Incidental Mutation 'IGL01582:Aurkb'
ID |
91389 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Aurkb
|
Ensembl Gene |
ENSMUSG00000020897 |
Gene Name |
aurora kinase B |
Synonyms |
Stk5, IPL1, STK-1, AIRK2, aurora B, Aik2, Stk12 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01582
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
68936473-68942490 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 68939605 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 201
(V201I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104306
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021277]
[ENSMUST00000108666]
|
AlphaFold |
O70126 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021277
AA Change: V201I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000021277 Gene: ENSMUSG00000020897 AA Change: V201I
Domain | Start | End | E-Value | Type |
S_TKc
|
82 |
332 |
2.75e-94 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108666
AA Change: V201I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104306 Gene: ENSMUSG00000020897 AA Change: V201I
Domain | Start | End | E-Value | Type |
S_TKc
|
82 |
332 |
2.75e-94 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126576
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139457
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139594
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140531
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156373
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149018
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the aurora kinase subfamily of serine/threonine kinases. The genes encoding the other two members of this subfamily are located on chromosomes 2 and 7. These kinases participate in the regulation of alignment and segregation of chromosomes during mitosis and meiosis through association with microtubules. [provided by RefSeq, Sep 2015] PHENOTYPE: Heterozygous null mice may develop oligospermia and show premature death and increased tumor incidence. Homozygous null embryos are small and die post-implantation showing reduced inner cell mass outgrowth, mitotic defects, aberrant trophoblast giant cells, edema, hemorrhage and increased apoptosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Csmd2 |
G |
T |
4: 128,457,098 (GRCm39) |
E212* |
probably null |
Het |
Dsg1a |
G |
T |
18: 20,461,905 (GRCm39) |
K335N |
probably null |
Het |
Epn2 |
A |
G |
11: 61,412,695 (GRCm39) |
S430P |
probably benign |
Het |
Ezh2 |
A |
T |
6: 47,532,989 (GRCm39) |
Y144* |
probably null |
Het |
Fcgbp |
G |
T |
7: 27,793,067 (GRCm39) |
D1024Y |
probably benign |
Het |
Gramd2b |
A |
G |
18: 56,618,488 (GRCm39) |
E232G |
probably damaging |
Het |
Inf2 |
A |
G |
12: 112,576,993 (GRCm39) |
K989R |
unknown |
Het |
Lrpprc |
G |
A |
17: 85,061,971 (GRCm39) |
A577V |
probably null |
Het |
Mansc1 |
T |
A |
6: 134,598,836 (GRCm39) |
N27I |
possibly damaging |
Het |
Nr1i3 |
A |
T |
1: 171,042,541 (GRCm39) |
I56F |
possibly damaging |
Het |
Ntpcr |
T |
C |
8: 126,471,981 (GRCm39) |
S64P |
probably benign |
Het |
Or52e19b |
A |
T |
7: 103,032,806 (GRCm39) |
Y134* |
probably null |
Het |
Ppwd1 |
A |
G |
13: 104,350,212 (GRCm39) |
I391T |
probably benign |
Het |
Serpinb3d |
A |
G |
1: 107,007,396 (GRCm39) |
F197L |
probably damaging |
Het |
Siglecf |
A |
G |
7: 43,008,145 (GRCm39) |
N553D |
possibly damaging |
Het |
Slc2a2 |
A |
G |
3: 28,762,637 (GRCm39) |
D60G |
probably benign |
Het |
Speer1j |
A |
G |
5: 11,555,240 (GRCm39) |
T70A |
probably benign |
Het |
Spsb4 |
T |
G |
9: 96,878,143 (GRCm39) |
D60A |
probably damaging |
Het |
Tnnt1 |
T |
C |
7: 4,512,982 (GRCm39) |
E100G |
probably damaging |
Het |
Zmiz1 |
T |
C |
14: 25,658,654 (GRCm39) |
M938T |
probably benign |
Het |
|
Other mutations in Aurkb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0193:Aurkb
|
UTSW |
11 |
68,939,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R0924:Aurkb
|
UTSW |
11 |
68,936,822 (GRCm39) |
nonsense |
probably null |
|
R4622:Aurkb
|
UTSW |
11 |
68,939,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R4664:Aurkb
|
UTSW |
11 |
68,939,435 (GRCm39) |
missense |
probably damaging |
0.98 |
R4933:Aurkb
|
UTSW |
11 |
68,938,970 (GRCm39) |
intron |
probably benign |
|
R5243:Aurkb
|
UTSW |
11 |
68,936,752 (GRCm39) |
splice site |
probably benign |
|
R5705:Aurkb
|
UTSW |
11 |
68,939,641 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6457:Aurkb
|
UTSW |
11 |
68,939,172 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6604:Aurkb
|
UTSW |
11 |
68,939,388 (GRCm39) |
nonsense |
probably null |
|
R7739:Aurkb
|
UTSW |
11 |
68,939,058 (GRCm39) |
nonsense |
probably null |
|
R8461:Aurkb
|
UTSW |
11 |
68,941,727 (GRCm39) |
missense |
probably damaging |
0.98 |
R9289:Aurkb
|
UTSW |
11 |
68,941,175 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1186:Aurkb
|
UTSW |
11 |
68,938,696 (GRCm39) |
missense |
probably benign |
|
Z1186:Aurkb
|
UTSW |
11 |
68,938,692 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1187:Aurkb
|
UTSW |
11 |
68,938,696 (GRCm39) |
missense |
probably benign |
|
Z1187:Aurkb
|
UTSW |
11 |
68,938,692 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1188:Aurkb
|
UTSW |
11 |
68,938,696 (GRCm39) |
missense |
probably benign |
|
Z1188:Aurkb
|
UTSW |
11 |
68,938,692 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1189:Aurkb
|
UTSW |
11 |
68,938,696 (GRCm39) |
missense |
probably benign |
|
Z1189:Aurkb
|
UTSW |
11 |
68,938,692 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1190:Aurkb
|
UTSW |
11 |
68,938,696 (GRCm39) |
missense |
probably benign |
|
Z1190:Aurkb
|
UTSW |
11 |
68,938,692 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1191:Aurkb
|
UTSW |
11 |
68,938,696 (GRCm39) |
missense |
probably benign |
|
Z1191:Aurkb
|
UTSW |
11 |
68,938,692 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1192:Aurkb
|
UTSW |
11 |
68,938,696 (GRCm39) |
missense |
probably benign |
|
Z1192:Aurkb
|
UTSW |
11 |
68,938,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-09 |