Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03195:Boc'

412778

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Boc

Ensembl Gene

ENSMUSG00000022687

Gene Name

biregional cell adhesion molecule-related/down-regulated by oncogenes (Cdon) binding protein

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03195

Quality Score

Status

Chromosome

Chromosomal Location

44485049-44558897 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44492821 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 560 (F560S)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114634]

Predicted Effect

probably damaging
Transcript: ENSMUST00000023370
AA Change: F560S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023370
Gene: ENSMUSG00000022687
AA Change: F560S

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IGc2	43	108	4.36e-4	SMART
IG	130	217	8.99e-6	SMART
IGc2	238	301	3.94e-11	SMART
IGc2	330	393	1.46e-14	SMART
low complexity region	423	433	N/A	INTRINSIC
FN3	467	553	1.14e-5	SMART
FN3	601	685	3.53e-11	SMART
FN3	707	794	4.25e-5	SMART
low complexity region	813	829	N/A	INTRINSIC
transmembrane domain	851	873	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114634
AA Change: F560S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110281
Gene: ENSMUSG00000022687
AA Change: F560S

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IGc2	43	108	4.36e-4	SMART
IG	130	217	8.99e-6	SMART
IGc2	238	301	3.94e-11	SMART
IGc2	330	393	1.46e-14	SMART
low complexity region	423	433	N/A	INTRINSIC
FN3	467	553	1.14e-5	SMART
FN3	601	685	3.53e-11	SMART
FN3	707	794	4.25e-5	SMART
low complexity region	813	829	N/A	INTRINSIC
transmembrane domain	851	873	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the immunoglobulin/fibronectin type III repeat family. It is a component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells, and promotes myogenic differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a null mutation display abnormal commissural axon projections. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,853,607	D1086G	possibly damaging	Het
Ahcyl2	T	C	6: 29,906,769		probably benign	Het
Ankrd42	T	A	7: 92,591,858	Q431L	probably benign	Het
Arhgap12	A	T	18: 6,031,766	F592I	probably damaging	Het
Arhgef28	A	G	13: 97,951,563		probably null	Het
Ccdc81	A	T	7: 89,896,708	V96E	probably benign	Het
Cep162	C	T	9: 87,225,786	S517N	probably benign	Het
Cntnap5a	A	G	1: 116,157,448	N372S	probably benign	Het
Dnah7a	G	A	1: 53,419,607	R3791C	probably damaging	Het
Fdxr	T	C	11: 115,276,092	Q57R	probably benign	Het
G3bp2	A	G	5: 92,068,508		probably benign	Het
Gm595	T	A	X: 48,872,948	Q296L	possibly damaging	Het
Hmcn1	G	A	1: 150,802,909	T487I	probably benign	Het
Kpna7	A	T	5: 144,997,037	I282N	probably damaging	Het
Lif	A	T	11: 4,269,201	Y160F	probably damaging	Het
Lrp1b	A	T	2: 41,471,122	D556E	possibly damaging	Het
Myom2	G	T	8: 15,111,844	E954*	probably null	Het
Nr6a1	A	T	2: 38,742,936	I171N	probably damaging	Het
Nup210	C	A	6: 91,015,850	R1059L	probably benign	Het
Olfr1109	A	T	2: 87,092,569	V276E	probably damaging	Het
Olfr225	G	A	11: 59,613,803	V280M	probably damaging	Het
Olfr698	A	G	7: 106,752,773	I205T	probably benign	Het
Olfr743	A	G	14: 50,533,420	T3A	probably benign	Het
Olfr987	A	T	2: 85,331,520	I126N	probably damaging	Het
Ostm1	T	C	10: 42,698,217	V302A	probably damaging	Het
Oxct1	A	G	15: 4,101,189	M388V	possibly damaging	Het
Ppp6r2	G	A	15: 89,268,555	V300I	possibly damaging	Het
Prmt1	T	C	7: 44,977,571	Y205C	probably damaging	Het
Slc45a4	A	C	15: 73,584,423	V636G	possibly damaging	Het
Spata18	T	A	5: 73,671,248	L270Q	probably damaging	Het
Stard9	G	A	2: 120,705,802	D4151N	probably damaging	Het
Thsd7b	G	A	1: 129,628,909	C334Y	probably damaging	Het
Tmtc3	C	T	10: 100,459,034	V406M	probably benign	Het
Trpc5	T	A	X: 144,382,728	M900L	probably benign	Het
Ttc9c	T	C	19: 8,815,980	K99E	probably benign	Het
Vmn1r73	A	G	7: 11,757,080	E275G	probably damaging	Het

