Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00799:Boc'

9286

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Boc

Ensembl Gene

ENSMUSG00000022687

Gene Name

BOC cell adhesion associated, oncogene regulated

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00799

Quality Score

Status

Chromosome

Chromosomal Location

44305408-44379233 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 44313318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 515 (D515E)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000023370
AA Change: D515E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000023370
Gene: ENSMUSG00000022687
AA Change: D515E

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 benign
Transcript: ENSMUST00000114634
AA Change: D515E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110281
Gene: ENSMUSG00000022687
AA Change: D515E

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	A	T	4: 144,281,843 (GRCm39)	H316Q	probably benign	Het
Cenpe	T	A	3: 134,934,678 (GRCm39)		probably null	Het
Ctcf	A	G	8: 106,403,968 (GRCm39)	D608G	unknown	Het
Dab2ip	A	G	2: 35,597,787 (GRCm39)	I99V	probably benign	Het
Ecpas	T	A	4: 58,828,047 (GRCm39)	I981F	possibly damaging	Het
Ehd2	C	T	7: 15,697,392 (GRCm39)	A139T	possibly damaging	Het
Fam151b	C	A	13: 92,614,361 (GRCm39)	K42N	probably damaging	Het
Gapvd1	A	T	2: 34,589,872 (GRCm39)	D1002E	probably benign	Het
Gusb	T	C	5: 130,028,222 (GRCm39)	Y290C	probably damaging	Het
Hoxd10	A	G	2: 74,522,786 (GRCm39)	S155G	probably benign	Het
Hp	A	G	8: 110,302,250 (GRCm39)		probably null	Het
Ift122	T	C	6: 115,854,497 (GRCm39)	S112P	probably damaging	Het
Iqgap2	A	G	13: 95,794,452 (GRCm39)		probably benign	Het
Mtbp	T	A	15: 55,480,904 (GRCm39)	L290*	probably null	Het
Nr5a2	T	A	1: 136,818,536 (GRCm39)	D330V	probably damaging	Het
R3hdm1	T	A	1: 128,102,700 (GRCm39)	L157Q	probably damaging	Het
Rad21	A	T	15: 51,839,521 (GRCm39)	D116E	possibly damaging	Het
Slc23a3	A	T	1: 75,109,925 (GRCm39)	I114N	possibly damaging	Het
Syne1	A	G	10: 5,347,878 (GRCm38)	I1140L	probably benign	Het

