Mutagenetix > Incidental Mutation

Incidental Mutation 'R7500:Ambn'

581415

Institutional Source

Beutler Lab

Gene Symbol

Ambn

Ensembl Gene

ENSMUSG00000029288

Gene Name

ameloblastin

Synonyms

MMRRC Submission

045573-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R7500 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88603850-88616390 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88609493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 67 (Y67F)

Ref Sequence

ENSEMBL: ENSMUSP00000142944 (fasta)

Gene Model

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

AlphaFold

O55189

Predicted Effect

probably benign
Transcript: ENSMUST00000031226
AA Change: Y67F

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000031226
Gene: ENSMUSG00000029288
AA Change: Y67F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198265
AA Change: Y67F

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

SMART Domains

Protein: ENSMUSP00000142944
Gene: ENSMUSG00000029288
AA Change: Y67F

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (49/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1a	A	G	9: 119,173,564 (GRCm39)	M146V	probably benign	Het
Adcy1	C	T	11: 7,094,762 (GRCm39)	R563C	probably damaging	Het
Ankrd42	T	A	7: 92,241,080 (GRCm39)	E426D	probably benign	Het
Ankzf1	A	G	1: 75,174,623 (GRCm39)	T538A	probably benign	Het
Arhgap20	A	G	9: 51,751,802 (GRCm39)	I418V	probably benign	Het
Arhgef28	A	G	13: 98,115,003 (GRCm39)	Y616H	probably benign	Het
B4galt4	T	C	16: 38,588,376 (GRCm39)	F340S	probably damaging	Het
Bmp1	C	T	14: 70,727,562 (GRCm39)	E674K	probably benign	Het
Ccr9	T	A	9: 123,608,534 (GRCm39)	V72D	probably damaging	Het
Chd2	T	A	7: 73,101,556 (GRCm39)	K1390I	probably damaging	Het
Col5a3	C	T	9: 20,711,585 (GRCm39)	R513Q	unknown	Het
Cracd	A	G	5: 76,805,905 (GRCm39)	R126G	unknown	Het
Cttnbp2	G	T	6: 18,378,419 (GRCm39)	N1472K	probably benign	Het
Edn3	A	G	2: 174,621,328 (GRCm39)		probably null	Het
Eps15l1	A	G	8: 73,136,634 (GRCm39)	F331L	probably damaging	Het
Gm45337	CACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCTACAGCCTCC	CACAGCCTCC	7: 141,698,021 (GRCm39)		probably benign	Het
Lrrc56	A	G	7: 140,789,443 (GRCm39)	S487G	probably benign	Het
Moxd2	A	G	6: 40,868,746 (GRCm39)	T93A	probably benign	Het
Ngp	G	T	9: 110,248,833 (GRCm39)		probably null	Het
Npr2	T	C	4: 43,650,415 (GRCm39)	V970A	probably damaging	Het
Or4a79	T	C	2: 89,552,281 (GRCm39)	Y58C	possibly damaging	Het
Or5an10	T	C	19: 12,276,041 (GRCm39)	S152G	probably damaging	Het
Or8b9	T	C	9: 37,766,314 (GRCm39)	S67P	probably damaging	Het
Or8g28	T	G	9: 39,169,762 (GRCm39)	I69L	probably benign	Het
Pacc1	A	G	1: 191,078,910 (GRCm39)		probably null	Het
Pdf	A	T	8: 107,773,781 (GRCm39)	F221I	probably damaging	Het
Plekhn1	A	C	4: 156,317,771 (GRCm39)	S205R	probably benign	Het
Ppp6r1	G	A	7: 4,639,129 (GRCm39)	A606V	probably benign	Het
Prpf38b	C	T	3: 108,812,446 (GRCm39)	V256I	probably benign	Het
Rbbp5	T	A	1: 132,421,879 (GRCm39)	H291Q	probably benign	Het
Rnf169	T	C	7: 99,629,445 (GRCm39)	E66G	probably damaging	Het
Rp1	T	A	1: 4,381,501 (GRCm39)	N328Y	unknown	Het
Skint5	A	T	4: 113,417,035 (GRCm39)	V1138E	unknown	Het
Slc27a4	T	C	2: 29,702,717 (GRCm39)	V539A	probably damaging	Het
Smo	G	T	6: 29,755,534 (GRCm39)	R402L	probably benign	Het
Srgap2	A	T	1: 131,364,569 (GRCm39)	L4Q	probably damaging	Het
Tbxas1	A	T	6: 38,959,146 (GRCm39)	R110*	probably null	Het
Thoc7	A	C	14: 13,951,204 (GRCm38)		probably null	Het
Tmub1	G	A	5: 24,652,507 (GRCm39)		probably benign	Het
Tnrc6a	A	G	7: 122,772,673 (GRCm39)		probably null	Het
Traj19	T	A	14: 54,437,860 (GRCm39)	H6Q	unknown	Het
Trim30c	T	C	7: 104,036,758 (GRCm39)	E200G	probably benign	Het
Ubqlnl	A	T	7: 103,798,048 (GRCm39)	I483N	probably damaging	Het
Usp25	G	T	16: 76,874,089 (GRCm39)	R555L	probably damaging	Het
Vgll4	A	G	6: 114,839,293 (GRCm39)	S233P	probably damaging	Het
Vps13b	G	A	15: 35,910,670 (GRCm39)	C3478Y	possibly damaging	Het
Vwa8	T	A	14: 79,162,686 (GRCm39)		probably null	Het
Zfp977	A	G	7: 42,229,629 (GRCm39)	Y299H	probably damaging	Het
Zmynd11	T	A	13: 9,785,434 (GRCm39)	H17L	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
R0563:Ambn	UTSW	5	88,611,309 (GRCm39)	missense	probably benign	0.28
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
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'- TTATGGTATATTGTGACATGCCCAG -3'
(R):5'- TTCCCTAAGTAACAGGAGTTATAGGAC -3'

Sequencing Primer
(F):5'- TGGCTTACCCATTCCACA -3'
(R):5'- GTCAATTACTAATTTGTGTTTGCTGC -3'

Posted On

2019-10-17