Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02445:Dspp'

293569

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dspp

Ensembl Gene

ENSMUSG00000053268

Gene Name

dentin sialophosphoprotein

Synonyms

Dmp3, Dsp, Dpp

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02445

Quality Score

Status

Chromosome

Chromosomal Location

104170712-104180127 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 104177097 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 442 (Y442S)

Ref Sequence

ENSEMBL: ENSMUSP00000108391 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000112771
AA Change: Y442S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108391
Gene: ENSMUSG00000053268
AA Change: Y442S

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
4930432K21Rik	T	A	8: 84,159,508	M31K	probably benign	Het
Acacb	C	T	5: 114,245,137	T2127M	probably damaging	Het
Acp2	A	G	2: 91,206,261	D175G	possibly damaging	Het
Adamts12	T	C	15: 11,286,712	L801P	probably damaging	Het
Adcy10	T	G	1: 165,570,744	V1470G	possibly damaging	Het
Ankar	T	G	1: 72,666,365	K829Q	probably benign	Het
Arhgef10l	T	C	4: 140,547,007	Y531C	probably benign	Het
Atm	T	C	9: 53,454,330	I2590V	probably benign	Het
Cblb	T	C	16: 52,166,305	L485P	probably damaging	Het
Col4a1	T	C	8: 11,233,911		probably benign	Het
Coprs	T	C	8: 13,885,797	K74R	possibly damaging	Het
Cul3	A	T	1: 80,304,169	L31M	possibly damaging	Het
Cyp3a59	C	A	5: 146,096,653	Q200K	probably benign	Het
Ddx19b	C	A	8: 111,008,824	V402L	probably damaging	Het
Disc1	T	A	8: 125,148,403		probably benign	Het
Dsg4	C	T	18: 20,446,250		probably benign	Het
Dtl	C	T	1: 191,558,060		probably null	Het
Ezh1	A	C	11: 101,210,687	V175G	possibly damaging	Het
Hepacam2	C	T	6: 3,483,481	G100D	probably damaging	Het
Herc1	T	A	9: 66,433,482	H1704Q	possibly damaging	Het
Kif26a	T	C	12: 112,173,743	S469P	probably damaging	Het
Lefty1	T	C	1: 180,937,677	M270T	probably benign	Het
Nap1l3	A	T	X: 122,396,055	V322D	probably damaging	Het
Ndufv2	A	G	17: 66,080,894		probably benign	Het
Olfr1179	G	A	2: 88,402,112	T274I	possibly damaging	Het
Olfr126	A	T	17: 37,851,117	H175L	probably damaging	Het
Olfr922	T	C	9: 38,815,605	I34T	possibly damaging	Het
Otol1	A	T	3: 70,028,034	D453V	probably damaging	Het
Papolb	G	A	5: 142,528,725	H388Y	probably benign	Het
Ppp1r10	A	G	17: 35,926,202	E128G	probably damaging	Het
Prss12	T	A	3: 123,487,020	D451E	probably damaging	Het
Psmc1	T	C	12: 100,114,828		probably benign	Het
Pygo1	T	A	9: 72,925,940	I10N	probably benign	Het
Rab31	C	T	17: 65,722,003		probably null	Het
Ret	G	A	6: 118,181,899	T184I	probably damaging	Het
Rhd	A	T	4: 134,884,170	M214L	possibly damaging	Het
Ripor3	C	A	2: 167,992,762		probably benign	Het
Sec16a	A	G	2: 26,422,040	L2036P	probably benign	Het
Slc26a3	C	A	12: 31,457,052	D335E	possibly damaging	Het
Ssfa2	G	A	2: 79,657,498	E642K	probably damaging	Het
Taf6	A	G	5: 138,184,494		probably benign	Het
Tnk2	T	C	16: 32,675,590	V442A	probably benign	Het
Virma	A	G	4: 11,527,029	M1143V	probably damaging	Het
Vmn2r77	A	T	7: 86,803,640	R522*	probably null	Het
Vmn2r-ps129	A	G	17: 23,008,419		noncoding transcript	Het
Zfp473	A	G	7: 44,733,683	C408R	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
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
IGL02709:Dspp	APN	5	104177250	missense	unknown
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
R7585:Dspp	UTSW	5	104175525	missense	possibly damaging	0.90
R7662:Dspp	UTSW	5	104177870	missense	unknown
R7739:Dspp	UTSW	5	104178146	missense	unknown
R7755:Dspp	UTSW	5	104178361	small deletion	probably benign
R7805:Dspp	UTSW	5	104175393	missense	probably damaging	0.99
R7869:Dspp	UTSW	5	104175665	missense	probably damaging	0.99
R7945:Dspp	UTSW	5	104178361	small deletion	probably benign
R7978:Dspp	UTSW	5	104178361	small deletion	probably benign
R8088:Dspp	UTSW	5	104177256	missense	unknown
R8254:Dspp	UTSW	5	104175328	missense	possibly damaging	0.94
R8257:Dspp	UTSW	5	104177001	missense	probably benign	0.01
R8439:Dspp	UTSW	5	104177296	missense	unknown
R8486:Dspp	UTSW	5	104174017	start gained	probably benign
R8722:Dspp	UTSW	5	104178567	missense	unknown
R8969:Dspp	UTSW	5	104177774	missense	unknown
R9254:Dspp	UTSW	5	104174894	critical splice acceptor site	probably null
R9379:Dspp	UTSW	5	104174894	critical splice acceptor site	probably null
R9509:Dspp	UTSW	5	104177791	missense	unknown
R9647:Dspp	UTSW	5	104175770	missense	possibly damaging	0.89
RF007:Dspp	UTSW	5	104178361	small deletion	probably benign
RF044:Dspp	UTSW	5	104178424	small insertion	probably benign

Posted On

2015-04-16