Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02709:Dspp'

304488

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dspp

Ensembl Gene

ENSMUSG00000053268

Gene Name

dentin sialophosphoprotein

Synonyms

Dmp3, Dsp, Dpp

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02709

Quality Score

Status

Chromosome

Chromosomal Location

104170712-104180127 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 104177250 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 493 (D493A)

Ref Sequence

ENSEMBL: ENSMUSP00000108391 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112771]

Predicted Effect

unknown
Transcript: ENSMUST00000112771
AA Change: D493A

SMART Domains

Protein: ENSMUSP00000108391
Gene: ENSMUSG00000053268
AA Change: D493A

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	52	67	N/A	INTRINSIC
internal_repeat_1	82	245	2.01e-11	PROSPERO
low complexity region	247	268	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
internal_repeat_1	285	438	2.01e-11	PROSPERO
internal_repeat_2	286	369	2.15e-10	PROSPERO
internal_repeat_2	370	454	2.15e-10	PROSPERO
low complexity region	456	472	N/A	INTRINSIC
low complexity region	481	944	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the small integrin-binding ligand N-linked glycoprotein (SIBLING) family of proteins. The encoded preproprotein is secreted by odontoblasts and proteolytically processed to generate two principal proteins of the dentin extracellular matrix of the tooth, dentin sialoprotein and dentin phosphoprotein. These two protein products may play distinct but related roles in dentin mineralization. Mice lacking the encoded protein exhibit hypomineralization defects in dentin, similar to human dentinogenesis imperfecta. [provided by RefSeq, Feb 2016]
PHENOTYPE: Aging mice homozygous for a reporter/null allele display tooth abnormalities, including enlarged pulp cavities, a widened predentin zone, dentin hypomineralization, pulp exposure, and occasional brittle incisors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	G	A	4: 40,180,199	V367M	possibly damaging	Het
Acsm5	G	A	7: 119,534,818	W274*	probably null	Het
Ago1	G	A	4: 126,453,640	Q135*	probably null	Het
AI314180	A	G	4: 58,872,699	S201P	possibly damaging	Het
Bmpr1b	A	T	3: 141,856,553	L291Q	probably damaging	Het
Cdcp1	A	G	9: 123,173,814	Y731H	probably damaging	Het
Clrn2	A	G	5: 45,460,153	N122S	probably damaging	Het
Col4a3	G	T	1: 82,679,112	G751W	unknown	Het
Ctsc	C	T	7: 88,308,139	A294V	probably damaging	Het
Cyp26a1	T	C	19: 37,699,978	L316P	probably damaging	Het
Dennd6b	A	T	15: 89,190,922		probably benign	Het
Dnah10	T	A	5: 124,773,745	Y1659*	probably null	Het
Dyrk1a	C	T	16: 94,685,243	A445V	probably benign	Het
E030025P04Rik	C	A	11: 109,139,498		probably benign	Het
Foxd4	T	C	19: 24,899,609	H409R	probably damaging	Het
Fubp3	A	G	2: 31,595,331		probably benign	Het
Gm5538	A	G	3: 59,747,198	Y151C	probably damaging	Het
Herc1	A	G	9: 66,497,680	K4511E	probably damaging	Het
Ifna1	A	G	4: 88,850,286	D67G	probably benign	Het
Map1lc3b	T	A	8: 121,596,029	L82Q	probably damaging	Het
Mcc	A	T	18: 44,445,810	S844T	possibly damaging	Het
Mccc1	A	T	3: 35,990,739	*85K	probably null	Het
Memo1	G	A	17: 74,245,032	L90F	probably damaging	Het
Mfrp	A	G	9: 44,103,264	H236R	probably benign	Het
Mmrn1	G	A	6: 60,973,046	D327N	probably damaging	Het
Mycbp2	T	C	14: 103,155,261	E3178G	probably damaging	Het
Pcsk9	A	G	4: 106,447,689		probably benign	Het
Pros1	T	C	16: 62,898,945	L110P	probably damaging	Het
Reck	A	G	4: 43,913,791	Y215C	probably damaging	Het
Ripk4	T	C	16: 97,743,566	D627G	probably damaging	Het
Rnf144a	G	T	12: 26,321,010	H151N	probably damaging	Het
Slc39a9	T	A	12: 80,666,647	H106Q	probably damaging	Het
Stab2	A	G	10: 86,846,165		probably benign	Het
Sympk	T	G	7: 19,047,538	H806Q	probably benign	Het
Tars2	C	A	3: 95,742,071		probably benign	Het
Thap3	T	A	4: 151,985,712	H75L	probably damaging	Het
Trappc8	T	C	18: 20,837,178	I918M	possibly damaging	Het
Ube2j2	T	C	4: 155,957,331	V249A	probably damaging	Het
Ubqln3	T	G	7: 104,141,336	T516P	probably benign	Het
Unc13c	A	G	9: 73,558,956	S1810P	probably benign	Het
Vmn1r4	T	A	6: 56,956,539	Y9*	probably null	Het
Vmn1r89	T	A	7: 13,220,204	M221K	probably damaging	Het
Vmn2r1	G	T	3: 64,104,934	V739F	probably benign	Het
Vmn2r25	C	T	6: 123,839,764	R286Q	possibly damaging	Het
Vmn2r91	T	A	17: 18,105,449	Y110N	possibly damaging	Het
Zbtb48	T	C	4: 152,021,394	H418R	probably damaging	Het

