Mutagenetix > Incidental Mutation

Incidental Mutation 'R6269:Bora'

507247

Institutional Source

Beutler Lab

Gene Symbol

Bora

Ensembl Gene

ENSMUSG00000022070

Gene Name

bora, aurora kinase A activator

Synonyms

6720463M24Rik

MMRRC Submission

044440-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.919) question?

Stock #

R6269 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99283880-99311976 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99311103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 512 (C512R)

Ref Sequence

ENSEMBL: ENSMUSP00000022656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022656] [ENSMUST00000042471] [ENSMUST00000227022] [ENSMUST00000227744] [ENSMUST00000228643]

AlphaFold

Q8BS90

Predicted Effect

probably damaging
Transcript: ENSMUST00000022656
AA Change: C512R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022656
Gene: ENSMUSG00000022070
AA Change: C512R

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: ENSMUST00000042471

SMART Domains

Protein: ENSMUSP00000041906
Gene: ENSMUSG00000033166

Domain	Start	End	E-Value	Type
low complexity region	30	47	N/A	INTRINSIC
PINc	64	182	2.8e-24	SMART
low complexity region	425	436	N/A	INTRINSIC
RNB	467	797	5.56e-141	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000227022

Predicted Effect

probably benign
Transcript: ENSMUST00000227744

Predicted Effect

probably benign
Transcript: ENSMUST00000228643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228756

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,941,033 (GRCm39)	I609N	unknown	Het
Ano10	A	T	9: 122,090,308 (GRCm39)	I277N	probably damaging	Het
Ap2b1	A	G	11: 83,237,499 (GRCm39)	D483G	probably damaging	Het
As3mt	T	A	19: 46,708,391 (GRCm39)	F226Y	probably damaging	Het
Atp10a	G	A	7: 58,453,487 (GRCm39)	R855H	possibly damaging	Het
Bin3	T	A	14: 70,374,611 (GRCm39)	H213Q	probably benign	Het
Camk2b	T	A	11: 5,928,497 (GRCm39)	D414V	probably damaging	Het
Ccdc27	A	T	4: 154,122,179 (GRCm39)	L233Q	unknown	Het
Ccdc73	T	C	2: 104,737,978 (GRCm39)	S25P	probably damaging	Het
Cenpf	G	A	1: 189,392,117 (GRCm39)	H572Y	probably benign	Het
Chil4	A	G	3: 106,111,487 (GRCm39)	V209A	probably damaging	Het
Clstn1	T	C	4: 149,728,524 (GRCm39)	V650A	probably benign	Het
Cox6a2	T	A	7: 127,805,437 (GRCm39)	S11C	probably benign	Het
Csf1	T	C	3: 107,656,317 (GRCm39)	E238G	probably benign	Het
Cyp2c23	T	A	19: 44,017,626 (GRCm39)	M1L	unknown	Het
Cyp4a10	T	A	4: 115,381,509 (GRCm39)	M191K	probably damaging	Het
Cyp4a14	A	G	4: 115,348,328 (GRCm39)	V383A	possibly damaging	Het
D130052B06Rik	T	G	11: 33,573,916 (GRCm39)	V171G	possibly damaging	Het
Dlgap2	A	G	8: 14,872,369 (GRCm39)	T617A	probably benign	Het
Dyrk4	T	A	6: 126,863,690 (GRCm39)	I351F	probably damaging	Het
Epg5	T	C	18: 77,991,585 (GRCm39)	V94A	probably benign	Het
Fam111a	A	G	19: 12,565,807 (GRCm39)	T519A	probably benign	Het
Gdpd4	A	G	7: 97,623,669 (GRCm39)	S314G	probably damaging	Het
Gm9758	T	A	5: 14,962,274 (GRCm39)	K111N	possibly damaging	Het
Gpr137b	A	T	13: 13,538,096 (GRCm39)	V285E	probably damaging	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Itgal	T	A	7: 126,929,389 (GRCm39)	L1102Q	probably null	Het
Kctd19	T	A	8: 106,121,992 (GRCm39)	Y185F	possibly damaging	Het
Kif5b	A	G	18: 6,223,558 (GRCm39)	L317P	possibly damaging	Het
Klhl42	C	A	6: 146,993,805 (GRCm39)	A259E	probably damaging	Het
Lrrc2	A	G	9: 110,810,017 (GRCm39)	D351G	probably damaging	Het
Med12l	A	G	3: 59,135,243 (GRCm39)	E797G	probably damaging	Het
Mink1	A	G	11: 70,489,813 (GRCm39)	E63G	probably damaging	Het
Nek9	T	C	12: 85,379,103 (GRCm39)		probably null	Het
Or12e8	A	T	2: 87,677,218 (GRCm39)	H201L	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Parp6	G	A	9: 59,557,295 (GRCm39)	V627I	probably benign	Het
Pclo	C	T	5: 14,572,108 (GRCm39)	Q498*	probably null	Het
Pdlim5	T	C	3: 142,018,086 (GRCm39)	T170A	possibly damaging	Het
Pgap1	A	T	1: 54,587,167 (GRCm39)	Y136*	probably null	Het
Pgghg	T	A	7: 140,526,097 (GRCm39)	N563K	probably damaging	Het
Plxnb2	A	G	15: 89,044,916 (GRCm39)	M1143T	probably benign	Het
Pnpla1	G	A	17: 29,100,342 (GRCm39)	G403E	probably benign	Het
Prc1	G	A	7: 79,959,175 (GRCm39)	R381Q	probably damaging	Het
Psph	A	T	5: 129,843,529 (GRCm39)	I175N	probably damaging	Het
Rbbp8nl	T	A	2: 179,923,305 (GRCm39)	K131*	probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Sde2	G	A	1: 180,683,371 (GRCm39)	V42I	probably benign	Het
Slc25a3	G	A	10: 90,952,963 (GRCm39)	R314*	probably null	Het
Spag9	A	G	11: 93,935,333 (GRCm39)	N48S	probably benign	Het
Srp54b	T	C	12: 55,302,757 (GRCm39)	M351T	possibly damaging	Het
Tasor2	C	T	13: 3,631,891 (GRCm39)	R870H	possibly damaging	Het
Tcaf2	A	G	6: 42,604,342 (GRCm39)	L679P	probably damaging	Het
Tnrc6b	T	A	15: 80,764,944 (GRCm39)	N815K	probably benign	Het
Usp17la	A	T	7: 104,509,557 (GRCm39)	Q54L	possibly damaging	Het
Vmn2r92	T	A	17: 18,387,036 (GRCm39)	I125K	probably benign	Het
Xrra1	T	C	7: 99,566,679 (GRCm39)	Y732H	probably damaging	Het
Zfp131	A	G	13: 120,227,941 (GRCm39)	S603P	possibly damaging	Het
Zfp28	G	T	7: 6,396,612 (GRCm39)	S349I	probably benign	Het

