Mutagenetix > Incidental Mutation

Incidental Mutation 'R2441:Boc'

249799

Institutional Source

Beutler Lab

Gene Symbol

Boc

Ensembl Gene

ENSMUSG00000022687

Gene Name

BOC cell adhesion associated, oncogene regulated

Synonyms

MMRRC Submission

040399-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2441 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44305408-44379233 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44308986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 842 (V842A)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000023370
AA Change: V842A

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

SMART Domains

Protein: ENSMUSP00000023370
Gene: ENSMUSG00000022687
AA Change: V842A

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

possibly damaging
Transcript: ENSMUST00000114634
AA Change: V842A

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110281
Gene: ENSMUSG00000022687
AA Change: V842A

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,385,449 (GRCm39)	N172S	possibly damaging	Het
AY358078	A	G	14: 52,037,546 (GRCm39)	H15R	probably benign	Het
Chuk	T	A	19: 44,085,360 (GRCm39)	N262I	probably damaging	Het
Erich6	A	T	3: 58,526,232 (GRCm39)	L590Q	probably damaging	Het
Fsip2	A	T	2: 82,815,685 (GRCm39)	H3806L	possibly damaging	Het
Gucy1b1	T	C	3: 81,952,761 (GRCm39)	D224G	probably damaging	Het
Hgf	A	T	5: 16,809,788 (GRCm39)	H426L	probably damaging	Het
Nrxn2	G	T	19: 6,478,331 (GRCm39)	G85W	probably damaging	Het
Ntrk3	A	T	7: 77,952,410 (GRCm39)	N602K	probably damaging	Het
Or13p10	G	A	4: 118,523,332 (GRCm39)	G206D	possibly damaging	Het
Or5p51	T	C	7: 107,444,185 (GRCm39)	T252A	probably benign	Het
P3h4	G	A	11: 100,304,594 (GRCm39)	R216W	probably damaging	Het
Pced1b	T	A	15: 97,282,166 (GRCm39)	D68E	possibly damaging	Het
Pzp	A	T	6: 128,466,731 (GRCm39)	L1161*	probably null	Het
Rprd1a	A	T	18: 24,640,257 (GRCm39)	L173*	probably null	Het
Slfn3	A	G	11: 83,103,509 (GRCm39)	I127V	probably benign	Het
Sp100	A	G	1: 85,631,210 (GRCm39)		probably benign	Het
Tbx15	T	G	3: 99,259,827 (GRCm39)	M566R	probably damaging	Het
Tesmin	G	A	19: 3,452,577 (GRCm39)		probably null	Het
Tmem132a	A	G	19: 10,837,501 (GRCm39)	V603A	probably damaging	Het
Tob2	G	T	15: 81,735,923 (GRCm39)	Y15*	probably null	Het
Trim23	A	T	13: 104,328,583 (GRCm39)	Q307L	probably damaging	Het
Trpc4	A	T	3: 54,129,704 (GRCm39)	I157L	probably damaging	Het
Tsen34	A	T	7: 3,697,994 (GRCm39)	K87N	possibly damaging	Het
Ubr5	A	G	15: 37,989,589 (GRCm39)	S2076P	probably damaging	Het
Vmn2r59	C	T	7: 41,695,570 (GRCm39)	V281I	probably benign	Het
Vwa3b	T	C	1: 37,182,150 (GRCm39)		probably benign	Het
Zfp384	C	T	6: 125,013,612 (GRCm39)	P544L	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
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

Predicted Primers

PCR Primer
(F):5'- TTGGTGAGCTGAGAGGCATC -3'
(R):5'- GATATTGAGTCCCCTGTCTTGG -3'

Sequencing Primer
(F):5'- GAGGCATCTCCCCTCCTTC -3'
(R):5'- CCATTTCCTATGTCCATGGAATTGAG -3'

Posted On

2014-11-12