Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02119:Bora'

280528

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bora

Ensembl Gene

ENSMUSG00000022070

Gene Name

bora, aurora kinase A activator

Synonyms

6720463M24Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.927) question?

Stock #

IGL02119

Quality Score

Status

Chromosome

Chromosomal Location

99046222-99074540 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99053538 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 94 (D94G)

Ref Sequence

ENSEMBL: ENSMUSP00000154660 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022656] [ENSMUST00000227128] [ENSMUST00000227744]

Predicted Effect

probably damaging
Transcript: ENSMUST00000022656
AA Change: D94G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022656
Gene: ENSMUSG00000022070
AA Change: D94G

Domain	Start	End	E-Value	Type
Pfam:BORA_N	7	207	2.4e-69	PFAM
low complexity region	392	403	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000227128

Predicted Effect

probably damaging
Transcript: ENSMUST00000227744
AA Change: D94G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] BORA is an activator of the protein kinase Aurora A (AURKA; MIM 603072), which is required for centrosome maturation, spindle assembly, and asymmetric protein localization during mitosis (Hutterer et al., 2006 [PubMed 16890155]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,328,000		probably null	Het
Acsbg2	T	C	17: 56,868,459		probably benign	Het
Ap3b1	T	C	13: 94,462,403	V495A	probably benign	Het
Astn1	T	C	1: 158,511,154		probably benign	Het
Bpifb9b	G	T	2: 154,313,624	V348L	possibly damaging	Het
Cd160	A	T	3: 96,808,823	I17N	possibly damaging	Het
Cyp2d11	A	C	15: 82,390,064	I372S	probably damaging	Het
Dennd2c	T	A	3: 103,137,243	V380D	probably damaging	Het
Fat4	C	T	3: 38,982,939	A3580V	probably benign	Het
Filip1	A	G	9: 79,818,266	S1024P	probably benign	Het
Flnc	G	A	6: 29,447,512	E1105K	probably damaging	Het
Gbp4	T	A	5: 105,121,042	E415V	probably benign	Het
Gdap1l1	T	A	2: 163,453,668	F224Y	probably damaging	Het
Gm11146	A	T	16: 77,588,610		probably null	Het
Gsn	G	T	2: 35,302,495	R485L	probably damaging	Het
Havcr1	A	G	11: 46,775,493	Y261C	probably damaging	Het
Maneal	A	T	4: 124,859,167	I229N	probably benign	Het
Med24	A	T	11: 98,728,835	M27K	probably benign	Het
Nipsnap2	T	A	5: 129,747,992		probably benign	Het
Noa1	T	A	5: 77,307,579	Q430L	probably benign	Het
Olfr1099	T	C	2: 86,959,183	I92V	probably benign	Het
Olfr365	C	A	2: 37,201,269	S9R	possibly damaging	Het
Olfr74	T	A	2: 87,974,410	N85I	probably benign	Het
Olfr834	T	C	9: 18,988,612	V208A	probably benign	Het
Pde3a	T	A	6: 141,459,803	S460R	probably damaging	Het
Pdzd8	T	C	19: 59,300,490	Q826R	possibly damaging	Het
Pfkfb4	C	T	9: 109,025,110	R351W	probably damaging	Het
Pikfyve	T	A	1: 65,272,571	I1989N	probably damaging	Het
Poldip2	T	A	11: 78,517,908	F200I	probably damaging	Het
Prodh2	T	C	7: 30,506,504	V208A	probably damaging	Het
Ranbp10	T	C	8: 105,827,003	D89G	probably damaging	Het
Rbm33	T	A	5: 28,339,017	S90R	probably damaging	Het
Slc44a4	A	C	17: 34,928,661	D441A	probably damaging	Het
Slc4a10	A	T	2: 62,228,670	I174F	probably damaging	Het
Smim17	T	C	7: 6,427,161		probably benign	Het
Tln1	T	C	4: 43,546,760	E872G	probably damaging	Het
Tmem214	G	A	5: 30,872,746	A296T	probably benign	Het
Top2b	T	C	14: 16,406,733	L625S	probably damaging	Het
Vmn2r59	A	G	7: 42,046,169	V273A	probably benign	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Whrn	T	G	4: 63,435,487	K348Q	probably damaging	Het
Zc3h14	T	C	12: 98,763,895	V399A	probably benign	Het

Other mutations in Bora

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02111:Bora	APN	14	99047377	missense	probably damaging	1.00
IGL02129:Bora	APN	14	99056821	critical splice donor site	probably null
IGL02171:Bora	APN	14	99047322	missense	probably damaging	1.00
IGL03338:Bora	APN	14	99072742	missense	probably damaging	1.00
R0504:Bora	UTSW	14	99061623	nonsense	probably null
R1598:Bora	UTSW	14	99068404	missense	probably benign
R2070:Bora	UTSW	14	99062278	missense	probably damaging	1.00
R2071:Bora	UTSW	14	99062278	missense	probably damaging	1.00
R4521:Bora	UTSW	14	99068548	missense	probably damaging	0.99
R4861:Bora	UTSW	14	99047474	splice site	probably null
R4881:Bora	UTSW	14	99061567	missense	probably damaging	1.00
R4982:Bora	UTSW	14	99047352	missense	probably damaging	1.00
R5341:Bora	UTSW	14	99068094	missense	probably damaging	1.00
R5378:Bora	UTSW	14	99068493	missense	probably damaging	1.00
R5913:Bora	UTSW	14	99068512	missense	probably benign	0.02
R6082:Bora	UTSW	14	99062294	missense	possibly damaging	0.88
R6083:Bora	UTSW	14	99062294	missense	possibly damaging	0.88
R6084:Bora	UTSW	14	99062294	missense	possibly damaging	0.88
R6085:Bora	UTSW	14	99062294	missense	possibly damaging	0.88
R6086:Bora	UTSW	14	99062294	missense	possibly damaging	0.88
R6269:Bora	UTSW	14	99073667	missense	probably damaging	0.99
R7354:Bora	UTSW	14	99047358	missense	probably damaging	1.00
R7794:Bora	UTSW	14	99072644	missense	possibly damaging	0.50
R8299:Bora	UTSW	14	99068134	missense	probably benign	0.35

Posted On

2015-04-16