Mutagenetix > Incidental Mutation

Incidental Mutation 'R2124:Ambn'

229648

Institutional Source

Beutler Lab

Gene Symbol

Ambn

Ensembl Gene

ENSMUSG00000029288

Gene Name

ameloblastin

Synonyms

MMRRC Submission

040127-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R2124 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88455991-88468531 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 88460758 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142944 (fasta)

Gene Model

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

AlphaFold

O55189

Predicted Effect

probably benign
Transcript: ENSMUST00000031226

SMART Domains

Protein: ENSMUSP00000031226
Gene: ENSMUSG00000029288

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

Predicted Effect

probably benign
Transcript: ENSMUST00000198265

SMART Domains

Protein: ENSMUSP00000142944
Gene: ENSMUSG00000029288

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% (80/82)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,538,872 (GRCm38)	L143M	possibly damaging	Het
Abca13	T	C	11: 9,309,013 (GRCm38)		probably benign	Het
Abcg5	T	A	17: 84,671,147 (GRCm38)	E294D	probably benign	Het
Adgrg6	T	C	10: 14,467,186 (GRCm38)	D339G	probably damaging	Het
Ahctf1	C	A	1: 179,769,452 (GRCm38)	R43L	probably damaging	Het
Arap3	A	C	18: 37,973,350 (GRCm38)	L1480R	probably damaging	Het
Arhgef10	A	G	8: 14,934,820 (GRCm38)	D200G	probably damaging	Het
Aspg	G	A	12: 112,121,174 (GRCm38)	V8I	probably benign	Het
Aven	T	A	2: 112,625,196 (GRCm38)	W26R	probably damaging	Het
Car4	T	A	11: 84,964,085 (GRCm38)		probably benign	Het
Cd163	C	T	6: 124,318,856 (GRCm38)	R720C	probably damaging	Het
Cdh1	A	G	8: 106,664,210 (GRCm38)	I653V	probably benign	Het
Cdh3	A	T	8: 106,552,888 (GRCm38)	H712L	probably damaging	Het
Cdr2	T	C	7: 120,982,027 (GRCm38)	E9G	probably damaging	Het
Chrnb2	T	C	3: 89,769,341 (GRCm38)		probably benign	Het
Col4a2	C	A	8: 11,416,070 (GRCm38)	P443Q	probably damaging	Het
Cyp2a12	A	G	7: 27,036,646 (GRCm38)	*493W	probably null	Het
Ddias	T	C	7: 92,858,256 (GRCm38)	Q817R	probably benign	Het
Ddx6	C	T	9: 44,624,519 (GRCm38)	Q182*	probably null	Het
Dhrs7	A	G	12: 72,653,177 (GRCm38)	I227T	probably damaging	Het
Dhx8	A	T	11: 101,762,245 (GRCm38)	M970L	probably damaging	Het
Dnah7a	A	T	1: 53,496,942 (GRCm38)	D2647E	possibly damaging	Het
Dstyk	G	A	1: 132,453,119 (GRCm38)	G451R	possibly damaging	Het
Ednrb	T	A	14: 103,821,768 (GRCm38)	D274V	probably benign	Het
Efl1	C	T	7: 82,692,913 (GRCm38)	R510C	probably damaging	Het
Eif4g3	A	G	4: 138,184,742 (GRCm38)	E1409G	probably damaging	Het
Fam78b	G	A	1: 167,078,709 (GRCm38)	V146M	probably damaging	Het
Fcgbp	T	C	7: 28,092,019 (GRCm38)	Y902H	probably benign	Het
Fgf18	A	C	11: 33,118,003 (GRCm38)	F129C	probably damaging	Het
Gbp9	T	A	5: 105,094,543 (GRCm38)	D110V	probably damaging	Het
Gm10477	A	G	X: 56,524,832 (GRCm38)	K31E	probably damaging	Het
