Mutagenetix > Incidental Mutation

Incidental Mutation 'R4917:Dspp'

378283

Institutional Source

Beutler Lab

Gene Symbol

Dspp

Ensembl Gene

ENSMUSG00000053268

Gene Name

dentin sialophosphoprotein

Synonyms

Dpp, Dsp, Dmp3

MMRRC Submission

042519-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4917 (G1)

Quality Score

140

Status

Validated

Chromosome

Chromosomal Location

104318578-104327993 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 104325789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 717 (D717E)

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: D717E

SMART Domains

Protein: ENSMUSP00000108391
Gene: ENSMUSG00000053268
AA Change: D717E

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

0.0651

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

97% (111/114)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,658,996 (GRCm39)	V2783I	probably benign	Het
Ago4	A	C	4: 126,400,635 (GRCm39)	C693G	probably damaging	Het
Apobec2	T	C	17: 48,730,153 (GRCm39)	E171G	probably benign	Het
Arfgef3	T	A	10: 18,492,638 (GRCm39)	I1258F	probably damaging	Het
Arhgef40	A	G	14: 52,227,556 (GRCm39)	E434G	probably damaging	Het
Bcas1	T	C	2: 170,220,806 (GRCm39)	D324G	probably damaging	Het
Bdp1	A	T	13: 100,191,713 (GRCm39)	V1422E	probably damaging	Het
Bfsp1	C	T	2: 143,669,391 (GRCm39)	R396Q	probably benign	Het
Bpifb9b	T	A	2: 154,156,026 (GRCm39)		probably null	Het
Cacna1s	T	A	1: 136,029,302 (GRCm39)		probably null	Het
Casp8	T	C	1: 58,866,377 (GRCm39)	F126S	probably damaging	Het
Cdh26	T	C	2: 178,091,614 (GRCm39)	S58P	probably benign	Het
Cds2	A	G	2: 132,140,398 (GRCm39)	T182A	probably damaging	Het
Cfap157	C	T	2: 32,669,965 (GRCm39)	R206H	probably benign	Het
Col7a1	G	A	9: 108,795,532 (GRCm39)	G1529E	unknown	Het
Crybg3	A	G	16: 59,350,782 (GRCm39)	F2567L	probably benign	Het
Cyp2e1	T	C	7: 140,354,527 (GRCm39)	S393P	possibly damaging	Het
D5Ertd579e	A	G	5: 36,773,160 (GRCm39)	Y412H	probably damaging	Het
Dclk2	A	T	3: 86,732,049 (GRCm39)		probably null	Het
Ddx50	A	T	10: 62,463,450 (GRCm39)	C414*	probably null	Het
Dip2c	T	A	13: 9,671,905 (GRCm39)		probably null	Het
Dmtn	G	T	14: 70,843,159 (GRCm39)	P283Q	probably damaging	Het
Efcab11	T	C	12: 99,685,321 (GRCm39)	D151G	probably damaging	Het
Egfem1	T	C	3: 29,206,042 (GRCm39)	V93A	probably damaging	Het
Ehbp1	T	C	11: 22,096,592 (GRCm39)	D299G	probably benign	Het
Erlec1	A	G	11: 30,884,710 (GRCm39)	Y448H	possibly damaging	Het
Fer1l4	T	C	2: 155,873,220 (GRCm39)	K1287E	probably benign	Het
Fn1	A	T	1: 71,634,968 (GRCm39)		probably null	Het
Fut8	G	T	12: 77,521,818 (GRCm39)	A486S	probably damaging	Het
Gfra1	A	T	19: 58,255,522 (GRCm39)	S308R	probably damaging	Het
Gm10764	A	G	10: 87,126,579 (GRCm39)		noncoding transcript	Het
Gm5958	C	A	14: 100,073,189 (GRCm39)		noncoding transcript	Het
Gm6788	C	T	19: 28,740,664 (GRCm39)		noncoding transcript	Het
Gsdmd	A	G	15: 75,736,241 (GRCm39)	I123M	probably benign	Het
H2bc13	A	T	13: 21,900,189 (GRCm39)	V42E	probably damaging	Het
Hsf4	A	G	8: 105,999,367 (GRCm39)	E235G	probably benign	Het
Ighv1-83	T	C	12: 115,927,580 (GRCm39)	I57V	probably benign	Het
Inhca	A	C	9: 103,129,054 (GRCm39)	Y235*	probably null	Het
Inpp5f	A	T	7: 128,286,840 (GRCm39)	D573V	probably damaging	Het
Kcnj1	T	A	9: 32,308,056 (GRCm39)	L160Q	probably damaging	Het
Kcnmb3	A	T	3: 32,526,653 (GRCm39)	C179*	probably null	Het
