Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R0563 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88603850-88616390 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 88611309 bp (GRCm39)

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]

AlphaFold

O55189

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
Adgrb3	G	T	1: 25,586,635 (GRCm39)	P146T	probably damaging	Het
Ankrd36	A	T	11: 5,579,322 (GRCm39)	E870D	probably benign	Het
Cdc123	T	C	2: 5,803,212 (GRCm39)	N269S	probably benign	Het
Cdc7	A	T	5: 107,120,776 (GRCm39)		probably benign	Het
Cdh2	A	T	18: 16,762,738 (GRCm39)	V402D	possibly damaging	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Dcdc5	G	A	2: 106,180,035 (GRCm39)		noncoding transcript	Het
Eif4g3	T	C	4: 137,903,151 (GRCm39)		probably benign	Het
Elovl4	C	T	9: 83,667,087 (GRCm39)		probably null	Het
Fhl5	T	G	4: 25,213,610 (GRCm39)	I109L	probably damaging	Het
Gm16181	A	G	17: 35,442,872 (GRCm39)		probably benign	Het
Gna14	A	G	19: 16,585,483 (GRCm39)	Y287C	probably benign	Het
Greb1	A	T	12: 16,730,268 (GRCm39)	C1720S	probably benign	Het
Gypa	T	A	8: 81,236,089 (GRCm39)	S165T	probably benign	Het
Hephl1	T	C	9: 14,993,241 (GRCm39)	D531G	probably damaging	Het
Hsf2bp	A	T	17: 32,226,692 (GRCm39)	L221Q	probably damaging	Het
Itsn1	A	G	16: 91,617,684 (GRCm39)		probably benign	Het
Kif7	T	C	7: 79,352,020 (GRCm39)	E914G	probably benign	Het
Lrp1b	T	C	2: 40,640,926 (GRCm39)	D3506G	probably benign	Het
Lrrc28	T	C	7: 67,195,135 (GRCm39)	N225S	probably damaging	Het
Lysmd4	T	A	7: 66,875,925 (GRCm39)	L196Q	probably benign	Het
Megf8	T	C	7: 25,041,820 (GRCm39)	C1245R	probably damaging	Het
Mgat4f	A	G	1: 134,317,777 (GRCm39)	K183R	probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Mindy2	T	A	9: 70,538,334 (GRCm39)	I334L	possibly damaging	Het
Mrm1	A	G	11: 84,705,539 (GRCm39)	S287P	probably damaging	Het
Ncor1	A	G	11: 62,234,056 (GRCm39)	I382T	probably damaging	Het
Nectin1	A	G	9: 43,702,342 (GRCm39)	T30A	probably benign	Het
Nelfe	A	G	17: 35,073,215 (GRCm39)	E250G	possibly damaging	Het
Nsd1	C	A	13: 55,394,391 (GRCm39)	T767K	possibly damaging	Het
Or1i2	G	A	10: 78,448,467 (GRCm39)	P3S	probably benign	Het
Or1j18	A	T	2: 36,625,013 (GRCm39)	K227*	probably null	Het
Or4e5	T	A	14: 52,727,714 (GRCm39)	K236*	probably null	Het
Or5b111	A	G	19: 13,291,112 (GRCm39)	I179T	probably benign	Het
Pcnx1	A	G	12: 81,964,718 (GRCm39)	D295G	probably damaging	Het
Pex14	A	G	4: 149,046,003 (GRCm39)	V309A	possibly damaging	Het
Phf14	C	T	6: 11,933,600 (GRCm39)		probably benign	Het
Pnpla6	A	G	8: 3,573,333 (GRCm39)	D399G	possibly damaging	Het
Prim1	A	G	10: 127,862,423 (GRCm39)	D340G	probably damaging	Het
Rb1	A	G	14: 73,454,207 (GRCm39)	F564L	probably damaging	Het
Rcc1l	G	C	5: 134,205,394 (GRCm39)	R54G	probably benign	Het
Rnf151	G	A	17: 24,936,430 (GRCm39)		probably benign	Het
Rnf40	T	C	7: 127,192,048 (GRCm39)	L398P	probably damaging	Het
Robo1	C	T	16: 72,769,174 (GRCm39)	T531I	probably benign	Het
Rps6ka2	A	T	17: 7,521,836 (GRCm39)	I198F	probably damaging	Het
Sgk2	T	C	2: 162,846,164 (GRCm39)	L264P	probably damaging	Het
Slc26a6	T	A	9: 108,734,869 (GRCm39)	I281N	probably damaging	Het
Tnxb	A	T	17: 34,935,921 (GRCm39)	K2657N	probably benign	Het
Tor1aip1	G	A	1: 155,911,554 (GRCm39)	T143M	probably damaging	Het
Tpr	A	G	1: 150,284,609 (GRCm39)	D358G	probably benign	Het
Vstm2b	T	C	7: 40,551,899 (GRCm39)	S76P	probably damaging	Het
Wdr33	A	G	18: 32,019,792 (GRCm39)	K488R	possibly damaging	Het
Ythdc2	T	A	18: 44,997,915 (GRCm39)		probably benign	Het

