Mutagenetix > Incidental Mutation

Incidental Mutation 'R6085:Boc'

482452

Institutional Source

Beutler Lab

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 #

R6085 (G1)

Quality Score

213.009

Status

Not validated

Chromosome

Chromosomal Location

44305408-44379233 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 44308970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 847 (D847E)

Ref Sequence

ENSEMBL: ENSMUSP00000110281 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000023370
AA Change: D847E

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

SMART Domains

Protein: ENSMUSP00000023370
Gene: ENSMUSG00000022687
AA Change: D847E

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: D847E

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

SMART Domains

Protein: ENSMUSP00000110281
Gene: ENSMUSG00000022687
AA Change: D847E

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

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bora	A	T	14: 99,299,730 (GRCm39)	Q234L	possibly damaging	Het
Cdk12	T	C	11: 98,134,255 (GRCm39)	I1051T	unknown	Het
Ciita	A	G	16: 10,330,029 (GRCm39)	E771G	probably benign	Het
Cul2	T	C	18: 3,431,508 (GRCm39)	F638L	probably benign	Het
Ddx21	A	G	10: 62,429,866 (GRCm39)	Y293H	probably damaging	Het
Dhx8	C	T	11: 101,655,139 (GRCm39)	R1050W	probably damaging	Het
Etv1	G	A	12: 38,904,194 (GRCm39)	D285N	probably damaging	Het
Hs3st3a1	G	A	11: 64,327,004 (GRCm39)	V38I	possibly damaging	Het
Ifit1bl2	A	C	19: 34,597,217 (GRCm39)	F133C	possibly damaging	Het
Lama3	C	T	18: 12,615,156 (GRCm39)	T1360I	probably benign	Het
Mgrn1	A	G	16: 4,738,240 (GRCm39)	T265A	probably benign	Het
Nup155	T	C	15: 8,177,842 (GRCm39)	V1075A	probably damaging	Het
Or1ad6	A	G	11: 50,859,950 (GRCm39)	Y35C		Het
Pld4	A	G	12: 112,733,320 (GRCm39)	T299A	probably benign	Het
Prr5	T	A	15: 84,572,106 (GRCm39)	I38N	probably damaging	Het
Slc25a47	A	G	12: 108,820,254 (GRCm39)	Y86C	probably benign	Het
Spata31e5	T	C	1: 28,817,308 (GRCm39)	I241M	possibly damaging	Het
Synrg	A	T	11: 83,930,487 (GRCm39)	E1276D	possibly damaging	Het
Taar7e	T	C	10: 23,913,761 (GRCm39)	F84L	probably benign	Het
Tssk1	G	A	16: 17,712,848 (GRCm39)	C211Y	possibly damaging	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Xpo7	A	T	14: 70,934,051 (GRCm39)	S236T	probably benign	Het

Other mutations in Boc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00799:Boc	APN	16	44,313,318 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTGCTTGAGTTCCCAGGGAG -3'
(R):5'- TCCTATGTCCATGGAATTGAGGTG -3'

Sequencing Primer
(F):5'- TGGAGCTGGACCACTGG -3'
(R):5'- CCATGGAATTGAGGTGCTTTG -3'

Posted On

2017-07-14