Mutagenetix > Incidental Mutation

Incidental Mutation 'R3616:