Mutagenetix > Incidental Mutation

Incidental Mutation 'R2118:Ambn'

231180

Institutional Source

Beutler Lab

Gene Symbol

Ambn

Ensembl Gene

ENSMUSG00000029288

Gene Name

ameloblastin

Synonyms

MMRRC Submission

040122-MU

Accession Numbers

Essential gene?

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

Stock #

R2118 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88603850-88616390 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 88608617 bp (GRCm39)

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: 97.4%
20x: 95.6%

Validation Efficiency

100% (90/90)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	T	C	11: 83,331,190 (GRCm39)	S31P	possibly damaging	Het
4933430I17Rik	T	A	4: 62,457,109 (GRCm39)	L143M	possibly damaging	Het
Abca13	T	C	11: 9,259,013 (GRCm39)		probably benign	Het
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Abi3bp	T	C	16: 56,298,227 (GRCm39)		probably benign	Het
Adamts8	T	C	9: 30,854,359 (GRCm39)	F76S	probably damaging	Het
Agpat3	T	C	10: 78,113,918 (GRCm39)	R257G	probably damaging	Het
Ahctf1	C	A	1: 179,597,017 (GRCm39)	R43L	probably damaging	Het
AI593442	T	C	9: 52,588,993 (GRCm39)	T195A	probably benign	Het
Aipl1	A	T	11: 71,920,195 (GRCm39)	L291Q	possibly damaging	Het
Arap2	G	A	5: 62,864,028 (GRCm39)	T532I	probably damaging	Het
Arg1	T	C	10: 24,796,621 (GRCm39)	N69D	possibly damaging	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Arhgef38	T	C	3: 132,866,514 (GRCm39)	K208E	probably benign	Het
Asb4	A	T	6: 5,390,687 (GRCm39)	T27S	probably benign	Het
Ash1l	C	G	3: 88,892,602 (GRCm39)	Q1494E	possibly damaging	Het
Car12	T	C	9: 66,621,174 (GRCm39)	V15A	probably benign	Het
Cdc20b	A	G	13: 113,215,232 (GRCm39)	I267V	probably benign	Het
Cdh1	A	G	8: 107,390,842 (GRCm39)	I653V	probably benign	Het
Cenpe	T	A	3: 134,952,645 (GRCm39)	M1445K	possibly damaging	Het
Cfap43	T	C	19: 47,758,877 (GRCm39)	E932G	probably damaging	Het
Cfhr1	G	C	1: 139,478,642 (GRCm39)	Q243E	probably benign	Het
Cnih2	C	A	19: 5,148,276 (GRCm39)	A6S	possibly damaging	Het
Cntnap1	G	T	11: 101,079,483 (GRCm39)	M1240I	probably benign	Het
Cntrl	T	C	2: 35,051,977 (GRCm39)	S1050P	probably benign	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Dbx2	A	C	15: 95,522,681 (GRCm39)	L342R	probably damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dnajb2	T	C	1: 75,214,121 (GRCm39)	W30R	probably damaging	Het
Ecel1	A	G	1: 87,075,997 (GRCm39)	S727P	probably damaging	Het
Ednrb	T	A	14: 104,059,204 (GRCm39)	D274V	probably benign	Het
Fam78b	G	A	1: 166,906,278 (GRCm39)	V146M	probably damaging	Het
Fancd2	A	G	6: 113,537,035 (GRCm39)		probably benign	Het
Fbxw14	T	C	9: 109,103,692 (GRCm39)		probably benign	Het
Gimap4	G	T	6: 48,667,905 (GRCm39)	C92F	probably benign	Het
Gm10033	A	C	8: 69,824,942 (GRCm39)		noncoding transcript	Het
Gm5828	A	G	1: 16,840,199 (GRCm39)		noncoding transcript	Het
Gnpat	T	C	8: 125,603,680 (GRCm39)	V186A	probably damaging	Het
Gnptab	T	C	10: 88,272,260 (GRCm39)	S967P	probably benign	Het
Ikbkb	T	C	8: 23,157,233 (GRCm39)		probably benign	Het
