Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

IGL01139

Quality Score

Status

Chromosome

Chromosomal Location

88603850-88616390 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 88612376 bp (GRCm39)

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
Aadacl4fm5	A	T	4: 144,504,259 (GRCm39)	Y297*	probably null	Het
Actr3	A	T	1: 125,333,622 (GRCm39)	I215N	probably damaging	Het
Arhgef1	T	A	7: 24,625,376 (GRCm39)		probably benign	Het
Arid1a	A	C	4: 133,421,308 (GRCm39)	S832R	unknown	Het
Clca4a	A	T	3: 144,672,030 (GRCm39)	I304N	probably damaging	Het
Dmxl2	G	A	9: 54,366,248 (GRCm39)	P274S	probably damaging	Het
Eif4enif1	T	A	11: 3,171,143 (GRCm39)	D211E	probably damaging	Het
Eri2	A	G	7: 119,385,960 (GRCm39)		probably null	Het
Fhod3	C	T	18: 25,199,401 (GRCm39)	P691S	probably benign	Het
Flnb	A	G	14: 7,945,989 (GRCm38)	S2465G	probably damaging	Het
Ftsj1	G	A	X: 8,112,831 (GRCm39)	R171C	probably damaging	Het
Glb1l3	G	A	9: 26,729,523 (GRCm39)	T648I	probably benign	Het
Gm4222	T	A	2: 89,978,889 (GRCm39)		probably benign	Het
Gm5475	G	A	15: 100,322,096 (GRCm39)		probably benign	Het
Jaml	C	A	9: 45,012,317 (GRCm39)	T268N	possibly damaging	Het
Kank3	G	A	17: 34,036,375 (GRCm39)	G81E	probably damaging	Het
Lrba	A	G	3: 86,549,969 (GRCm39)	T217A	possibly damaging	Het
Ltn1	A	G	16: 87,212,897 (GRCm39)	S555P	probably benign	Het
Map3k15	T	A	X: 158,855,875 (GRCm39)	M350K	probably damaging	Het
Mipol1	C	A	12: 57,352,821 (GRCm39)	Y53*	probably null	Het
Mn1	A	G	5: 111,569,315 (GRCm39)	D1095G	probably damaging	Het
Myh14	T	C	7: 44,255,716 (GRCm39)		probably benign	Het
Nrn1	A	G	13: 36,914,190 (GRCm39)	C31R	probably damaging	Het
Nup210	A	T	6: 91,007,079 (GRCm39)	L579H	possibly damaging	Het
Nxf2	T	C	X: 133,851,145 (GRCm39)	I578V	probably benign	Het
Obscn	G	A	11: 58,969,178 (GRCm39)	A172V	probably damaging	Het
Or10h1b	T	A	17: 33,395,756 (GRCm39)	Y123N	probably damaging	Het
Or9g4	T	G	2: 85,504,841 (GRCm39)	Y218S	probably damaging	Het
Phtf1	A	G	3: 103,912,918 (GRCm39)	D748G	probably damaging	Het
Psd3	A	T	8: 68,361,187 (GRCm39)	Y863N	probably damaging	Het
Psmc6	C	T	14: 45,581,167 (GRCm39)	T321I	probably benign	Het
Rassf6	T	C	5: 90,756,825 (GRCm39)	*31W	probably null	Het
Rictor	A	C	15: 6,807,749 (GRCm39)	K791Q	probably damaging	Het
Slc12a9	C	T	5: 137,321,104 (GRCm39)	M470I	probably damaging	Het
Tex28	A	T	X: 73,194,830 (GRCm39)	M367K	possibly damaging	Het
Thnsl2	A	T	6: 71,115,718 (GRCm39)	V163D	probably damaging	Het
Tmco3	G	A	8: 13,369,887 (GRCm39)	R633Q	possibly damaging	Het
Trf	A	T	9: 103,100,803 (GRCm39)	V224D	probably damaging	Het
Ttc8	C	T	12: 98,930,804 (GRCm39)	Q273*	probably null	Het
Usp9x	A	G	X: 12,970,815 (GRCm39)		probably benign	Het
Vmn2r117	A	G	17: 23,696,778 (GRCm39)	W210R	probably damaging	Het
Vmn2r5	A	G	3: 64,398,826 (GRCm39)	S718P	probably benign	Het
Vps13a	T	C	19: 16,617,989 (GRCm39)	D2932G	probably damaging	Het
Whamm	T	C	7: 81,245,662 (GRCm39)	L706P	probably damaging	Het
Yeats2	G	A	16: 20,033,143 (GRCm39)	V45I	probably damaging	Het
Yipf3	G	A	17: 46,561,383 (GRCm39)		probably null	Het
Zeb1	T	C	18: 5,705,061 (GRCm39)	V26A	possibly damaging	Het

