Mutagenetix > Incidental Mutations

Incidental Mutation 'R5422:Ambn'

426627

Institutional Source

Beutler Lab

Gene Symbol

Ambn

Ensembl Gene

ENSMUSG00000029288

Gene Name

ameloblastin

Synonyms

MMRRC Submission

042846-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.271) question?

Stock #

R5422 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88455991-88468531 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 88464511 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 null
Transcript: ENSMUST00000031226

SMART Domains

Protein: ENSMUSP00000031226
Gene: ENSMUSG00000029288

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

Predicted Effect

probably null
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: 97.1%
20x: 94.9%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	T	C	8: 113,698,974	S1219G	probably benign	Het
Adgrg5	T	A	8: 94,933,952	I73N	probably damaging	Het
Agmat	C	A	4: 141,755,833	H193N	probably damaging	Het
Atp8b5	T	A	4: 43,366,644	C803S	probably benign	Het
BC005561	T	C	5: 104,519,646	I678T	probably damaging	Het
Btaf1	A	T	19: 36,951,107	R109S	probably benign	Het
Btnl6	C	T	17: 34,514,107	G261R	possibly damaging	Het
Cd163l1	A	T	7: 140,224,155	H422L	probably benign	Het
Clk3	A	G	9: 57,765,438	V27A	probably benign	Het
Clu	A	G	14: 65,975,602	S146G	probably damaging	Het
Cyp2w1	T	C	5: 139,352,773	F43L	probably benign	Het
Elf3	C	T	1: 135,255,040	E316K	probably damaging	Het
Epha5	A	T	5: 84,331,490	D218E	probably damaging	Het
Ereg	T	C	5: 91,074,807		probably null	Het
Ewsr1	A	G	11: 5,080,668		probably benign	Het
Fat4	A	G	3: 38,887,245	I96V	possibly damaging	Het
Fgl2	T	G	5: 21,375,810	N383K	probably damaging	Het
Fkbp11	A	T	15: 98,728,108		probably null	Het
Fn3k	C	A	11: 121,450,122	P201Q	probably damaging	Het
Fsip2	A	G	2: 82,982,228	I2964V	probably benign	Het
Gbx1	C	T	5: 24,504,669	V393I	possibly damaging	Het
Gch1	C	T	14: 47,157,449	A187T	probably damaging	Het
Ghdc	C	A	11: 100,769,194	K242N	probably benign	Het
Ghrhr	A	G	6: 55,388,203	H394R	probably benign	Het
Gje1	G	A	10: 14,716,684	S118L	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,465,228	S236R	probably benign	Het
Kcnj5	A	G	9: 32,317,705	Y66H	probably benign	Het
Kif15	T	A	9: 122,984,889		probably null	Het
Magi3	C	T	3: 104,051,368	C467Y	probably damaging	Het
Map7	G	T	10: 20,266,766	V303F	probably damaging	Het
Mapk11	A	G	15: 89,146,285	L135P	probably damaging	Het
Mapkapk5	T	A	5: 121,531,722		probably null	Het
Myh7b	A	C	2: 155,631,034	Q1405P	probably damaging	Het
Nalcn	A	T	14: 123,515,365	I328N	probably damaging	Het
Nprl2	C	A	9: 107,543,597	R144S	probably benign	Het
Ogfr	G	T	2: 180,595,274	D551Y	possibly damaging	Het
Ogfr	A	T	2: 180,595,275	D551V	probably benign	Het
Olfr250	A	T	9: 38,367,974	T143S	probably benign	Het
Olfr524	A	T	7: 140,202,392	V126E	probably damaging	Het
Parp14	T	C	16: 35,866,175	K101E	probably benign	Het
Pcdhb16	A	T	18: 37,479,867	T627S	probably damaging	Het
Pdzrn4	G	A	15: 92,677,621	G303S	probably benign	Het
Plcl1	A	T	1: 55,697,384	Y628F	probably benign	Het
Ptpn9	T	A	9: 57,033,157	W194R	probably damaging	Het
Ranbp9	A	T	13: 43,419,626	M474K	probably benign	Het
Rasgef1a	T	A	6: 118,088,134	F370Y	probably damaging	Het
Rassf5	C	A	1: 131,181,174	R218L	possibly damaging	Het
Serpine2	C	A	1: 79,816,875	V114L	probably benign	Het
Serpine2	T	C	1: 79,821,489	Y16C	probably benign	Het
Sgms1	G	T	19: 32,159,832	N111K	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc45a2	C	T	15: 11,027,785	T480I	probably damaging	Het
Tbc1d17	A	T	7: 44,848,868	M1K	probably null	Het
Tcf12	A	T	9: 71,869,038	H403Q	probably damaging	Het
Thsd7b	T	C	1: 129,921,334	S928P	probably benign	Het
Tjp1	A	T	7: 65,302,967	F1540I	probably damaging	Het
Tph2	T	A	10: 115,079,764	D457V	possibly damaging	Het
Usp9y	T	C	Y: 1,314,676	I2112V	probably benign	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Zfp335	T	C	2: 164,907,730	K249R	probably damaging	Het
Zfp54	C	A	17: 21,434,526	S427R	probably benign	Het
Zfp607b	A	G	7: 27,702,388	T90A	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
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'- ACTGGAGCCATGTCAATATAAGAC -3'
(R):5'- GACTTTTAAGAGTTCCAGGAACAC -3'

Sequencing Primer
(F):5'- CTAGAGGTGTACTCAGTTTG -3'
(R):5'- GATTAGTGTGAAAACTTAGCAC -3'

Posted On

2016-09-01