Mutagenetix > Incidental Mutation

Incidental Mutation 'I2289:Amelx'

589

Institutional Source

Beutler Lab

Gene Symbol

Amelx

Ensembl Gene

ENSMUSG00000031354

Gene Name

amelogenin, X-linked

Synonyms

Amel, Rgsc888, M100888, Amg

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

I2289 (G3) of strain 633

Quality Score

Status

Validated

Chromosome

Chromosomal Location

167959110-167970196 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 167961009 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000065966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033721] [ENSMUST00000066112] [ENSMUST00000087016] [ENSMUST00000112118] [ENSMUST00000112119] [ENSMUST00000112120] [ENSMUST00000112127] [ENSMUST00000112129] [ENSMUST00000112131] [ENSMUST00000139146]

AlphaFold

P63277

Predicted Effect

probably benign
Transcript: ENSMUST00000033721

SMART Domains

Protein: ENSMUSP00000033721
Gene: ENSMUSG00000031355

Domain	Start	End	E-Value	Type
low complexity region	44	55	N/A	INTRINSIC
low complexity region	138	164	N/A	INTRINSIC
low complexity region	250	268	N/A	INTRINSIC
low complexity region	328	361	N/A	INTRINSIC
RhoGAP	410	601	2.25e-65	SMART
low complexity region	712	726	N/A	INTRINSIC
low complexity region	765	776	N/A	INTRINSIC
low complexity region	880	895	N/A	INTRINSIC
low complexity region	937	948	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000066112

SMART Domains

Protein: ENSMUSP00000065966
Gene: ENSMUSG00000031354

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Amelogenin	17	196	6.19e-117	SMART
internal_repeat_1	198	210	2e-6	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000087016

SMART Domains

Protein: ENSMUSP00000084239
Gene: ENSMUSG00000031355

Domain	Start	End	E-Value	Type
low complexity region	68	86	N/A	INTRINSIC
low complexity region	146	179	N/A	INTRINSIC
Pfam:RhoGAP	231	287	9e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112118

SMART Domains

Protein: ENSMUSP00000107746
Gene: ENSMUSG00000031354

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Amelogenin	17	196	4.83e-119	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112119

SMART Domains

Protein: ENSMUSP00000107747
Gene: ENSMUSG00000031354

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Amelogenin	17	210	5.18e-119	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112120

SMART Domains

Protein: ENSMUSP00000107748
Gene: ENSMUSG00000031354

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Amelogenin	17	172	4.44e-86	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112127

SMART Domains

Protein: ENSMUSP00000107755
Gene: ENSMUSG00000031355

Domain	Start	End	E-Value	Type
low complexity region	58	76	N/A	INTRINSIC
low complexity region	136	169	N/A	INTRINSIC
RhoGAP	218	409	2.25e-65	SMART
low complexity region	520	534	N/A	INTRINSIC
low complexity region	573	584	N/A	INTRINSIC
low complexity region	688	703	N/A	INTRINSIC
low complexity region	745	756	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143048

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154923

Predicted Effect

probably benign
Transcript: ENSMUST00000112129

SMART Domains

Protein: ENSMUSP00000107757
Gene: ENSMUSG00000031355

Domain	Start	End	E-Value	Type
low complexity region	68	86	N/A	INTRINSIC
low complexity region	146	179	N/A	INTRINSIC
RhoGAP	228	374	5.21e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112131

SMART Domains

Protein: ENSMUSP00000107759
Gene: ENSMUSG00000031355

Domain	Start	End	E-Value	Type
low complexity region	68	86	N/A	INTRINSIC
low complexity region	146	179	N/A	INTRINSIC
RhoGAP	228	419	2.25e-65	SMART
low complexity region	530	544	N/A	INTRINSIC
low complexity region	583	594	N/A	INTRINSIC
low complexity region	698	713	N/A	INTRINSIC
low complexity region	755	766	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139146

