Mutagenetix > Incidental Mutation

Incidental Mutation 'R7166:Ambn'

557930

Institutional Source

Beutler Lab

Gene Symbol

Ambn

Ensembl Gene

ENSMUSG00000029288

Gene Name

ameloblastin

Synonyms

MMRRC Submission

045227-MU

Accession Numbers

Essential gene?

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

Stock #

R7166 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88603850-88616390 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88615387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 272 (L272P)

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: L257P

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031226
Gene: ENSMUSG00000029288
AA Change: L257P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198265
AA Change: L272P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142944
Gene: ENSMUSG00000029288
AA Change: L272P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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
Ash2l	C	A	8: 26,317,348 (GRCm39)	G335V	probably damaging	Het
Atp13a1	T	A	8: 70,251,966 (GRCm39)		probably null	Het
Atp13a2	G	A	4: 140,734,295 (GRCm39)	R1139Q	possibly damaging	Het
Atxn2	T	A	5: 121,934,460 (GRCm39)	N886K	possibly damaging	Het
Celsr3	G	T	9: 108,720,150 (GRCm39)	C2512F	probably damaging	Het
Cfap221	A	G	1: 119,875,843 (GRCm39)	V449A	probably benign	Het
Cfhr2	A	T	1: 139,758,839 (GRCm39)	C70*	probably null	Het
Chfr	C	A	5: 110,306,671 (GRCm39)	P472Q	probably benign	Het
Crybg2	G	A	4: 133,788,193 (GRCm39)	R22Q	probably damaging	Het
Eef2k	T	C	7: 120,483,995 (GRCm39)	F244L	probably damaging	Het
Efcab11	A	T	12: 99,849,614 (GRCm39)	M23K		Het
Eif4a3l2	A	G	6: 116,528,329 (GRCm39)	I69V	probably benign	Het
Ercc8	T	A	13: 108,305,967 (GRCm39)	M114K	possibly damaging	Het
Fam217a	T	C	13: 35,094,298 (GRCm39)	Y487C	probably benign	Het
Farsb	T	C	1: 78,447,821 (GRCm39)	N205S	probably benign	Het
Glra1	A	G	11: 55,405,904 (GRCm39)	F370S	probably benign	Het
Gm12258	T	A	11: 58,749,299 (GRCm39)	M158K		Het
Gm14305	T	A	2: 176,412,736 (GRCm39)	H209Q	probably damaging	Het
Gm4924	A	T	10: 82,214,035 (GRCm39)	Q611L	unknown	Het
H4c11	A	G	13: 21,919,321 (GRCm39)	H19R	unknown	Het
Haus6	T	C	4: 86,501,924 (GRCm39)	E649G	possibly damaging	Het
Hlcs	C	T	16: 94,063,585 (GRCm39)	D345N	possibly damaging	Het
Htt	C	A	5: 35,010,238 (GRCm39)	Q1564K	probably benign	Het
Itpr1	G	A	6: 108,355,151 (GRCm39)	V481I	probably benign	Het
Jak3	T	C	8: 72,134,960 (GRCm39)	I531T	probably damaging	Het
Kng1	T	A	16: 22,898,428 (GRCm39)	H609Q	probably benign	Het
Mdn1	T	A	4: 32,746,446 (GRCm39)	S4131T	probably damaging	Het
Npnt	A	G	3: 132,653,889 (GRCm39)	S31P	probably damaging	Het
Or1r1	A	T	11: 73,875,121 (GRCm39)	F104L	possibly damaging	Het
Or4c100	A	T	2: 88,355,990 (GRCm39)	Q21L	possibly damaging	Het
Or8h8	T	A	2: 86,753,092 (GRCm39)	K261N	probably damaging	Het
Paxx	A	T	2: 25,350,238 (GRCm39)	L123Q	probably damaging	Het
Prdm13	C	T	4: 21,683,528 (GRCm39)	R144Q	unknown	Het
Rab2b	C	A	14: 52,516,802 (GRCm39)		probably benign	Het
Rnf207	A	G	4: 152,396,237 (GRCm39)	I509T	probably damaging	Het
Ropn1l	T	C	15: 31,453,655 (GRCm39)	Q12R		Het
Ryr3	T	G	2: 112,705,373 (GRCm39)	Y847S	probably damaging	Het
Slc1a6	A	T	10: 78,648,646 (GRCm39)	T456S	possibly damaging	Het
Slc26a2	A	T	18: 61,331,901 (GRCm39)	M510K	possibly damaging	Het
Slc5a9	T	C	4: 111,741,036 (GRCm39)	T537A	probably benign	Het
Slc9b2	T	C	3: 135,031,939 (GRCm39)	Y132H	unknown	Het
Sltm	T	C	9: 70,492,132 (GRCm39)	L725S	probably damaging	Het
Spz1	A	G	13: 92,712,435 (GRCm39)	C14R	probably benign	Het
Srrm4	T	A	5: 116,609,301 (GRCm39)	Q172L	unknown	Het
Synj2bp	T	C	12: 81,551,289 (GRCm39)	D92G	probably benign	Het
Tmem169	A	C	1: 72,340,229 (GRCm39)	T220P	probably benign	Het
Ttn	T	A	2: 76,718,372 (GRCm39)	I7270F	unknown	Het
Txndc16	T	G	14: 45,420,611 (GRCm39)	N137H	probably benign	Het
Ubr5	A	G	15: 37,976,389 (GRCm39)	Y2499H		Het
Ugt2b38	T	C	5: 87,558,305 (GRCm39)	D452G	probably damaging	Het
Zfp12	T	A	5: 143,231,257 (GRCm39)	I560N	possibly damaging	Het
Zfp60	A	G	7: 27,448,937 (GRCm39)	K535R	possibly damaging	Het
Zfp960	T	A	17: 17,308,761 (GRCm39)	C492S	probably damaging	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
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'- AGTGTGTTTCGACAAAGCAGTC -3'
(R):5'- AGCAAGAAGTCCTGCATGGG -3'

Sequencing Primer
(F):5'- GCAGTCAGCCAACTCGC -3'
(R):5'- GCCCCAGGTGCCATTTGTG -3'

Posted On

2019-06-26