Mutagenetix > Incidental Mutation

Incidental Mutation 'R1168:Ibsp'

101288

Institutional Source

Beutler Lab

Gene Symbol

Ibsp

Ensembl Gene

ENSMUSG00000029306

Gene Name

integrin binding sialoprotein

Synonyms

Bsp2, bone sialoprotein, BSP, Bsp

MMRRC Submission

039241-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R1168 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104447153-104459338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104450018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 6 (I6V)

Ref Sequence

ENSEMBL: ENSMUSP00000031246 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031246]

AlphaFold

Q61711

Predicted Effect

probably damaging
Transcript: ENSMUST00000031246
AA Change: I6V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031246
Gene: ENSMUSG00000029306
AA Change: I6V

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:BSP_II	17	321	2.8e-127	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177797

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.2%
20x: 88.8%

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 major structural protein of the bone matrix. It constitutes approximately 12% of the noncollagenous proteins in human bone and is synthesized by skeletal-associated cell types, including hypertrophic chondrocytes, osteoblasts, osteocytes, and osteoclasts. The only extraskeletal site of its synthesis is the trophoblast. This protein binds to calcium and hydroxyapatite via its acidic amino acid clusters, and mediates cell attachment through an RGD sequence that recognizes the vitronectin receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show reduced body weight/size, delayed long bone growth and mineralization with low bone turn over due to reduced osteoclast formation, delayed intramembranous ossification, progressive periodontal breakdown, and severe alveolar and mandibular bone loss. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Targeted, other(2)

