Mutagenetix > Incidental Mutation

Incidental Mutation 'R5244:Bbof1'

401074

Institutional Source

Beutler Lab

Gene Symbol

Bbof1

Ensembl Gene

ENSMUSG00000057265

Gene Name

basal body orientation factor 1

Synonyms

2900006K08Rik, Ccdc176

MMRRC Submission

042815-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R5244 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84455243-84488279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 84476847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 492 (E492A)

Ref Sequence

ENSEMBL: ENSMUSP00000080512 (fasta)

Gene Model

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

AlphaFold

Q3V079

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081828
AA Change: E492A

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000080512
Gene: ENSMUSG00000057265
AA Change: E492A

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

Meta Mutation Damage Score

0.1067

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	G	T	9: 53,323,098 (GRCm39)	G45W	probably damaging	Het
Abca13	C	T	11: 9,225,081 (GRCm39)	T520I	probably benign	Het
Adamtsl3	C	T	7: 82,247,277 (GRCm39)	P485L	probably benign	Het
Capn11	T	C	17: 45,944,818 (GRCm39)	E483G	probably damaging	Het
Cbs	C	T	17: 31,836,134 (GRCm39)	G438D	probably damaging	Het
Chil6	A	G	3: 106,297,290 (GRCm39)	Y284H	probably damaging	Het
Cops4	C	A	5: 100,681,241 (GRCm39)	Q131K	probably benign	Het
Cul4a	T	C	8: 13,196,566 (GRCm39)	I740T	probably damaging	Het
Cyfip1	C	T	7: 55,574,947 (GRCm39)	T1066I	probably damaging	Het
Dnah7b	T	C	1: 46,273,018 (GRCm39)	L2382P	probably damaging	Het
Ehd3	A	T	17: 74,136,995 (GRCm39)	H388L	probably benign	Het
Fam13a	G	T	6: 58,930,459 (GRCm39)	Y484*	probably null	Het
Gm5117	A	G	8: 32,228,305 (GRCm39)		noncoding transcript	Het
Gulp1	G	A	1: 44,827,613 (GRCm39)	D260N	probably damaging	Het
Hhipl1	T	A	12: 108,278,393 (GRCm39)	N240K	probably damaging	Het
Hydin	A	T	8: 111,259,451 (GRCm39)	E2474D	possibly damaging	Het
Ifi207	C	T	1: 173,557,503 (GRCm39)	V412I	probably benign	Het
Ighv9-4	T	C	12: 114,263,871 (GRCm39)	I21V	probably benign	Het
Kcnh1	A	T	1: 191,907,184 (GRCm39)	T79S	probably benign	Het
Kpna6	A	G	4: 129,549,221 (GRCm39)		probably null	Het
Lnpk	C	T	2: 74,362,232 (GRCm39)	G262D	probably damaging	Het
Lsm7	T	C	10: 80,688,907 (GRCm39)	E66G	probably benign	Het
Mbd3l1	T	A	9: 18,395,933 (GRCm39)	C19*	probably null	Het
Mfsd6l	T	A	11: 68,448,001 (GRCm39)	L284Q	possibly damaging	Het
Naip5	C	T	13: 100,382,170 (GRCm39)	V180I	probably benign	Het
Or2ag1b	T	A	7: 106,288,396 (GRCm39)	I181F	probably benign	Het
Or2j6	A	T	7: 139,980,051 (GRCm39)	C303S	probably benign	Het
Or4k39	T	A	2: 111,238,899 (GRCm39)		noncoding transcript	Het
Or6d13	T	A	6: 116,518,187 (GRCm39)	Y258N	probably damaging	Het
Or7g22	A	T	9: 19,049,147 (GRCm39)	N286I	probably damaging	Het
Or8g20	T	G	9: 39,395,808 (GRCm39)	H247P	probably damaging	Het
Or8u10	C	G	2: 85,915,300 (GRCm39)	A274P	probably damaging	Het
Pck1	T	A	2: 172,996,656 (GRCm39)	I190N	possibly damaging	Het
Pfkfb3	T	A	2: 11,489,660 (GRCm39)	I209F	probably damaging	Het
Phc1	A	G	6: 122,298,938 (GRCm39)	S677P	probably damaging	Het
Pirb	G	A	7: 3,719,062 (GRCm39)	A609V	probably benign	Het
Plag1	A	T	4: 3,903,887 (GRCm39)	S435T	probably benign	Het
Plscr2	C	G	9: 92,173,102 (GRCm39)	L215V	probably benign	Het
Pnma8a	A	G	7: 16,695,248 (GRCm39)	S368G	probably damaging	Het
Polr2b	A	G	5: 77,490,847 (GRCm39)		probably benign	Het
Pthlh	T	C	6: 147,158,651 (GRCm39)	Y103C	probably damaging	Het
Ptprq	A	G	10: 107,422,556 (GRCm39)	V1612A	possibly damaging	Het
Rprd2	T	A	3: 95,697,494 (GRCm39)	I85L	possibly damaging	Het
Slc27a2	T	C	2: 126,420,775 (GRCm39)	V422A	probably benign	Het
Slc29a1	T	C	17: 45,899,339 (GRCm39)		probably benign	Het
Slc36a4	A	T	9: 15,645,574 (GRCm39)	I334F	probably benign	Het
Slc4a10	T	A	2: 62,119,069 (GRCm39)	S761R	probably damaging	Het
Spa17	T	A	9: 37,523,285 (GRCm39)	M1L	probably damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Stk19	A	G	17: 35,051,046 (GRCm39)	L72P	probably damaging	Het
Trhde	T	C	10: 114,636,986 (GRCm39)	M74V	probably benign	Het
Trim37	C	T	11: 87,109,083 (GRCm39)	H937Y	probably benign	Het
Ttc7b	A	G	12: 100,314,269 (GRCm39)	L46P	probably damaging	Het
Ttll4	T	C	1: 74,735,607 (GRCm39)	V1005A	probably benign	Het
Ugt2b36	T	C	5: 87,239,765 (GRCm39)	T207A	probably damaging	Het
Unc13c	C	T	9: 73,433,233 (GRCm39)		probably null	Het
Vmn1r221	T	C	13: 23,401,808 (GRCm39)		noncoding transcript	Het
Vmn2r101	T	C	17: 19,831,788 (GRCm39)	S595P	probably damaging	Het
Wnt10a	T	C	1: 74,842,454 (GRCm39)	L310P	probably damaging	Het
Yif1b	G	A	7: 28,943,866 (GRCm39)	A115T	probably damaging	Het
Zfp219	C	A	14: 52,245,999 (GRCm39)	R331L	possibly damaging	Het

