Mutagenetix > Incidental Mutation

Incidental Mutation 'R6158:Aurka'

489685

Institutional Source

Beutler Lab

Gene Symbol

Aurka

Ensembl Gene

ENSMUSG00000027496

Gene Name

aurora kinase A

Synonyms

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

MMRRC Submission

044305-MU

Accession Numbers

Ncbi RefSeq: NM_011497.3; MGI:894678

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

172356190-172370535 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 172363596 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104768 (fasta)

Gene Model

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

AlphaFold

P97477

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: 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: ENSMUST00000126107

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128004

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.5%
20x: 92.6%

Validation Efficiency

98% (65/66)

MGI Phenotype

Strain: 3836423; 3826513
Lethality: E1-E4
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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,170,636	V793A	possibly damaging	Het
2900092C05Rik	A	G	7: 12,512,672	T32A	probably benign	Het
Adprhl1	C	T	8: 13,224,977	V594M	possibly damaging	Het
Ano3	A	T	2: 110,665,875	Y845N	probably damaging	Het
Arhgap24	A	T	5: 102,892,912	I575L	probably benign	Het
C1qtnf5	A	T	9: 44,108,970		probably benign	Het
Cacnb2	A	G	2: 14,985,601	D454G	possibly damaging	Het
Ccdc58	T	A	16: 36,089,929	V118D	probably damaging	Het
Chchd5	T	C	2: 129,130,517	L87P	probably damaging	Het
Col7a1	G	T	9: 108,964,603	R1377L	unknown	Het
Cpne8	A	C	15: 90,571,988	S191A	probably damaging	Het
Dhx30	A	T	9: 110,087,030	I671N	probably damaging	Het
Dnah12	A	T	14: 26,773,685	K1423N	possibly damaging	Het
Dnm3	T	C	1: 162,320,987	M272V	probably damaging	Het
Fat4	A	T	3: 38,983,262	S3688C	possibly damaging	Het
Frmpd1	A	T	4: 45,285,401	L1407F	probably damaging	Het
Fry	T	C	5: 150,454,572	S410P	probably damaging	Het
Gm11565	T	A	11: 99,914,918	C45*	probably null	Het
Gngt1	A	T	6: 3,994,311	R30*	probably null	Het
Htt	T	C	5: 34,907,086	I2943T	possibly damaging	Het
Kl	T	A	5: 150,988,853	M689K	possibly damaging	Het
Lmo7	T	A	14: 101,900,137	D247E	probably benign	Het
Mastl	G	T	2: 23,132,772	N646K	possibly damaging	Het
Mei4	G	T	9: 81,927,576	L237F	probably damaging	Het
Mettl27	C	T	5: 134,940,576	P170S	possibly damaging	Het
Mgam	T	A	6: 40,757,714	I896K	probably damaging	Het
Moxd1	T	A	10: 24,284,777	C443S	probably damaging	Het
Myo18b	A	T	5: 112,874,172	N451K	probably benign	Het
Myo7b	T	C	18: 31,988,549	I768V	probably benign	Het
Nos1	A	C	5: 117,867,574	I120L	probably benign	Het
Nsd1	T	C	13: 55,245,621	V345A	probably benign	Het
Olfr1095	A	G	2: 86,851,515	L61P	possibly damaging	Het
Olfr1205	T	C	2: 88,831,146	F10L	probably damaging	Het
Olfr150	C	T	9: 39,737,076	T87I	probably benign	Het
Olfr170	C	A	16: 19,605,925	V248F	probably damaging	Het
Olfr344	A	T	2: 36,569,116	T173S	probably benign	Het
Pdzph1	T	G	17: 58,973,627	Q553H	probably damaging	Het
Piwil1	T	A	5: 128,747,876	L546*	probably null	Het
Pla2g4f	T	C	2: 120,301,071	T724A	probably benign	Het
Ralgapa2	A	T	2: 146,424,676	M660K	possibly damaging	Het
Rgsl1	T	C	1: 153,804,021	D103G	possibly damaging	Het
Rnf186	A	G	4: 138,967,254	D35G	probably damaging	Het
Rock2	A	G	12: 16,954,918	D424G	probably benign	Het
Scg2	A	T	1: 79,435,400	D495E	probably damaging	Het
Slc39a2	G	A	14: 51,894,224		probably null	Het
Snrnp48	T	A	13: 38,210,236	Y100*	probably null	Het
Spaca1	A	G	4: 34,029,176	M99T	probably damaging	Het
Specc1	T	G	11: 62,118,124	F235L	probably damaging	Het
St13	A	T	15: 81,399,601		probably null	Het
Swap70	T	A	7: 110,270,023	M341K	probably damaging	Het
Synj2	A	G	17: 5,986,212	D67G	probably benign	Het
Tmem135	T	A	7: 89,156,444	I251F	probably benign	Het
Tmem87a	A	T	2: 120,360,103		probably null	Het
Tom1l2	C	T	11: 60,232,927	D128N	probably damaging	Het
Tpx2	C	A	2: 152,873,104	H82N	probably benign	Het
Trip12	A	T	1: 84,761,012	C738S	possibly damaging	Het
Ttyh1	A	G	7: 4,125,562	T153A	probably benign	Het
Utrn	C	T	10: 12,690,822	G1199S	probably benign	Het
Vmn1r8	T	A	6: 57,036,289	N108K	probably benign	Het
Vmn2r63	T	A	7: 42,933,680	D37V	probably damaging	Het
Vwce	C	T	19: 10,644,221	R206C	possibly damaging	Het
Wrn	G	T	8: 33,319,172	F265L	probably damaging	Het
Zfp472	T	A	17: 32,978,389	C479*	probably null	Het
Zfp831	A	T	2: 174,643,858	T109S	possibly damaging	Het
Znfx1	G	T	2: 167,056,726	Q93K	probably benign	Het