Other mutations in Dspp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Dspp	APN	5	104176892	missense	possibly damaging	0.95
IGL01096:Dspp	APN	5	104175367	missense	possibly damaging	0.92
IGL01317:Dspp	APN	5	104174048	missense	probably damaging	0.99
IGL02365:Dspp	APN	5	104176061	missense	probably damaging	1.00
IGL02387:Dspp	APN	5	104175624	missense	possibly damaging	0.82
IGL02406:Dspp	APN	5	104177366	nonsense	probably null
IGL02445:Dspp	APN	5	104177097	missense	probably damaging	0.99
IGL02481:Dspp	APN	5	104175648	missense	possibly damaging	0.94
IGL02536:Dspp	APN	5	104175665	missense	probably damaging	0.99
IGL02572:Dspp	APN	5	104177069	missense	probably damaging	0.99
IGL02677:Dspp	APN	5	104175977	missense	possibly damaging	0.78
IGL02723:Dspp	APN	5	104175175	missense	probably benign	0.03
IGL02740:Dspp	APN	5	104177238	nonsense	probably null
IGL03274:Dspp	APN	5	104174948	missense	probably damaging	0.99
IGL03293:Dspp	APN	5	104177561	missense	unknown
FR4449:Dspp	UTSW	5	104178388	small deletion	probably benign
R0018:Dspp	UTSW	5	104178230	missense	unknown
R0125:Dspp	UTSW	5	104178039	missense	unknown
R0503:Dspp	UTSW	5	104177256	missense	unknown
R1709:Dspp	UTSW	5	104175724	missense	probably damaging	0.98
R1851:Dspp	UTSW	5	104174085	critical splice donor site	probably null
R2001:Dspp	UTSW	5	104178559	missense	unknown
R2002:Dspp	UTSW	5	104178559	missense	unknown
R2198:Dspp	UTSW	5	104175701	missense	probably benign	0.37
R2279:Dspp	UTSW	5	104178384	missense	unknown
R4026:Dspp	UTSW	5	104177697	missense	unknown
R4066:Dspp	UTSW	5	104177194	missense	unknown
R4632:Dspp	UTSW	5	104177406	missense	unknown
R4693:Dspp	UTSW	5	104178062	missense	unknown
R4841:Dspp	UTSW	5	104177186	missense	unknown
R4841:Dspp	UTSW	5	104177187	missense	unknown
R4917:Dspp	UTSW	5	104177923	missense	unknown
R5008:Dspp	UTSW	5	104175573	missense	possibly damaging	0.66
R5015:Dspp	UTSW	5	104177060	missense	possibly damaging	0.46
R5214:Dspp	UTSW	5	104178498	missense	unknown
R5359:Dspp	UTSW	5	104175886	missense	probably damaging	0.98
R5538:Dspp	UTSW	5	104175230	nonsense	probably null
R5703:Dspp	UTSW	5	104177051	missense	possibly damaging	0.82
R5887:Dspp	UTSW	5	104175455	missense	probably damaging	1.00
R5902:Dspp	UTSW	5	104178111	missense	unknown
R5992:Dspp	UTSW	5	104178451	missense	unknown
R6019:Dspp	UTSW	5	104178039	missense	unknown
R6191:Dspp	UTSW	5	104177348	missense	unknown
R6362:Dspp	UTSW	5	104176034	missense	probably benign	0.19
R6736:Dspp	UTSW	5	104178175	missense	unknown
R6805:Dspp	UTSW	5	104175850	missense	probably benign	0.03
R7064:Dspp	UTSW	5	104176938	missense	possibly damaging	0.73
R7178:Dspp	UTSW	5	104174066	missense	probably benign	0.02
R7243:Dspp	UTSW	5	104178361	small deletion	probably benign
R7390:Dspp	UTSW	5	104175686	missense	probably damaging	0.98
R7454:Dspp	UTSW	5	104175610	missense	probably benign	0.01

Posted On

2015-04-16