Other mutations in Ambn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Ambn	APN	5	88,607,218 (GRCm39)	missense	probably damaging	0.99
IGL01139:Ambn	APN	5	88,612,376 (GRCm39)	splice site	probably benign
IGL01318:Ambn	APN	5	88,608,554 (GRCm39)	splice site	probably benign
IGL02139:Ambn	APN	5	88,613,149 (GRCm39)	missense	probably benign
IGL02261:Ambn	APN	5	88,604,807 (GRCm39)	missense	probably damaging	1.00
IGL02743:Ambn	APN	5	88,612,343 (GRCm39)	missense	probably damaging	0.99
IGL03329:Ambn	APN	5	88,609,527 (GRCm39)	missense	probably benign	0.34
R0242:Ambn	UTSW	5	88,615,831 (GRCm39)	missense	possibly damaging	0.85
R0242:Ambn	UTSW	5	88,615,831 (GRCm39)	missense	possibly damaging	0.85
R1649:Ambn	UTSW	5	88,612,340 (GRCm39)	missense	probably benign	0.16
R2118:Ambn	UTSW	5	88,608,617 (GRCm39)	splice site	probably benign
R2121:Ambn	UTSW	5	88,608,617 (GRCm39)	splice site	probably benign
R2124:Ambn	UTSW	5	88,608,617 (GRCm39)	splice site	probably benign
R2495:Ambn	UTSW	5	88,615,663 (GRCm39)	missense	probably benign	0.05
R2877:Ambn	UTSW	5	88,608,559 (GRCm39)	splice site	probably benign
R3779:Ambn	UTSW	5	88,613,201 (GRCm39)	splice site	probably benign
R4760:Ambn	UTSW	5	88,615,566 (GRCm39)	missense	probably damaging	1.00
R5422:Ambn	UTSW	5	88,612,370 (GRCm39)	critical splice donor site	probably null
R5755:Ambn	UTSW	5	88,612,350 (GRCm39)	splice site	probably null
R5883:Ambn	UTSW	5	88,615,688 (GRCm39)	nonsense	probably null
R5970:Ambn	UTSW	5	88,615,810 (GRCm39)	missense	possibly damaging	0.88
R6846:Ambn	UTSW	5	88,609,574 (GRCm39)	missense	possibly damaging	0.65
R7166:Ambn	UTSW	5	88,615,387 (GRCm39)	missense	possibly damaging	0.94
R7500:Ambn	UTSW	5	88,609,493 (GRCm39)	missense	possibly damaging	0.95
R7809:Ambn	UTSW	5	88,615,683 (GRCm39)	missense	probably benign	0.00
R8306:Ambn	UTSW	5	88,607,281 (GRCm39)	missense	possibly damaging	0.95
R8898:Ambn	UTSW	5	88,613,051 (GRCm39)	critical splice donor site	probably null
R9481:Ambn	UTSW	5	88,613,050 (GRCm39)	critical splice donor site	probably null

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