SMART Domains

Protein: ENSMUSP00000134512
Gene: ENSMUSG00000031355

Domain	Start	End	E-Value	Type
low complexity region	68	86	N/A	INTRINSIC
low complexity region	146	179	N/A	INTRINSIC
RhoGAP	228	419	2.25e-65	SMART

Meta Mutation Damage Score

0.9626

Coding Region Coverage

1x: 87.8%
3x: 75.8%

Het Detection Efficiency

55.8%

Validation Efficiency

88% (46/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linked amelogenesis imperfecta. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in brittle teeth and reduced enamel thickness. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted, knock-out(1) Targeted, other(2) Chemically induced(1)

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	T	A	15: 11,071,894 (GRCm39)	L146Q	probably benign	Homo
Adgrv1	A	G	13: 81,585,643 (GRCm39)	L4607P	probably damaging	Het
Ankfy1	A	G	11: 72,621,311 (GRCm39)	K199R	probably benign	Het
Arfgef1	T	C	1: 10,243,478 (GRCm39)	K1024E	probably damaging	Het
Bank1	T	A	3: 135,760,179 (GRCm39)	D782V	probably damaging	Homo
Csmd1	A	T	8: 15,962,381 (GRCm39)	I3271K	probably benign	Homo
Fat1	A	G	8: 45,478,033 (GRCm39)	I2360V	probably benign	Homo
Gldc	G	A	19: 30,124,576 (GRCm39)	R241*	probably null	Het
Golgb1	A	G	16: 36,718,904 (GRCm39)	H270R	probably benign	Het
Heg1	T	C	16: 33,583,829 (GRCm39)	I1212T	probably damaging	Het
Hes1	T	A	16: 29,884,699 (GRCm39)	S53R	probably damaging	Het
Ibsp	G	A	5: 104,450,353 (GRCm39)	R57Q	possibly damaging	Homo
Lrp1b	A	T	2: 41,012,944 (GRCm39)	I2001K	probably damaging	Het
Nf1	G	A	11: 79,438,602 (GRCm39)	R2181H	probably damaging	Het
Nrcam	C	A	12: 44,611,098 (GRCm39)	H567Q	probably benign	Homo
Or51a10	T	C	7: 103,698,961 (GRCm39)	Y200C	probably damaging	Homo
Or5bw2	A	T	7: 6,573,818 (GRCm39)	Y276F	probably damaging	Het
Rraga	T	C	4: 86,494,522 (GRCm39)	F123L	probably damaging	Het
Spam1	A	G	6: 24,796,477 (GRCm39)	I143V	probably benign	Het
Synj2	A	G	17: 6,072,542 (GRCm39)		probably benign	Homo
T	A	T	17: 8,657,474 (GRCm39)	T112S	probably benign	Homo

Other mutations in Amelx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1957:Amelx	UTSW	X	167,965,153 (GRCm39)	splice site	probably null
R3196:Amelx	UTSW	X	167,964,826 (GRCm39)	intron	probably benign

Nature of Mutation

DNA sequencing using the SOLiD technique identified a T to C transition at base pair 165615945 in the Genbank genomic region NC_000086 for the Amelx gene on chromosome X (GTATGTAGC ->GCATGTAGC). Multiple transcripts of the Amelx gene are displayed on Ensembl and Vega. The mutation is located within intron 5 from the ATG exon, two nucleotides from the previous exon. The Amelx gene contains 8 total exons using Genbank record NM_001081978.2. The mutation has been confirmed by DNA sequencing using the Sanger method.

Protein Function and Prediction

The Amelx gene encodes multiple isoforms of amelogenin, a secreted extracellular matrix factor involved in biomineralization of teeth (Uniprot P63277). Isoform 1 is 219 amino acids long according to Genbank record NM_001081978. Homozygous mutation of this gene in mice results in brittle teeth and reduced enamel thickness. In human males, mutations in AMELX cause hypoplastic amelogenesis imperfecta (OMIM #301200), a defect of dental enamel formation.

Posted On

2011-03-08