Mutagenetix > Incidental Mutations

Incidental Mutation 'R2877:Ambn'

260596

Institutional Source

Beutler Lab

Gene Symbol

Ambn

Ensembl Gene

ENSMUSG00000029288

Gene Name

ameloblastin

Synonyms

MMRRC Submission

040465-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R2877 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88455991-88468531 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 88460700 bp (GRCm38)

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

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

96% (66/69)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	C	5: 109,738,945		probably benign	Het
Abca13	C	T	11: 9,291,889	L1251F	possibly damaging	Het
Accsl	A	T	2: 93,859,410	M384K	probably damaging	Het
Adssl1	A	C	12: 112,634,189	K197N	probably damaging	Het
Alg11	A	G	8: 22,065,358	N170D	possibly damaging	Het
Anapc7	T	C	5: 122,428,156	Y43H	probably benign	Het
Anxa10	T	A	8: 62,060,339	I255F	probably damaging	Het
Atg2b	A	T	12: 105,664,009	Y374*	probably null	Het
Axl	T	A	7: 25,766,524	M563L	probably damaging	Het
Carmil2	A	G	8: 105,695,423	E1108G	probably damaging	Het
Casp1	T	C	9: 5,303,110	M188T	probably damaging	Het
Chd3	A	T	11: 69,361,172	C87*	probably null	Het
Col6a3	G	A	1: 90,775,599	T2475I	unknown	Het
Creb3l4	A	T	3: 90,242,308	S83R	probably damaging	Het
Cyp2a4	G	A	7: 26,312,187	E278K	possibly damaging	Het
Dync1li2	A	C	8: 104,429,415	Y265D	probably damaging	Het
Eif3f	G	A	7: 108,934,812		probably null	Het
Eipr1	C	T	12: 28,760,092	T22I	possibly damaging	Het
Fbxo48	A	G	11: 16,953,382	K3E	possibly damaging	Het
Fbxw13	A	G	9: 109,181,466	F368S	probably damaging	Het
Fbxw19	A	T	9: 109,485,970	W175R	probably damaging	Het
Fibcd1	G	A	2: 31,838,666	P60S	probably benign	Het
Foxa3	A	T	7: 19,014,880	M107K	probably benign	Het
Foxj2	G	A	6: 122,842,832	D560N	probably damaging	Het
Gfm2	A	G	13: 97,153,249	R181G	possibly damaging	Het
Gpr25	C	T	1: 136,260,815	G20D	possibly damaging	Het
Grin1	A	G	2: 25,297,629	V594A	probably damaging	Het
Itpripl1	A	G	2: 127,141,614	V196A	probably benign	Het
Kcns1	A	G	2: 164,164,762	I427T	probably damaging	Het
Kiz	T	C	2: 146,889,556	V322A	possibly damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Muc19	T	A	15: 91,893,006		noncoding transcript	Het
Naa16	A	G	14: 79,343,298	M592T	probably benign	Het
Nat6	A	T	9: 107,583,168	E87D	possibly damaging	Het
Ncapd3	T	A	9: 27,044,487		probably null	Het
Nebl	C	A	2: 17,434,929	D178Y	probably damaging	Het
Nedd1	T	A	10: 92,714,126	N99I	possibly damaging	Het
Nuak1	T	C	10: 84,375,345	D293G	possibly damaging	Het
Olfr1036	T	C	2: 86,075,331	M197T	possibly damaging	Het
Olfr1487	A	T	19: 13,619,632	I157F	probably damaging	Het
Palb2	A	G	7: 122,114,429	V877A	probably damaging	Het
Rassf6	C	T	5: 90,606,805	V205I	probably damaging	Het
Rbak	A	G	5: 143,174,105	Y398H	probably damaging	Het
Rcbtb1	A	G	14: 59,210,592		probably benign	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Smpdl3a	C	A	10: 57,809,085	T317K	probably damaging	Het
Speer4e	C	T	5: 14,937,116	V92M	probably damaging	Het
Syne2	A	G	12: 76,000,831	I4009V	probably benign	Het
Tarbp1	G	A	8: 126,427,832	L1474F	probably damaging	Het
Tchh	A	G	3: 93,444,228	E325G	unknown	Het
Trpc4	T	C	3: 54,291,340	S562P	probably damaging	Het
Ttn	T	C	2: 76,737,065	D27828G	probably damaging	Het
Ulk4	T	C	9: 121,260,039	D258G	probably benign	Het
Vmn1r215	A	G	13: 23,076,561	H257R	probably benign	Het
Vmn2r56	A	C	7: 12,711,027	M433R	probably benign	Het
Vmn2r76	C	A	7: 86,225,993	C592F	probably benign	Het
Zcchc8	C	T	5: 123,700,703	V591I	probably benign	Het
Znhit6	G	C	3: 145,576,654	G96A	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
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
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
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'- AGACTGAACATGGCAAAGCTAC -3'
(R):5'- TGCATTCTCTGTGCATCAGC -3'

Sequencing Primer
(F):5'- CTGAACATGGCAAAGCTACATTTTAC -3'
(R):5'- ATTAACTGTGTAGCCCAGGC -3'

Posted On

2015-01-23