Mutagenetix > Incidental Mutations

Incidental Mutation 'R2121:Ambn'

231443

Institutional Source

Beutler Lab

Gene Symbol

Ambn

Ensembl Gene

ENSMUSG00000029288

Gene Name

ameloblastin

Synonyms

MMRRC Submission

040125-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

R2121 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88455991-88468531 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 88460758 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142944 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031226] [ENSMUST00000198265]

AlphaFold

O55189

Predicted Effect

probably benign
Transcript: ENSMUST00000031226

SMART Domains

Protein: ENSMUSP00000031226
Gene: ENSMUSG00000029288

Domain	Start	End	E-Value	Type
Amelin	11	407	7.19e-250	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198265

SMART Domains

Protein: ENSMUSP00000142944
Gene: ENSMUSG00000029288

Domain	Start	End	E-Value	Type
Amelin	11	422	8.22e-268	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: This gene encodes an extracellular matrix glycoprotein that is involved in the formation of dental enamel. Mice lacking the encoded protein fail to undergo normal ameloblast differentiation and develop enamel. Mice overproducing the product of this gene develop thinner and more porous enamel, with disrupted rod patterns and abnormal crystallites. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygous null mice lack enamel and display abnormal ameloblast and tooth morphology and an increased incidence of dental epithelium derived tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	A	17: 84,671,147	E294D	probably benign	Het
Adnp2	A	G	18: 80,129,170	F675L	probably benign	Het
Akna	G	A	4: 63,376,900	T1024I	probably benign	Het
Aox3	T	C	1: 58,152,549		probably benign	Het
Arhgef10	A	G	8: 14,934,820	D200G	probably damaging	Het
Arhgef26	A	T	3: 62,340,283	N263Y	probably damaging	Het
Arpp21	A	G	9: 112,136,670	S375P	probably damaging	Het
Bscl2	G	T	19: 8,839,782	E25*	probably null	Het
Ccl12	T	A	11: 82,101,950	S17R	probably damaging	Het
Cdh1	A	G	8: 106,664,210	I653V	probably benign	Het
Ceacam9	T	A	7: 16,722,003	F12I	probably benign	Het
Cldn23	A	G	8: 35,826,235	V33A	probably benign	Het
Cog1	T	C	11: 113,649,598	L13P	probably damaging	Het
Col20a1	G	C	2: 180,996,456	A346P	probably damaging	Het
Col6a3	T	C	1: 90,810,365	D537G	probably damaging	Het
Ctnnd2	G	A	15: 30,669,514	R423H	probably damaging	Het
Cyp2a12	A	G	7: 27,036,646	*493W	probably null	Het
Dcdc2a	T	G	13: 25,119,285	S266R	possibly damaging	Het
Diaph1	A	T	18: 37,896,389	M330K	unknown	Het
Dnah5	C	T	15: 28,297,005		probably benign	Het
F13a1	T	A	13: 37,025,679	Y104F	probably benign	Het
Fam78b	G	A	1: 167,078,709	V146M	probably damaging	Het
Fancl	G	T	11: 26,459,841		probably benign	Het
Gm10477	A	G	X: 56,524,832	K31E	probably damaging	Het
Gm7173	T	C	X: 79,510,321	I267V	probably benign	Het
Gstm7	T	C	3: 107,926,914	M175V	probably benign	Het
Hcn4	T	C	9: 58,824,058	S183P	unknown	Het
Heatr1	T	C	13: 12,403,264	V359A	probably benign	Het
Ikbkb	T	C	8: 22,667,217		probably benign	Het
Ints6l	T	A	X: 56,504,868	S718T	probably benign	Het
Kctd5	T	C	17: 24,055,966	T212A	probably benign	Het
Kdm3b	T	C	18: 34,796,780		probably benign	Het
Ltbp1	T	A	17: 75,310,159	V1031E	possibly damaging	Het
Lyst	A	G	13: 13,660,971	Y1746C	probably damaging	Het
Mageb5	A	G	X: 91,780,095	I226T	probably damaging	Het
Mdc1	C	T	17: 35,847,943	A405V	probably benign	Het
Mlc1	A	G	15: 88,963,431	Y305H	probably benign	Het
Muc4	A	G	16: 32,760,238	Y2474C	unknown	Het
Mybphl	A	C	3: 108,375,176	N175T	probably damaging	Het
Ncbp3	T	C	11: 73,053,478	V102A	possibly damaging	Het
Neb	A	G	2: 52,264,064	F2345S	probably damaging	Het
Nlrp6	T	C	7: 140,926,444	V766A	probably benign	Het
Olfr1045	T	A	2: 86,197,996	Y252F	possibly damaging	Het
Olfr866	T	G	9: 20,027,501	I146L	probably benign	Het
Palb2	T	C	7: 122,127,781	T289A	possibly damaging	Het
Pde10a	A	T	17: 8,977,215	Q657L	probably damaging	Het
Ppp2r2a	A	T	14: 67,023,128	F234I	probably damaging	Het
Prl3c1	T	A	13: 27,199,342		probably null	Het
Psg20	T	A	7: 18,681,022	Y316F	probably benign	Het
Sap18	T	A	14: 57,798,554	S66T	probably damaging	Het
Serpina3m	A	G	12: 104,389,682	M203V	possibly damaging	Het
Slc6a21	A	T	7: 45,288,462	I726F	probably benign	Het
Soga1	T	C	2: 157,033,325	E835G	probably damaging	Het
Syt10	C	T	15: 89,790,776	D456N	probably damaging	Het
Tfdp2	T	C	9: 96,295,014	S75P	probably damaging	Het
Thegl	A	T	5: 77,060,758	I378L	probably benign	Het
Tll1	T	C	8: 64,085,557	E351G	probably benign	Het
Tmed11	G	A	5: 108,795,332		probably benign	Het
Tmem81	C	A	1: 132,508,109	Q218K	probably benign	Het
Tnfsf11	G	A	14: 78,299,893	T110I	probably benign	Het
Ttc25	T	A	11: 100,567,011		probably null	Het
Tub	G	A	7: 109,026,737	G232S	probably damaging	Het
Vmn2r121	A	T	X: 124,133,742		probably null	Het
Vwa5b1	T	C	4: 138,588,569	T621A	probably benign	Het
Ythdf3	T	C	3: 16,205,192	F501S	possibly damaging	Het

