Mutagenetix > Incidental Mutations

Incidental Mutation 'R5883:Ambn'

454515

Institutional Source

Beutler Lab

Gene Symbol

Ambn

Ensembl Gene

ENSMUSG00000029288

Gene Name

ameloblastin

Synonyms

MMRRC Submission

044086-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5883 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88455991-88468531 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 88467829 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 372 (Y372*)

Ref Sequence

ENSEMBL: ENSMUSP00000142944 (fasta)

Gene Model

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

AlphaFold

O55189

Predicted Effect

probably null
Transcript: ENSMUST00000031226
AA Change: Y357*

SMART Domains

Protein: ENSMUSP00000031226
Gene: ENSMUSG00000029288
AA Change: Y357*

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

Predicted Effect

probably null
Transcript: ENSMUST00000198265
AA Change: Y372*

SMART Domains

Protein: ENSMUSP00000142944
Gene: ENSMUSG00000029288
AA Change: Y372*

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

Meta Mutation Damage Score

0.9703

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 95.9%
20x: 83.7%

Validation Efficiency

100% (70/70)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	A	8: 120,145,641	V103I	probably damaging	Het
Aass	G	A	6: 23,072,994	T920I	probably benign	Het
Akirin2	A	G	4: 34,565,256	I168V	possibly damaging	Het
Ano3	T	A	2: 110,880,864	E85V	probably null	Het
Bmf	C	T	2: 118,546,966		silent	Het
Bmper	T	A	9: 23,406,674	S530T	probably benign	Het
Bop1	T	C	15: 76,454,849	D383G	probably damaging	Het
Bub1b	T	A	2: 118,609,882	Y156N	probably damaging	Het
Cacna1h	A	G	17: 25,376,922	V1987A	probably benign	Het
Cd84	T	C	1: 171,872,838	V174A	possibly damaging	Het
Cep290	T	A	10: 100,523,399	L997Q	probably benign	Het
Chil4	C	T	3: 106,210,570	R128H	possibly damaging	Het
Cpne3	A	T	4: 19,552,314	V106D	possibly damaging	Het
D6Wsu163e	A	G	6: 126,966,916	E425G	probably damaging	Het
Dlgap1	A	T	17: 70,517,013		probably benign	Het
Dnhd1	C	A	7: 105,720,504	H4379N	probably damaging	Het
Gm10309	A	G	17: 86,498,757		probably benign	Het
Gm6264	G	A	1: 85,171,182		probably benign	Het
Has2	T	A	15: 56,668,063	I419F	possibly damaging	Het
Hscb	A	G	5: 110,839,578	C51R	probably benign	Het
Ighv1-61	T	C	12: 115,359,563	S4G	probably benign	Het
Islr2	G	T	9: 58,198,715	Q465K	probably benign	Het
Jakmip2	T	C	18: 43,581,994	I156V	possibly damaging	Het
Klk1b24	A	G	7: 44,190,363	I49V	probably benign	Het
Krt90	C	T	15: 101,553,219		probably benign	Het
Larp1	C	T	11: 58,042,299	S243F	probably damaging	Het
Lrp4	T	C	2: 91,488,433	Y872H	probably benign	Het
Maip1	T	C	1: 57,407,101	M110T	probably damaging	Het
March7	G	A	2: 60,234,442	R354Q	probably damaging	Het
Med12l	G	T	3: 59,091,468	E605D	probably damaging	Het
Nt5c1a	T	A	4: 123,216,256		probably null	Het
Olfr209	A	T	16: 59,361,715	C168S	probably damaging	Het
Olfr490	C	T	7: 108,286,244	S294N	probably damaging	Het
Olfr531	T	A	7: 140,400,188	Y286F	probably damaging	Het
Pdzd9	T	A	7: 120,668,553	E13V	possibly damaging	Het
Ppip5k2	C	T	1: 97,707,810	A1100T	possibly damaging	Het
Prkdc	C	A	16: 15,715,914	Q1539K	probably benign	Het
Rad54l	C	G	4: 116,099,046		probably benign	Het
Ric1	T	A	19: 29,595,989	I943N	probably damaging	Het
Rif1	T	A	2: 52,105,639		probably null	Het
Rpl12	T	C	2: 32,962,524		probably benign	Het
Ryr3	T	C	2: 113,030,292		probably benign	Het
Scarb1	C	A	5: 125,340,907		probably benign	Het
Sox10	T	C	15: 79,156,263	E359G	probably damaging	Het
Taf5	A	G	19: 47,067,789	T9A	unknown	Het
Tmem128	C	T	5: 38,266,541	A33V	possibly damaging	Het
Tox	A	C	4: 6,697,444	V453G	probably benign	Het
Ubxn4	T	A	1: 128,256,130	C76S	probably damaging	Het
Vmn2r100	A	T	17: 19,523,524	Y483F	probably benign	Het
Xkr5	A	G	8: 18,940,790	S154P	probably damaging	Het
Zfp687	T	C	3: 95,012,044	N139S	probably benign	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
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
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'- AGAAGGTCCAGAAGGCTCTC -3'
(R):5'- CACAAAGTAGCTGCTATGTCAAG -3'

Sequencing Primer
(F):5'- GAAGGCTCTCCACTGCAAGAG -3'
(R):5'- CAAGGTTATCAGGGCTCTTGGAAAC -3'

Posted On

2017-02-10