Mutagenetix > Incidental Mutation

Incidental Mutation 'R8506:Ibsp'

655563

Institutional Source

Beutler Lab

Gene Symbol

Ibsp

Ensembl Gene

ENSMUSG00000029306

Gene Name

integrin binding sialoprotein

Synonyms

Bsp2, bone sialoprotein, BSP, Bsp

MMRRC Submission

067842-MU

Accession Numbers

Essential gene?

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

Stock #

R8506 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104447153-104459338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104457947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 161 (E161D)

Ref Sequence

ENSEMBL: ENSMUSP00000031246 (fasta)

Gene Model

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

AlphaFold

Q61711

Predicted Effect

probably damaging
Transcript: ENSMUST00000031246
AA Change: E161D

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

SMART Domains

Protein: ENSMUSP00000031246
Gene: ENSMUSG00000029306
AA Change: E161D

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	T	9: 101,820,171 (GRCm39)	E197V	possibly damaging	Het
Alkbh8	C	T	9: 3,335,616 (GRCm39)		probably benign	Het
Ank1	G	A	8: 23,586,851 (GRCm39)	A498T	probably damaging	Het
Antxr1	T	A	6: 87,165,155 (GRCm39)	E427D	possibly damaging	Het
App	A	C	16: 84,879,704 (GRCm39)	V143G	unknown	Het
Bod1l	C	A	5: 41,976,398 (GRCm39)	E1639*	probably null	Het
C2cd2	T	C	16: 97,676,621 (GRCm39)	D122G		Het
Ccdc88b	G	T	19: 6,824,690 (GRCm39)	P1357T	probably damaging	Het
Ccnyl1	A	G	1: 64,753,821 (GRCm39)	T211A	possibly damaging	Het
Cdc25a	T	C	9: 109,720,820 (GRCm39)	Y434H	probably damaging	Het
Ceacam16	C	A	7: 19,586,195 (GRCm39)	A106S	unknown	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Chpf2	T	C	5: 24,793,295 (GRCm39)	L87P	probably damaging	Het
Col5a2	A	T	1: 45,481,944 (GRCm39)	I60N	unknown	Het
Cux1	T	A	5: 136,337,358 (GRCm39)	E718V	probably damaging	Het
Dchs2	A	T	3: 83,208,481 (GRCm39)	I1845L	probably benign	Het
Disp3	C	T	4: 148,326,027 (GRCm39)	V1244I	possibly damaging	Het
Dnah8	T	C	17: 30,940,108 (GRCm39)	S1685P	probably benign	Het
Etnppl	G	A	3: 130,423,122 (GRCm39)	V274I	possibly damaging	Het
Evc2	T	C	5: 37,540,486 (GRCm39)	S561P	probably damaging	Het
Fga	A	G	3: 82,940,623 (GRCm39)	E759G	probably damaging	Het
Gdpd5	T	C	7: 99,103,157 (GRCm39)	F372S	probably benign	Het
Gpr155	T	C	2: 73,173,806 (GRCm39)	T868A	probably damaging	Het
Herc1	A	G	9: 66,380,863 (GRCm39)	D3580G	possibly damaging	Het
Hmbs	A	G	9: 44,252,921 (GRCm39)		probably null	Het
Ighv8-4	A	G	12: 114,987,728 (GRCm39)	V90A	possibly damaging	Het
Itpr2	A	G	6: 146,319,914 (GRCm39)		probably null	Het
Kcnc2	T	A	10: 112,291,537 (GRCm39)	F242I	probably damaging	Het
Kcnj5	A	G	9: 32,233,628 (GRCm39)	I229T	probably damaging	Het
