Mutagenetix > Incidental Mutation

Incidental Mutation 'R2495:Ambn'

250951

Institutional Source

Beutler Lab

Gene Symbol

Ambn

Ensembl Gene

ENSMUSG00000029288

Gene Name

ameloblastin

Synonyms

MMRRC Submission

040409-MU

Accession Numbers

Essential gene?

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

Stock #

R2495 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88603850-88616390 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88615663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 349 (I349T)

Ref Sequence

ENSEMBL: ENSMUSP00000031226 (fasta)

Gene Model

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

AlphaFold

O55189

Predicted Effect

probably benign
Transcript: ENSMUST00000031226
AA Change: I349T

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000031226
Gene: ENSMUSG00000029288
AA Change: I349T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000198265
AA Change: I364T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000142944
Gene: ENSMUSG00000029288
AA Change: I364T

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (63/64)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	C	3: 36,536,109 (GRCm39)	F125S	unknown	Het
Abhd17c	C	T	7: 83,759,884 (GRCm39)	W290*	probably null	Het
Acsl5	A	T	19: 55,282,031 (GRCm39)	K536*	probably null	Het
Adamts14	A	T	10: 61,034,749 (GRCm39)		probably null	Het
Agbl3	A	G	6: 34,823,699 (GRCm39)	H788R	probably damaging	Het
Agrp	T	C	8: 106,293,408 (GRCm39)	N126D	possibly damaging	Het
Ank1	T	C	8: 23,622,280 (GRCm39)	W1610R	probably damaging	Het
Aox3	T	C	1: 58,227,567 (GRCm39)	L1224P	probably damaging	Het
Arhgef28	A	T	13: 98,165,881 (GRCm39)		probably benign	Het
Bcl11b	G	A	12: 107,881,706 (GRCm39)	H798Y	possibly damaging	Het
Capn11	T	A	17: 45,949,689 (GRCm39)	M426L	probably damaging	Het
Cep95	A	G	11: 106,700,108 (GRCm39)	K290E	possibly damaging	Het
Cic	A	G	7: 24,991,201 (GRCm39)		probably benign	Het
Cnbd1	A	T	4: 18,860,579 (GRCm39)	M389K	probably damaging	Het
Cnksr1	A	T	4: 133,959,473 (GRCm39)	L387Q	probably benign	Het
Cntrob	G	T	11: 69,213,749 (GRCm39)	P14T	probably damaging	Het
Crmp1	G	A	5: 37,403,441 (GRCm39)		probably null	Het
Dido1	A	G	2: 180,331,181 (GRCm39)	V89A	probably benign	Het
Dnah7a	T	A	1: 53,645,040 (GRCm39)	I999F	probably damaging	Het
Dsp	T	A	13: 38,377,453 (GRCm39)	L1746Q	possibly damaging	Het
Dst	T	C	1: 34,238,454 (GRCm39)	S3897P	probably damaging	Het
Fbxo10	A	G	4: 45,040,545 (GRCm39)	F887L	probably benign	Het
Gm21961	T	A	15: 64,886,722 (GRCm39)	H11L	unknown	Het
Gm4559	A	T	7: 141,827,557 (GRCm39)	C182S	unknown	Het
Golga3	T	A	5: 110,355,462 (GRCm39)	S939T	probably damaging	Het
Got2	A	G	8: 96,614,918 (GRCm39)	S6P	possibly damaging	Het
Gpatch8	A	T	11: 102,369,307 (GRCm39)	H1410Q	probably damaging	Het
Gpx5	T	A	13: 21,475,610 (GRCm39)	T39S	probably benign	Het
Grin2b	T	C	6: 135,710,180 (GRCm39)	Y1122C	probably damaging	Het
Gsn	A	C	2: 35,193,205 (GRCm39)	N538T	probably damaging	Het
Helz2	A	G	2: 180,874,705 (GRCm39)	S1930P	probably damaging	Het
Krt6b	A	T	15: 101,586,757 (GRCm39)	F286Y	probably damaging	Het
Lrriq1	G	A	10: 103,038,242 (GRCm39)	R854C	probably damaging	Het
Mipol1	A	T	12: 57,507,776 (GRCm39)		probably benign	Het
Mmp19	A	G	10: 128,626,819 (GRCm39)		probably benign	Het
Msc	T	G	1: 14,825,473 (GRCm39)	Y167S	probably benign	Het
Mycbp2	T	G	14: 103,437,554 (GRCm39)	K2103Q	probably damaging	Het
Myh11	C	A	16: 14,023,421 (GRCm39)	D1586Y	probably damaging	Het
Nol6	A	T	4: 41,118,427 (GRCm39)	D791E	probably damaging	Het
Pcm1	A	G	8: 41,746,616 (GRCm39)	T1272A	probably benign	Het
Phgdh	A	G	3: 98,247,105 (GRCm39)	L15P	probably damaging	Het
Ptprk	A	T	10: 28,351,074 (GRCm39)		probably benign	Het
Ralgapa2	G	T	2: 146,203,320 (GRCm39)	D1091E	possibly damaging	Het
Rbbp8nl	C	A	2: 179,920,895 (GRCm39)	K496N	probably null	Het
Rbm26	T	C	14: 105,388,748 (GRCm39)		probably benign	Het
Rfx6	A	C	10: 51,602,771 (GRCm39)		probably benign	Het
Rras	G	A	7: 44,667,488 (GRCm39)	G17R	probably damaging	Het
Shisa6	G	A	11: 66,108,459 (GRCm39)	P473S	probably damaging	Het
Slc9a3	A	G	13: 74,306,822 (GRCm39)	K316E	probably damaging	Het
Slco1a7	C	A	6: 141,711,503 (GRCm39)	M69I	probably benign	Het
Spata31d1a	A	G	13: 59,849,807 (GRCm39)	S774P	possibly damaging	Het
Spsb4	T	C	9: 96,877,840 (GRCm39)	Y161C	probably damaging	Het
Taf3	G	T	2: 9,957,644 (GRCm39)	N174K	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Trnt1	T	A	6: 106,750,330 (GRCm39)	V78E	possibly damaging	Het
Ubox5	A	T	2: 130,441,441 (GRCm39)	C415*	probably null	Het
Ucn2	C	T	9: 108,815,477 (GRCm39)	P80S	possibly damaging	Het
Vmn2r10	G	A	5: 109,143,961 (GRCm39)	T663I	probably damaging	Het
Wdfy1	A	T	1: 79,685,222 (GRCm39)	F337L	probably null	Het
Zfp287	A	T	11: 62,605,459 (GRCm39)	C483S	probably damaging	Het
Zyg11b	A	G	4: 108,101,921 (GRCm39)		probably null	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
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
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'- ATCTGTTACCAAAGGCCCTG -3'
(R):5'- TTATCAGGGCTCTTGGAAACGC -3'

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

Posted On

2014-12-04