Other mutations in Ambn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Ambn	APN	5	88459359	missense	probably damaging	0.99
IGL01139:Ambn	APN	5	88464517	splice site	probably benign
IGL01318:Ambn	APN	5	88460695	splice site	probably benign
IGL02139:Ambn	APN	5	88465290	missense	probably benign
IGL02261:Ambn	APN	5	88456948	missense	probably damaging	1.00
IGL02743:Ambn	APN	5	88464484	missense	probably damaging	0.99
IGL03329:Ambn	APN	5	88461668	missense	probably benign	0.34
R0242:Ambn	UTSW	5	88467972	missense	possibly damaging	0.85
R0242:Ambn	UTSW	5	88467972	missense	possibly damaging	0.85
R0563:Ambn	UTSW	5	88463450	missense	probably benign	0.28
R1649:Ambn	UTSW	5	88464481	missense	probably benign	0.16
R2118:Ambn	UTSW	5	88460758	splice site	probably benign
R2124:Ambn	UTSW	5	88460758	splice site	probably benign
R2495:Ambn	UTSW	5	88467804	missense	probably benign	0.05
R2877:Ambn	UTSW	5	88460700	splice site	probably benign
R3779:Ambn	UTSW	5	88465342	splice site	probably benign
R4760:Ambn	UTSW	5	88467707	missense	probably damaging	1.00
R5422:Ambn	UTSW	5	88464511	critical splice donor site	probably null
R5755:Ambn	UTSW	5	88464491	splice site	probably null
R5883:Ambn	UTSW	5	88467829	nonsense	probably null
R5970:Ambn	UTSW	5	88467951	missense	possibly damaging	0.88
R6846:Ambn	UTSW	5	88461715	missense	possibly damaging	0.65
R7166:Ambn	UTSW	5	88467528	missense	possibly damaging	0.94
R7500:Ambn	UTSW	5	88461634	missense	possibly damaging	0.95
R7809:Ambn	UTSW	5	88467824	missense	probably benign	0.00
R8306:Ambn	UTSW	5	88459422	missense	possibly damaging	0.95
R8898:Ambn	UTSW	5	88465192	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TTCAGACTGAACATGGCAAAGC -3'
(R):5'- TGCATTCTCTGTGCATCAGC -3'

Sequencing Primer
(F):5'- CTGAACATGGCAAAGCTACATTTTAC -3'
(R):5'- ATTAACTGTGTAGCCCAGGC -3'

Posted On

2014-09-18