Incidental Mutation 'IGL03188:Aurka'
| ID |
412516 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aurka
|
| Ensembl Gene |
ENSMUSG00000027496 |
| Gene Name |
aurora kinase A |
| Synonyms |
Stk6, IAK1, IAK, AIRK1, Aurora-A, Ark1, Ayk1, aurora A |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03188
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
172198110-172212455 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 172205688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 123
(D123E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104768
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028997]
[ENSMUST00000109139]
[ENSMUST00000109140]
|
| AlphaFold |
P97477 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028997
AA Change: D145E
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000028997
Gene: ENSMUSG00000027496
AA Change: D145E
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
146 |
396 |
2.25e-99 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109139
AA Change: D123E
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000104767
Gene: ENSMUSG00000027496
AA Change: D123E
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
124 |
374 |
2.25e-99 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109140
AA Change: D123E
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000104768
Gene: ENSMUSG00000027496
AA Change: D123E
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
124 |
374 |
2.25e-99 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126107
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128004
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cell cycle-regulated kinase that appears to be involved in microtubule formation and/or stabilization at the spindle pole during chromosome segregation. The encoded protein is found at the centrosome in interphase cells and at the spindle poles in mitosis. This gene may play a role in tumor development and progression. A processed pseudogene of this gene has been found on chromosome 1, and an unprocessed pseudogene has been found on chromosome 10. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display embryonic lethality before implantation, early embryonic growth arrest, and impaired mitosis. Heterozygous null mice display increased incidence of tumors primarily lymphomas and chromosomal instability. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(25) : Targeted(4) Gene trapped(21)
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
C |
A |
8: 114,425,656 (GRCm39) |
C1202F |
probably damaging |
Het |
| Ago2 |
C |
T |
15: 72,995,182 (GRCm39) |
V466I |
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Aptx |
A |
T |
4: 40,695,143 (GRCm39) |
|
probably null |
Het |
| Btaf1 |
T |
C |
19: 36,926,508 (GRCm39) |
I60T |
possibly damaging |
Het |
| Ccdc154 |
A |
T |
17: 25,383,067 (GRCm39) |
|
probably null |
Het |
| Cct5 |
T |
C |
15: 31,598,148 (GRCm39) |
N55S |
probably benign |
Het |
| Cntnap3 |
A |
G |
13: 64,929,559 (GRCm39) |
S547P |
probably damaging |
Het |
| Efl1 |
T |
A |
7: 82,320,909 (GRCm39) |
I114N |
probably damaging |
Het |
| Gprin1 |
T |
C |
13: 54,886,465 (GRCm39) |
D603G |
probably benign |
Het |
| Il16 |
A |
G |
7: 83,337,371 (GRCm39) |
S115P |
probably benign |
Het |
| Kalrn |
C |
A |
16: 34,134,562 (GRCm39) |
V401L |
probably benign |
Het |
| Kcnq4 |
T |
A |
4: 120,561,623 (GRCm39) |
K482I |
possibly damaging |
Het |
| L3mbtl3 |
C |
T |
10: 26,218,515 (GRCm39) |
A114T |
unknown |
Het |
| Lig1 |
G |
A |
7: 13,045,032 (GRCm39) |
|
probably benign |
Het |
| Lnx1 |
G |
A |
5: 74,780,924 (GRCm39) |
T199M |
probably damaging |
Het |
| Mapk13 |
A |
G |
17: 28,995,557 (GRCm39) |
|
probably benign |
Het |
| Mfsd2b |
A |
T |
12: 4,916,538 (GRCm39) |
|
probably null |
Het |
| Mrpl3 |
A |
G |
9: 104,934,264 (GRCm39) |
D137G |
probably benign |
Het |
| Muc15 |
