Mutagenetix > Incidental Mutation

Incidental Mutation 'R0282:Aurkc'

37614

Institutional Source

Beutler Lab

Gene Symbol

Aurkc

Ensembl Gene

ENSMUSG00000070837

Gene Name

aurora kinase C

Synonyms

IAK3, AIE1, Stk13, AIK3

MMRRC Submission

038504-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0282 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

6998346-7006090 bp(+) (GRCm39)

Type of Mutation

splice site (2366 bp from exon)

DNA Base Change (assembly)

T to A at 7005427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086248] [ENSMUST00000207660] [ENSMUST00000207711] [ENSMUST00000208049] [ENSMUST00000208518]

AlphaFold

O88445

Predicted Effect

probably benign
Transcript: ENSMUST00000086248
AA Change: M231K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000083426
Gene: ENSMUSG00000070837
AA Change: M231K

Domain	Start	End	E-Value	Type
S_TKc	55	305	1.39e-95	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207660
AA Change: M100K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000207711
AA Change: M192K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000208049
AA Change: M192K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably null
Transcript: ENSMUST00000208518

Meta Mutation Damage Score

0.0954

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Aurora subfamily of serine/threonine protein kinases. The encoded protein is a chromosomal passenger protein that forms complexes with Aurora-B and inner centromere proteins and may play a role in organizing microtubules in relation to centrosome/spindle function during mitosis. This gene is overexpressed in several cancer cell lines, suggesting an involvement in oncogenic signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male mice homozygous for a knock-out allele are viable but subfertile, as shown by reduced litter sizes or failure to produce a litter. Observed sperm abnormalities include heterogeneous chromatin condensation, loose acrosomes, and blunted heads. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Afap1l2	A	G	19: 56,904,653 (GRCm39)	S549P	possibly damaging	Het
Alcam	A	T	16: 52,116,104 (GRCm39)	C157S	probably damaging	Het
Aldh1a1	T	C	19: 20,606,413 (GRCm39)		probably benign	Het
Ano8	G	A	8: 71,933,258 (GRCm39)		probably benign	Het
Atr	T	C	9: 95,744,851 (GRCm39)	V56A	probably benign	Het
Bnip3	T	C	7: 138,499,759 (GRCm39)	D76G	probably damaging	Het
Cbr1	A	G	16: 93,407,022 (GRCm39)	E246G	possibly damaging	Het
Ccdc157	G	T	11: 4,096,708 (GRCm39)	A449D	probably damaging	Het
Ces3b	T	A	8: 105,810,483 (GRCm39)	V26D	probably benign	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Crk	G	T	11: 75,594,195 (GRCm39)	G261C	probably damaging	Het
Ctbp1	A	G	5: 33,408,200 (GRCm39)		probably null	Het
Ctnna1	G	A	18: 35,377,175 (GRCm39)	V572I	possibly damaging	Het
D430041D05Rik	T	C	2: 104,031,589 (GRCm39)	Y1669C	probably damaging	Het
Dnah8	T	C	17: 30,955,130 (GRCm39)	F2053S	probably damaging	Het
Dner	G	A	1: 84,383,686 (GRCm39)	T566M	probably damaging	Het
Dner	A	G	1: 84,423,101 (GRCm39)		probably benign	Het
Edrf1	T	C	7: 133,245,751 (GRCm39)	V223A	probably benign	Het
Fam169a	A	G	13: 97,234,223 (GRCm39)		probably benign	Het
Fbxl3	G	A	14: 103,332,661 (GRCm39)	H106Y	probably damaging	Het
Fiz1	A	G	7: 5,012,200 (GRCm39)	V106A	probably benign	Het
Gapvd1	T	A	2: 34,578,972 (GRCm39)	R654*	probably null	Het
Gm7589	G	A	9: 59,053,288 (GRCm39)		noncoding transcript	Het
Ifi202b	A	T	1: 173,804,926 (GRCm39)	S9T	probably benign	Het
Ipmk	G	C	10: 71,208,661 (GRCm39)	S149T	probably benign	Het
Irgm2	A	G	11: 58,110,345 (GRCm39)	E24G	probably benign	Het
Itga2b	A	C	11: 102,351,672 (GRCm39)	V551G	probably damaging	Het
Itgad	C	T	7: 127,789,150 (GRCm39)		probably benign	Het
Kcnh8	T	A	17: 53,032,879 (GRCm39)	F55L	probably damaging	Het
Kdr	G	A	5: 76,110,760 (GRCm39)		probably benign	Het
Krt35	T	C	11: 99,986,573 (GRCm39)	Y147C	probably damaging	Het
Lamc1	A	G	1: 153,131,058 (GRCm39)	F298L	probably benign	Het
Lrrk2	T	C	15: 91,662,617 (GRCm39)		probably benign	Het
Matn1	T	C	4: 130,673,238 (GRCm39)	S69P	probably damaging	Het
Micall1	G	T	15: 79,016,101 (GRCm39)		probably benign	Het
Msto1	A	G	3: 88,818,884 (GRCm39)	V257A	possibly damaging	Het
Mybpc3	G	C	2: 90,954,369 (GRCm39)		probably benign	Het
Mycn	A	G	12: 12,987,314 (GRCm39)	V361A	probably benign	Het
Myo10	A	G	15: 25,793,253 (GRCm39)	T1277A	probably damaging	Het
Myo3a	T	C	2: 22,250,409 (GRCm39)	I92T	probably benign	Het
Nup50l	T	C	6: 96,141,797 (GRCm39)	T416A	probably benign	Het
Or10g1	A	G	14: 52,647,720 (GRCm39)	V203A	possibly damaging	Het
Or2k2	A	G	4: 58,785,344 (GRCm39)	I126T	probably damaging	Het
Or4c104	G	A	2: 88,586,800 (GRCm39)	T73I	probably damaging	Het
Or56b1b	T	A	7: 108,164,684 (GRCm39)	Q106L	probably damaging	Het
Otog	C	T	7: 45,926,917 (GRCm39)	T1222I	possibly damaging	Het
P4ha1	C	T	10: 59,172,970 (GRCm39)	T23M	probably damaging	Het
Pld1	A	T	3: 28,132,422 (GRCm39)	I537F	probably benign	Het
Plekhn1	A	G	4: 156,312,780 (GRCm39)		probably benign	Het
Pxdn	C	A	12: 30,034,439 (GRCm39)	S8*	probably null	Het
Rnf135	A	T	11: 80,084,784 (GRCm39)	I186F	probably damaging	Het
Rock2	T	C	12: 17,027,887 (GRCm39)		probably benign	Het
Rph3a	C	A	5: 121,101,973 (GRCm39)	G88*	probably null	Het
Sarm1	G	A	11: 78,365,806 (GRCm39)	Q740*	probably null	Het
Setd1b	C	A	5: 123,299,080 (GRCm39)		probably benign	Het
Sidt1	A	G	16: 44,102,249 (GRCm39)	S304P	possibly damaging	Het
Slc2a4	A	T	11: 69,837,181 (GRCm39)	V85E	probably damaging	Het
Swi5	A	G	2: 32,170,766 (GRCm39)	Y54H	probably damaging	Het
Sycp1	A	G	3: 102,823,111 (GRCm39)		probably benign	Het
Tarm1	T	C	7: 3,546,006 (GRCm39)	Y87C	probably damaging	Het
Tmem67	G	A	4: 12,087,930 (GRCm39)	T72M	probably damaging	Het
Tor1a	A	G	2: 30,857,737 (GRCm39)	Y44H	possibly damaging	Het
Ttll5	T	C	12: 86,042,827 (GRCm39)	Y1128H	probably benign	Het
Usp40	G	A	1: 87,908,680 (GRCm39)		probably benign	Het
Vmn2r18	A	T	5: 151,508,668 (GRCm39)	M152K	probably benign	Het
Xirp2	T	A	2: 67,343,724 (GRCm39)	D1988E	probably damaging	Het
Zfp420	A	G	7: 29,575,105 (GRCm39)	I442V	probably benign	Het
Zyx	A	G	6: 42,332,939 (GRCm39)	E363G	probably damaging	Het

