Mutagenetix > Incidental Mutation

Incidental Mutation 'RF044:Dspp'

604956

Institutional Source

Beutler Lab

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 #

RF044 (G1)

Quality Score

110.472

Status

Not validated

Chromosome

Chromosomal Location

104318578-104327993 bp(+) (GRCm39)

Type of Mutation

small insertion (6 aa in frame mutation)

DNA Base Change (assembly)

TGACAGCAGCGACAGCAG to TGACAGCAGCGACAGCAGAGACAGCAGCGACAGCAG at 104326290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108391 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000112771

SMART Domains

Protein: ENSMUSP00000108391
Gene: ENSMUSG00000053268

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

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.4%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	TG	TGTGGCTGCCG	1: 82,891,310 (GRCm39)		probably benign	Het
Blm	CTCC	CTCCTCCTCCTCATCC	7: 80,162,678 (GRCm39)		probably benign	Het
Cacna1f	GAG	GAGTAG	X: 7,486,296 (GRCm39)		probably null	Het
Ccdc85c	GCC	GCCACC	12: 108,240,871 (GRCm39)		probably benign	Het
Chga	AGC	AGCGGC	12: 102,527,655 (GRCm39)		probably benign	Het
Crtam	TTCTTGATCTGAA	T	9: 40,895,650 (GRCm39)		probably null	Het
Efhd2	CCGCCG	CCGCCGACGCCG	4: 141,602,079 (GRCm39)		probably benign	Het
F830016B08Rik	AAAAAA	AAAAAAAAA	18: 60,433,010 (GRCm39)		probably benign	Het
Gab3	TCT	TCTCCT	X: 74,043,611 (GRCm39)		probably benign	Het
Gabre	CTC	CTCCGGATC	X: 71,313,667 (GRCm39)		probably benign	Het
Gykl1	G	A	18: 52,827,488 (GRCm39)	R232Q	probably benign	Het
Haus4	AGGGCAGGCCGCTGGCCACACACCTGGGAGGGGGGCAGGCCGCTGGCCACACACCTGGGAGGGGGGCAGGCCGCTGGCCACACACCTGGGAG	AGGGCAGGCCGCTGGCCACACACCTGGGAGGGGGGCAGGCCGCTGGCCACACACCTGGGAG	14: 54,781,577 (GRCm39)		probably null	Het
Igf1r	GATGGAGC	GATGGAGCTGGATATGGAGC	7: 67,875,927 (GRCm39)		probably benign	Het
Irag2	TG	TGAGCACATCG	6: 145,119,516 (GRCm39)		probably benign	Het
Krtap28-10	CCACAG	CCACAGACACAG	1: 83,019,852 (GRCm39)		probably benign	Het
Maml2	ACAGCAGCAGCAACAGCAGCAGCAGCAGCA	ACAGCAACAGCAGCAGCAGCAGCA	9: 13,532,752 (GRCm39)		probably benign	Het
Map1a	CAGCTCCAGCTCCAGCTCCAGCTCCA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCAAGCTCCAGCTCCAGCTCCAGCTCCA	2: 121,136,774 (GRCm39)		probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,295,542 (GRCm39)		probably null	Het
Morn4	GTGAG	GTGAGTCAAGCATTGAG	19: 42,064,553 (GRCm39)		probably null	Het
Nefh	CCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGG	CCTCACCTGGGGACTTGGACTCACCTGGGGACTTGGCCTCACCTGGGGACTTGG	11: 4,891,021 (GRCm39)		probably benign	Het
Nefh	CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA	CTTGGCCTCACCTGGGGAATTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA	11: 4,891,016 (GRCm39)		probably benign	Het
Nefh	TCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	TCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,023 (GRCm39)		probably benign	Het
Nolc1	CAGCAGC	CAGCAGCAGAAGCAGC	19: 46,069,810 (GRCm39)		probably benign	Het
Or10n7-ps1	AAAATA	AAAATAAATA	9: 39,598,043 (GRCm39)		probably null	Het
Phc1	TG	TGCTGCGG	6: 122,300,559 (GRCm39)		probably benign	Het
Pla2g4e	AGGG	A	2: 120,075,205 (GRCm39)		probably benign	Het
Prr36	TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC	TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC	8: 4,266,273 (GRCm39)		probably benign	Het
Ptdss1	G	T	13: 67,093,412 (GRCm39)	S84I	possibly damaging	Het
Ren1	ACCGC	AC	1: 133,278,519 (GRCm39)		probably benign	Het
Rinl	G	T	7: 28,496,988 (GRCm39)	G496V	probably damaging	Het
Ryr3	CTGA	C	2: 112,740,869 (GRCm39)		probably benign	Het
Sbp	A	AAAAAGATGATGACAC	17: 24,164,340 (GRCm39)		probably benign	Het
Slc39a4	GTC	GTCATCATGATCACCATGGTCACCATGATCACTGTGTTC	15: 76,499,070 (GRCm39)		probably benign	Het
Spaca1	TCTCGC	TCTCGCGCTCGC	4: 34,049,846 (GRCm39)		probably benign	Het
Spaca1	TCGC	TCGCTCGCGC	4: 34,049,854 (GRCm39)		probably benign	Het
Spmap2l	ATCCTCCCCAGTCCCGCAAGGCCAG	ATCCTCCCCAGTCCCGCAAGGCCAGCGCTCCTCCCCAGTCCCGCAAGGCCAG	5: 77,164,252 (GRCm39)		probably benign	Het
Strn	C	CCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTA	17: 78,984,717 (GRCm39)		probably null	Het
Tmem59	T	TGTTTGTTG	4: 107,047,729 (GRCm39)		probably benign	Het
Tob1	GCA	GCAACA	11: 94,105,287 (GRCm39)		probably benign	Het
Zfp683	TGTGG	TGTGGTGG	4: 133,786,185 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- GCAGCAACAGTAGTGACAGC -3'
(R):5'- GGATATCATGGGTTCTCTCTGATC -3'

Sequencing Primer
(F):5'- CAGCAGTGACAGTAGCGAC -3'
(R):5'- CTGATCTAATCATCACTGGTTGAGTG -3'

Posted On

2019-12-04