Other mutations in Boc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Boc	APN	16	44,312,164 (GRCm39)	missense	probably damaging	0.99
IGL01820:Boc	APN	16	44,312,235 (GRCm39)	missense	possibly damaging	0.88
IGL03114:Boc	APN	16	44,307,115 (GRCm39)	missense	probably benign	0.38
IGL03195:Boc	APN	16	44,313,184 (GRCm39)	missense	probably damaging	0.99
R0006:Boc	UTSW	16	44,316,812 (GRCm39)	missense	probably benign	0.41
R0142:Boc	UTSW	16	44,310,604 (GRCm39)	missense	probably damaging	1.00
R0417:Boc	UTSW	16	44,340,597 (GRCm39)	missense	probably benign	0.16
R1066:Boc	UTSW	16	44,311,047 (GRCm39)	critical splice acceptor site	probably null
R1248:Boc	UTSW	16	44,340,836 (GRCm39)	missense	probably benign	0.03
R1438:Boc	UTSW	16	44,309,109 (GRCm39)	splice site	probably null
R1506:Boc	UTSW	16	44,323,928 (GRCm39)	missense	probably damaging	1.00
R1729:Boc	UTSW	16	44,316,782 (GRCm39)	missense	probably benign	0.00
R1784:Boc	UTSW	16	44,316,782 (GRCm39)	missense	probably benign	0.00
R2004:Boc	UTSW	16	44,322,007 (GRCm39)	critical splice donor site	probably null
R2441:Boc	UTSW	16	44,308,986 (GRCm39)	missense	probably damaging	1.00
R2863:Boc	UTSW	16	44,313,323 (GRCm39)	missense	probably benign	0.03
R3885:Boc	UTSW	16	44,307,976 (GRCm39)	splice site	probably benign
R4201:Boc	UTSW	16	44,310,981 (GRCm39)	missense	probably damaging	1.00
R4239:Boc	UTSW	16	44,312,247 (GRCm39)	missense	probably damaging	1.00
R4382:Boc	UTSW	16	44,311,545 (GRCm39)	missense	probably damaging	1.00
R4384:Boc	UTSW	16	44,311,545 (GRCm39)	missense	probably damaging	1.00
R4385:Boc	UTSW	16	44,311,545 (GRCm39)	missense	probably damaging	1.00
R4684:Boc	UTSW	16	44,320,743 (GRCm39)	missense	probably benign	0.07
R4776:Boc	UTSW	16	44,308,084 (GRCm39)	missense	probably damaging	0.99
R4788:Boc	UTSW	16	44,320,796 (GRCm39)	missense	probably damaging	1.00
R4830:Boc	UTSW	16	44,310,520 (GRCm39)	missense	probably damaging	1.00
R5000:Boc	UTSW	16	44,310,517 (GRCm39)	missense	probably damaging	1.00
R5567:Boc	UTSW	16	44,313,187 (GRCm39)	missense	probably damaging	1.00
R5570:Boc	UTSW	16	44,313,187 (GRCm39)	missense	probably damaging	1.00
R5645:Boc	UTSW	16	44,320,024 (GRCm39)	missense	probably damaging	0.99
R5651:Boc	UTSW	16	44,341,558 (GRCm39)	missense	probably benign	0.00
R5881:Boc	UTSW	16	44,311,014 (GRCm39)	missense	probably damaging	1.00
R6021:Boc	UTSW	16	44,309,017 (GRCm39)	missense	probably benign	0.00
R6085:Boc	UTSW	16	44,308,970 (GRCm39)	missense	probably damaging	1.00
R6188:Boc	UTSW	16	44,319,911 (GRCm39)	missense	possibly damaging	0.67
R6295:Boc	UTSW	16	44,312,711 (GRCm39)	missense	probably benign	0.05
R6366:Boc	UTSW	16	44,308,015 (GRCm39)	missense	probably benign	0.04
R6626:Boc	UTSW	16	44,340,803 (GRCm39)	missense	possibly damaging	0.47
R6629:Boc	UTSW	16	44,312,724 (GRCm39)	missense	probably benign	0.11
R6707:Boc	UTSW	16	44,320,979 (GRCm39)	missense	possibly damaging	0.71
R6819:Boc	UTSW	16	44,313,188 (GRCm39)	missense	probably damaging	0.99
R6904:Boc	UTSW	16	44,312,154 (GRCm39)	missense	probably damaging	1.00
R7260:Boc	UTSW	16	44,310,533 (GRCm39)	missense
R7353:Boc	UTSW	16	44,306,100 (GRCm39)	missense	unknown
R7458:Boc	UTSW	16	44,307,119 (GRCm39)	missense
R7671:Boc	UTSW	16	44,312,212 (GRCm39)	missense
R8283:Boc	UTSW	16	44,340,800 (GRCm39)	missense	noncoding transcript
R8753:Boc	UTSW	16	44,320,775 (GRCm39)	missense
R8886:Boc	UTSW	16	44,319,806 (GRCm39)	missense
R8906:Boc	UTSW	16	44,323,931 (GRCm39)	missense
R9204:Boc	UTSW	16	44,308,077 (GRCm39)	missense
R9238:Boc	UTSW	16	44,311,021 (GRCm39)	missense
R9400:Boc	UTSW	16	44,319,844 (GRCm39)	missense
R9623:Boc	UTSW	16	44,322,018 (GRCm39)	missense
R9786:Boc	UTSW	16	44,311,692 (GRCm39)	missense
RF028:Boc	UTSW	16	44,316,796 (GRCm39)	frame shift	probably null

Posted On

2012-12-06