Other mutations in Aurkc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Aurkc	APN	7	6,999,547 (GRCm39)	missense	probably damaging	1.00
IGL00896:Aurkc	APN	7	7,005,513 (GRCm39)	missense	possibly damaging	0.61
R0615:Aurkc	UTSW	7	7,005,402 (GRCm39)	missense	possibly damaging	0.82
R3498:Aurkc	UTSW	7	7,003,029 (GRCm39)	missense	probably damaging	1.00
R3607:Aurkc	UTSW	7	7,005,859 (GRCm39)	missense	probably damaging	1.00
R4682:Aurkc	UTSW	7	6,998,538 (GRCm39)	missense	probably null	0.00
R5739:Aurkc	UTSW	7	7,005,859 (GRCm39)	missense	probably benign	0.01
R7592:Aurkc	UTSW	7	7,003,006 (GRCm39)	missense	probably benign	0.01
R8483:Aurkc	UTSW	7	6,999,664 (GRCm39)	nonsense	probably null
R8933:Aurkc	UTSW	7	7,005,796 (GRCm39)	missense	possibly damaging	0.92
R9003:Aurkc	UTSW	7	6,999,547 (GRCm39)	missense	probably damaging	1.00
X0025:Aurkc	UTSW	7	6,998,527 (GRCm39)	splice site	probably null
Z1176:Aurkc	UTSW	7	6,998,513 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCCCATTTCCTTGGAAGCTGAACAG -3'
(R):5'- TGGCACCCTTTTGGCTATTAGCAG -3'

Sequencing Primer
(F):5'- tcagaaatccgcctgcc -3'
(R):5'- AGGAGCCATCACTGTCTGG -3'

Posted On

2013-05-23