Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02709:Dspp'

304488

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 #

IGL02709

Quality Score

Status

Chromosome

Chromosomal Location

104318578-104327993 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 104325116 bp (GRCm39)

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]

AlphaFold

no structure available at present

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
Aadacl2fm2	A	G	3: 59,654,619 (GRCm39)	Y151C	probably damaging	Het
Aco1	G	A	4: 40,180,199 (GRCm39)	V367M	possibly damaging	Het
Acsm5	G	A	7: 119,134,041 (GRCm39)	W274*	probably null	Het
Ago1	G	A	4: 126,347,433 (GRCm39)	Q135*	probably null	Het
Bmpr1b	A	T	3: 141,562,314 (GRCm39)	L291Q	probably damaging	Het
Cdcp1	A	G	9: 123,002,879 (GRCm39)	Y731H	probably damaging	Het
Clrn2	A	G	5: 45,617,495 (GRCm39)	N122S	probably damaging	Het
Col4a3	G	T	1: 82,656,833 (GRCm39)	G751W	unknown	Het
Ctsc	C	T	7: 87,957,347 (GRCm39)	A294V	probably damaging	Het
Cyp26a1	T	C	19: 37,688,426 (GRCm39)	L316P	probably damaging	Het
Dennd6b	A	T	15: 89,075,125 (GRCm39)		probably benign	Het
Dnah10	T	A	5: 124,850,809 (GRCm39)	Y1659*	probably null	Het
Dyrk1a	C	T	16: 94,486,102 (GRCm39)	A445V	probably benign	Het
E030025P04Rik	C	A	11: 109,030,324 (GRCm39)		probably benign	Het
Ecpas	A	G	4: 58,872,699 (GRCm39)	S201P	possibly damaging	Het
Foxd4	T	C	19: 24,876,973 (GRCm39)	H409R	probably damaging	Het
Fubp3	A	G	2: 31,485,343 (GRCm39)		probably benign	Het
Herc1	A	G	9: 66,404,962 (GRCm39)	K4511E	probably damaging	Het
Ifna1	A	G	4: 88,768,523 (GRCm39)	D67G	probably benign	Het
Map1lc3b	T	A	8: 122,322,768 (GRCm39)	L82Q	probably damaging	Het
Mcc	A	T	18: 44,578,877 (GRCm39)	S844T	possibly damaging	Het
Mccc1	A	T	3: 36,044,888 (GRCm39)	*85K	probably null	Het
Memo1	G	A	17: 74,552,027 (GRCm39)	L90F	probably damaging	Het
Mfrp	A	G	9: 44,014,561 (GRCm39)	H236R	probably benign	Het
Mmrn1	G	A	6: 60,950,030 (GRCm39)	D327N	probably damaging	Het
Mycbp2	T	C	14: 103,392,697 (GRCm39)	E3178G	probably damaging	Het
Pcsk9	A	G	4: 106,304,886 (GRCm39)		probably benign	Het
Pros1	T	C	16: 62,719,308 (GRCm39)	L110P	probably damaging	Het
Reck	A	G	4: 43,913,791 (GRCm39)	Y215C	probably damaging	Het
Ripk4	T	C	16: 97,544,766 (GRCm39)	D627G	probably damaging	Het
Rnf144a	G	T	12: 26,371,009 (GRCm39)	H151N	probably damaging	Het
Slc39a9	T	A	12: 80,713,421 (GRCm39)	H106Q	probably damaging	Het
Stab2	A	G	10: 86,682,029 (GRCm39)		probably benign	Het
Sympk	T	G	7: 18,781,463 (GRCm39)	H806Q	probably benign	Het
Tars2	C	A	3: 95,649,383 (GRCm39)		probably benign	Het
Thap3	T	A	4: 152,070,169 (GRCm39)	H75L	probably damaging	Het
Trappc8	T	C	18: 20,970,235 (GRCm39)	I918M	possibly damaging	Het
Ube2j2	T	C	4: 156,041,788 (GRCm39)	V249A	probably damaging	Het
Ubqln3	T	G	7: 103,790,543 (GRCm39)	T516P	probably benign	Het
Unc13c	A	G	9: 73,466,238 (GRCm39)	S1810P	probably benign	Het
Vmn1r4	T	A	6: 56,933,524 (GRCm39)	Y9*	probably null	Het
Vmn1r89	T	A	7: 12,954,131 (GRCm39)	M221K	probably damaging	Het
Vmn2r1	G	T	3: 64,012,355 (GRCm39)	V739F	probably benign	Het
Vmn2r25	C	T	6: 123,816,723 (GRCm39)	R286Q	possibly damaging	Het
Vmn2r91	T	A	17: 18,325,711 (GRCm39)	Y110N	possibly damaging	Het
Zbtb48	T	C	4: 152,105,851 (GRCm39)	H418R	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
IGL02536:Dspp	APN	5	104,323,531 (GRCm39)	missense	probably damaging	0.99
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
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