Mutagenetix > Incidental Mutation

Incidental Mutation 'R7769:Ibsp'

598458

Institutional Source

Beutler Lab

Gene Symbol

Ibsp

Ensembl Gene

ENSMUSG00000029306

Gene Name

integrin binding sialoprotein

Synonyms

Bsp2, bone sialoprotein, BSP, Bsp

MMRRC Submission

045825-MU

Accession Numbers

Essential gene?

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

Stock #

R7769 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104447153-104459338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104458050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 196 (N196D)

Ref Sequence

ENSEMBL: ENSMUSP00000031246 (fasta)

Gene Model

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

AlphaFold

Q61711

Predicted Effect

probably damaging
Transcript: ENSMUST00000031246
AA Change: N196D

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031246
Gene: ENSMUSG00000029306
AA Change: N196D

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

Meta Mutation Damage Score

0.3624

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (71/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	ACCAGCCC	ACC	14: 118,852,682 (GRCm39)		probably null	Het
Abhd14b	T	C	9: 106,328,819 (GRCm39)	Y147H	probably damaging	Het
Adam26b	C	A	8: 43,974,732 (GRCm39)	R90L	probably benign	Het
Agt	A	T	8: 125,291,289 (GRCm39)	M6K	probably benign	Het
Akr1c14	T	C	13: 4,109,644 (GRCm39)	S5P	probably benign	Het
Arhgef38	A	C	3: 132,855,383 (GRCm39)	S235A	unknown	Het
Cabp5	A	G	7: 13,134,658 (GRCm39)	D31G	probably benign	Het
Cacna1h	T	A	17: 25,604,779 (GRCm39)	D1178V	probably damaging	Het
Ccdc88a	A	T	11: 29,432,381 (GRCm39)	E1199D	probably damaging	Het
Cd244a	A	T	1: 171,404,873 (GRCm39)	I242F	probably benign	Het
Clpb	G	T	7: 101,371,924 (GRCm39)	R220L	probably damaging	Het
Cltc	C	T	11: 86,610,319 (GRCm39)	R638H	probably damaging	Het
Cnr1	A	T	4: 33,944,892 (GRCm39)	M427L	probably benign	Het
Ctnnbl1	C	T	2: 157,579,390 (GRCm39)		probably benign	Het
Epb41l2	A	T	10: 25,369,471 (GRCm39)	T597S	probably benign	Het
Epb41l3	T	C	17: 69,545,421 (GRCm39)	Y163H	probably damaging	Het
Fgg	A	G	3: 82,920,433 (GRCm39)		probably null	Het
Gm37240	A	T	3: 84,417,232 (GRCm39)	D162E	possibly damaging	Het
Gm44511	T	A	6: 128,797,240 (GRCm39)	T83S	probably benign	Het
Gm6685	T	A	11: 28,289,252 (GRCm39)	Y188F	probably benign	Het
Gprin2	A	T	14: 33,917,570 (GRCm39)	C67S	probably benign	Het
Grk6	A	G	13: 55,598,820 (GRCm39)	D140G	probably benign	Het
Hps3	T	C	3: 20,072,972 (GRCm39)		probably null	Het
Hspb7	T	C	4: 141,151,335 (GRCm39)	V159A	possibly damaging	Het
Igfn1	A	T	1: 135,910,143 (GRCm39)	F147Y	possibly damaging	Het
Iqca1	T	G	1: 90,005,532 (GRCm39)	D492A	possibly damaging	Het
Klhl42	T	C	6: 146,993,358 (GRCm39)	L110P	possibly damaging	Het
Krt12	C	T	11: 99,308,852 (GRCm39)	R395Q	probably damaging	Het
Lig4	A	T	8: 10,023,629 (GRCm39)	H50Q	possibly damaging	Het
