Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02536:Dspp'

297514

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dspp

Ensembl Gene

ENSMUSG00000053268

Gene Name

dentin sialophosphoprotein

Synonyms

Dpp, Dsp, Dmp3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02536

Quality Score

Status

Chromosome

Chromosomal Location

104318578-104327993 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 104323531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 225 (T225P)

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: T225P

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

SMART Domains

Protein: ENSMUSP00000108391
Gene: ENSMUSG00000053268
AA Change: T225P

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	T	A	3: 59,685,665 (GRCm39)		noncoding transcript	Het
Abca8b	C	T	11: 109,872,574 (GRCm39)	R9H	probably benign	Het
Adamts8	T	A	9: 30,873,368 (GRCm39)	S858T	probably benign	Het
Alg1	C	T	16: 5,057,023 (GRCm39)	Q245*	probably null	Het
Ankmy1	T	C	1: 92,813,910 (GRCm39)	Y423C	probably damaging	Het
Anp32a	A	T	9: 62,279,110 (GRCm39)	T55S	probably damaging	Het
Arhgef9	A	C	X: 94,102,443 (GRCm39)	V406G	probably damaging	Het
Bdkrb1	T	C	12: 105,571,259 (GRCm39)	F275S	possibly damaging	Het
Card9	C	T	2: 26,248,844 (GRCm39)	V102I	possibly damaging	Het
Ccdc81	A	T	7: 89,526,788 (GRCm39)		probably benign	Het
Cd101	T	A	3: 100,910,913 (GRCm39)	D915V	probably damaging	Het
Cdk10	A	G	8: 123,953,754 (GRCm39)	D77G	possibly damaging	Het
Ctnnd1	T	C	2: 84,435,540 (GRCm39)	T827A	probably benign	Het
Evpl	T	C	11: 116,112,035 (GRCm39)	E1885G	probably damaging	Het
Fstl4	C	T	11: 53,024,851 (GRCm39)		probably benign	Het
Gm5930	T	A	14: 44,575,015 (GRCm39)	N57I	probably damaging	Het
Gnl2	C	T	4: 124,946,401 (GRCm39)	Q541*	probably null	Het
Igkv3-1	T	C	6: 70,681,035 (GRCm39)	V78A	probably benign	Het
Inpp5a	T	C	7: 139,147,338 (GRCm39)	I321T	probably benign	Het
Kif20b	T	A	19: 34,951,959 (GRCm39)	S1746T	probably benign	Het
Lrrc8c	T	C	5: 105,755,038 (GRCm39)	I271T	probably benign	Het
Mrps10	T	C	17: 47,685,928 (GRCm39)	Y152H	probably damaging	Het
Myl9	C	T	2: 156,620,469 (GRCm39)	S2L	probably damaging	Het
Myof	A	T	19: 37,938,103 (GRCm39)	H870Q	probably damaging	Het
Nfatc4	A	T	14: 56,067,367 (GRCm39)	I456F	probably damaging	Het
Notch2	A	G	3: 98,009,723 (GRCm39)	H550R	probably benign	Het
Or13f5	T	A	4: 52,825,817 (GRCm39)	V140D	possibly damaging	Het
Or14j2	T	A	17: 37,885,817 (GRCm39)	I166F	probably damaging	Het
Or51v8	T	A	7: 103,320,164 (GRCm39)	I25F	possibly damaging	Het
Or8b47	T	C	9: 38,435,460 (GRCm39)	L144P	probably damaging	Het
P2rx1	A	T	11: 72,903,300 (GRCm39)	I230F	probably damaging	Het
Pcnt	A	G	10: 76,216,063 (GRCm39)	V2275A	possibly damaging	Het
Pip5k1a	G	A	3: 94,971,707 (GRCm39)	T465I	probably benign	Het
Pnkd	G	A	1: 74,391,059 (GRCm39)	R415H	probably damaging	Het
Prdx4	T	A	X: 154,115,443 (GRCm39)	I132F	probably damaging	Het
Pvr	A	G	7: 19,652,717 (GRCm39)	M66T	probably benign	Het
Rnf216	A	G	5: 143,065,995 (GRCm39)	I531T	probably benign	Het
Rps6ka4	A	T	19: 6,809,439 (GRCm39)	F405Y	probably damaging	Het
Serpinb2	A	G	1: 107,452,679 (GRCm39)		probably benign	Het
Sfxn1	A	G	13: 54,239,513 (GRCm39)	K12R	probably benign	Het
Slc17a7	A	G	7: 44,820,370 (GRCm39)	E275G	probably damaging	Het
Tnpo2	A	T	8: 85,771,696 (GRCm39)	I245F	probably benign	Het
Ush2a	A	T	1: 188,689,463 (GRCm39)		probably null	Het
Yju2b	A	T	8: 84,987,245 (GRCm39)	Y109*	probably null	Het
Zcchc4	C	T	5: 52,965,658 (GRCm39)	R321W	probably damaging	Het