Gm10542	T	A	18: 44,201,288 (GRCm38)	W9R	probably null	Het
Gm7173	T	C	X: 79,510,321 (GRCm38)	I267V	probably benign	Het
Gpaa1	A	G	15: 76,333,352 (GRCm38)	Y330C	probably damaging	Het
Hectd4	T	C	5: 121,318,639 (GRCm38)	L689P	probably damaging	Het
Hoxd3	C	A	2: 74,744,234 (GRCm38)	P75T	possibly damaging	Het
Ikbkb	A	G	8: 22,666,020 (GRCm38)	L570P	probably damaging	Het
Ikbkb	T	C	8: 22,667,217 (GRCm38)		probably benign	Het
Il1rap	A	T	16: 26,710,565 (GRCm38)	H379L	probably damaging	Het
Ints6l	T	A	X: 56,504,868 (GRCm38)	S718T	probably benign	Het
Jaml	T	A	9: 45,101,064 (GRCm38)	I283N	probably damaging	Het
Kidins220	G	A	12: 25,041,303 (GRCm38)		probably null	Het
Kif1b	T	C	4: 149,222,296 (GRCm38)	D869G	probably benign	Het
Loxl2	T	C	14: 69,692,410 (GRCm38)	Y746H	probably benign	Het
Ltbr	A	G	6: 125,309,477 (GRCm38)	S249P	probably benign	Het
Mageb5	A	G	X: 91,780,095 (GRCm38)	I226T	probably damaging	Het
Msantd2	C	T	9: 37,522,931 (GRCm38)	R357W	probably damaging	Het
Neb	A	G	2: 52,264,064 (GRCm38)	F2345S	probably damaging	Het
Olfr866	T	G	9: 20,027,501 (GRCm38)	I146L	probably benign	Het
Pabpc4l	T	C	3: 46,446,841 (GRCm38)	T123A	probably benign	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 105,376,452 (GRCm38)		probably benign	Het
Prkdc	T	C	16: 15,719,433 (GRCm38)	V1716A	probably benign	Het
Prss37	G	A	6: 40,515,360 (GRCm38)	R186*	probably null	Het
Psg20	T	A	7: 18,681,022 (GRCm38)	Y316F	probably benign	Het
Rasgrp2	T	A	19: 6,404,395 (GRCm38)	M156K	probably benign	Het
Rims1	T	A	1: 22,404,508 (GRCm38)	R200*	probably null	Het
Rnf168	T	G	16: 32,278,218 (GRCm38)	L37R	probably damaging	Het
Sall3	C	T	18: 80,971,797 (GRCm38)	G972D	probably benign	Het
Sap18	T	A	14: 57,798,554 (GRCm38)	S66T	probably damaging	Het
Scamp5	C	A	9: 57,447,225 (GRCm38)	V49F	possibly damaging	Het
Sdk1	C	A	5: 142,185,188 (GRCm38)	D1935E	possibly damaging	Het
Setd2	A	G	9: 110,549,864 (GRCm38)	S632G	probably benign	Het
Soga1	T	C	2: 157,033,325 (GRCm38)	E835G	probably damaging	Het
Syt16	T	A	12: 74,238,235 (GRCm38)	S401T	probably damaging	Het
Tas2r106	A	T	6: 131,678,354 (GRCm38)	L178H	probably damaging	Het
Tbcd	A	G	11: 121,603,320 (GRCm38)	Y983C	probably damaging	Het
Tenm3	A	G	8: 48,417,006 (GRCm38)		probably null	Het
Tll1	T	C	8: 64,085,557 (GRCm38)	E351G	probably benign	Het
Tmem44	T	A	16: 30,547,444 (GRCm38)	K55*	probably null	Het
Top2a	T	C	11: 99,004,228 (GRCm38)	I849V	probably benign	Het
Ttn	A	G	2: 76,794,448 (GRCm38)	V13516A	probably damaging	Het
Uxs1	A	G	1: 43,774,846 (GRCm38)	L77P	probably damaging	Het
Vmn2r121	A	T	X: 124,133,742 (GRCm38)		probably null	Het
Vmn2r84	A	C	10: 130,391,231 (GRCm38)	M246R	probably damaging	Het
Vps13b	T	A	15: 35,646,080 (GRCm38)	N1443K	probably benign	Het
Wfdc6b	C	T	2: 164,617,443 (GRCm38)	R142C	probably benign	Het
Zfp616	A	G	11: 74,083,043 (GRCm38)		probably null	Het
Zmym1	T	C	4: 127,049,570 (GRCm38)	T244A	probably benign	Het