A |
G |
2: 110,562,044 (GRCm39) |
D160G |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,137,369 (GRCm39) |
|
probably null |
Het |
| Nipa2 |
T |
G |
7: 55,582,680 (GRCm39) |
N355T |
probably benign |
Het |
| Or11h4 |
A |
T |
14: 50,974,315 (GRCm39) |
Y101* |
probably null |
Het |
| Or2v2 |
T |
C |
11: 49,004,536 (GRCm39) |
N6D |
probably damaging |
Het |
| Or51a43 |
A |
G |
7: 103,717,945 (GRCm39) |
S98P |
possibly damaging |
Het |
| Or5p60 |
T |
C |
7: 107,723,841 (GRCm39) |
T210A |
probably benign |
Het |
| Pfkm |
G |
T |
15: 98,021,124 (GRCm39) |
|
probably null |
Het |
| Ppip5k1 |
A |
G |
2: 121,157,327 (GRCm39) |
|
probably benign |
Het |
| Ppp1r18 |
A |
G |
17: 36,178,857 (GRCm39) |
D244G |
possibly damaging |
Het |
| Rimoc1 |
A |
G |
15: 4,018,187 (GRCm39) |
Y163H |
probably damaging |
Het |
| Scn2a |
T |
C |
2: 65,501,997 (GRCm39) |
S107P |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,351,632 (GRCm39) |
I783N |
probably damaging |
Het |
| Snx1 |
A |
G |
9: 66,001,734 (GRCm39) |
W307R |
probably damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,971,225 (GRCm39) |
Y186C |
possibly damaging |
Het |
| Stk11ip |
G |
A |
1: 75,511,079 (GRCm39) |
V928M |
probably benign |
Het |
| Tgm4 |
A |
G |
9: 122,874,101 (GRCm39) |
M114V |
probably null |
Het |
| Trpm2 |
G |
A |
10: 77,754,743 (GRCm39) |
R1248C |
probably benign |
Het |
| Txnrd1 |
T |
C |
10: 82,720,880 (GRCm39) |
I347T |
possibly damaging |
Het |
| Unc5a |
A |
G |
13: 55,147,316 (GRCm39) |
S106G |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,612 (GRCm39) |
M691V |
probably benign |
Het |
| Zfp58 |
T |
A |
13: 67,639,528 (GRCm39) |
Q321L |
probably benign |
Het |
|
| Other mutations in Aurka |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01458:Aurka
|
APN |
2 |
172,210,899 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02338:Aurka
|
APN |
2 |
172,201,778 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02894:Aurka
|
APN |
2 |
172,208,868 (GRCm39) |
splice site |
probably null |
|
|
G1Funyon:Aurka
|
UTSW |
2 |
172,198,850 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4585001:Aurka
|
UTSW |
2 |
172,199,117 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0006:Aurka
|
UTSW |
2 |
172,201,673 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0006:Aurka
|
UTSW |
2 |
172,201,673 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0458:Aurka
|
UTSW |
2 |
172,212,366 (GRCm39) |
nonsense |
probably null |
|
|
R0555:Aurka
|
UTSW |
2 |
172,209,067 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1130:Aurka
|
UTSW |
2 |
172,199,178 (GRCm39) |
splice site |
probably null |
|
|
R1140:Aurka
|
UTSW |
2 |
172,199,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2507:Aurka
|
UTSW |
2 |
172,212,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2887:Aurka
|
UTSW |
2 |
172,209,040 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2889:Aurka
|
UTSW |
2 |
172,209,040 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3772:Aurka
|
UTSW |
2 |
172,208,880 (GRCm39) |
missense |
probably benign |
|
|
R4929:Aurka
|
UTSW |
2 |
172,212,326 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5409:Aurka
|
UTSW |
2 |
172,209,036 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6158:Aurka
|
UTSW |
2 |
172,205,516 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6689:Aurka
|
UTSW |
2 |
172,212,313 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6828:Aurka
|
UTSW |
2 |
172,199,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7912:Aurka
|
UTSW |
2 |
172,210,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8066:Aurka
|
UTSW |
2 |
172,212,338 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8301:Aurka
|
UTSW |
2 |
172,198,850 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9764:Aurka
|
UTSW |
2 |
172,201,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation