Incidental Mutation 'IGL02119:Bora'
ID |
280528 |
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: 0.919)
|
Stock # |
IGL02119
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
99283880-99311976 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 99290974 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 94
(D94G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154660
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022656]
[ENSMUST00000227128]
[ENSMUST00000227744]
|
AlphaFold |
Q8BS90 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022656
AA Change: D94G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000022656 Gene: ENSMUSG00000022070 AA Change: D94G
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 damaging
Transcript: ENSMUST00000227744
AA Change: D94G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
T |
A |
2: 69,158,344 (GRCm39) |
|
probably null |
Het |
Acsbg2 |
T |
C |
17: 57,175,459 (GRCm39) |
|
probably benign |
Het |
Ap3b1 |
T |
C |
13: 94,598,911 (GRCm39) |
V495A |
probably benign |
Het |
Astn1 |
T |
C |
1: 158,338,724 (GRCm39) |
|
probably benign |
Het |
Bpifb9b |
G |
T |
2: 154,155,544 (GRCm39) |
V348L |
possibly damaging |
Het |
Cd160 |
A |
T |
3: 96,716,139 (GRCm39) |
I17N |
possibly damaging |
Het |
Cyp2d11 |
A |
C |
15: 82,274,265 (GRCm39) |
I372S |
probably damaging |
Het |
Dennd2c |
T |
A |
3: 103,044,559 (GRCm39) |
V380D |
probably damaging |
Het |
Fat4 |
C |
T |
3: 39,037,088 (GRCm39) |
A3580V |
probably benign |
Het |
Filip1 |
A |
G |
9: 79,725,548 (GRCm39) |
S1024P |
probably benign |
Het |
Flnc |
G |
A |
6: 29,447,511 (GRCm39) |
E1105K |
probably damaging |
Het |
Gbp4 |
T |
A |
5: 105,268,908 (GRCm39) |
E415V |
probably benign |
Het |
Gdap1l1 |
T |
A |
2: 163,295,588 (GRCm39) |
F224Y |
probably damaging |
Het |
Gm11146 |
A |
T |
16: 77,385,498 (GRCm39) |
|
probably null |
Het |
Gsn |
G |
T |
2: 35,192,507 (GRCm39) |
R485L |
probably damaging |
Het |
Havcr1 |
A |
G |
11: 46,666,320 (GRCm39) |
Y261C |
probably damaging |
Het |
Maneal |
A |
T |
4: 124,752,960 (GRCm39) |
I229N |
probably benign |
Het |
Med24 |
A |
T |
11: 98,619,661 (GRCm39) |
M27K |
probably benign |
Het |
Nipsnap2 |
T |
A |
5: 129,825,056 (GRCm39) |
|
probably benign |
Het |
Noa1 |
T |
A |
5: 77,455,426 (GRCm39) |
Q430L |
probably benign |
Het |
Or1l4 |
C |
A |
2: 37,091,281 (GRCm39) |
S9R |
possibly damaging |
Het |
Or5d47 |
T |
A |
2: 87,804,754 (GRCm39) |
N85I |
probably benign |
Het |
Or7g12 |
T |
C |
9: 18,899,908 (GRCm39) |
V208A |
probably benign |
Het |
Or8h9 |
T |
C |
2: 86,789,527 (GRCm39) |
I92V |
probably benign |
Het |
Pde3a |
T |
A |
6: 141,405,529 (GRCm39) |
S460R |
probably damaging |
Het |
Pdzd8 |
T |
C |
19: 59,288,922 (GRCm39) |
Q826R |
possibly damaging |
Het |
Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
Pikfyve |
T |
A |
1: 65,311,730 (GRCm39) |
I1989N |
probably damaging |
Het |
Poldip2 |
T |
A |
11: 78,408,734 (GRCm39) |
F200I |
probably damaging |
Het |
Prodh2 |
T |
C |
7: 30,205,929 (GRCm39) |
V208A |
probably damaging |
Het |
Ranbp10 |
T |
C |
8: 106,553,635 (GRCm39) |
D89G |
probably damaging |
Het |
Rbm33 |
T |
A |
5: 28,544,015 (GRCm39) |
S90R |
probably damaging |
Het |
Slc44a4 |
A |
C |
17: 35,147,637 (GRCm39) |
D441A |
probably damaging |
Het |
Slc4a10 |
A |
T |
2: 62,059,014 (GRCm39) |
I174F |
probably damaging |
Het |
Smim17 |
T |
C |
7: 6,430,160 (GRCm39) |
|
probably benign |
Het |
Tln1 |
T |
C |
4: 43,546,760 (GRCm39) |
E872G |
probably damaging |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Top2b |
T |
C |
14: 16,406,733 (GRCm38) |
L625S |
probably damaging |
Het |
Vmn2r59 |
A |
G |
7: 41,695,593 (GRCm39) |
V273A |
probably benign |
Het |
Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
Whrn |
T |
G |
4: 63,353,724 (GRCm39) |
K348Q |
probably damaging |
Het |
Zc3h14 |
T |
C |
12: 98,730,154 (GRCm39) |
V399A |
probably benign |
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 |
IGL02129:Bora
|
APN |
14 |
99,294,257 (GRCm39) |
critical splice donor site |
probably null |
|
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 |