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,773,661 (GRCm39)	V950A	probably benign	Het
Adgrb3	A	T	1: 25,865,280 (GRCm39)	S188T	probably benign	Het
Ahr	A	T	12: 35,554,531 (GRCm39)	N529K	possibly damaging	Het
Akr1c21	A	G	13: 4,633,836 (GRCm39)	N302D	probably benign	Het
Aldh8a1	T	A	10: 21,260,530 (GRCm39)		probably null	Het
Alpk3	A	T	7: 80,753,105 (GRCm39)	K1554M	probably damaging	Het
Arhgef5	T	A	6: 43,250,330 (GRCm39)	H360Q	probably benign	Het
Cacna1a	A	G	8: 85,306,130 (GRCm39)	I1293V	probably damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cd200r4	T	A	16: 44,653,307 (GRCm39)	W72R	probably damaging	Het
Ces2e	A	T	8: 105,653,646 (GRCm39)	D28V	possibly damaging	Het
Cfap20dc	T	C	14: 8,442,939 (GRCm38)	N610S	probably benign	Het
Cfap45	T	C	1: 172,373,264 (GRCm39)	Y534H	probably damaging	Het
Cfap54	A	T	10: 92,773,782 (GRCm39)	C87S	probably damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Chrna4	T	A	2: 180,675,931 (GRCm39)	M67L	possibly damaging	Het
Cplx3	G	A	9: 57,515,595 (GRCm39)	R427C	probably benign	Het
Cts7	T	A	13: 61,501,631 (GRCm39)	N290Y	probably damaging	Het
Enpp6	A	T	8: 47,483,489 (GRCm39)	M94L	probably damaging	Het
Fam83d	C	T	2: 158,610,443 (GRCm39)	A137V	probably benign	Het
Foxd2	C	T	4: 114,764,875 (GRCm39)	A382T	possibly damaging	Het
Galnt11	T	G	5: 25,455,244 (GRCm39)	S193R	probably damaging	Het
Gapvd1	A	T	2: 34,594,481 (GRCm39)	D856E	probably damaging	Het
Gclm	T	A	3: 122,056,337 (GRCm39)	H86Q	possibly damaging	Het
Gipc2	T	C	3: 151,813,634 (GRCm39)	T220A	probably benign	Het
Gm12185	G	T	11: 48,806,182 (GRCm39)	N336K	possibly damaging	Het
Gm5431	A	T	11: 48,786,191 (GRCm39)	S61R	probably benign	Het
Gorasp2	C	T	2: 70,518,744 (GRCm39)	P260S	probably damaging	Het
H2-M10.6	A	G	17: 37,124,052 (GRCm39)	Q172R	probably benign	Het
Iqsec1	T	C	6: 90,666,658 (GRCm39)	Y593C	probably damaging	Het
Irag1	T	C	7: 110,495,138 (GRCm39)	K429R	probably damaging	Het
Itln1	G	T	1: 171,359,119 (GRCm39)	Y61*	probably null	Het
Kif21a	G	A	15: 90,877,956 (GRCm39)	T284I	probably damaging	Het
Kif3a	G	A	11: 53,489,139 (GRCm39)	G621R	probably damaging	Het
Klb	A	G	5: 65,536,317 (GRCm39)	Y549C	probably damaging	Het
Lrrc37	T	C	11: 103,509,776 (GRCm39)		probably benign	Het
Map4	T	C	9: 109,864,032 (GRCm39)	V419A	probably benign	Het
Mastl	A	T	2: 23,023,144 (GRCm39)	D526E	probably benign	Het
Mtif2	A	G	11: 29,486,914 (GRCm39)	D308G	probably benign	Het
Ncald	A	G	15: 37,397,578 (GRCm39)	F34S	probably damaging	Het
Ndc1	A	G	4: 107,253,009 (GRCm39)	T593A	probably benign	Het
Ndst3	C	T	3: 123,400,617 (GRCm39)	V15I	probably benign	Het
Nup214	A	G	2: 31,915,313 (GRCm39)	N1166D	probably benign	Het
Or1a1	A	G	11: 74,087,247 (GRCm39)	H306R	probably benign	Het
Or2ad1	A	G	13: 21,326,787 (GRCm39)	S147P	probably benign	Het
Or4a68	G	A	2: 89,270,213 (GRCm39)	Q137*	probably null	Het
Or5m8	A	T	2: 85,823,028 (GRCm39)	Y289F	probably damaging	Het
Pcdhb8	T	C	18: 37,489,780 (GRCm39)	I486T	probably benign	Het
Pdzrn4	A	T	15: 92,668,152 (GRCm39)	Y768F	probably benign	Het
Pgf	A	G	12: 85,218,541 (GRCm39)	S70P	probably benign	Het
Plcl2	G	A	17: 50,914,100 (GRCm39)	A370T	possibly damaging	Het
Pnkp	T	A	7: 44,511,961 (GRCm39)	W115R	probably benign	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Prag1	A	G	8: 36,613,799 (GRCm39)	E1117G	probably damaging	Het
Prr12	T	A	7: 44,678,471 (GRCm39)	Q1919L	unknown	Het
Ret	G	T	6: 118,150,519 (GRCm39)	H666N	possibly damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Robo2	C	T	16: 73,745,184 (GRCm39)	G864S	probably damaging	Het
Rpa2	T	G	4: 132,499,171 (GRCm39)	I80S	probably damaging	Het
Ryk	A	T	9: 102,775,674 (GRCm39)	D428V	probably damaging	Het
Slc29a1	A	T	17: 45,901,204 (GRCm39)	N30K	probably damaging	Het
Stbd1	A	G	5: 92,752,795 (GRCm39)	N95S	probably benign	Het
Tbc1d22a	A	G	15: 86,176,335 (GRCm39)	E212G	probably benign	Het
Tex14	A	G	11: 87,427,568 (GRCm39)	T7A	probably benign	Het
Tmc8	T	C	11: 117,683,389 (GRCm39)	V648A	possibly damaging	Het
Tmem132b	G	T	5: 125,864,083 (GRCm39)	V730F	probably damaging	Het
Tmub2	G	A	11: 102,178,196 (GRCm39)	G33D	possibly damaging	Het
Trak1	G	A	9: 121,269,745 (GRCm39)	D124N	probably damaging	Het
Ttc28	A	T	5: 111,378,977 (GRCm39)	Y1154F	probably damaging	Het
Ttn	T	C	2: 76,739,713 (GRCm39)	T3609A	probably benign	Het
Tulp2	A	G	7: 45,167,266 (GRCm39)	T99A	probably benign	Het
Ugt2a2	A	T	5: 87,613,427 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,410,608 (GRCm39)	V2419I	probably benign	Het
Vill	C	A	9: 118,899,389 (GRCm39)	P343Q	probably damaging	Het
Vmn2r66	T	A	7: 84,656,062 (GRCm39)	H318L	possibly damaging	Het
Wdr3	A	C	3: 100,049,535 (GRCm39)	N800K	probably benign	Het
Wdr93	A	G	7: 79,398,922 (GRCm39)	K19E	probably damaging	Het
Wrn	A	G	8: 33,806,436 (GRCm39)	S333P	probably damaging	Het
Zfp418	T	C	7: 7,185,500 (GRCm39)	S488P	possibly damaging	Het
Zfp804a	A	G	2: 82,087,041 (GRCm39)	E290G	probably benign	Het

