Mutagenetix > Incidental Mutations

Incidental Mutation 'R0563:Ambn'

46003

Institutional Source

Beutler Lab

Gene Symbol

Ambn

Ensembl Gene

ENSMUSG00000029288

Gene Name

ameloblastin

Synonyms

MMRRC Submission

038754-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R0563 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88455991-88468531 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 88463450 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 163 (N163T)

Ref Sequence

ENSEMBL: ENSMUSP00000031226 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000031226
AA Change: N163T

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000031226
Gene: ENSMUSG00000029288
AA Change: N163T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000198265
AA Change: N178T

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000142944
Gene: ENSMUSG00000029288
AA Change: N178T

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

98% (52/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406M09Rik	A	G	1: 134,390,039	K183R	probably benign	Het
Adgrb3	G	T	1: 25,547,554	P146T	probably damaging	Het
Ankrd36	A	T	11: 5,629,322	E870D	probably benign	Het
Cdc123	T	C	2: 5,798,401	N269S	probably benign	Het
Cdc7	A	T	5: 106,972,910		probably benign	Het
Cdh2	A	T	18: 16,629,681	V402D	possibly damaging	Het
Cwc27	C	A	13: 104,661,357	E365*	probably null	Het
Dcdc5	G	A	2: 106,349,690		noncoding transcript	Het
Eif4g3	T	C	4: 138,175,840		probably benign	Het
Elovl4	C	T	9: 83,785,034		probably null	Het
Fhl5	T	G	4: 25,213,610	I109L	probably damaging	Het
Gm16181	A	G	17: 35,223,896		probably benign	Het
Gna14	A	G	19: 16,608,119	Y287C	probably benign	Het
Greb1	A	T	12: 16,680,267	C1720S	probably benign	Het
Gypa	T	A	8: 80,509,460	S165T	probably benign	Het
Hephl1	T	C	9: 15,081,945	D531G	probably damaging	Het
Hsf2bp	A	T	17: 32,007,718	L221Q	probably damaging	Het
Itsn1	A	G	16: 91,820,796		probably benign	Het
Kif7	T	C	7: 79,702,272	E914G	probably benign	Het
Lrp1b	T	C	2: 40,750,914	D3506G	probably benign	Het
Lrrc28	T	C	7: 67,545,387	N225S	probably damaging	Het
Lysmd4	T	A	7: 67,226,177	L196Q	probably benign	Het
Megf8	T	C	7: 25,342,395	C1245R	probably damaging	Het
Mib2	C	T	4: 155,659,460	G42S	probably damaging	Het
Mindy2	T	A	9: 70,631,052	I334L	possibly damaging	Het
Mrm1	A	G	11: 84,814,713	S287P	probably damaging	Het
Ncor1	A	G	11: 62,343,230	I382T	probably damaging	Het
Nectin1	A	G	9: 43,791,045	T30A	probably benign	Het
Nelfe	A	G	17: 34,854,239	E250G	possibly damaging	Het
Nsd1	C	A	13: 55,246,578	T767K	possibly damaging	Het
Olfr1357	G	A	10: 78,612,633	P3S	probably benign	Het
Olfr1465	A	G	19: 13,313,748	I179T	probably benign	Het
Olfr1507	T	A	14: 52,490,257	K236*	probably null	Het
Olfr347	A	T	2: 36,735,001	K227*	probably null	Het
Pcnx	A	G	12: 81,917,944	D295G	probably damaging	Het
Pex14	A	G	4: 148,961,546	V309A	possibly damaging	Het
Phf14	C	T	6: 11,933,601		probably benign	Het
Pnpla6	A	G	8: 3,523,333	D399G	possibly damaging	Het
Prim1	A	G	10: 128,026,554	D340G	probably damaging	Het
Rb1	A	G	14: 73,216,767	F564L	probably damaging	Het
Rcc1l	G	C	5: 134,176,555	R54G	probably benign	Het
Rnf151	G	A	17: 24,717,456		probably benign	Het
Rnf40	T	C	7: 127,592,876	L398P	probably damaging	Het
Robo1	C	T	16: 72,972,286	T531I	probably benign	Het
Rps6ka2	A	T	17: 7,254,437	I198F	probably damaging	Het
Sgk2	T	C	2: 163,004,244	L264P	probably damaging	Het
Slc26a6	T	A	9: 108,857,670	I281N	probably damaging	Het
Tnxb	A	T	17: 34,716,947	K2657N	probably benign	Het
Tor1aip1	G	A	1: 156,035,808	T143M	probably damaging	Het
Tpr	A	G	1: 150,408,858	D358G	probably benign	Het
Vstm2b	T	C	7: 40,902,475	S76P	probably damaging	Het
Wdr33	A	G	18: 31,886,739	K488R	possibly damaging	Het
Ythdc2	T	A	18: 44,864,848		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
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	synonymous	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

Predicted Primers

PCR Primer
(F):5'- GATTTCCGCACCCCATGAAACAATG -3'
(R):5'- TGCAACCTGACATCTCTGATGGC -3'

Sequencing Primer
(F):5'- GCTGTAGAAATTCTAGGCACTG -3'
(R):5'- CTGACATCTCTGATGGCAAAAG -3'

Posted On

2013-06-11