Mutagenetix > Incidental Mutation

Incidental Mutation 'R5883:Ambn'

454515

Institutional Source

Beutler Lab

Gene Symbol

Ambn

Ensembl Gene

ENSMUSG00000029288

Gene Name

ameloblastin

Synonyms

MMRRC Submission

044086-MU

Accession Numbers

Essential gene?

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

Stock #

R5883 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88603850-88616390 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 88615688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 372 (Y372*)

Ref Sequence

ENSEMBL: ENSMUSP00000142944 (fasta)

Gene Model

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

AlphaFold

O55189

Predicted Effect

probably null
Transcript: ENSMUST00000031226
AA Change: Y357*

SMART Domains

Protein: ENSMUSP00000031226
Gene: ENSMUSG00000029288
AA Change: Y357*

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

Predicted Effect

probably null
Transcript: ENSMUST00000198265
AA Change: Y372*

SMART Domains

Protein: ENSMUSP00000142944
Gene: ENSMUSG00000029288
AA Change: Y372*

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

Meta Mutation Damage Score

0.9703

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 95.9%
20x: 83.7%

Validation Efficiency

100% (70/70)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	A	8: 120,872,380 (GRCm39)	V103I	possibly damaging	Het
Aass	G	A	6: 23,072,993 (GRCm39)	T920I	probably benign	Het
Akirin2	A	G	4: 34,565,256 (GRCm39)	I168V	possibly damaging	Het
Ano3	T	A	2: 110,711,209 (GRCm39)	E85V	probably null	Het
Bmf	C	T	2: 118,377,447 (GRCm39)		silent	Het
Bmper	T	A	9: 23,317,970 (GRCm39)	S530T	probably benign	Het
Bop1	T	C	15: 76,339,049 (GRCm39)	D383G	probably damaging	Het
Bub1b	T	A	2: 118,440,363 (GRCm39)	Y156N	probably damaging	Het
Cacna1h	A	G	17: 25,595,896 (GRCm39)	V1987A	probably benign	Het
Cd84	T	C	1: 171,700,405 (GRCm39)	V174A	possibly damaging	Het
Cep290	T	A	10: 100,359,261 (GRCm39)	L997Q	probably benign	Het
Chil4	C	T	3: 106,117,886 (GRCm39)	R128H	possibly damaging	Het
Cpne3	A	T	4: 19,552,314 (GRCm39)	V106D	possibly damaging	Het
D6Wsu163e	A	G	6: 126,943,879 (GRCm39)	E425G	probably damaging	Het
Dlgap1	A	T	17: 70,824,008 (GRCm39)		probably benign	Het
Dnhd1	C	A	7: 105,369,711 (GRCm39)	H4379N	probably damaging	Het
Gm10309	A	G	17: 86,806,185 (GRCm39)		probably benign	Het
Gm6264	G	A	1: 85,148,903 (GRCm39)		probably benign	Het
Has2	T	A	15: 56,531,459 (GRCm39)	I419F	possibly damaging	Het
Hscb	A	G	5: 110,987,444 (GRCm39)	C51R	probably benign	Het
Ighv1-61	T	C	12: 115,323,183 (GRCm39)	S4G	probably benign	Het
Islr2	G	T	9: 58,105,998 (GRCm39)	Q465K	probably benign	Het
Jakmip2	T	C	18: 43,715,059 (GRCm39)	I156V	possibly damaging	Het
Klk1b24	A	G	7: 43,839,787 (GRCm39)	I49V	probably benign	Het
Krt90	C	T	15: 101,461,654 (GRCm39)		probably benign	Het
Larp1	C	T	11: 57,933,125 (GRCm39)	S243F	probably damaging	Het
Lrp4	T	C	2: 91,318,778 (GRCm39)	Y872H	probably benign	Het
Maip1	T	C	1: 57,446,260 (GRCm39)	M110T	probably damaging	Het
Marchf7	G	A	2: 60,064,786 (GRCm39)	R354Q	probably damaging	Het
Med12l	G	T	3: 58,998,889 (GRCm39)	E605D	probably damaging	Het
Nt5c1a	T	A	4: 123,110,049 (GRCm39)		probably null	Het
Or2j6	T	A	7: 139,980,101 (GRCm39)	Y286F	probably damaging	Het
Or5ac25	A	T	16: 59,182,078 (GRCm39)	C168S	probably damaging	Het
Or5p66	C	T	7: 107,885,451 (GRCm39)	S294N	probably damaging	Het
Pdzd9	T	A	7: 120,267,776 (GRCm39)	E13V	possibly damaging	Het
Ppip5k2	C	T	1: 97,635,535 (GRCm39)	A1100T	possibly damaging	Het
Prkdc	C	A	16: 15,533,778 (GRCm39)	Q1539K	probably benign	Het
Rad54l	C	G	4: 115,956,243 (GRCm39)		probably benign	Het
Ric1	T	A	19: 29,573,389 (GRCm39)	I943N	probably damaging	Het
Rif1	T	A	2: 51,995,651 (GRCm39)		probably null	Het
Rpl12	T	C	2: 32,852,536 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,860,637 (GRCm39)		probably benign	Het
Scarb1	C	A	5: 125,417,971 (GRCm39)		probably benign	Het
Sox10	T	C	15: 79,040,463 (GRCm39)	E359G	probably damaging	Het
Taf5	A	G	19: 47,056,228 (GRCm39)	T9A	unknown	Het
Tmem128	C	T	5: 38,423,885 (GRCm39)	A33V	possibly damaging	Het
Tox	A	C	4: 6,697,444 (GRCm39)	V453G	probably benign	Het
Ubxn4	T	A	1: 128,183,867 (GRCm39)	C76S	probably damaging	Het
Vmn2r100	A	T	17: 19,743,786 (GRCm39)	Y483F	probably benign	Het
Xkr5	A	G	8: 18,990,806 (GRCm39)	S154P	probably damaging	Het
Zfp687	T	C	3: 94,919,355 (GRCm39)	N139S	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
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'- AGAAGGTCCAGAAGGCTCTC -3'
(R):5'- CACAAAGTAGCTGCTATGTCAAG -3'

Sequencing Primer
(F):5'- GAAGGCTCTCCACTGCAAGAG -3'
(R):5'- CAAGGTTATCAGGGCTCTTGGAAAC -3'

Posted On

2017-02-10