Mutagenetix > Incidental Mutation

Incidental Mutation 'R1130:Aurka'

98027

Institutional Source

Beutler Lab

Gene Symbol

Aurka

Ensembl Gene

ENSMUSG00000027496

Gene Name

aurora kinase A

Synonyms

Stk6, IAK1, IAK, AIRK1, Aurora-A, Ark1, Ayk1, aurora A

MMRRC Submission

039203-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1130 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

172198110-172212455 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 172199178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104768 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028995] [ENSMUST00000028997] [ENSMUST00000028997] [ENSMUST00000109139] [ENSMUST00000109139] [ENSMUST00000109140] [ENSMUST00000109140]

AlphaFold

P97477

Predicted Effect

probably benign
Transcript: ENSMUST00000028995

SMART Domains

Protein: ENSMUSP00000028995
Gene: ENSMUSG00000027495

Domain	Start	End	E-Value	Type
Pfam:DUF1279	85	172	4e-30	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000028997

SMART Domains

Protein: ENSMUSP00000028997
Gene: ENSMUSG00000027496

Domain	Start	End	E-Value	Type
S_TKc	146	396	2.25e-99	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000028997

SMART Domains

Protein: ENSMUSP00000028997
Gene: ENSMUSG00000027496

Domain	Start	End	E-Value	Type
S_TKc	146	396	2.25e-99	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000109139

SMART Domains

Protein: ENSMUSP00000104767
Gene: ENSMUSG00000027496

Domain	Start	End	E-Value	Type
S_TKc	124	374	2.25e-99	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000109139

SMART Domains

Protein: ENSMUSP00000104767
Gene: ENSMUSG00000027496

Domain	Start	End	E-Value	Type
S_TKc	124	374	2.25e-99	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000109140

SMART Domains

Protein: ENSMUSP00000104768
Gene: ENSMUSG00000027496

Domain	Start	End	E-Value	Type
S_TKc	124	374	2.25e-99	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000109140

SMART Domains

Protein: ENSMUSP00000104768
Gene: ENSMUSG00000027496

Domain	Start	End	E-Value	Type
S_TKc	124	374	2.25e-99	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128004

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.9%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	C	T	15: 81,943,561 (GRCm39)	H58Y	probably benign	Het
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Armc2	T	C	10: 41,887,830 (GRCm39)	D51G	possibly damaging	Het
Aspm	A	T	1: 139,405,572 (GRCm39)	K1486N	possibly damaging	Het
Cfap45	T	C	1: 172,373,264 (GRCm39)	Y534H	probably damaging	Het
Cldn20	T	C	17: 3,583,243 (GRCm39)	Y139H	probably damaging	Het
Defb19	C	A	2: 152,418,109 (GRCm39)	E76*	probably null	Het
Fcho2	A	T	13: 98,884,797 (GRCm39)	D423E	probably damaging	Het
Frem1	T	G	4: 82,834,865 (GRCm39)		probably null	Het
Gaa	C	T	11: 119,165,509 (GRCm39)	T333M	probably damaging	Het
Gm9945	T	A	11: 53,371,345 (GRCm39)		probably benign	Het
Gml2	G	A	15: 74,693,195 (GRCm39)	C66Y	probably damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Kcnh2	G	A	5: 24,536,823 (GRCm39)	R254*	probably null	Het
Megf10	T	C	18: 57,395,078 (GRCm39)	V480A	probably benign	Het
Nrde2	A	T	12: 100,091,929 (GRCm39)	M1152K	probably damaging	Het
Ociad1	T	C	5: 73,451,675 (GRCm39)	S15P	probably benign	Het
Ptprj	A	G	2: 90,283,765 (GRCm39)	V803A	probably damaging	Het
Rxylt1	T	C	10: 121,931,847 (GRCm39)	I109V	possibly damaging	Het
Skint7	T	C	4: 111,841,355 (GRCm39)	I265T	probably benign	Het
Srsf2	A	G	11: 116,743,009 (GRCm39)		probably benign	Het
Tac2	A	G	10: 127,565,371 (GRCm39)	N108D	possibly damaging	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
IGL03188:Aurka	APN	2	172,205,688 (GRCm39)	missense	possibly damaging	0.60
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
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

Predicted Primers

PCR Primer
(F):5'- CCCTCTGTCACAAAGTCAGGGAAAG -3'
(R):5'- ACAGCCGTAGACGTGAGTTGGATG -3'

Sequencing Primer
(F):5'- TCACCCGAGATATCCTTCTGTAAG -3'
(R):5'- GGATGGGTCTGGGGGAAG -3'

Posted On

2014-01-05