Mutagenetix > Incidental Mutation

Incidental Mutation 'R0125:Dspp'

21279

Institutional Source

Beutler Lab

Gene Symbol

Dspp

Ensembl Gene

ENSMUSG00000053268

Gene Name

dentin sialophosphoprotein

Synonyms

Dpp, Dsp, Dmp3

MMRRC Submission

038410-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0125 (G1)

Quality Score

205

Status

Validated (trace)

Chromosome

Chromosomal Location

104318578-104327993 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 104325905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 756 (D756A)

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: D756A

SMART Domains

Protein: ENSMUSP00000108391
Gene: ENSMUSG00000053268
AA Change: D756A

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.1%

Validation Efficiency

98% (96/98)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	C	14: 70,394,096 (GRCm39)		probably benign	Het
Adam23	T	C	1: 63,573,515 (GRCm39)	L261P	probably benign	Het
Adgra3	G	A	5: 50,159,194 (GRCm39)		probably benign	Het
Agtr1b	A	G	3: 20,369,704 (GRCm39)	F301L	probably benign	Het
Ahnak2	G	A	12: 112,748,776 (GRCm39)	T357I	probably benign	Het
Aldh1a7	T	C	19: 20,704,430 (GRCm39)		probably benign	Het
Apoh	A	T	11: 108,302,899 (GRCm39)	N288I	probably damaging	Het
Arfgap3	A	G	15: 83,227,340 (GRCm39)	V24A	probably benign	Het
Atp6v0a1	A	G	11: 100,929,677 (GRCm39)		probably null	Het
Axl	A	T	7: 25,486,368 (GRCm39)	M112K	probably benign	Het
Bnc2	A	C	4: 84,211,169 (GRCm39)	I425S	probably damaging	Het
Ccn4	T	C	15: 66,789,194 (GRCm39)	S227P	possibly damaging	Het
Cdc42bpa	C	T	1: 179,788,763 (GRCm39)	T30M	probably damaging	Het
Cebpz	C	A	17: 79,227,317 (GRCm39)	R1051M	possibly damaging	Het
Ces1d	A	C	8: 93,901,810 (GRCm39)		probably benign	Het
Chd1l	T	C	3: 97,494,465 (GRCm39)	N405S	probably benign	Het
Chodl	G	T	16: 78,738,311 (GRCm39)	G93V	probably damaging	Het
Cpeb2	C	T	5: 43,395,743 (GRCm39)		probably benign	Het
Crebbp	A	G	16: 3,935,105 (GRCm39)		probably benign	Het
Crybb3	T	C	5: 113,227,675 (GRCm39)	T49A	possibly damaging	Het
Ctps1	A	G	4: 120,418,722 (GRCm39)		probably benign	Het
Cyp26b1	A	G	6: 84,551,497 (GRCm39)	Y240H	probably damaging	Het
Cyp2d11	A	C	15: 82,273,422 (GRCm39)	V483G	probably benign	Het
Dennd2b	T	C	7: 109,155,545 (GRCm39)	K402E	probably benign	Het
Dnah14	A	T	1: 181,579,628 (GRCm39)	N3054Y	probably damaging	Het
Dst	T	C	1: 34,309,984 (GRCm39)	S1553P	probably damaging	Het
Elp4	A	G	2: 105,622,559 (GRCm39)		probably null	Het
Eml6	G	T	11: 29,832,088 (GRCm39)	T194K	probably benign	Het
Evi5	A	G	5: 107,943,638 (GRCm39)	I569T	probably benign	Het
Fancm	C	T	12: 65,168,730 (GRCm39)	P1698S	possibly damaging	Het
Fhdc1	T	C	3: 84,352,852 (GRCm39)	D791G	probably benign	Het
Frem1	A	G	4: 82,930,188 (GRCm39)	Y253H	probably damaging	Het
Gpn3	A	G	5: 122,519,481 (GRCm39)	Y196C	probably benign	Het
Hcls1	A	G	16: 36,782,525 (GRCm39)	D398G	probably benign	Het
Hydin	T	C	8: 111,189,163 (GRCm39)	V1189A	probably benign	Het
Itgb3	G	A	11: 104,534,789 (GRCm39)	D549N	probably damaging	Het
Itpr2	A	G	6: 146,141,951 (GRCm39)	F1697S	probably benign	Het
Klk1b11	A	G	7: 43,648,475 (GRCm39)	T161A	probably benign	Het
Kntc1	G	A	5: 123,903,120 (GRCm39)		probably benign	Het