Other mutations in Boc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00799:Boc	APN	16	44492955	missense	probably benign	0.00
IGL00981:Boc	APN	16	44491801	missense	probably damaging	0.99
IGL01820:Boc	APN	16	44491872	missense	possibly damaging	0.88
IGL03114:Boc	APN	16	44486752	missense	probably benign	0.38
R0006:Boc	UTSW	16	44496449	missense	probably benign	0.41
R0142:Boc	UTSW	16	44490241	missense	probably damaging	1.00
R0417:Boc	UTSW	16	44520234	missense	probably benign	0.16
R1066:Boc	UTSW	16	44490684	critical splice acceptor site	probably null
R1248:Boc	UTSW	16	44520473	missense	probably benign	0.03
R1438:Boc	UTSW	16	44488746	splice site	probably null
R1506:Boc	UTSW	16	44503565	missense	probably damaging	1.00
R1729:Boc	UTSW	16	44496419	missense	probably benign	0.00
R1784:Boc	UTSW	16	44496419	missense	probably benign	0.00
R2004:Boc	UTSW	16	44501644	critical splice donor site	probably null
R2441:Boc	UTSW	16	44488623	missense	probably damaging	1.00
R2863:Boc	UTSW	16	44492960	missense	probably benign	0.03
R3885:Boc	UTSW	16	44487613	splice site	probably benign
R4201:Boc	UTSW	16	44490618	missense	probably damaging	1.00
R4239:Boc	UTSW	16	44491884	missense	probably damaging	1.00
R4382:Boc	UTSW	16	44491182	missense	probably damaging	1.00
R4384:Boc	UTSW	16	44491182	missense	probably damaging	1.00
R4385:Boc	UTSW	16	44491182	missense	probably damaging	1.00
R4684:Boc	UTSW	16	44500380	missense	probably benign	0.07
R4776:Boc	UTSW	16	44487721	missense	probably damaging	0.99
R4788:Boc	UTSW	16	44500433	missense	probably damaging	1.00
R4830:Boc	UTSW	16	44490157	missense	probably damaging	1.00
R5000:Boc	UTSW	16	44490154	missense	probably damaging	1.00
R5567:Boc	UTSW	16	44492824	missense	probably damaging	1.00
R5570:Boc	UTSW	16	44492824	missense	probably damaging	1.00
R5645:Boc	UTSW	16	44499661	missense	probably damaging	0.99
R5651:Boc	UTSW	16	44521195	missense	probably benign	0.00
R5881:Boc	UTSW	16	44490651	missense	probably damaging	1.00
R6021:Boc	UTSW	16	44488654	missense	probably benign	0.00
R6085:Boc	UTSW	16	44488607	missense	probably damaging	1.00
R6188:Boc	UTSW	16	44499548	missense	possibly damaging	0.67
R6295:Boc	UTSW	16	44492348	missense	probably benign	0.05
R6366:Boc	UTSW	16	44487652	missense	probably benign	0.04
R6626:Boc	UTSW	16	44520440	missense	possibly damaging	0.47
R6629:Boc	UTSW	16	44492361	missense	probably benign	0.11
R6707:Boc	UTSW	16	44500616	missense	possibly damaging	0.71
R6819:Boc	UTSW	16	44492825	missense	probably damaging	0.99
R6904:Boc	UTSW	16	44491791	missense	probably damaging	1.00
R7260:Boc	UTSW	16	44490170	missense
R7353:Boc	UTSW	16	44485737	missense	unknown
R7458:Boc	UTSW	16	44486756	missense
R7671:Boc	UTSW	16	44491849	missense
R8283:Boc	UTSW	16	44520437	missense	noncoding transcript
RF028:Boc	UTSW	16	44496433	frame shift	probably null

Posted On

2016-08-02