Mttp	A	C	3: 137,808,873 (GRCm39)	L730R	probably damaging	Het
Muc16	T	A	9: 18,571,803 (GRCm39)	I239L	unknown	Het
Myo15a	T	C	11: 60,399,975 (GRCm39)	F1723L		Het
Niban2	A	G	2: 32,809,844 (GRCm39)	T314A	possibly damaging	Het
Nin	T	C	12: 70,090,004 (GRCm39)	D1137G		Het
Nsf	C	T	11: 103,819,665 (GRCm39)	V35M	probably damaging	Het
Numa1	T	A	7: 101,648,207 (GRCm39)	I646K	possibly damaging	Het
Nwd2	A	G	5: 63,961,847 (GRCm39)	N477S	probably damaging	Het
Or1p1	T	A	11: 74,179,589 (GRCm39)	V39E	probably damaging	Het
P4ha3	A	G	7: 99,934,924 (GRCm39)	D62G	probably damaging	Het
Palb2	G	T	7: 121,727,638 (GRCm39)	D77E	probably benign	Het
Pcmtd2	T	C	2: 181,493,494 (GRCm39)	V233A	probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pgr	C	T	9: 8,946,856 (GRCm39)	T699I	possibly damaging	Het
Pknox2	C	A	9: 36,806,602 (GRCm39)		probably null	Het
Ppp2r3d	T	C	9: 124,439,087 (GRCm38)	H110R		Het
Psmd11	T	A	11: 80,325,408 (GRCm39)		probably benign	Het
Pyroxd2	T	C	19: 42,736,001 (GRCm39)	N59S	probably benign	Het
Qser1	A	T	2: 104,588,921 (GRCm39)	D1662E	possibly damaging	Het
Rasip1	A	G	7: 45,278,239 (GRCm39)	Y180C	probably damaging	Het
Rbl1	T	C	2: 157,033,900 (GRCm39)	S393G	probably benign	Het
Rtn4r	C	T	16: 17,969,153 (GRCm39)	P194S	probably benign	Het
Ryr1	C	T	7: 28,798,210 (GRCm39)	G944D	probably damaging	Het
Scamp3	A	G	3: 89,085,298 (GRCm39)	D23G	probably damaging	Het
Secisbp2l	CTGGG	C	2: 125,613,465 (GRCm39)		probably benign	Het
Shcbp1	A	G	8: 4,789,232 (GRCm39)	I529T	probably damaging	Het
Slc5a10	T	A	11: 61,564,473 (GRCm39)	D502V	probably damaging	Het
Smad5	T	C	13: 56,880,855 (GRCm39)	I323T	possibly damaging	Het
Spred1	T	C	2: 117,007,930 (GRCm39)	S279P	probably benign	Het
Stag1	T	A	9: 100,826,880 (GRCm39)	V949D	possibly damaging	Het
Stxbp3	A	G	3: 108,708,144 (GRCm39)	S386P	probably benign	Het
Syt14	A	G	1: 192,666,632 (GRCm39)	S91P	unknown	Het
Thpo	C	T	16: 20,544,401 (GRCm39)	A211T	probably benign	Het
Tns1	T	A	1: 73,992,530 (GRCm39)	D716V	probably damaging	Het
Trbv26	A	G	6: 41,204,481 (GRCm39)	Y8C	probably benign	Het
Tshr	A	G	12: 91,505,044 (GRCm39)	I661V	probably damaging	Het
Uvrag	G	A	7: 98,628,928 (GRCm39)	P380S	probably damaging	Het
Vkorc1	G	T	7: 127,493,696 (GRCm39)	Y88*	probably null	Het
Vmn1r63	C	T	7: 5,806,369 (GRCm39)	V88M	probably damaging	Het
Wdsub1	A	G	2: 59,708,763 (GRCm39)	Y37H	probably damaging	Het
Zap70	A	G	1: 36,809,983 (GRCm39)	D31G	probably benign	Het
Zc3h12d	G	A	10: 7,743,390 (GRCm39)	A387T	probably benign	Het
Zfp438	C	T	18: 5,213,377 (GRCm39)	R527H	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
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	104,453,871 (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'- AACATTCCTTTCCAGGCTGG -3'
(R):5'- TAAGCTCGGTAAGTGTCGCC -3'

Sequencing Primer
(F):5'- TCCAGGCTGGAGATGCAG -3'
(R):5'- CCATACTCAACGGTGCTGC -3'

Posted On

2019-11-26