
probably damaging |
Het |
| AU040320 |
A |
G |
4: 126,717,485 (GRCm39) |
Y354C |
probably damaging |
Het |
| Bag4 |
T |
C |
8: 26,258,113 (GRCm39) |
T405A |
probably damaging |
Het |
| Best1 |
T |
A |
19: 9,970,285 (GRCm39) |
Q109L |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,979,193 (GRCm39) |
T707I |
probably benign |
Het |
| Btnl9 |
A |
C |
11: 49,060,100 (GRCm39) |
D464E |
probably damaging |
Het |
| Cebpe |
T |
A |
14: 54,949,070 (GRCm39) |
R116W |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,613,539 (GRCm39) |
|
probably benign |
Het |
| Copb2 |
T |
C |
9: 98,467,976 (GRCm39) |
|
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,470,837 (GRCm39) |
E3G |
unknown |
Het |
| Fam117b |
A |
G |
1: 60,020,582 (GRCm39) |
H484R |
probably benign |
Het |
| Fgb |
T |
A |
3: 82,950,725 (GRCm39) |
K343M |
probably benign |
Het |
| Fkbpl |
C |
T |
17: 34,864,952 (GRCm39) |
T240M |
probably damaging |
Het |
| Gemin6 |
T |
C |
17: 80,535,355 (GRCm39) |
L105P |
probably damaging |
Het |
| Heatr3 |
T |
C |
8: 88,884,899 (GRCm39) |
|
probably benign |
Het |
| Itch |
C |
T |
2: 155,059,908 (GRCm39) |
|
probably benign |
Het |
| Kank3 |
C |
T |
17: 34,036,465 (GRCm39) |
P111L |
probably benign |
Het |
| Mthfsl |
T |
A |
9: 88,597,589 (GRCm39) |
I111F |
probably damaging |
Het |
| Mtor |
A |
T |
4: 148,634,302 (GRCm39) |
M2382L |
possibly damaging |
Het |
| Myh2 |
A |
G |
11: 67,076,084 (GRCm39) |
D757G |
probably benign |
Het |
| Naa35 |
A |
G |
13: 59,757,339 (GRCm39) |
D238G |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,955,432 (GRCm39) |
Y373* |
probably null |
Het |
| Or5an10 |
T |
A |
19: 12,275,822 (GRCm39) |
I225F |
probably damaging |
Het |
| Pigm |
G |
A |
1: 172,205,434 (GRCm39) |
W390* |
probably null |
Het |
| Plxnb2 |
A |
G |
15: 89,044,613 (GRCm39) |
V1211A |
probably benign |
Het |
| Sh3yl1 |
T |
A |
12: 30,992,876 (GRCm39) |
|
probably benign |
Het |
| Spg11 |
T |
A |
2: 121,926,167 (GRCm39) |
Q709H |
probably damaging |
Het |
| Spr-ps1 |
A |
G |
6: 85,132,804 (GRCm39) |
|
noncoding transcript |
Het |
| Tc2n |
T |
C |
12: 101,656,048 (GRCm39) |
N208D |
probably damaging |
Het |
| Tdo2 |
C |
T |
3: 81,866,232 (GRCm39) |
V344M |
probably damaging |
Het |
| Ttll1 |
G |
A |
15: 83,368,450 (GRCm39) |
P403S |
probably benign |
Het |
| Usp20 |
T |
C |
2: 30,894,462 (GRCm39) |
V126A |
probably benign |
Het |
| Zfp109 |
T |
C |
7: 23,936,054 (GRCm39) |
T2A |
possibly damaging |
Het |
|
| Other mutations in Bora |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02111:Bora
|
APN |
14 |
99,284,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02119:Bora
|
APN |
14 |
99,290,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02171:Bora
|
APN |
14 |
99,284,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03338:Bora
|
APN |
14 |
99,310,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Bora
|
UTSW |
14 |
99,299,059 (GRCm39) |
nonsense |
probably null |
|
|
R1598:Bora
|
UTSW |
14 |
99,305,840 (GRCm39) |
missense |
probably benign |
|
|
R2070:Bora
|
UTSW |
14 |
99,299,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2071:Bora
|
UTSW |
14 |
99,299,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4521:Bora
|
UTSW |
14 |
99,305,984 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4861:Bora
|
UTSW |
14 |
99,284,910 (GRCm39) |
splice site |
probably null |
|
|
R4881:Bora
|
UTSW |
14 |
99,299,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4982:Bora
|
UTSW |
14 |
99,284,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5341:Bora
|
UTSW |
14 |
99,305,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5378:Bora
|
UTSW |
14 |
99,305,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5913:Bora
|
UTSW |
14 |
99,305,948 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6082:Bora
|
UTSW |
14 |
99,299,730 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6083:Bora
|
UTSW |
14 |
99,299,730 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6084:Bora
|
UTSW |
14 |
99,299,730 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6085:Bora
|
UTSW |
14 |
99,299,730 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6086:Bora
|
UTSW |
14 |
99,299,730 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6269:Bora
|
UTSW |
14 |
99,311,103 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7354:Bora
|
UTSW |
14 |
99,284,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7794:Bora
|
UTSW |
14 |
99,310,080 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7962:Bora
|
UTSW |
14 |
99,310,162 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8299:Bora
|
UTSW |
14 |
99,305,570 (GRCm39) |
missense |
probably benign |
0.35 |
|
| Posted On |
2015-04-16 |
Incidental Mutation