Mutagenetix > Incidental Mutation

Incidental Mutation 'R1440:Ibsp'

160923

Institutional Source

Beutler Lab

Gene Symbol

Ibsp

Ensembl Gene

ENSMUSG00000029306

Gene Name

integrin binding sialoprotein

Synonyms

Bsp2, bone sialoprotein, BSP, Bsp

MMRRC Submission

039495-MU

Accession Numbers

Essential gene?

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

Stock #

R1440 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104447153-104459338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104458405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 314 (G314D)

Ref Sequence

ENSEMBL: ENSMUSP00000031246 (fasta)

Gene Model

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

AlphaFold

Q61711

Predicted Effect

unknown
Transcript: ENSMUST00000031246
AA Change: G314D

SMART Domains

Protein: ENSMUSP00000031246
Gene: ENSMUSG00000029306
AA Change: G314D

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

0.1688

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 84.7%

Validation Efficiency

95% (94/99)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	T	G	12: 72,928,195 (GRCm39)	N512T	possibly damaging	Het
Aadacl2	A	T	3: 59,932,313 (GRCm39)	H276L	probably damaging	Het
Adam12	G	A	7: 133,533,543 (GRCm39)	T445M	probably benign	Het
Ash2l	A	T	8: 26,317,406 (GRCm39)	F290L	probably benign	Het
Asxl3	C	T	18: 22,658,281 (GRCm39)	P2097L	probably benign	Het
Atmin	A	G	8: 117,684,115 (GRCm39)	I592V	probably damaging	Het
Atxn2	T	C	5: 121,941,145 (GRCm39)		probably null	Het
BC004004	T	C	17: 29,515,665 (GRCm39)		probably null	Het
Cacna1e	T	C	1: 154,437,552 (GRCm39)	N328S	possibly damaging	Het
Cacna2d1	A	T	5: 16,560,493 (GRCm39)	K765I	probably damaging	Het
Cc2d1a	A	G	8: 84,860,604 (GRCm39)		probably null	Het
Ccdc28b	A	G	4: 129,514,408 (GRCm39)	V198A	probably benign	Het
Ces1b	G	T	8: 93,794,736 (GRCm39)	R288S	probably damaging	Het
Cfap100	T	G	6: 90,389,166 (GRCm39)	T198P	probably benign	Het
Clint1	T	C	11: 45,781,610 (GRCm39)	S227P	probably damaging	Het
Cntn5	C	A	9: 10,145,344 (GRCm39)	C122F	probably damaging	Het
Col3a1	A	G	1: 45,382,472 (GRCm39)		probably null	Het
Cyp4a10	A	C	4: 115,386,646 (GRCm39)	D431A	probably damaging	Het
Cyp4f16	CTATG	CTATGTATG	17: 32,769,708 (GRCm39)		probably null	Het
Dlc1	A	T	8: 37,060,617 (GRCm39)		probably benign	Het
Dlgap2	T	C	8: 14,777,060 (GRCm39)	S102P	probably benign	Het
Dnah7b	G	A	1: 46,117,753 (GRCm39)		probably benign	Het
Dock10	A	C	1: 80,526,853 (GRCm39)	S1124A	probably benign	Het
Dscam	C	T	16: 96,621,151 (GRCm39)	R519H	probably damaging	Het
Efcab3	A	T	11: 104,999,581 (GRCm39)		probably benign	Het
Evi2a	G	T	11: 79,418,096 (GRCm39)	N171K	probably damaging	Het
Fbxl15	T	C	19: 46,318,684 (GRCm39)	L286P	probably damaging	Het
Fpr1	T	A	17: 18,097,525 (GRCm39)	I155F	probably benign	Het
Gcat	C	T	15: 78,918,194 (GRCm39)	A84V	probably null	Het
Gls	A	G	1: 52,230,293 (GRCm39)	F473L	possibly damaging	Het
Gnat1	T	C	9: 107,554,164 (GRCm39)	D169G	probably damaging	Het
Grm3	A	C	5: 9,639,958 (GRCm39)	M29R	probably benign	Het
Herc1	A	T	9: 66,375,085 (GRCm39)	D3303V	probably damaging	Het
Irag2	C	T	6: 145,120,237 (GRCm39)	T484M	possibly damaging	Het
Lgr6	C	A	1: 134,915,210 (GRCm39)	A513S	probably damaging	Het
Lrriq4	T	A	3: 30,704,910 (GRCm39)	C313S	probably damaging	Het
Marchf10	G	T	11: 105,281,409 (GRCm39)	T292K	probably damaging	Het
Mcoln2	C	A	3: 145,896,137 (GRCm39)	Y6*	probably null	Het
Mup4	A	G	4: 59,958,076 (GRCm39)	I164T	probably damaging	Het
