Mutagenetix > Incidental Mutation

Incidental Mutation 'R7260:Boc'

564571

Institutional Source

Beutler Lab

Gene Symbol

Boc

Ensembl Gene

ENSMUSG00000022687

Gene Name

BOC cell adhesion associated, oncogene regulated

Synonyms

MMRRC Submission

045352-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7260 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44305408-44379233 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44310533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 796 (F796I)

Ref Sequence

ENSEMBL: ENSMUSP00000110281 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000110281
Gene: ENSMUSG00000022687
AA Change: F796I

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

Meta Mutation Damage Score

0.3414

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (78/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	G	10: 28,849,882 (GRCm39)	S293P	probably benign	Het
Actn2	T	C	13: 12,291,376 (GRCm39)	N676S	probably benign	Het
Amfr	C	T	8: 94,702,776 (GRCm39)	M463I	possibly damaging	Het
Ankdd1a	G	T	9: 65,411,834 (GRCm39)	A325D	probably damaging	Het
Apba2	A	G	7: 64,389,493 (GRCm39)	D463G	probably damaging	Het
Arid5b	A	G	10: 67,933,637 (GRCm39)	V755A	probably damaging	Het
Ccnt1	G	A	15: 98,463,005 (GRCm39)	Q56*	probably null	Het
Cd248	T	A	19: 5,119,383 (GRCm39)	Y410*	probably null	Het
Chd9	T	A	8: 91,721,171 (GRCm39)	N986K	unknown	Het
Col6a6	T	C	9: 105,661,168 (GRCm39)	T314A	probably benign	Het
Cpped1	A	G	16: 11,646,327 (GRCm39)	F142L	possibly damaging	Het
Csmd1	C	T	8: 16,050,574 (GRCm39)	A2221T	probably damaging	Het
Cyp2c69	C	A	19: 39,831,344 (GRCm39)	V490L	probably benign	Het
Cyrib	A	T	15: 63,829,438 (GRCm39)	F23L	possibly damaging	Het
Dcst2	T	C	3: 89,273,593 (GRCm39)	F157S	probably damaging	Het
Ddx54	G	T	5: 120,764,985 (GRCm39)	R788L	probably benign	Het
Dnah1	T	C	14: 30,991,343 (GRCm39)	Y3145C	probably damaging	Het
Dnah14	A	T	1: 181,534,309 (GRCm39)	R2320W	probably damaging	Het
Dnai3	T	A	3: 145,752,295 (GRCm39)	M794L	probably benign	Het
Emilin2	T	C	17: 71,581,785 (GRCm39)	T314A	probably benign	Het
Eml2	A	G	7: 18,934,515 (GRCm39)	S405G	probably benign	Het
Ephb2	A	G	4: 136,498,885 (GRCm39)	F65L	probably damaging	Het
Fbn2	T	C	18: 58,199,188 (GRCm39)	D1360G	probably benign	Het
Fbxo22	A	G	9: 55,125,754 (GRCm39)	T206A	probably benign	Het
Filip1l	A	G	16: 57,391,287 (GRCm39)	E625G	probably damaging	Het
Gen1	A	C	12: 11,306,849 (GRCm39)	M172R	probably damaging	Het
Gk5	A	G	9: 96,001,663 (GRCm39)	K54E	probably benign	Het
Glis3	T	C	19: 28,508,802 (GRCm39)	E394G	probably benign	Het
Helq	T	A	5: 100,939,793 (GRCm39)	E373D	probably damaging	Het
Ighv1-74	A	G	12: 115,766,372 (GRCm39)	F83L	probably benign	Het
Ints15	A	G	5: 143,297,594 (GRCm39)	V151A	probably benign	Het
Iqcn	T	C	8: 71,161,397 (GRCm39)	Y197H	probably benign	Het
Kdm4d	T	C	9: 14,374,454 (GRCm39)	D468G	probably benign	Het
Kif20b	A	G	19: 34,927,610 (GRCm39)	I957M	probably damaging	Het
Ldhal6b	A	G	17: 5,468,535 (GRCm39)	F133S	possibly damaging	Het
Loxhd1	T	C	18: 77,420,338 (GRCm39)	Y321H	possibly damaging	Het
