Mutagenetix > Incidental Mutation

Incidental Mutation 'R2172:Ibsp'

237543

Institutional Source

Beutler Lab

Gene Symbol

Ibsp

Ensembl Gene

ENSMUSG00000029306

Gene Name

integrin binding sialoprotein

Synonyms

Bsp2, bone sialoprotein, BSP, Bsp

MMRRC Submission

040174-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R2172 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104447153-104459338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104458296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 278 (Y278H)

Ref Sequence

ENSEMBL: ENSMUSP00000031246 (fasta)

Gene Model

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

AlphaFold

Q61711

Predicted Effect

probably damaging
Transcript: ENSMUST00000031246
AA Change: Y278H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031246
Gene: ENSMUSG00000029306
AA Change: Y278H

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap3	T	A	18: 38,123,613 (GRCm39)	E441V	probably damaging	Het
Arfip2	T	A	7: 105,287,195 (GRCm39)	D64V	probably damaging	Het
Atg9a	C	A	1: 75,162,329 (GRCm39)	R527L	probably damaging	Het
Atp1a1	T	G	3: 101,497,864 (GRCm39)	I308L	probably benign	Het
Bcan	T	A	3: 87,903,888 (GRCm39)	Y199F	probably damaging	Het
Bsn	T	C	9: 107,987,191 (GRCm39)		probably benign	Het
Ccdc158	A	T	5: 92,780,367 (GRCm39)	L902H	probably damaging	Het
Dnah7b	A	G	1: 46,163,672 (GRCm39)	Y492C	probably benign	Het
Dnah9	G	T	11: 65,963,605 (GRCm39)	H1783N	probably damaging	Het
Dpep2	A	G	8: 106,715,630 (GRCm39)	V320A	possibly damaging	Het
Dsc2	A	G	18: 20,178,559 (GRCm39)	Y282H	probably damaging	Het
Egfr	C	T	11: 16,861,562 (GRCm39)	P1114S	probably benign	Het
Fastkd1	A	G	2: 69,530,477 (GRCm39)	S560P	probably damaging	Het
Gm14295	G	A	2: 176,502,895 (GRCm39)	R795Q	possibly damaging	Het
Gpr155	C	T	2: 73,212,471 (GRCm39)	V51I	probably benign	Het
Gsap	G	A	5: 21,427,438 (GRCm39)		probably null	Het
Hecw1	T	A	13: 14,552,291 (GRCm39)	I103F	probably damaging	Het
Herc3	T	A	6: 58,864,422 (GRCm39)	N685K	probably damaging	Het
Hnrnph1	T	A	11: 50,273,643 (GRCm39)	D244E	probably benign	Het
Hydin	A	G	8: 111,308,681 (GRCm39)	E3989G	probably benign	Het
Ift57	T	G	16: 49,579,703 (GRCm39)	N291K	probably benign	Het
Il15ra	A	G	2: 11,728,382 (GRCm39)	T149A	possibly damaging	Het
Ints5	C	T	19: 8,873,646 (GRCm39)	T535I	possibly damaging	Het
Jarid2	T	C	13: 45,056,015 (GRCm39)	L268P	probably damaging	Het
Klhdc7a	T	A	4: 139,693,121 (GRCm39)	T609S	probably benign	Het
Lrrc49	A	G	9: 60,509,965 (GRCm39)	V429A	probably benign	Het
Lsm3	T	C	6: 91,499,254 (GRCm39)	V87A	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Map1a	G	T	2: 121,138,413 (GRCm39)	V2726L	probably damaging	Het
Marveld3	A	C	8: 110,688,478 (GRCm39)	S88A	probably benign	Het
Mcm9	T	C	10: 53,424,670 (GRCm39)	D640G	probably damaging	Het
Mettl4	A	G	17: 95,040,591 (GRCm39)	I399T	probably benign	Het
Mmp27	T	A	9: 7,577,379 (GRCm39)	L274*	probably null	Het
Nacc2	A	C	2: 25,950,235 (GRCm39)	D500E	probably benign	Het
Nprl3	T	A	11: 32,184,894 (GRCm39)	M372L	probably benign	Het
Or5p6	A	T	7: 107,630,674 (GRCm39)	I292N	probably damaging	Het
Otud7b	T	G	3: 96,060,837 (GRCm39)		probably null	Het
Pcx	G	A	19: 4,670,909 (GRCm39)	R1070H	probably benign	Het
Ptprq	C	T	10: 107,426,855 (GRCm39)	W1560*	probably null	Het
Puf60	A	T	15: 75,942,313 (GRCm39)	I520N	probably damaging	Het
Qars1	C	T	9: 108,386,399 (GRCm39)	R143C	probably damaging	Het
Rfx3	G	A	19: 27,792,894 (GRCm39)	Q322*	probably null	Het
Samd14	G	T	11: 94,905,217 (GRCm39)	V10L	probably benign	Het
Setd2	G	A	9: 110,378,912 (GRCm39)	R909Q	probably benign	Het
Sh2d4a	T	C	8: 68,749,316 (GRCm39)	S117P	probably benign	Het
Sharpin	C	A	15: 76,234,866 (GRCm39)		probably benign	Het
Skor1	C	A	9: 63,052,404 (GRCm39)	A494S	possibly damaging	Het
Slc41a2	T	C	10: 83,119,638 (GRCm39)	T375A	probably benign	Het
Sparc	G	A	11: 55,286,627 (GRCm39)	Q324*	probably null	Het
Spopfm2	T	G	3: 94,083,605 (GRCm39)	K69Q	possibly damaging	Het
Srebf1	T	C	11: 60,097,328 (GRCm39)	T171A	probably benign	Het
Srrd	A	G	5: 112,488,988 (GRCm39)	I54T	possibly damaging	Het
Tecpr1	G	T	5: 144,133,235 (GRCm39)	Q1072K	probably damaging	Het
Tecpr1	A	T	5: 144,148,274 (GRCm39)	V377E	probably benign	Het
Tln1	T	A	4: 43,545,721 (GRCm39)	H919L	probably benign	Het
Tm9sf3	C	T	19: 41,205,859 (GRCm39)	S516N	probably damaging	Het
Trpa1	T	A	1: 14,951,880 (GRCm39)	T940S	probably benign	Het
Trpv4	G	A	5: 114,782,771 (GRCm39)	R64C	probably damaging	Het
Tufm	A	G	7: 126,088,019 (GRCm39)	E174G	probably benign	Het
Urb2	A	G	8: 124,757,841 (GRCm39)	T1183A	probably damaging	Het
Virma	A	T	4: 11,527,843 (GRCm39)	M1245L	possibly damaging	Het
Vmn2r32	T	C	7: 7,477,614 (GRCm39)	Y259C	probably damaging	Het
Zfp329	A	G	7: 12,544,694 (GRCm39)	F277L	probably damaging	Het
Zfp683	C	T	4: 133,783,106 (GRCm39)	T190I	possibly damaging	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
R1168:Ibsp	UTSW	5	104,450,018 (GRCm39)	missense	probably damaging	0.99
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
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

PCR Primer
(F):5'- AAGCGTCACTGAAGCAGGTG -3'
(R):5'- TGCACCTTCCTGAGTTGAATTTTG -3'

Sequencing Primer
(F):5'- TCACTGAAGCAGGTGCAGAAG -3'
(R):5'- TGGGGAATTCAAATGGGGAAATTCC -3'

Posted On

2014-10-02