Mutagenetix > Incidental Mutations

Incidental Mutation 'R6169:Bbof1'

490332

Institutional Source

Beutler Lab

Gene Symbol

Bbof1

Ensembl Gene

ENSMUSG00000057265

Gene Name

basal body orientation factor 1

Synonyms

2900006K08Rik, Ccdc176

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R6169 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84409071-84442887 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84426814 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 306 (T306I)

Ref Sequence

ENSEMBL: ENSMUSP00000080512 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081828] [ENSMUST00000085192] [ENSMUST00000151789] [ENSMUST00000153540]

Predicted Effect

probably benign
Transcript: ENSMUST00000081828
AA Change: T306I

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

SMART Domains

Protein: ENSMUSP00000080512
Gene: ENSMUSG00000057265
AA Change: T306I

Domain	Start	End	E-Value	Type
low complexity region	4	29	N/A	INTRINSIC
Pfam:DUF4515	83	276	1.8e-44	PFAM
coiled coil region	277	308	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085192

SMART Domains

Protein: ENSMUSP00000082288
Gene: ENSMUSG00000021238

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
low complexity region	30	36	N/A	INTRINSIC
Pfam:Aldedh	48	512	1.9e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151789

SMART Domains

Protein: ENSMUSP00000115708
Gene: ENSMUSG00000057265

Domain	Start	End	E-Value	Type
Pfam:DUF4515	1	138	6.7e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153540

SMART Domains

Protein: ENSMUSP00000114625
Gene: ENSMUSG00000057265

Domain	Start	End	E-Value	Type
Pfam:DUF4515	1	105	3.9e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000221969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222641

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

94% (67/71)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	C	A	11: 3,938,005	C127F	unknown	Het
9930111J21Rik2	A	T	11: 49,019,261		probably null	Het
Adamts16	A	T	13: 70,770,274	L676*	probably null	Het
Adgrv1	A	T	13: 81,419,259	V5265E	probably benign	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Akap6	T	A	12: 53,142,358	M2185K	probably benign	Het
Ankfy1	G	A	11: 72,754,459	C788Y	probably benign	Het
Ankrd50	A	G	3: 38,455,839	V793A	probably damaging	Het
Arid2	T	A	15: 96,368,677	N535K	probably benign	Het
Atrnl1	A	G	19: 57,642,463	T221A	probably benign	Het
BC005561	T	A	5: 104,518,396	N261K	probably benign	Het
Cabs1	C	T	5: 87,979,754	T88I	possibly damaging	Het
Ccdc60	C	A	5: 116,137,072	A351S	probably benign	Het
Cetn3	A	C	13: 81,791,978	R44S	probably damaging	Het
Cluap1	A	G	16: 3,928,561	K262R	possibly damaging	Het
Cnrip1	G	A	11: 17,054,731	V94I	probably null	Het
Cog6	A	T	3: 53,007,301	S245T	probably benign	Het
Disp2	T	A	2: 118,791,550	V921D	probably damaging	Het
Ep400	T	C	5: 110,741,997	K504E	possibly damaging	Het
Fam189a1	G	A	7: 64,759,399	P416S	probably benign	Het
Fbn1	T	A	2: 125,335,489		probably null	Het
Fyb2	T	C	4: 105,000,516	V630A	probably benign	Het
Gm13088	T	C	4: 143,654,115	Y446C	probably benign	Het
Gm43218	T	A	6: 70,240,622	Y50F	probably benign	Het
Gm5431	T	C	11: 48,888,575	T507A	probably benign	Het
Gucy2e	G	T	11: 69,236,104	A181E	probably benign	Het
Hrnr	C	G	3: 93,325,755	S1100*	probably null	Het
Htt	T	C	5: 34,907,473	V3010A	probably damaging	Het
Ighv1-11	T	C	12: 114,612,298	Y99C	probably damaging	Het
Ighv1-12	T	C	12: 114,615,957	K25E	possibly damaging	Het
Il6ra	A	G	3: 89,871,291	F417S	probably benign	Het
Itgb4	T	C	11: 115,994,276	S994P	probably damaging	Het
Itgbl1	G	A	14: 123,660,378	A24T	probably benign	Het
Itpr1	T	C	6: 108,369,116	F127L	probably damaging	Het
Krt86	A	G	15: 101,476,289	Y243C	probably damaging	Het
Lnx1	A	T	5: 74,677,569	W11R	probably damaging	Het
Mast4	A	G	13: 102,787,421	L302P	probably damaging	Het
Mettl3	A	G	14: 52,298,757	V210A	possibly damaging	Het
Mllt1	T	C	17: 56,899,822	T341A	probably benign	Het
Obscn	T	C	11: 59,000,499	E7069G	unknown	Het
Olfr387-ps1	A	T	11: 73,665,334	T242S	possibly damaging	Het
Olfr547	T	C	7: 102,535,272	I175T	probably benign	Het
Osgep	A	G	14: 50,919,752	V11A	possibly damaging	Het
Oxld1	G	A	11: 120,456,849	A174V	possibly damaging	Het
Pibf1	A	T	14: 99,113,007	E197V	probably null	Het
Pkn1	G	A	8: 83,681,206	Q425*	probably null	Het
Prss35	T	C	9: 86,755,438	I87T	probably benign	Het
Psmc3	T	C	2: 91,057,839	F304S	probably damaging	Het
Psmd11	T	A	11: 80,460,713	M254K	probably damaging	Het
Ralgapa2	T	C	2: 146,450,465	Y218C	probably damaging	Het
Sec23b	C	T	2: 144,586,974	R701C	probably damaging	Het
Slc22a21	A	G	11: 53,958,087	S280P	probably damaging	Het
Slc39a12	T	C	2: 14,400,233	I212T	possibly damaging	Het
Slc7a12	T	C	3: 14,497,328	V255A	probably damaging	Het
Smc3	T	A	19: 53,634,086	N697K	probably benign	Het
Snai1	C	A	2: 167,538,911	P108Q	probably benign	Het
Ssfa2	T	G	2: 79,645,062	I455R	probably damaging	Het
Stim2	T	G	5: 54,118,679	L732R	probably damaging	Het
Syde1	A	G	10: 78,586,104	L597S	probably damaging	Het
Tcte1	T	A	17: 45,535,070	M200K	probably benign	Het
Tenm2	T	A	11: 36,139,690	T761S	probably damaging	Het
Tlr2	C	A	3: 83,838,148	E209D	probably benign	Het
Tpp2	T	C	1: 43,983,579	L33P	probably damaging	Het
Trmt1l	C	A	1: 151,428,953		probably benign	Het
Unc45a	A	C	7: 80,328,763	S646A	possibly damaging	Het
Usp37	A	T	1: 74,495,751	I12N	probably damaging	Het
Vmn2r81	T	C	10: 79,268,548	V335A	probably benign	Het
Wwc2	A	T	8: 47,858,843	S762T	unknown	Het
Yeats2	A	G	16: 20,219,667	K129E	probably damaging	Het
Zscan4-ps2	T	C	7: 11,517,631	V198A	probably benign	Het