Other mutations in Ibsp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00687:Ibsp	APN	5	104,457,934 (GRCm39)	missense	probably benign	0.27
IGL02317:Ibsp	APN	5	104,450,332 (GRCm39)	missense	probably damaging	1.00
IGL02539:Ibsp	APN	5	104,450,149 (GRCm39)	missense	probably damaging	0.99
IGL03236:Ibsp	APN	5	104,453,871 (GRCm39)	missense	probably benign	0.30
crunch	UTSW	5	104,457,148 (GRCm39)	missense	probably damaging	1.00
I2289:Ibsp	UTSW	5	104,450,353 (GRCm39)	missense	possibly damaging	0.64
PIT4445001:Ibsp	UTSW	5	104,450,170 (GRCm39)	missense	possibly damaging	0.94
R0049:Ibsp	UTSW	5	104,450,024 (GRCm39)	missense	probably damaging	1.00
R0049:Ibsp	UTSW	5	104,450,024 (GRCm39)	missense	probably damaging	1.00
R0234:Ibsp	UTSW	5	104,457,935 (GRCm39)	small deletion	probably benign
R0610:Ibsp	UTSW	5	104,458,000 (GRCm39)	missense	probably benign	0.07
R0656:Ibsp	UTSW	5	104,457,886 (GRCm39)	critical splice acceptor site	probably null
R1440:Ibsp	UTSW	5	104,458,405 (GRCm39)	missense	unknown
R1569:Ibsp	UTSW	5	104,458,017 (GRCm39)	missense	probably damaging	1.00
R1921:Ibsp	UTSW	5	104,458,078 (GRCm39)	missense	probably damaging	1.00
R2172:Ibsp	UTSW	5	104,458,296 (GRCm39)	missense	probably damaging	1.00
R2879:Ibsp	UTSW	5	104,458,260 (GRCm39)	missense	possibly damaging	0.88
R4399:Ibsp	UTSW	5	104,457,148 (GRCm39)	missense	probably damaging	1.00
R4517:Ibsp	UTSW	5	104,453,863 (GRCm39)	nonsense	probably null
R5417:Ibsp	UTSW	5	104,458,335 (GRCm39)	missense	possibly damaging	0.95
R5575:Ibsp	UTSW	5	104,457,925 (GRCm39)	missense	possibly damaging	0.78
R6183:Ibsp	UTSW	5	104,453,896 (GRCm39)	missense	possibly damaging	0.95
R6273:Ibsp	UTSW	5	104,458,167 (GRCm39)	missense	probably benign	0.15
R6295:Ibsp	UTSW	5	104,449,987 (GRCm39)	splice site	probably null
R7061:Ibsp	UTSW	5	104,457,768 (GRCm39)	splice site	probably null
R7133:Ibsp	UTSW	5	104,450,172 (GRCm39)	nonsense	probably null
R7202:Ibsp	UTSW	5	104,450,027 (GRCm39)	missense	probably benign	0.02
R7205:Ibsp	UTSW	5	104,458,297 (GRCm39)	missense	probably damaging	0.99
R7769:Ibsp	UTSW	5	104,458,050 (GRCm39)	missense	probably damaging	0.97
R7769:Ibsp	UTSW	5	104,453,871 (GRCm39)	missense	probably benign	0.15
R8506:Ibsp	UTSW	5	104,457,947 (GRCm39)	missense	probably damaging	1.00
R8840:Ibsp	UTSW	5	104,458,006 (GRCm39)	missense	probably benign	0.00
R9396:Ibsp	UTSW	5	104,458,297 (GRCm39)	missense	probably damaging	1.00
R9431:Ibsp	UTSW	5	104,457,167 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15