Other mutations in Bora

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02111:Bora	APN	14	99,284,813 (GRCm39)	missense	probably damaging	1.00
IGL02119:Bora	APN	14	99,290,974 (GRCm39)	missense	probably damaging	1.00
IGL02129:Bora	APN	14	99,294,257 (GRCm39)	critical splice donor site	probably null
IGL02171:Bora	APN	14	99,284,758 (GRCm39)	missense	probably damaging	1.00
IGL03338:Bora	APN	14	99,310,178 (GRCm39)	missense	probably damaging	1.00
R0504:Bora	UTSW	14	99,299,059 (GRCm39)	nonsense	probably null
R1598:Bora	UTSW	14	99,305,840 (GRCm39)	missense	probably benign
R2070:Bora	UTSW	14	99,299,714 (GRCm39)	missense	probably damaging	1.00
R2071:Bora	UTSW	14	99,299,714 (GRCm39)	missense	probably damaging	1.00
R4521:Bora	UTSW	14	99,305,984 (GRCm39)	missense	probably damaging	0.99
R4861:Bora	UTSW	14	99,284,910 (GRCm39)	splice site	probably null
R4881:Bora	UTSW	14	99,299,003 (GRCm39)	missense	probably damaging	1.00
R4982:Bora	UTSW	14	99,284,788 (GRCm39)	missense	probably damaging	1.00
R5341:Bora	UTSW	14	99,305,530 (GRCm39)	missense	probably damaging	1.00
R5378:Bora	UTSW	14	99,305,929 (GRCm39)	missense	probably damaging	1.00
R5913:Bora	UTSW	14	99,305,948 (GRCm39)	missense	probably benign	0.02
R6082:Bora	UTSW	14	99,299,730 (GRCm39)	missense	possibly damaging	0.88
R6083:Bora	UTSW	14	99,299,730 (GRCm39)	missense	possibly damaging	0.88
R6084:Bora	UTSW	14	99,299,730 (GRCm39)	missense	possibly damaging	0.88
R6085:Bora	UTSW	14	99,299,730 (GRCm39)	missense	possibly damaging	0.88
R6086:Bora	UTSW	14	99,299,730 (GRCm39)	missense	possibly damaging	0.88
R7354:Bora	UTSW	14	99,284,794 (GRCm39)	missense	probably damaging	1.00
R7794:Bora	UTSW	14	99,310,080 (GRCm39)	missense	possibly damaging	0.50
R7962:Bora	UTSW	14	99,310,162 (GRCm39)	missense	probably benign	0.01
R8299:Bora	UTSW	14	99,305,570 (GRCm39)	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- TAAGGGAGGGATTCTTTTGAAACAG -3'
(R):5'- TGGAGTTTCTGGTCCTAGCAC -3'

Sequencing Primer
(F):5'- TGTGCTCAGTAAAACACTTGAC -3'
(R):5'- AGCACCAATTTCCTTTGCAG -3'

Posted On

2018-03-15