Ltbp1	A	T	17: 75,373,139 (GRCm39)	M261L	probably benign	Het
Mical2	A	T	7: 111,919,001 (GRCm39)	Q430L	probably benign	Het
Mroh4	A	T	15: 74,479,978 (GRCm39)	N885K	possibly damaging	Het
Ms4a7	A	G	19: 11,299,710 (GRCm39)	Y231H	probably damaging	Het
Msh2	G	T	17: 88,025,047 (GRCm39)	V642F	probably damaging	Het
Muc5b	G	T	7: 141,396,385 (GRCm39)	A166S	unknown	Het
Myo18b	T	C	5: 112,923,154 (GRCm39)	I1868V	probably benign	Het
Nfatc3	T	C	8: 106,835,578 (GRCm39)	S975P	probably benign	Het
Oacyl	T	C	18: 65,831,438 (GRCm39)	L25P	probably damaging	Het
Or12e10	A	G	2: 87,640,731 (GRCm39)	N189S	probably damaging	Het
Or5b109	T	C	19: 13,212,388 (GRCm39)	F258S	probably damaging	Het
Or5w15	T	C	2: 87,568,852 (GRCm39)		probably null	Het
Or6c69	T	A	10: 129,748,156 (GRCm39)		probably benign	Het
Or8a1	T	A	9: 37,642,049 (GRCm39)	I77F	probably damaging	Het
Patj	A	G	4: 98,304,970 (GRCm39)	I275V	possibly damaging	Het
Pdcd11	G	A	19: 47,117,673 (GRCm39)	R1674Q	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Phkb	T	A	8: 86,604,759 (GRCm39)	Y55N	probably benign	Het
Pias4	A	G	10: 80,993,302 (GRCm39)	V207A	possibly damaging	Het
Plxna4	C	A	6: 32,216,455 (GRCm39)	R540L	possibly damaging	Het
Psapl1	G	A	5: 36,362,556 (GRCm39)	V383M	probably benign	Het
Rars1	C	A	11: 35,725,281 (GRCm39)	A10S	probably benign	Het
Rhobtb1	A	T	10: 69,106,610 (GRCm39)	K454*	probably null	Het
Rmnd1	A	T	10: 4,364,803 (GRCm39)		probably null	Het
Rnf213	A	G	11: 119,343,401 (GRCm39)	I3589V		Het
Rngtt	T	C	4: 33,356,176 (GRCm39)	S338P	possibly damaging	Het
Sh3bgr	A	G	16: 96,025,681 (GRCm39)	E189G	unknown	Het
Slc30a3	G	A	5: 31,245,690 (GRCm39)	T281I	probably damaging	Het
Smok3c	T	A	5: 138,063,885 (GRCm39)	D457E	possibly damaging	Het
Stard9	C	A	2: 120,537,419 (GRCm39)	Q4274K	possibly damaging	Het
Syne2	G	T	12: 75,991,853 (GRCm39)	L1938F	probably damaging	Het
Tmem70	C	A	1: 16,735,590 (GRCm39)	T20K	possibly damaging	Het
Tnrc6a	A	G	7: 122,785,813 (GRCm39)	E1502G	probably benign	Het
Tpp1	A	T	7: 105,396,704 (GRCm39)	S438T	probably benign	Het
Tubb2a	T	A	13: 34,259,397 (GRCm39)	Q131L	probably damaging	Het
Ube2v1	A	G	2: 167,471,114 (GRCm39)	S26P	probably benign	Het
Unc13a	G	T	8: 72,113,229 (GRCm39)	S207R	possibly damaging	Het
Usp35	T	G	7: 96,969,286 (GRCm39)	D362A	probably damaging	Het
Utp20	A	G	10: 88,587,334 (GRCm39)	I2487T	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r117	T	A	17: 23,694,359 (GRCm39)	H496L	probably benign	Het
Vmn2r92	C	T	17: 18,387,138 (GRCm39)	A159V	probably damaging	Het
Wiz	T	C	17: 32,578,085 (GRCm39)	K467E	probably damaging	Het
Zfp534	T	C	4: 147,759,461 (GRCm39)	T403A	probably benign	Het
Zswim5	T	C	4: 116,819,843 (GRCm39)	L416P	probably damaging	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
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
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'- GTGGCAACCTACTCGTATTCAC -3'
(R):5'- TGTGTTGATCAGCAGCTAAGAC -3'

Sequencing Primer
(F):5'- CACAGCTCAAGAGAATCATTTGG -3'
(R):5'- CAGCTAAGACGATCAGGTTTGTC -3'

Posted On

2019-06-26