Mutagenetix > Incidental Mutation

Incidental Mutation 'R2097:Bbof1'

230328

Institutional Source

Beutler Lab

Gene Symbol

Bbof1

Ensembl Gene

ENSMUSG00000057265

Gene Name

basal body orientation factor 1

Synonyms

2900006K08Rik, Ccdc176

MMRRC Submission

040101-MU

Accession Numbers

Essential gene?

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

Stock #

R2097 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84409071-84442887 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 84413307 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 116 (A116D)

Ref Sequence

ENSEMBL: ENSMUSP00000080512 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081828] [ENSMUST00000110272] [ENSMUST00000120942] [ENSMUST00000151789] [ENSMUST00000183146]

AlphaFold

Q3V079

Predicted Effect

probably damaging
Transcript: ENSMUST00000081828
AA Change: A116D

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

SMART Domains

Protein: ENSMUSP00000080512
Gene: ENSMUSG00000057265
AA Change: A116D

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: ENSMUST00000110272

SMART Domains

Protein: ENSMUSP00000105901
Gene: ENSMUSG00000021236

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:GDA1_CD39	41	426	3.5e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120942

SMART Domains

Protein: ENSMUSP00000112516
Gene: ENSMUSG00000021236

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:GDA1_CD39	41	426	3.5e-76	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136511

Predicted Effect

unknown
Transcript: ENSMUST00000151789
AA Change: A15D

SMART Domains

Protein: ENSMUSP00000115708
Gene: ENSMUSG00000057265
AA Change: A15D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000183146

SMART Domains

Protein: ENSMUSP00000138536
Gene: ENSMUSG00000098134

Domain	Start	End	E-Value	Type
low complexity region	39	52	N/A	INTRINSIC
ZnF_C3H1	196	223	1.8e-7	SMART
RING	262	299	4.05e-5	SMART

Meta Mutation Damage Score

0.1606

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	T	7: 131,181,964	R29*	probably null	Het
Actr8	T	C	14: 29,987,228	V263A	probably damaging	Het
Apol6	T	A	15: 77,047,133		probably null	Het
Aqp3	C	T	4: 41,098,004	V36M	possibly damaging	Het
Bace1	G	T	9: 45,860,222	C478F	probably benign	Het
Casq1	A	T	1: 172,210,421	L381Q	probably damaging	Het
Ccdc138	T	A	10: 58,561,937	L533*	probably null	Het
Cnga1	C	T	5: 72,619,061	V20I	possibly damaging	Het
Cntn6	A	G	6: 104,861,949	E988G	probably damaging	Het
Cts6	T	A	13: 61,195,445	N321Y	probably damaging	Het
Dnmt1	A	G	9: 20,909,788	S1269P	probably benign	Het
Dsg4	C	A	18: 20,471,044	P856H	probably damaging	Het
Fndc3a	C	A	14: 72,574,351		probably null	Het
Galc	T	C	12: 98,252,032	D187G	probably benign	Het
Gfm1	T	C	3: 67,449,746	I384T	probably damaging	Het
Hacd2	A	G	16: 35,048,720	I92V	probably benign	Het
Hmcn2	T	A	2: 31,380,419	Y1223N	probably damaging	Het
Il20ra	T	C	10: 19,759,463	I484T	probably damaging	Het
Map7	G	T	10: 20,246,616	V143F	probably damaging	Het
Mcm3ap	T	C	10: 76,512,489	L1893P	probably damaging	Het
Msh6	A	G	17: 87,985,416	N533S	probably benign	Het
Nbea	T	C	3: 55,723,217	D2233G	probably damaging	Het
Nlrp6	A	T	7: 140,923,204	T408S	probably damaging	Het
Notch3	A	T	17: 32,122,754	L2008Q	probably damaging	Het
Olfr1051	A	T	2: 86,276,039	Y149*	probably null	Het
Olfr603	T	A	7: 103,383,633	D123V	probably damaging	Het
Pggt1b	T	C	18: 46,246,628	N296D	probably benign	Het
Pglyrp3	T	A	3: 92,028,171	F243I	possibly damaging	Het
Phip	T	C	9: 82,915,339	H537R	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptpdc1	T	A	13: 48,592,659		probably null	Het
Ptprq	T	C	10: 107,653,493	T924A	probably benign	Het
Pwp2	C	A	10: 78,177,742		probably benign	Het
Slc7a4	G	T	16: 17,573,455		probably null	Het
Tmem132b	T	A	5: 125,638,208	I327K	probably damaging	Het
Trim9	T	C	12: 70,347,159	M4V	probably damaging	Het
Tspan13	T	C	12: 36,021,830	S128G	probably benign	Het
Ttc25	T	A	11: 100,563,582	F398I	possibly damaging	Het
Zbtb20	A	G	16: 43,609,519	D131G	probably null	Het
Zeb2	A	T	2: 44,997,156	C615S	probably damaging	Het
Zfp777	C	T	6: 48,044,242	D149N	probably benign	Het
Zfp990	A	G	4: 145,537,322	K297E	possibly damaging	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
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
R6169:Bbof1	UTSW	12	84426814	missense	probably benign	0.02
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
R8050:Bbof1	UTSW	12	84411217	missense	probably benign	0.01
R8163:Bbof1	UTSW	12	84426762	missense	possibly damaging	0.93
R8398:Bbof1	UTSW	12	84428414	missense	probably damaging	1.00
R8796:Bbof1	UTSW	12	84413294	missense	possibly damaging	0.80
R9352:Bbof1	UTSW	12	84414620	missense	probably benign	0.44
X0019:Bbof1	UTSW	12	84426793	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GATTTCAGAAACTGCCAGTAGC -3'
(R):5'- AGGCCTTGTAATGAGGTCATCC -3'

Sequencing Primer
(F):5'- CAGATTAAGTGTATGAGGAAATCCC -3'
(R):5'- GTTAATGACCCAGAGATTGATCCCAG -3'

Posted On

2014-09-18