Lamb1	A	T	12: 31,379,360 (GRCm39)	L1791F	probably damaging	Het
Med6	A	T	12: 81,641,734 (GRCm39)	M1K	probably null	Het
Mei4	A	G	9: 81,861,291 (GRCm39)	D294G	probably benign	Het
Nat10	T	C	2: 103,562,582 (GRCm39)	I585V	probably benign	Het
Nid1	T	C	13: 13,650,759 (GRCm39)	V432A	probably damaging	Het
Nlrp4c	G	T	7: 6,103,775 (GRCm39)	G903V	possibly damaging	Het
Nrf1	G	A	6: 30,126,256 (GRCm39)	A416T	probably benign	Het
Nsl1	G	C	1: 190,808,832 (GRCm39)	C173S	unknown	Het
Obsl1	G	A	1: 75,482,300 (GRCm39)	A190V	probably benign	Het
Or13a22	G	A	7: 140,073,336 (GRCm39)	V262I	probably benign	Het
Or51f1d	T	A	7: 102,700,709 (GRCm39)	M68K	probably damaging	Het
Or5b3	A	G	19: 13,388,604 (GRCm39)	T224A	possibly damaging	Het
Or5w8	A	T	2: 87,688,181 (GRCm39)	I221F	probably damaging	Het
Or8k3	A	G	2: 86,058,922 (GRCm39)	L131P	possibly damaging	Het
Or8k38	T	C	2: 86,488,745 (GRCm39)	D19G	probably benign	Het
Osbpl1a	G	A	18: 12,901,643 (GRCm39)	T621I	probably benign	Het
Pabpc4l	G	A	3: 46,400,832 (GRCm39)	R271*	probably null	Het
Paics	A	T	5: 77,112,437 (GRCm39)	D307V	possibly damaging	Het
Pcdhga9	A	G	18: 37,871,737 (GRCm39)	D522G	probably damaging	Het
Pclo	T	A	5: 14,590,759 (GRCm39)	C1020S	unknown	Het
Pfkfb4	T	G	9: 108,834,667 (GRCm39)	D113E	possibly damaging	Het
Plod3	A	G	5: 137,017,830 (GRCm39)	Y202C	probably damaging	Het
Pmp22	T	A	11: 63,049,090 (GRCm39)	M111K	probably damaging	Het
Pole2	A	C	12: 69,255,734 (GRCm39)	S344A	probably benign	Het
Pom121l2	A	G	13: 22,167,789 (GRCm39)	T687A	probably benign	Het
Psmd6	A	G	14: 14,114,181 (GRCm38)	S313P	probably damaging	Het
Rd3	T	G	1: 191,715,228 (GRCm39)	M1R	probably null	Het
Rtn4ip1	G	A	10: 43,804,352 (GRCm39)	V235I	probably benign	Het
Senp5	T	C	16: 31,787,719 (GRCm39)	I635V	probably damaging	Het
Stox2	T	C	8: 47,645,108 (GRCm39)	E784G	possibly damaging	Het
Syce2	A	T	8: 85,613,795 (GRCm39)	D168V	probably benign	Het
Taar6	A	G	10: 23,861,529 (GRCm39)	S6P	probably benign	Het
Tbc1d16	A	C	11: 119,039,784 (GRCm39)	H675Q	probably damaging	Het
Tmem151b	A	T	17: 45,856,327 (GRCm39)	I371N	probably damaging	Het
Trim31	A	T	17: 37,218,150 (GRCm39)		probably null	Het
Usp48	A	G	4: 137,338,029 (GRCm39)	Y268C	probably damaging	Het
Vmn2r11	A	G	5: 109,207,270 (GRCm39)	S17P	probably benign	Het
Vmn2r110	T	A	17: 20,804,627 (GRCm39)	N98Y	probably benign	Het
Vps13b	T	A	15: 35,446,891 (GRCm39)	D515E	probably benign	Het
Yeats2	T	G	16: 19,971,684 (GRCm39)	I42M	probably 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
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
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'- CAGGACAGGATTATCACGTACAC -3'
(R):5'- ACCTGCTTCAGTGACGCTTG -3'

Sequencing Primer
(F):5'- ACGCATCCCAAAGGTATCTATTCTG -3'
(R):5'- CAGTGACGCTTGCCTCC -3'

Posted On

2020-10-20