Other mutations in Dspp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Dspp	APN	5	104,324,758 (GRCm39)	missense	possibly damaging	0.95
IGL01096:Dspp	APN	5	104,323,233 (GRCm39)	missense	possibly damaging	0.92
IGL01317:Dspp	APN	5	104,321,914 (GRCm39)	missense	probably damaging	0.99
IGL02365:Dspp	APN	5	104,323,927 (GRCm39)	missense	probably damaging	1.00
IGL02387:Dspp	APN	5	104,323,490 (GRCm39)	missense	possibly damaging	0.82
IGL02406:Dspp	APN	5	104,325,232 (GRCm39)	nonsense	probably null
IGL02445:Dspp	APN	5	104,324,963 (GRCm39)	missense	probably damaging	0.99
IGL02481:Dspp	APN	5	104,323,514 (GRCm39)	missense	possibly damaging	0.94
IGL02572:Dspp	APN	5	104,324,935 (GRCm39)	missense	probably damaging	0.99
IGL02677:Dspp	APN	5	104,323,843 (GRCm39)	missense	possibly damaging	0.78
IGL02709:Dspp	APN	5	104,325,116 (GRCm39)	missense	unknown
IGL02723:Dspp	APN	5	104,323,041 (GRCm39)	missense	probably benign	0.03
IGL02740:Dspp	APN	5	104,325,104 (GRCm39)	nonsense	probably null
IGL03274:Dspp	APN	5	104,322,814 (GRCm39)	missense	probably damaging	0.99
IGL03293:Dspp	APN	5	104,325,427 (GRCm39)	missense	unknown
FR4449:Dspp	UTSW	5	104,326,254 (GRCm39)	small deletion	probably benign
R0018:Dspp	UTSW	5	104,326,096 (GRCm39)	missense	unknown
R0125:Dspp	UTSW	5	104,325,905 (GRCm39)	missense	unknown
R0503:Dspp	UTSW	5	104,325,122 (GRCm39)	missense	unknown
R1709:Dspp	UTSW	5	104,323,590 (GRCm39)	missense	probably damaging	0.98
R1851:Dspp	UTSW	5	104,321,951 (GRCm39)	critical splice donor site	probably null
R2001:Dspp	UTSW	5	104,326,425 (GRCm39)	missense	unknown
R2002:Dspp	UTSW	5	104,326,425 (GRCm39)	missense	unknown
R2198:Dspp	UTSW	5	104,323,567 (GRCm39)	missense	probably benign	0.37
R2279:Dspp	UTSW	5	104,326,250 (GRCm39)	missense	unknown
R4026:Dspp	UTSW	5	104,325,563 (GRCm39)	missense	unknown
R4066:Dspp	UTSW	5	104,325,060 (GRCm39)	missense	unknown
R4632:Dspp	UTSW	5	104,325,272 (GRCm39)	missense	unknown
R4693:Dspp	UTSW	5	104,325,928 (GRCm39)	missense	unknown
R4841:Dspp	UTSW	5	104,325,053 (GRCm39)	missense	unknown
R4841:Dspp	UTSW	5	104,325,052 (GRCm39)	missense	unknown
R4917:Dspp	UTSW	5	104,325,789 (GRCm39)	missense	unknown
R5008:Dspp	UTSW	5	104,323,439 (GRCm39)	missense	possibly damaging	0.66
R5015:Dspp	UTSW	5	104,324,926 (GRCm39)	missense	possibly damaging	0.46
R5214:Dspp	UTSW	5	104,326,364 (GRCm39)	missense	unknown
R5359:Dspp	UTSW	5	104,323,752 (GRCm39)	missense	probably damaging	0.98
