Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01139:Ambn'

51181

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ambn

Ensembl Gene

ENSMUSG00000029288

Gene Name

ameloblastin

Synonyms

Accession Numbers

Is this an essential gene?

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

Stock #

IGL01139

Quality Score

Status

Chromosome

Chromosomal Location

88455991-88468531 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 88464517 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

Coding Region Coverage

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	A	T	1: 125,405,885	I215N	probably damaging	Het
Arhgef1	T	A	7: 24,925,951		probably benign	Het
Arid1a	A	C	4: 133,693,997	S832R	unknown	Het
Clca4a	A	T	3: 144,966,269	I304N	probably damaging	Het
Dmxl2	G	A	9: 54,458,964	P274S	probably damaging	Het
Eif4enif1	T	A	11: 3,221,143	D211E	probably damaging	Het
Eri2	A	G	7: 119,786,737		probably null	Het
Fhod3	C	T	18: 25,066,344	P691S	probably benign	Het
Flnb	A	G	14: 7,945,989	S2465G	probably damaging	Het
Ftsj1	G	A	X: 8,246,592	R171C	probably damaging	Het
Glb1l3	G	A	9: 26,818,227	T648I	probably benign	Het
Gm4222	T	A	2: 90,148,545		probably benign	Het
Gm438	A	T	4: 144,777,689	Y297*	probably null	Het
Gm5475	G	A	15: 100,424,215		probably benign	Het
Jaml	C	A	9: 45,101,019	T268N	possibly damaging	Het
Kank3	G	A	17: 33,817,401	G81E	probably damaging	Het
Lrba	A	G	3: 86,642,662	T217A	possibly damaging	Het
Ltn1	A	G	16: 87,416,009	S555P	probably benign	Het
Map3k15	T	A	X: 160,072,879	M350K	probably damaging	Het
Mipol1	C	A	12: 57,306,035	Y53*	probably null	Het
Mn1	A	G	5: 111,421,449	D1095G	probably damaging	Het
Myh14	T	C	7: 44,606,292		probably benign	Het
Nrn1	A	G	13: 36,730,216	C31R	probably damaging	Het
Nup210	A	T	6: 91,030,097	L579H	possibly damaging	Het
Nxf2	T	C	X: 134,950,396	I578V	probably benign	Het
Obscn	G	A	11: 59,078,352	A172V	probably damaging	Het
Olfr1006	T	G	2: 85,674,497	Y218S	probably damaging	Het
Olfr55	T	A	17: 33,176,782	Y123N	probably damaging	Het
Phtf1	A	G	3: 104,005,602	D748G	probably damaging	Het
Psd3	A	T	8: 67,908,535	Y863N	probably damaging	Het
Psmc6	C	T	14: 45,343,710	T321I	probably benign	Het
Rassf6	T	C	5: 90,608,966	*31W	probably null	Het
Rictor	A	C	15: 6,778,268	K791Q	probably damaging	Het
Slc12a9	C	T	5: 137,322,842	M470I	probably damaging	Het
Tex28	A	T	X: 74,151,224	M367K	possibly damaging	Het
Thnsl2	A	T	6: 71,138,734	V163D	probably damaging	Het
Tmco3	G	A	8: 13,319,887	R633Q	possibly damaging	Het
Trf	A	T	9: 103,223,604	V224D	probably damaging	Het
Ttc8	C	T	12: 98,964,545	Q273*	probably null	Het
Usp9x	A	G	X: 13,104,576		probably benign	Het
Vmn2r117	A	G	17: 23,477,804	W210R	probably damaging	Het
Vmn2r5	A	G	3: 64,491,405	S718P	probably benign	Het
Vps13a	T	C	19: 16,640,625	D2932G	probably damaging	Het
Whamm	T	C	7: 81,595,914	L706P	probably damaging	Het
Yeats2	G	A	16: 20,214,393	V45I	probably damaging	Het
Yipf3	G	A	17: 46,250,457		probably null	Het
Zeb1	T	C	18: 5,705,061	V26A	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
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
R2121: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

Posted On

2013-06-21