Lrig1	A	G	6: 94,586,700 (GRCm39)	F659L	probably damaging	Het
Lrrc3	T	C	10: 77,737,253 (GRCm39)	D61G	probably benign	Het
Marchf4	T	G	1: 72,467,938 (GRCm39)	S365R	probably benign	Het
Mccc1	A	G	3: 36,051,703 (GRCm39)	L32S	probably benign	Het
Mei4	A	G	9: 81,772,216 (GRCm39)	T10A	probably benign	Het
Meis1	T	C	11: 18,959,222 (GRCm39)		probably benign	Het
Mllt1	T	C	17: 57,206,813 (GRCm39)	T344A	probably benign	Het
Mmp11	C	T	10: 75,761,419 (GRCm39)	A31T	probably damaging	Het
Mrps28	A	G	3: 8,947,614 (GRCm39)		probably benign	Het
Mthfsl	A	C	9: 88,597,550 (GRCm39)	L67V	probably damaging	Het
Ncaph2	A	G	15: 89,244,574 (GRCm39)	I11V	probably damaging	Het
Ncdn	G	A	4: 126,643,731 (GRCm39)	L364F	possibly damaging	Het
Nfat5	T	A	8: 108,051,284 (GRCm39)	D47E	probably damaging	Het
Or51g2	A	T	7: 102,622,614 (GRCm39)	I195N	possibly damaging	Het
Or5b106	T	A	19: 13,123,355 (GRCm39)	I223L	possibly damaging	Het
Or5bw2	C	T	7: 6,573,643 (GRCm39)	L218F	possibly damaging	Het
Pcdhb3	A	T	18: 37,435,452 (GRCm39)	I473F	probably damaging	Het
Pcdhgb8	A	T	18: 37,897,191 (GRCm39)	N754Y	probably damaging	Het
Pgbd5	C	A	8: 125,097,305 (GRCm39)	K408N	probably benign	Het
Pnisr	A	G	4: 21,859,330 (GRCm39)		probably benign	Het
Poldip3	A	T	15: 83,016,776 (GRCm39)		probably null	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Psmc3	A	G	2: 90,896,317 (GRCm39)		probably benign	Het
Rab3gap1	T	A	1: 127,816,914 (GRCm39)	W58R	possibly damaging	Het
Rere	T	A	4: 150,703,601 (GRCm39)	W1528R	probably damaging	Het
Rhot1	A	G	11: 80,100,027 (GRCm39)		probably benign	Het
Rsf1	T	C	7: 97,311,612 (GRCm39)	S781P	probably damaging	Het
Rtraf	T	C	14: 19,873,784 (GRCm39)	K5R	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryr2	A	G	13: 11,609,872 (GRCm39)	V753A	probably damaging	Het
Ryr3	T	C	2: 112,661,530 (GRCm39)	H1820R	probably damaging	Het
Schip1	A	T	3: 68,315,818 (GRCm39)		probably benign	Het
Scin	T	A	12: 40,119,373 (GRCm39)	I552F	possibly damaging	Het
Selp	A	C	1: 163,972,475 (GRCm39)	T705P	probably damaging	Het
Sh3rf3	A	T	10: 58,842,925 (GRCm39)	D297V	probably damaging	Het
Slc24a4	T	A	12: 102,231,203 (GRCm39)		probably null	Het
Slc2a9	C	A	5: 38,574,603 (GRCm39)	L224F	probably benign	Het
Slc35e2	C	A	4: 155,700,693 (GRCm39)	P272Q	probably damaging	Het
Slf2	T	G	19: 44,960,100 (GRCm39)	D1022E	probably damaging	Het
Syne1	C	T	10: 5,007,909 (GRCm39)	C7932Y	probably damaging	Het
Tc2n	A	G	12: 101,631,954 (GRCm39)	L301P	probably damaging	Het
Tchhl1	A	G	3: 93,377,623 (GRCm39)	D109G	possibly damaging	Het
Thoc7	T	C	14: 13,953,154 (GRCm38)	I83V	probably damaging	Het
Tm4sf1	C	T	3: 57,200,448 (GRCm39)	G85S	probably damaging	Het
Tmem63a	T	A	1: 180,794,086 (GRCm39)	I541N	probably benign	Het
Tmpo	A	G	10: 90,985,411 (GRCm39)	V357A	probably damaging	Het
Unc80	T	C	1: 66,685,709 (GRCm39)	Y2278H	possibly damaging	Het
Vmn1r26	A	G	6: 57,985,808 (GRCm39)	F127S	probably damaging	Het
Vmn2r8	A	T	5: 108,945,264 (GRCm39)	M781K	probably damaging	Het
Vps36	T	G	8: 22,708,280 (GRCm39)	M348R	possibly damaging	Het
Vps45	T	C	3: 95,926,943 (GRCm39)	T535A	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
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
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'- ACAGCAGCAGTAGTAGTGACAG -3'
(R):5'- CACTGCTGTCACTACTGTCGC -3'

Sequencing Primer
(F):5'- TAGTGACAGCAGCGACAGC -3'
(R):5'- ACTACTGTCGCTGCTGTCG -3'

Posted On

2016-04-15