Incidental Mutation 'R4861:Bora'
| ID |
374571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bora
|
| Ensembl Gene |
ENSMUSG00000022070 |
| Gene Name |
bora, aurora kinase A activator |
| Synonyms |
6720463M24Rik |
| MMRRC Submission |
042472-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.919)
|
| Stock # |
R4861 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
99283880-99311976 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 99284910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022656]
[ENSMUST00000042662]
[ENSMUST00000227128]
[ENSMUST00000227744]
[ENSMUST00000227948]
|
| 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: ENSMUST00000042662
|
| SMART Domains |
Protein: ENSMUSP00000037557
Gene: ENSMUSG00000033186
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:MOZART1
|
19 |
65 |
4.1e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226823
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227128
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227197
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227744
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227948
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228445
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228082
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 87.7%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
T |
2: 69,076,249 (GRCm39) |
R1153H |
probably damaging |
Het |
| Ahcy |
T |
C |
2: 154,902,436 (GRCm39) |
E411G |
probably benign |
Het |
| Alpi |
T |
A |
1: 87,028,191 (GRCm39) |
I211F |
probably damaging |
Het |
| Arfgef3 |
G |
A |
10: 18,483,479 (GRCm39) |
A1415V |
probably benign |
Het |
| Car3 |
T |
C |
3: 14,931,956 (GRCm39) |
V109A |
probably damaging |
Het |
| Cdk13 |
A |
T |
13: 17,941,171 (GRCm39) |
V17D |
probably damaging |
Het |
| Cept1 |
A |
C |
3: 106,413,048 (GRCm39) |
S226A |
probably damaging |
Het |
| Dbt |
A |
T |
3: 116,341,727 (GRCm39) |
I443L |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Farp2 |
T |
C |
1: 93,533,141 (GRCm39) |
L633S |
probably damaging |
Het |
| Gm26727 |
T |
C |
2: 67,263,289 (GRCm39) |
I79M |
probably damaging |
Het |
| Gm5800 |
T |
A |
14: 51,953,504 (GRCm39) |
N37I |
probably damaging |
Het |
| Hapln1 |
G |
A |
13: 89,749,571 (GRCm39) |
G39S |
possibly damaging |
Het |
| Ice2 |
T |
A |
9: 69,322,730 (GRCm39) |
S408R |
probably benign |
Het |
| Lctl |
T |
C |
9: 64,027,045 (GRCm39) |
I131T |
possibly damaging |
Het |
| Ncoa7 |
T |
A |
10: 30,580,608 (GRCm39) |
M117L |
probably benign |
Het |
| Npy4r |
C |
T |
14: 33,868,840 (GRCm39) |
W149* |
probably null |
Het |
| Nr5a2 |
A |
G |
1: 136,876,458 (GRCm39) |
|
probably null |
Het |
| Odad1 |
A |
G |
7: 45,592,297 (GRCm39) |
E359G |
probably damaging |
Het |
| Plg |
G |
A |
17: 12,614,622 (GRCm39) |
E301K |
probably benign |
Het |
| Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,981,743 (GRCm39) |
K1084R |
probably benign |
Het |
| Slc41a2 |
T |
C |
10: 83,152,322 (GRCm39) |
Q51R |
probably damaging |
Het |
| Slc47a2 |
A |
T |
11: 61,227,059 (GRCm39) |
C170S |
probably benign |
Het |
| Slco1b2 |
A |
T |
6: 141,616,948 (GRCm39) |
N427I |
possibly damaging |
Het |
| Smc2 |
G |
A |
4: 52,461,090 (GRCm39) |
R571H |
probably benign |
Het |
| Sp4 |
G |
T |
12: 118,264,546 (GRCm39) |
|
probably null |
Het |
| Tas2r117 |
T |
C |
6: 132,780,092 (GRCm39) |
F77L |
probably benign |
Het |
| Tbcd |
C |
T |
11: 121,492,787 (GRCm39) |
R875C |
probably damaging |
Het |
| Thumpd2 |
A |
G |
17: 81,334,230 (GRCm39) |
S453P |
probably benign |
Het |
| Vars2 |
G |
T |
17: 35,972,825 (GRCm39) |
Q13K |
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 |
|
IGL02119:Bora
|
APN |
14 |
99,290,974 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGGGCTATGGGAGATGTC -3'
(R):5'- ACAGTGCAGGACTTTGCTCC -3'
Sequencing Primer
(F):5'- GAGATGTCAGCGAATTAAAAATGC -3'
(R):5'- CCATAATTCGTTACTAGAGCGTGGC -3'
|
| Posted On |
2016-03-16 |
Incidental Mutation