Il1rap	A	T	16: 26,529,315 (GRCm39)	H379L	probably damaging	Het
Ints12	T	C	3: 132,814,921 (GRCm39)	V376A	probably damaging	Het
Kalrn	C	T	16: 34,152,600 (GRCm39)	S309N	possibly damaging	Het
Kel	T	A	6: 41,666,234 (GRCm39)	I471L	probably benign	Het
Klhl25	T	C	7: 75,516,480 (GRCm39)	V462A	probably damaging	Het
Ksr1	A	T	11: 78,936,019 (GRCm39)	M77K	probably benign	Het
Leo1	T	A	9: 75,353,094 (GRCm39)	N212K	probably damaging	Het
Ltbp1	T	A	17: 75,617,154 (GRCm39)	V1031E	possibly damaging	Het
Ltbr	A	G	6: 125,286,440 (GRCm39)	S249P	probably benign	Het
Mast4	A	G	13: 102,890,713 (GRCm39)	V855A	probably damaging	Het
Mdga2	T	A	12: 66,915,526 (GRCm39)	E43V	probably damaging	Het
Mmaa	A	T	8: 79,994,588 (GRCm39)	L406*	probably null	Het
Mtcl2	T	C	2: 156,875,245 (GRCm39)	E835G	probably damaging	Het
Nlrp12	A	T	7: 3,290,079 (GRCm39)	N144K	probably damaging	Het
Nlrp6	T	C	7: 140,506,357 (GRCm39)	V766A	probably benign	Het
Or4f61	C	A	2: 111,922,675 (GRCm39)	V124L	probably benign	Het
Or5h18	A	G	16: 58,848,178 (GRCm39)	F31L	possibly damaging	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Pappa2	T	C	1: 158,684,836 (GRCm39)	T768A	probably damaging	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Ppp1r13l	A	G	7: 19,105,346 (GRCm39)	M373V	possibly damaging	Het
Prss37	G	A	6: 40,492,294 (GRCm39)	R186*	probably null	Het
Psg16	C	A	7: 16,824,548 (GRCm39)	H111N	probably benign	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Psmd1	T	A	1: 86,006,422 (GRCm39)	S263T	possibly damaging	Het
Rai14	A	G	15: 10,575,252 (GRCm39)	F569L	probably benign	Het
Rbpms2	T	A	9: 65,558,229 (GRCm39)	D116E	probably damaging	Het
Rgs20	A	G	1: 4,987,113 (GRCm39)		probably benign	Het
Rnf114	T	C	2: 167,352,803 (GRCm39)	L101P	probably damaging	Het
Rnf168	T	G	16: 32,097,036 (GRCm39)	L37R	probably damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Slc2a13	A	G	15: 91,400,679 (GRCm39)	V181A	probably damaging	Het
Spag17	A	G	3: 99,956,556 (GRCm39)	E884G	possibly damaging	Het
Sycn	T	C	7: 28,240,713 (GRCm39)	S127P	probably damaging	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tas2r117	T	A	6: 132,780,129 (GRCm39)	I89K	probably damaging	Het
Tep1	C	A	14: 51,093,029 (GRCm39)		probably null	Het
Tex14	T	C	11: 87,410,569 (GRCm39)		probably benign	Het
Tll1	T	C	8: 64,538,591 (GRCm39)	E351G	probably benign	Het
Tmem44	T	A	16: 30,366,262 (GRCm39)	K55*	probably null	Het
Trak1	T	A	9: 121,302,063 (GRCm39)	*940R	probably null	Het
Vmn1r200	C	T	13: 22,579,353 (GRCm39)	T43I	probably damaging	Het
Wars2	T	C	3: 99,123,883 (GRCm39)	V248A	probably benign	Het
Wfdc6b	C	T	2: 164,459,363 (GRCm39)	R142C	probably benign	Het
Zfp729a	A	T	13: 67,769,613 (GRCm39)		probably null	Het
Zfp759	C	A	13: 67,287,578 (GRCm39)		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
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
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'- GACTGAACATGGCAAAGCTAC -3'
(R):5'- TGCATTCTCTGTGCATCAGC -3'

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

Posted On

2014-09-18