Map3k19	A	T	1: 127,750,837 (GRCm39)	F838Y	probably benign	Het
Map6	T	A	7: 98,985,187 (GRCm39)		probably null	Het
Mcrs1	A	G	15: 99,142,608 (GRCm39)		probably benign	Het
Mdn1	A	T	4: 32,729,956 (GRCm39)	Y2766F	probably damaging	Het
Med23	C	T	10: 24,776,686 (GRCm39)	H739Y	probably damaging	Het
Mmp17	T	A	5: 129,671,646 (GRCm39)	D65E	possibly damaging	Het
Mmp9	T	A	2: 164,793,177 (GRCm39)	L442Q	probably damaging	Het
Myo19	T	C	11: 84,779,001 (GRCm39)		probably benign	Het
Nedd1	A	C	10: 92,527,791 (GRCm39)	S468A	possibly damaging	Het
Niban2	T	A	2: 32,813,833 (GRCm39)	V682D	probably benign	Het
Nlrp4d	A	C	7: 10,116,316 (GRCm39)	V152G	probably damaging	Het
Nxf1	T	A	19: 8,740,170 (GRCm39)	D112E	probably benign	Het
Oas1h	A	T	5: 121,000,626 (GRCm39)	K79*	probably null	Het
Omg	T	A	11: 79,393,679 (GRCm39)	I60F	possibly damaging	Het
Or5p69	A	G	7: 107,967,576 (GRCm39)	Y293C	probably damaging	Het
Or8b101	A	G	9: 38,020,815 (GRCm39)	T278A	probably benign	Het
Or8b1b	T	A	9: 38,375,757 (GRCm39)	L140*	probably null	Het
Pck1	G	A	2: 172,997,874 (GRCm39)	W314*	probably null	Het
Pla2g15	T	C	8: 106,889,756 (GRCm39)	Y343H	probably benign	Het
Plcb3	T	C	19: 6,936,276 (GRCm39)	E749G	probably damaging	Het
Plgrkt	A	G	19: 29,328,442 (GRCm39)		probably null	Het
Pprc1	A	G	19: 46,057,951 (GRCm39)		probably benign	Het
Prkdc	A	T	16: 15,516,871 (GRCm39)	I1082F	probably damaging	Het
Rapgef6	T	A	11: 54,516,701 (GRCm39)	Y172*	probably null	Het
Ros1	G	T	10: 52,001,885 (GRCm39)	A1079D	probably benign	Het
Sap30	T	C	8: 57,938,545 (GRCm39)	E147G	probably null	Het
Sell	T	C	1: 163,899,674 (GRCm39)		probably benign	Het
Senp1	A	T	15: 97,946,112 (GRCm39)	D544E	probably damaging	Het
Shpk	G	A	11: 73,105,048 (GRCm39)		probably benign	Het
Slc35b1	A	T	11: 95,277,353 (GRCm39)	T74S	probably benign	Het
Slc6a3	T	A	13: 73,718,098 (GRCm39)		probably benign	Het
Slf1	T	C	13: 77,191,864 (GRCm39)	N990S	probably benign	Het
Smgc	A	G	15: 91,738,746 (GRCm39)		probably benign	Het
Snx19	T	A	9: 30,351,515 (GRCm39)	V861D	probably damaging	Het
Sprr2e	C	T	3: 92,260,285 (GRCm39)	P39S	unknown	Het
Sstr2	T	A	11: 113,515,303 (GRCm39)	M74K	probably damaging	Het
Svep1	T	C	4: 58,099,937 (GRCm39)		probably benign	Het
Tas2r143	A	G	6: 42,377,889 (GRCm39)	I240V	probably benign	Het
Tbrg1	T	C	9: 37,563,937 (GRCm39)	I233V	probably benign	Het
Tecpr1	G	T	5: 144,134,717 (GRCm39)	D1055E	probably damaging	Het
Thap2	A	T	10: 115,212,277 (GRCm39)		probably null	Het
Tinagl1	A	G	4: 130,060,101 (GRCm39)	Y388H	probably damaging	Het
Ttn	T	A	2: 76,585,896 (GRCm39)	Y21945F	probably damaging	Het
Ugt2b1	A	T	5: 87,073,961 (GRCm39)	W133R	probably benign	Het
Usp24	C	T	4: 106,254,496 (GRCm39)	P1491L	possibly damaging	Het
Utp15	A	G	13: 98,387,390 (GRCm39)	S395P	possibly damaging	Het
Vav1	T	A	17: 57,606,847 (GRCm39)	L254Q	probably damaging	Het
Vmn2r104	T	C	17: 20,250,069 (GRCm39)	Y734C	probably damaging	Het
Vps8	T	A	16: 21,288,904 (GRCm39)	V421E	probably benign	Het
Xkr7	G	T	2: 152,874,346 (GRCm39)	A138S	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GCAGCAGCAGTAGCAACAGCA -3'
(R):5'- GCCTTCACTGTCACTGTCACTGTCA -3'

Sequencing Primer
(F):5'- agtagcaacagcagtgacag -3'
(R):5'- ctgtcactgttgccattacc -3'

Posted On

2013-04-11