R5538:Dspp	UTSW	5	104,323,096 (GRCm39)	nonsense	probably null
R5703:Dspp	UTSW	5	104,324,917 (GRCm39)	missense	possibly damaging	0.82
R5887:Dspp	UTSW	5	104,323,321 (GRCm39)	missense	probably damaging	1.00
R5902:Dspp	UTSW	5	104,325,977 (GRCm39)	missense	unknown
R5992:Dspp	UTSW	5	104,326,317 (GRCm39)	missense	unknown
R6019:Dspp	UTSW	5	104,325,905 (GRCm39)	missense	unknown
R6191:Dspp	UTSW	5	104,325,214 (GRCm39)	missense	unknown
R6362:Dspp	UTSW	5	104,323,900 (GRCm39)	missense	probably benign	0.19
R6736:Dspp	UTSW	5	104,326,041 (GRCm39)	missense	unknown
R6805:Dspp	UTSW	5	104,323,716 (GRCm39)	missense	probably benign	0.03
R7064:Dspp	UTSW	5	104,324,804 (GRCm39)	missense	possibly damaging	0.73
R7178:Dspp	UTSW	5	104,321,932 (GRCm39)	missense	probably benign	0.02
R7243:Dspp	UTSW	5	104,326,227 (GRCm39)	small deletion	probably benign
R7390:Dspp	UTSW	5	104,323,552 (GRCm39)	missense	probably damaging	0.98
R7454:Dspp	UTSW	5	104,323,476 (GRCm39)	missense	probably benign	0.01
R7585:Dspp	UTSW	5	104,323,391 (GRCm39)	missense	possibly damaging	0.90
R7662:Dspp	UTSW	5	104,325,736 (GRCm39)	missense	unknown
R7739:Dspp	UTSW	5	104,326,012 (GRCm39)	missense	unknown
R7755:Dspp	UTSW	5	104,326,227 (GRCm39)	small deletion	probably benign
R7805:Dspp	UTSW	5	104,323,259 (GRCm39)	missense	probably damaging	0.99
R7869:Dspp	UTSW	5	104,323,531 (GRCm39)	missense	probably damaging	0.99
R7945:Dspp	UTSW	5	104,326,227 (GRCm39)	small deletion	probably benign
R7978:Dspp	UTSW	5	104,326,227 (GRCm39)	small deletion	probably benign
R8088:Dspp	UTSW	5	104,325,122 (GRCm39)	missense	unknown
R8254:Dspp	UTSW	5	104,323,194 (GRCm39)	missense	possibly damaging	0.94
R8257:Dspp	UTSW	5	104,324,867 (GRCm39)	missense	probably benign	0.01
R8439:Dspp	UTSW	5	104,325,162 (GRCm39)	missense	unknown
R8486:Dspp	UTSW	5	104,321,883 (GRCm39)	start gained	probably benign
R8722:Dspp	UTSW	5	104,326,433 (GRCm39)	missense	unknown
R8969:Dspp	UTSW	5	104,325,640 (GRCm39)	missense	unknown
R9254:Dspp	UTSW	5	104,322,760 (GRCm39)	critical splice acceptor site	probably null
R9379:Dspp	UTSW	5	104,322,760 (GRCm39)	critical splice acceptor site	probably null
R9509:Dspp	UTSW	5	104,325,657 (GRCm39)	missense	unknown
R9647:Dspp	UTSW	5	104,323,636 (GRCm39)	missense	possibly damaging	0.89
RF007:Dspp	UTSW	5	104,326,227 (GRCm39)	small deletion	probably benign
RF044:Dspp	UTSW	5	104,326,290 (GRCm39)	small insertion	probably benign

Posted On

2015-04-16