Mutagenetix > Incidental Mutation

Incidental Mutation 'R5913:Bora'

461142

Institutional Source

Beutler Lab

Gene Symbol

Bora

Ensembl Gene

ENSMUSG00000022070

Gene Name

bora, aurora kinase A activator

Synonyms

6720463M24Rik

MMRRC Submission

044110-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.917) question?

Stock #

R5913 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99046222-99074540 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99068512 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 439 (S439L)

Ref Sequence

ENSEMBL: ENSMUSP00000022656 (fasta)

Gene Model

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

AlphaFold

Q8BS90

Predicted Effect

probably benign
Transcript: ENSMUST00000022656
AA Change: S439L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000022656
Gene: ENSMUSG00000022070
AA Change: S439L

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: ENSMUST00000227744

Meta Mutation Damage Score

0.0863

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

97% (75/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2cl	A	T	9: 110,889,705		probably null	Het
Arhgef19	A	T	4: 141,249,298	H457L	probably benign	Het
Armc3	A	G	2: 19,310,047	Y856C	possibly damaging	Het
Bdp1	A	T	13: 100,051,104	V1585D	probably benign	Het
Bhlhe40	T	G	6: 108,665,193	M366R	possibly damaging	Het
Cacnb4	G	A	2: 52,434,784		probably benign	Het
Carm1	T	C	9: 21,587,552	S529P	probably benign	Het
Cd200r1	A	G	16: 44,789,671	I84M	possibly damaging	Het
Cd209a	A	G	8: 3,748,742	S22P	probably benign	Het
Celf2	A	T	2: 7,081,158	M1K	probably null	Het
Cep112	A	G	11: 108,757,688	T783A	probably damaging	Het
Cep95	T	C	11: 106,818,509		probably benign	Het
Clip4	G	A	17: 71,824,765	R366K	probably benign	Het
Csmd2	A	G	4: 128,551,988	K3284E	probably benign	Het
Csn3	T	A	5: 87,927,611	L12Q	probably damaging	Het
Ctdnep1	T	C	11: 69,988,865	L39P	probably damaging	Het
Cxcl17	C	T	7: 25,402,246	W55*	probably null	Het
Cyp2u1	G	A	3: 131,303,211		probably benign	Het
Dmgdh	A	T	13: 93,752,323	E823V	possibly damaging	Het
Dnah2	T	C	11: 69,448,430	I3078V	probably damaging	Het
Dpp10	A	C	1: 123,384,289	Y446D	probably damaging	Het
Eif2s3y	T	C	Y: 1,017,365	V290A	probably benign	Homo
Fktn	G	A	4: 53,735,035	W224*	probably null	Het
Gm37240	T	C	3: 84,967,598		probably benign	Het
Gm9573	C	T	17: 35,623,231		probably benign	Het
Gpr3	A	G	4: 133,211,178	V61A	probably damaging	Het
Gulo	T	C	14: 66,000,021		probably null	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,997,940		probably benign	Het
Hectd4	T	A	5: 121,323,974	I968K	possibly damaging	Het
Hmox2	G	T	16: 4,764,868	R155L	probably damaging	Het
Ifnlr1	C	A	4: 135,705,269	Q339K	probably damaging	Het
Ifnlr1	A	T	4: 135,705,270	Q339L	probably damaging	Het
Irf4	T	A	13: 30,757,758	S365T	probably benign	Het
Klrb1a	T	G	6: 128,618,509	D124A	probably damaging	Het
Macf1	A	T	4: 123,476,039	I78N	probably damaging	Het
Mctp1	G	T	13: 76,759,825		probably null	Het
Mxra8	A	T	4: 155,843,303		probably null	Het
Nlrp2	T	A	7: 5,324,903		probably null	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
P2ry13	T	C	3: 59,209,365	T331A	probably benign	Het
Padi2	G	A	4: 140,917,641	R62H	probably benign	Het
Pcdhb15	A	T	18: 37,474,654	Q313L	probably benign	Het
Pcdhga11	A	G	18: 37,755,992	I18V	probably benign	Het
Pcdhga11	A	G	18: 37,758,089	R717G	probably benign	Het
Pcif1	C	A	2: 164,884,492		probably benign	Het
Pkd1l1	T	C	11: 8,863,849	T1501A	probably benign	Het
Plekhg2	C	A	7: 28,364,602	R473L	probably damaging	Het
Plekhn1	T	C	4: 156,222,695	Y466C	probably damaging	Het
Sec22c	A	G	9: 121,690,302	S83P	possibly damaging	Het
Sgcz	T	A	8: 37,526,271	Q224L	possibly damaging	Het
Slc27a1	C	T	8: 71,584,263	P381L	probably benign	Het
Slc8a1	T	A	17: 81,648,002	I536F	probably damaging	Het
Src	T	A	2: 157,466,030		probably null	Het
Sybu	T	A	15: 44,787,621	T96S	probably damaging	Het
Tbc1d22a	T	C	15: 86,351,728	Y363H	probably damaging	Het
Tdrd6	T	C	17: 43,628,411	E582G	possibly damaging	Het
Tmem131	C	A	1: 36,819,128	V713L	probably benign	Het
Tnfsf13b	T	A	8: 10,006,988	L49Q	probably damaging	Het
Trem2	T	A	17: 48,346,633		probably benign	Het
Tspyl3	T	A	2: 153,224,716	M201L	probably benign	Het
Ttl	A	G	2: 129,076,041	D141G	probably benign	Het
Ube2z	A	G	11: 96,061,063	V153A	possibly damaging	Het
Ubr3	A	G	2: 70,021,215	Y1842C	probably damaging	Het
Usp33	T	C	3: 152,380,592	V656A	probably damaging	Het
Vmn2r74	G	A	7: 85,951,890	R847C	probably damaging	Het
Vmo1	A	T	11: 70,514,415	V63D	probably damaging	Het
Zcwpw1	T	A	5: 137,800,007	D155E	probably benign	Het
Zeb1	T	G	18: 5,766,765	S425R	possibly damaging	Het

Other mutations in Bora

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02111:Bora	APN	14	99047377	missense	probably damaging	1.00
IGL02119:Bora	APN	14	99053538	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
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
R7962:Bora	UTSW	14	99072726	missense	probably benign	0.01
R8299:Bora	UTSW	14	99068134	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- ACTCTGGTATTGCTGAGAAAGAG -3'
(R):5'- AAAGACAGGTTTGCACAGTTG -3'

Sequencing Primer
(F):5'- CGAGCAGTGCTGGACGATG -3'
(R):5'- GGCTTTGAGTTCACAACGATC -3'

Posted On

2017-02-28