Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02406:Dspp'

292075

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 #

IGL02406

Quality Score

Status

Chromosome

Chromosomal Location

104318578-104327993 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 104325232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 532 (E532*)

Ref Sequence

ENSEMBL: ENSMUSP00000108391 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000112771
AA Change: E532*

SMART Domains

Protein: ENSMUSP00000108391
Gene: ENSMUSG00000053268
AA Change: E532*

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	T	7: 120,139,825 (GRCm39)	A1496S	probably damaging	Het
Abra	A	T	15: 41,732,583 (GRCm39)	V161E	probably damaging	Het
Adcy4	G	A	14: 56,007,504 (GRCm39)	T942I	possibly damaging	Het
Atrip	A	G	9: 108,894,487 (GRCm39)	V480A	probably damaging	Het
Azin1	A	T	15: 38,491,809 (GRCm39)	D382E	probably benign	Het
BC034090	G	T	1: 155,100,899 (GRCm39)	A455E	probably benign	Het
Clstn1	A	G	4: 149,711,816 (GRCm39)	Y121C	probably damaging	Het
Cpq	T	A	15: 33,302,654 (GRCm39)	N268K	probably damaging	Het
Cpsf7	A	G	19: 10,509,352 (GRCm39)	S88G	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp2j11	G	A	4: 96,236,776 (GRCm39)	A10V	possibly damaging	Het
Dock4	T	C	12: 40,827,206 (GRCm39)	V983A	probably benign	Het
Ercc4	G	T	16: 12,941,400 (GRCm39)	D243Y	probably damaging	Het
Fars2	C	A	13: 36,594,145 (GRCm39)	D383E	probably benign	Het
Fip1l1	A	G	5: 74,725,205 (GRCm39)	T280A	probably benign	Het
Gcgr	T	G	11: 120,428,010 (GRCm39)	N292K	probably damaging	Het
Gtpbp4	T	A	13: 9,041,786 (GRCm39)	K85M	possibly damaging	Het
Jhy	A	G	9: 40,822,285 (GRCm39)	Y618H	probably damaging	Het
Mbd4	A	T	6: 115,825,986 (GRCm39)	I314N	possibly damaging	Het
Mbtd1	C	T	11: 93,799,684 (GRCm39)	T70M	probably damaging	Het
Mki67	T	C	7: 135,300,522 (GRCm39)	H1504R	probably benign	Het
Mks1	T	C	11: 87,753,611 (GRCm39)	V515A	probably benign	Het
Msantd2	G	T	9: 37,434,755 (GRCm39)	V332L	probably damaging	Het
Myrip	A	T	9: 120,296,598 (GRCm39)	T836S	probably benign	Het
Nbea	T	C	3: 55,993,687 (GRCm39)	I238V	probably benign	Het
Plekhh1	T	C	12: 79,115,783 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,488,399 (GRCm39)	N507S	probably benign	Het
Prss12	G	A	3: 123,299,123 (GRCm39)	V632I	possibly damaging	Het
Puf60	A	G	15: 75,946,458 (GRCm39)	S121P	probably damaging	Het
Raet1e	G	A	10: 22,056,535 (GRCm39)	C37Y	probably damaging	Het
Ralgps2	G	T	1: 156,655,838 (GRCm39)	A362E	possibly damaging	Het
Scn1a	A	G	2: 66,156,380 (GRCm39)	S510P	possibly damaging	Het
Skap2	A	C	6: 51,851,453 (GRCm39)		probably null	Het
Slc4a10	G	A	2: 62,021,113 (GRCm39)	V54M	probably benign	Het
Spata17	A	G	1: 186,849,458 (GRCm39)		probably null	Het
Stoml3	T	A	3: 53,410,671 (GRCm39)	N128K	probably damaging	Het
Tatdn2	T	A	6: 113,681,174 (GRCm39)	S402R	probably benign	Het
Tmprss11f	A	G	5: 86,681,525 (GRCm39)	W243R	probably damaging	Het
Vmn2r32	A	G	7: 7,479,709 (GRCm39)	Y155H	probably benign	Het
Vmn2r86	T	A	10: 130,284,508 (GRCm39)	T528S	possibly damaging	Het
Zfhx3	C	T	8: 109,682,374 (GRCm39)	A3271V	unknown	Het
Zkscan3	T	C	13: 21,572,348 (GRCm39)	N428S	possibly damaging	Het
Zxdc	A	G	6: 90,375,818 (GRCm39)	S765G	probably benign	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
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
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