Other mutations in Ambn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Ambn	APN	5	88,607,218 (GRCm39)	missense	probably damaging	0.99
IGL01318:Ambn	APN	5	88,608,554 (GRCm39)	splice site	probably benign
IGL02139:Ambn	APN	5	88,613,149 (GRCm39)	missense	probably benign
IGL02261:Ambn	APN	5	88,604,807 (GRCm39)	missense	probably damaging	1.00
IGL02743:Ambn	APN	5	88,612,343 (GRCm39)	missense	probably damaging	0.99
IGL03329:Ambn	APN	5	88,609,527 (GRCm39)	missense	probably benign	0.34
R0242:Ambn	UTSW	5	88,615,831 (GRCm39)	missense	possibly damaging	0.85
R0242:Ambn	UTSW	5	88,615,831 (GRCm39)	missense	possibly damaging	0.85
R0563:Ambn	UTSW	5	88,611,309 (GRCm39)	missense	probably benign	0.28
R1649:Ambn	UTSW	5	88,612,340 (GRCm39)	missense	probably benign	0.16
R2118:Ambn	UTSW	5	88,608,617 (GRCm39)	splice site	probably benign
R2121:Ambn	UTSW	5	88,608,617 (GRCm39)	splice site	probably benign
R2124:Ambn	UTSW	5	88,608,617 (GRCm39)	splice site	probably benign
R2495:Ambn	UTSW	5	88,615,663 (GRCm39)	missense	probably benign	0.05
R2877:Ambn	UTSW	5	88,608,559 (GRCm39)	splice site	probably benign
R3779:Ambn	UTSW	5	88,613,201 (GRCm39)	splice site	probably benign
R4760:Ambn	UTSW	5	88,615,566 (GRCm39)	missense	probably damaging	1.00
R5422:Ambn	UTSW	5	88,612,370 (GRCm39)	critical splice donor site	probably null
R5755:Ambn	UTSW	5	88,612,350 (GRCm39)	splice site	probably null
R5883:Ambn	UTSW	5	88,615,688 (GRCm39)	nonsense	probably null
R5970:Ambn	UTSW	5	88,615,810 (GRCm39)	missense	possibly damaging	0.88
R6846:Ambn	UTSW	5	88,609,574 (GRCm39)	missense	possibly damaging	0.65
R7166:Ambn	UTSW	5	88,615,387 (GRCm39)	missense	possibly damaging	0.94
R7500:Ambn	UTSW	5	88,609,493 (GRCm39)	missense	possibly damaging	0.95
R7809:Ambn	UTSW	5	88,615,683 (GRCm39)	missense	probably benign	0.00
R8306:Ambn	UTSW	5	88,607,281 (GRCm39)	missense	possibly damaging	0.95
R8898:Ambn	UTSW	5	88,613,051 (GRCm39)	critical splice donor site	probably null
R9481:Ambn	UTSW	5	88,613,050 (GRCm39)	critical splice donor site	probably null

Posted On

2013-06-21