Other mutations in Bbof1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01509:Bbof1	APN	12	84411085	missense	possibly damaging	0.92
IGL02572:Bbof1	APN	12	84428365	missense	probably damaging	1.00
IGL02933:Bbof1	APN	12	84426966	missense	probably damaging	1.00
IGL03099:Bbof1	APN	12	84426765	nonsense	probably null
P4717OSA:Bbof1	UTSW	12	84426960	missense	probably damaging	1.00
R0100:Bbof1	UTSW	12	84411055	missense	probably benign	0.00
R0100:Bbof1	UTSW	12	84411055	missense	probably benign	0.00
R0230:Bbof1	UTSW	12	84425204	missense	probably damaging	1.00
R0511:Bbof1	UTSW	12	84430271	missense	probably benign	0.02
R1506:Bbof1	UTSW	12	84423499	missense	probably damaging	0.97
R1920:Bbof1	UTSW	12	84411085	missense	possibly damaging	0.92
R2097:Bbof1	UTSW	12	84413307	missense	probably damaging	1.00
R2355:Bbof1	UTSW	12	84423449	missense	probably damaging	1.00
R3935:Bbof1	UTSW	12	84411210	missense	probably damaging	1.00
R4210:Bbof1	UTSW	12	84409183	start codon destroyed	probably null
R4321:Bbof1	UTSW	12	84427128	nonsense	probably null
R5001:Bbof1	UTSW	12	84426856	missense	possibly damaging	0.80
R5033:Bbof1	UTSW	12	84411270	splice site	probably null
R5244:Bbof1	UTSW	12	84430073	missense	possibly damaging	0.56
R6295:Bbof1	UTSW	12	84411168	missense	possibly damaging	0.58
R7073:Bbof1	UTSW	12	84426835	missense	probably damaging	1.00
R7895:Bbof1	UTSW	12	84419989	missense	probably damaging	0.98
R7978:Bbof1	UTSW	12	84419989	missense	probably damaging	0.98
R8050:Bbof1	UTSW	12	84411217	missense	probably benign	0.01
X0019:Bbof1	UTSW	12	84426793	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCTCAGATCCCCTTAGGTAACAG -3'
(R):5'- GAGAGCGTCTAGAAAGAACTGTTC -3'

Sequencing Primer
(F):5'- CCCCTTAGGTAACAGAAATTATTGAG -3'
(R):5'- GCGTCTAGAAAGAACTGTTCCACTTC -3'

Posted On

2017-10-10