Myo1b	T	C	1: 51,817,717 (GRCm39)		probably benign	Het
Ncam1	A	G	9: 49,456,100 (GRCm39)	I506T	probably damaging	Het
Notch1	A	T	2: 26,370,976 (GRCm39)		probably benign	Het
Nr4a3	A	T	4: 48,051,777 (GRCm39)	Q177L	probably benign	Het
Nsun4	A	G	4: 115,910,147 (GRCm39)	S138P	possibly damaging	Het
Or1a1	A	G	11: 74,086,505 (GRCm39)	M59V	probably damaging	Het
Or2b6	G	T	13: 21,823,560 (GRCm39)	N44K	probably benign	Het
Or2d36	A	T	7: 106,747,405 (GRCm39)	N294I	probably damaging	Het
Or4k5	T	C	14: 50,385,815 (GRCm39)	N172S	probably damaging	Het
Pagr1a	A	T	7: 126,615,469 (GRCm39)		probably benign	Het
Pcdhb2	A	T	18: 37,429,343 (GRCm39)	I82L	probably benign	Het
Pds5b	A	T	5: 150,677,882 (GRCm39)	N500I	probably damaging	Het
Pik3r6	A	T	11: 68,422,271 (GRCm39)	E223D	possibly damaging	Het
Pkhd1l1	A	T	15: 44,404,384 (GRCm39)		probably benign	Het
Prex1	T	C	2: 166,422,383 (GRCm39)	D1204G	probably damaging	Het
Prickle1	C	T	15: 93,402,955 (GRCm39)	E244K	possibly damaging	Het
Ptprd	A	T	4: 76,002,789 (GRCm39)	V211E	probably damaging	Het
Rad51d	G	A	11: 82,781,179 (GRCm39)	R23*	probably null	Het
Rapgef6	G	A	11: 54,517,534 (GRCm39)	G262R	probably damaging	Het
Reln	A	G	5: 22,333,600 (GRCm39)		probably benign	Het
Rev1	T	C	1: 38,127,286 (GRCm39)	T325A	probably damaging	Het
Rnd3	T	A	2: 51,022,518 (GRCm39)	I175L	probably benign	Het
Rp1	C	A	1: 4,417,619 (GRCm39)	L1164F	probably damaging	Het
S100a7a	T	C	3: 90,562,942 (GRCm39)	V43A	probably benign	Het
Scaper	A	C	9: 55,510,202 (GRCm39)	Y1104*	probably null	Het
Scn2a	T	A	2: 65,594,938 (GRCm39)	V1929D	probably benign	Het
Scn3a	T	C	2: 65,359,785 (GRCm39)	N141S	possibly damaging	Het
Slc12a7	T	G	13: 73,949,127 (GRCm39)	L718R	probably damaging	Het
Slc15a2	T	C	16: 36,605,005 (GRCm39)		probably benign	Het
Slc35b3	G	A	13: 39,138,110 (GRCm39)	Q100*	probably null	Het
Slc9a5	T	A	8: 106,081,785 (GRCm39)	V170E	possibly damaging	Het
Snx5	T	G	2: 144,096,731 (GRCm39)	K278T	possibly damaging	Het
Sorbs2	T	C	8: 46,243,000 (GRCm39)		probably benign	Het
Stab1	C	T	14: 30,873,647 (GRCm39)	W1008*	probably null	Het
Stab2	C	T	10: 86,697,231 (GRCm39)		probably null	Het
Tacc3	A	G	5: 33,825,321 (GRCm39)	E377G	probably benign	Het
Tango6	T	C	8: 107,415,671 (GRCm39)	L164P	probably damaging	Het
Tbc1d12	T	A	19: 38,902,796 (GRCm39)	S570T	possibly damaging	Het
Thbs1	T	C	2: 117,944,836 (GRCm39)	F217L	probably damaging	Het
Tmbim6	T	A	15: 99,300,004 (GRCm39)	V40E	probably damaging	Het
Tmigd1	A	T	11: 76,800,986 (GRCm39)	N158Y	probably damaging	Het
Top3b	C	T	16: 16,710,641 (GRCm39)	R824*	probably null	Het
Tram1l1	A	T	3: 124,115,580 (GRCm39)	K247*	probably null	Het
Tsc2	T	C	17: 24,833,366 (GRCm39)	Y686C	probably damaging	Het
Tsga10	T	C	1: 37,858,680 (GRCm39)	Q218R	probably damaging	Het
Uba6	G	T	5: 86,288,282 (GRCm39)	A439D	probably damaging	Het
Ubn1	C	A	16: 4,895,158 (GRCm39)	P735T	probably damaging	Het
Usp40	A	G	1: 87,909,808 (GRCm39)	S549P	probably benign	Het
Utp20	T	C	10: 88,655,201 (GRCm39)	T176A	probably benign	Het
Utp4	T	G	8: 107,624,685 (GRCm39)		probably benign	Het
Xpo5	C	T	17: 46,518,853 (GRCm39)		probably benign	Het
Zfp979	A	T	4: 147,698,493 (GRCm39)	I72K	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
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

PCR Primer
(F):5'- TGTCCTTCTGAACGGGTTTCAGC -3'
(R):5'- AGCCTTCTTATACAGGGTATGTTTGCG -3'

Sequencing Primer
(F):5'- ACGGGTTTCAGCAGACAAC -3'
(R):5'- CATTTGCGGAAATCACTCTGG -3'

Posted On

2014-03-14