Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02572:Bbof1'

299052

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bbof1

Ensembl Gene

ENSMUSG00000057265

Gene Name

basal body orientation factor 1

Synonyms

2900006K08Rik, Ccdc176

Accession Numbers

Essential gene?

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

Stock #

IGL02572

Quality Score

Status

Chromosome

Chromosomal Location

84455243-84488279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84475139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 443 (D443N)

Ref Sequence

ENSEMBL: ENSMUSP00000080512 (fasta)

Gene Model

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

AlphaFold

Q3V079

Predicted Effect

probably damaging
Transcript: ENSMUST00000081828
AA Change: D443N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080512
Gene: ENSMUSG00000057265
AA Change: D443N

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
AA Change: D129N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115708
Gene: ENSMUSG00000057265
AA Change: D129N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000153540
AA Change: G107E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114625
Gene: ENSMUSG00000057265
AA Change: G107E

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630001G21Rik	T	C	1: 85,652,892 (GRCm39)	N92S	probably damaging	Het
Abca2	T	C	2: 25,323,329 (GRCm39)	L99P	possibly damaging	Het
Adam19	T	A	11: 46,022,548 (GRCm39)	Y500*	probably null	Het
Amy1	A	T	3: 113,358,722 (GRCm39)		probably benign	Het
Aox3	T	C	1: 58,197,526 (GRCm39)	I624T	probably damaging	Het
Atad3a	C	T	4: 155,838,041 (GRCm39)	D244N	possibly damaging	Het
Atp5mf	C	A	5: 145,124,047 (GRCm39)		probably benign	Het
Bod1l	G	A	5: 41,978,573 (GRCm39)	Q914*	probably null	Het
C330011M18Rik	A	G	8: 84,793,208 (GRCm39)		probably benign	Het
Cgref1	A	G	5: 31,090,911 (GRCm39)	V301A	probably benign	Het
Coa6	T	C	8: 127,149,480 (GRCm39)	Y19H	probably damaging	Het
Cop1	T	A	1: 159,136,448 (GRCm39)		probably benign	Het
Dmrta1	T	C	4: 89,579,795 (GRCm39)	S252P	probably benign	Het
Dnaaf5	T	G	5: 139,170,384 (GRCm39)	S484A	probably benign	Het
Dspp	A	T	5: 104,324,935 (GRCm39)	S433C	probably damaging	Het
Efcab5	G	A	11: 77,028,714 (GRCm39)	R206*	probably null	Het
Epop	A	T	11: 97,519,027 (GRCm39)	S361T	probably benign	Het
Fat3	T	A	9: 15,871,802 (GRCm39)	T3530S	probably benign	Het
Flvcr1	A	G	1: 190,757,843 (GRCm39)	Y108H	probably damaging	Het
Fsip2	T	G	2: 82,822,347 (GRCm39)	S6027A	probably benign	Het
Galnt14	A	G	17: 73,842,262 (GRCm39)	L209P	probably damaging	Het
Hif3a	C	A	7: 16,784,513 (GRCm39)	R25L	probably null	Het
Hsf5	A	G	11: 87,522,521 (GRCm39)		probably benign	Het
Il22ra2	A	T	10: 19,502,492 (GRCm39)	T104S	probably benign	Het
Klrk1	A	G	6: 129,592,316 (GRCm39)	S138P	probably damaging	Het
Lrp5	G	T	19: 3,664,283 (GRCm39)	Q815K	probably benign	Het
Morn4	A	G	19: 42,064,886 (GRCm39)		probably benign	Het
Nlrp14	T	A	7: 106,781,929 (GRCm39)	Y375*	probably null	Het
Nsd1	T	A	13: 55,443,943 (GRCm39)	M1714K	probably damaging	Het
Or2aj6	T	A	16: 19,443,848 (GRCm39)	M1L	probably benign	Het
Or5aq7	G	A	2: 86,938,710 (GRCm39)	T7I	possibly damaging	Het
Or6c213	T	A	10: 129,574,735 (GRCm39)	D17V	possibly damaging	Het
Pappa2	C	T	1: 158,678,786 (GRCm39)	A877T	probably benign	Het
Pcsk2	G	A	2: 143,532,262 (GRCm39)	A137T	probably damaging	Het
Piezo1	A	G	8: 123,212,044 (GRCm39)	V2054A	probably benign	Het
Rad52	A	G	6: 119,892,188 (GRCm39)		probably benign	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rusf1	A	T	7: 127,889,752 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,519,740 (GRCm39)		probably benign	Het
Scrn1	C	T	6: 54,489,186 (GRCm39)	D312N	probably benign	Het
Sin3b	A	G	8: 73,471,109 (GRCm39)	Q352R	probably benign	Het
Slc25a28	A	G	19: 43,652,885 (GRCm39)	Y259H	probably damaging	Het
Sppl2a	T	C	2: 126,768,216 (GRCm39)	M151V	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stra8	G	A	6: 34,916,094 (GRCm39)	D280N	probably damaging	Het
Thbs2	A	T	17: 14,897,275 (GRCm39)	D744E	possibly damaging	Het
Tiparp	A	G	3: 65,439,310 (GRCm39)	T27A	probably benign	Het
Tmem38a	T	C	8: 73,333,818 (GRCm39)	F99S	probably damaging	Het
Tmod3	T	C	9: 75,416,667 (GRCm39)	T222A	probably benign	Het
Tnn	A	G	1: 159,913,677 (GRCm39)	I1272T	probably damaging	Het
Tnpo1	A	T	13: 98,985,667 (GRCm39)	I829N	probably damaging	Het
Trpm5	A	T	7: 142,641,613 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,598,215 (GRCm39)	V19566A	probably damaging	Het
V1ra8	A	G	6: 90,180,040 (GRCm39)	D81G	probably damaging	Het
Zdhhc20	A	G	14: 58,127,564 (GRCm39)	V25A	probably benign	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
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
R5244:Bbof1	UTSW	12	84,476,847 (GRCm39)	missense	possibly damaging	0.56
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

Posted On

2015-04-16