Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02424:Amtn'

292850

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Amtn

Ensembl Gene

ENSMUSG00000029282

Gene Name

amelotin

Synonyms

5430427O21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

IGL02424

Quality Score

Status

Chromosome

Chromosomal Location

88523967-88533775 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 88529456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000073081 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073363]

AlphaFold

Q9D3J8

Predicted Effect

probably benign
Transcript: ENSMUST00000073363

SMART Domains

Protein: ENSMUSP00000073081
Gene: ENSMUSG00000029282

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Amelotin	17	211	2e-96	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enamel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed 16304441]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enamel hypomineralization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	G	3: 137,880,466 (GRCm39)		probably benign	Het
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Abl1	G	A	2: 31,691,144 (GRCm39)	V888I	probably benign	Het
Adcy9	G	T	16: 4,106,461 (GRCm39)	N884K	probably damaging	Het
Alyref	T	C	11: 120,486,133 (GRCm39)	N176D	probably benign	Het
Baz1b	T	C	5: 135,246,833 (GRCm39)	Y761H	probably damaging	Het
Cckar	T	A	5: 53,863,770 (GRCm39)	T64S	possibly damaging	Het
Csmd1	A	G	8: 16,142,340 (GRCm39)	F1521S	probably benign	Het
Cyp11b1	T	C	15: 74,711,085 (GRCm39)	T198A	probably benign	Het
Def8	G	T	8: 124,186,387 (GRCm39)	L399F	possibly damaging	Het
Epha7	A	T	4: 28,948,790 (GRCm39)		probably benign	Het
Ets1	T	A	9: 32,665,589 (GRCm39)	Y181*	probably null	Het
Fas	A	T	19: 34,304,434 (GRCm39)	M232L	probably damaging	Het
Fkbp10	T	A	11: 100,306,782 (GRCm39)	V37E	probably damaging	Het
Galnt3	A	G	2: 65,926,132 (GRCm39)		probably null	Het
Gdap1	T	C	1: 17,231,402 (GRCm39)	V249A	probably damaging	Het
Gm5356	T	A	8: 89,913,594 (GRCm39)		noncoding transcript	Het
Gm7732	A	G	17: 21,349,709 (GRCm39)		noncoding transcript	Het
Gpr3	G	T	4: 132,938,405 (GRCm39)	A89E	probably damaging	Het
Kat2a	A	G	11: 100,601,973 (GRCm39)		probably null	Het
Kit	T	G	5: 75,799,766 (GRCm39)	D499E	probably benign	Het
Kmt2a	C	T	9: 44,735,932 (GRCm39)		probably benign	Het
Med12l	T	C	3: 59,000,143 (GRCm39)	L666P	probably benign	Het
Mmp2	T	G	8: 93,562,635 (GRCm39)	C291G	probably damaging	Het
Neb	A	G	2: 52,154,203 (GRCm39)	Y2303H	probably damaging	Het
Or14a259	C	A	7: 86,012,688 (GRCm39)	V286L	probably benign	Het
Or1d2	T	A	11: 74,256,299 (GRCm39)	M268K	probably benign	Het
Or1o2	T	C	17: 37,543,263 (GRCm39)		probably benign	Het
Pde1b	T	A	15: 103,436,646 (GRCm39)		probably benign	Het
Prl7a2	A	C	13: 27,851,953 (GRCm39)	C9G	probably null	Het
Rabl6	A	G	2: 25,477,469 (GRCm39)	V327A	probably benign	Het
Robo2	T	A	16: 73,770,189 (GRCm39)	I516F	possibly damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Slc35a3	G	A	3: 116,488,267 (GRCm39)	T140I	possibly damaging	Het
Slc38a7	A	G	8: 96,568,200 (GRCm39)	V395A	probably damaging	Het
Stag3	T	A	5: 138,280,247 (GRCm39)	C37*	probably null	Het
Stag3	T	C	5: 138,289,628 (GRCm39)	L266P	probably damaging	Het
Strn	A	G	17: 78,991,780 (GRCm39)	S180P	probably damaging	Het
Sulf1	A	G	1: 12,867,064 (GRCm39)	T83A	probably benign	Het
Vmn1r69	T	C	7: 10,314,585 (GRCm39)	I49V	probably benign	Het
Vrk2	G	A	11: 26,426,564 (GRCm39)	P387L	probably benign	Het
Xdh	A	T	17: 74,233,565 (GRCm39)	M183K	probably benign	Het

Other mutations in Amtn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:Amtn	APN	5	88,532,908 (GRCm39)	missense	possibly damaging	0.71
IGL02851:Amtn	APN	5	88,529,481 (GRCm39)	missense	probably benign	0.32
IGL03085:Amtn	APN	5	88,529,501 (GRCm39)	splice site	probably benign
IGL03106:Amtn	APN	5	88,525,944 (GRCm39)	missense	probably benign	0.32
IGL03153:Amtn	APN	5	88,532,828 (GRCm39)	missense	possibly damaging	0.71
R0762:Amtn	UTSW	5	88,532,859 (GRCm39)	missense	possibly damaging	0.93
R1537:Amtn	UTSW	5	88,526,729 (GRCm39)	missense	probably null	0.32
R5436:Amtn	UTSW	5	88,529,485 (GRCm39)	missense	probably damaging	0.98
R5696:Amtn	UTSW	5	88,532,944 (GRCm39)	nonsense	probably null
R6455:Amtn	UTSW	5	88,528,139 (GRCm39)	missense	probably damaging	0.98
R6830:Amtn	UTSW	5	88,525,956 (GRCm39)	missense	probably damaging	0.98
R7528:Amtn	UTSW	5	88,526,711 (GRCm39)	splice site	probably null
R9621:Amtn	UTSW	5	88,528,205 (GRCm39)	missense	probably benign	0.32
X0065:Amtn	UTSW	5	88,525,956 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16