Other mutations in Ambn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Ambn	APN	5	88,459,359 (GRCm38)	missense	probably damaging	0.99
IGL01139:Ambn	APN	5	88,464,517 (GRCm38)	splice site	probably benign
IGL01318:Ambn	APN	5	88,460,695 (GRCm38)	splice site	probably benign
IGL02139:Ambn	APN	5	88,465,290 (GRCm38)	missense	probably benign
IGL02261:Ambn	APN	5	88,456,948 (GRCm38)	missense	probably damaging	1.00
IGL02743:Ambn	APN	5	88,464,484 (GRCm38)	missense	probably damaging	0.99
IGL03329:Ambn	APN	5	88,461,668 (GRCm38)	missense	probably benign	0.34
R0242:Ambn	UTSW	5	88,467,972 (GRCm38)	missense	possibly damaging	0.85
R0242:Ambn	UTSW	5	88,467,972 (GRCm38)	missense	possibly damaging	0.85
R0563:Ambn	UTSW	5	88,463,450 (GRCm38)	missense	probably benign	0.28
R1649:Ambn	UTSW	5	88,464,481 (GRCm38)	missense	probably benign	0.16
R2118:Ambn	UTSW	5	88,460,758 (GRCm38)	splice site	probably benign
R2121:Ambn	UTSW	5	88,460,758 (GRCm38)	splice site	probably benign
R2495:Ambn	UTSW	5	88,467,804 (GRCm38)	missense	probably benign	0.05
R2877:Ambn	UTSW	5	88,460,700 (GRCm38)	splice site	probably benign
R3779:Ambn	UTSW	5	88,465,342 (GRCm38)	splice site	probably benign
R4760:Ambn	UTSW	5	88,467,707 (GRCm38)	missense	probably damaging	1.00
R5422:Ambn	UTSW	5	88,464,511 (GRCm38)	critical splice donor site	probably null
R5755:Ambn	UTSW	5	88,464,491 (GRCm38)	splice site	probably null
R5883:Ambn	UTSW	5	88,467,829 (GRCm38)	nonsense	probably null
R5970:Ambn	UTSW	5	88,467,951 (GRCm38)	missense	possibly damaging	0.88
R6846:Ambn	UTSW	5	88,461,715 (GRCm38)	missense	possibly damaging	0.65
R7166:Ambn	UTSW	5	88,467,528 (GRCm38)	missense	possibly damaging	0.94
R7500:Ambn	UTSW	5	88,461,634 (GRCm38)	missense	possibly damaging	0.95
R7809:Ambn	UTSW	5	88,467,824 (GRCm38)	missense	probably benign	0.00
R8306:Ambn	UTSW	5	88,459,422 (GRCm38)	missense	possibly damaging	0.95
R8898:Ambn	UTSW	5	88,465,192 (GRCm38)	critical splice donor site	probably null
R9481:Ambn	UTSW	5	88,465,191 (GRCm38)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCAGACTGAACATGGCAAAGC -3'
(R):5'- TGCATTCTCTGTGCATCAGC -3'

Sequencing Primer
(F):5'- CTGAACATGGCAAAGCTACATTTTAC -3'
(R):5'- ATTAACTGTGTAGCCCAGGC -3'

Posted On

2014-09-17