Other mutations in Aurka

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01458:Aurka	APN	2	172368979	unclassified	probably benign
IGL02338:Aurka	APN	2	172359858	missense	probably benign	0.00
IGL02894:Aurka	APN	2	172366948	splice site	probably null
IGL03188:Aurka	APN	2	172363768	missense	possibly damaging	0.60
G1Funyon:Aurka	UTSW	2	172356930	missense	probably damaging	0.99
PIT4585001:Aurka	UTSW	2	172357197	missense	probably benign	0.01
R0006:Aurka	UTSW	2	172359753	critical splice donor site	probably null
R0006:Aurka	UTSW	2	172359753	critical splice donor site	probably null
R0458:Aurka	UTSW	2	172370446	nonsense	probably null
R0555:Aurka	UTSW	2	172367147	missense	probably benign	0.07
R1130:Aurka	UTSW	2	172357258	splice site	probably null
R1140:Aurka	UTSW	2	172357229	missense	probably damaging	1.00
R2507:Aurka	UTSW	2	172370445	missense	probably benign	0.00
R2887:Aurka	UTSW	2	172367120	missense	probably benign	0.01
R2889:Aurka	UTSW	2	172367120	missense	probably benign	0.01
R3772:Aurka	UTSW	2	172366960	missense	probably benign
R4929:Aurka	UTSW	2	172370406	missense	probably benign	0.05
R5409:Aurka	UTSW	2	172367116	missense	possibly damaging	0.78
R6689:Aurka	UTSW	2	172370393	critical splice donor site	probably null
R6828:Aurka	UTSW	2	172357252	missense	probably damaging	1.00
R7912:Aurka	UTSW	2	172369029	missense	probably benign	0.00
R8066:Aurka	UTSW	2	172370418	missense	probably benign	0.00
R8301:Aurka	UTSW	2	172356930	missense	probably damaging	0.99
R9764:Aurka	UTSW	2	172359840	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGTCAAACTCAGAAACACTG -3'
(R):5'- GATTTTGACATTGGCCGCCC -3'

Sequencing Primer
(F):5'- TACCAACTCACCCAGTGTCTC -3'
(R):5'- TTGGCCGCCCACTAGGAAAAG -3'

Posted On

2017-10-10