Mutagenetix > Incidental Mutations

Incidental Mutation 'R8306:Ambn'

641059

Institutional Source

Beutler Lab

Gene Symbol

Ambn

Ensembl Gene

ENSMUSG00000029288

Gene Name

ameloblastin

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R8306 (G1)

Quality Score

122.008

Status

Not validated

Chromosome

Chromosomal Location

88455991-88468531 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88459422 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 50 (E50K)

Ref Sequence

ENSEMBL: ENSMUSP00000142944 (fasta)

Gene Model

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

AlphaFold

O55189

Predicted Effect

probably damaging
Transcript: ENSMUST00000031226
AA Change: E50K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031226
Gene: ENSMUSG00000029288
AA Change: E50K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198265
AA Change: E50K

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142944
Gene: ENSMUSG00000029288
AA Change: E50K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	C	A	11: 101,411,368	V158F	probably damaging	Het
Adam1b	T	C	5: 121,503,149		probably benign	Het
Ash1l	A	G	3: 88,965,952	D14G	probably benign	Het
Asphd1	C	T	7: 126,948,612	R173H	probably damaging	Het
Atr	A	T	9: 95,920,370	T1772S		Het
Best3	T	C	10: 117,002,610	L191P	probably damaging	Het
Bola1	A	T	3: 96,197,201	S26T	probably benign	Het
Borcs6	T	C	11: 69,059,820	L8P	probably benign	Het
Brca1	T	G	11: 101,525,637	Q557P	probably damaging	Het
Brca2	G	A	5: 150,536,663	E468K	possibly damaging	Het
Btbd11	T	A	10: 85,598,545	C22*	probably null	Het
Capza2	T	A	6: 17,637,132	L4Q	probably benign	Het
Cc2d2b	T	A	19: 40,815,784	Y918*	probably null	Het
Ccdc163	T	C	4: 116,710,275	L67P	probably damaging	Het
Ccdc172	C	A	19: 58,536,590	Q160K	probably damaging	Het
Ccp110	T	A	7: 118,722,680	D519E	probably benign	Het
Cd300ld2	T	C	11: 115,013,822	Q73R	probably benign	Het
Cfap46	T	A	7: 139,656,580	D608V		Het
Cfap69	T	G	5: 5,604,287	Y549S	probably benign	Het
Cilp	G	A	9: 65,279,004	G794S	probably damaging	Het
Clu	A	C	14: 65,979,762	Q348P	probably damaging	Het
Cnot1	A	T	8: 95,747,021	N1153K	probably benign	Het
Col2a1	T	C	15: 97,990,968		probably null	Het
Col6a6	A	T	9: 105,784,073	I279N	probably damaging	Het
Dopey1	A	G	9: 86,520,206	D1153G	possibly damaging	Het
Dpyd	A	G	3: 119,412,173	K888E	probably benign	Het
Eif2ak4	T	C	2: 118,457,175	I1208T	possibly damaging	Het
Epha1	T	C	6: 42,358,788	I972V	probably damaging	Het
Fam13c	C	T	10: 70,553,153	T503I	probably benign	Het
Fbxo43	T	A	15: 36,161,867	Q398L	probably benign	Het
Fbxo44	A	G	4: 148,158,632	I57T	probably benign	Het
Flnc	T	C	6: 29,449,370	I1422T	probably benign	Het
Flrt2	T	C	12: 95,779,302	L138P	probably damaging	Het
Frem3	A	G	8: 80,612,211	K378E	possibly damaging	Het
Ganc	T	A	2: 120,422,079	D128E	probably benign	Het
Gm19965	T	C	1: 116,821,785	S399P		Het
H2-Q1	A	T	17: 35,321,021	K89*	probably null	Het
H2-Q2	A	T	17: 35,342,325		probably benign	Het
Hmmr	G	A	11: 40,721,672	S206F	probably damaging	Het
Homer2	T	A	7: 81,624,266	S125C	possibly damaging	Het
Hormad2	T	C	11: 4,408,714	K231R	probably benign	Het
Kif17	A	C	4: 138,277,909	K262Q	probably damaging	Het
Kif20a	G	A	18: 34,628,391	S279N	probably benign	Het
Lrp12	T	C	15: 39,878,054	N441D	probably damaging	Het
Lta4h	G	T	10: 93,482,264	L515F	possibly damaging	Het
Mavs	T	C	2: 131,246,550	S425P	probably benign	Het
Mcat	A	C	15: 83,555,391	D99E	probably damaging	Het
Nav2	C	A	7: 49,546,017	T1047K	probably benign	Het
Neb	T	A	2: 52,209,645	Y4731F	probably damaging	Het
Nectin4	G	C	1: 171,383,757	R283P	probably null	Het
Notch3	G	A	17: 32,158,112	T273I	probably damaging	Het
Olfr1205	G	A	2: 88,831,289	M57I	possibly damaging	Het
Olfr1415	T	G	1: 92,491,525	I77L	possibly damaging	Het
Olfr152	A	T	2: 87,783,486	*317C	probably null	Het
Olfr5	T	A	7: 6,480,869	I96F	possibly damaging	Het
Pcdha12	A	T	18: 37,022,585	T786S	probably benign	Het
Pde9a	A	G	17: 31,473,212	K520E	probably benign	Het
Piezo2	A	C	18: 63,075,730	L1404R	probably damaging	Het
Rrbp1	T	C	2: 143,950,496	S1321G	probably benign	Het
Rtkn	T	C	6: 83,151,916	V464A	probably damaging	Het
Rtn4rl1	T	C	11: 75,265,321	F193S	probably damaging	Het
Samd4	G	A	14: 46,884,917	V33I	probably damaging	Het
Scn5a	A	G	9: 119,521,291	L839P	probably damaging	Het
Slc6a17	C	A	3: 107,473,669	V507L	probably benign	Het
Stradb	C	A	1: 58,991,197	N203K	unknown	Het
Tenm2	T	C	11: 36,069,369	T1044A	possibly damaging	Het
Tmem245	A	C	4: 56,886,037	W860G	probably damaging	Het
Tpst2	G	A	5: 112,307,937	R114H	probably damaging	Het
Trappc10	C	T	10: 78,200,626	D920N	possibly damaging	Het
Vmn1r59	T	A	7: 5,453,967	I265L	probably benign	Het
Zbtb20	A	C	16: 43,618,737	D667A	probably damaging	Het
Zbtb4	T	A	11: 69,777,483	I344N	probably damaging	Het
Zdbf2	T	A	1: 63,304,075	C538S	possibly damaging	Het
Zmym6	A	T	4: 127,122,562	H712L	probably damaging	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
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
R8898:Ambn	UTSW	5	88465192	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TATGGCAGCCTCTCCACTTG -3'
(R):5'- AGCACAGAATAATGGGTTTCAACAC -3'

Sequencing Primer
(F):5'- GACATTTCATTCTGCCGTGAC -3'
(R):5'- CATGAGATAAAGTTGTAGTGAACGTC -3'

Posted On

2020-07-28