Other mutations in Bbof1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01509:Bbof1	APN	12	84,457,859 (GRCm39)	missense	possibly damaging	0.92
IGL02572:Bbof1	APN	12	84,475,139 (GRCm39)	missense	probably damaging	1.00
IGL02933:Bbof1	APN	12	84,473,740 (GRCm39)	missense	probably damaging	1.00
IGL03099:Bbof1	APN	12	84,473,539 (GRCm39)	nonsense	probably null
P4717OSA:Bbof1	UTSW	12	84,473,734 (GRCm39)	missense	probably damaging	1.00
R0100:Bbof1	UTSW	12	84,457,829 (GRCm39)	missense	probably benign	0.00
R0100:Bbof1	UTSW	12	84,457,829 (GRCm39)	missense	probably benign	0.00
R0230:Bbof1	UTSW	12	84,471,978 (GRCm39)	missense	probably damaging	1.00
R0511:Bbof1	UTSW	12	84,477,045 (GRCm39)	missense	probably benign	0.02
R1506:Bbof1	UTSW	12	84,470,273 (GRCm39)	missense	probably damaging	0.97
R1920:Bbof1	UTSW	12	84,457,859 (GRCm39)	missense	possibly damaging	0.92
R2097:Bbof1	UTSW	12	84,460,081 (GRCm39)	missense	probably damaging	1.00
R2355:Bbof1	UTSW	12	84,470,223 (GRCm39)	missense	probably damaging	1.00
R3935:Bbof1	UTSW	12	84,457,984 (GRCm39)	missense	probably damaging	1.00
R4210:Bbof1	UTSW	12	84,455,957 (GRCm39)	start codon destroyed	probably null
R4321:Bbof1	UTSW	12	84,473,902 (GRCm39)	nonsense	probably null
R5001:Bbof1	UTSW	12	84,473,630 (GRCm39)	missense	possibly damaging	0.80
R5033:Bbof1	UTSW	12	84,458,044 (GRCm39)	splice site	probably null
R6169:Bbof1	UTSW	12	84,473,588 (GRCm39)	missense	probably benign	0.02
R6295:Bbof1	UTSW	12	84,457,942 (GRCm39)	missense	possibly damaging	0.58
R7073:Bbof1	UTSW	12	84,473,609 (GRCm39)	missense	probably damaging	1.00
R7895:Bbof1	UTSW	12	84,466,763 (GRCm39)	missense	probably damaging	0.98
R8050:Bbof1	UTSW	12	84,457,991 (GRCm39)	missense	probably benign	0.01
R8163:Bbof1	UTSW	12	84,473,536 (GRCm39)	missense	possibly damaging	0.93
R8398:Bbof1	UTSW	12	84,475,188 (GRCm39)	missense	probably damaging	1.00
R8796:Bbof1	UTSW	12	84,460,068 (GRCm39)	missense	possibly damaging	0.80
R9352:Bbof1	UTSW	12	84,461,394 (GRCm39)	missense	probably benign	0.44
X0019:Bbof1	UTSW	12	84,473,567 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTGCCCACGAATACCTTTGTTATG -3'
(R):5'- AGTCTGATACTGGCGCTTGC -3'

Sequencing Primer
(F):5'- TCGCATCTGTGTTTATAAGATGC -3'
(R):5'- GGTGATGAAGGTTTGATCTAGAAG -3'

Posted On

2016-07-06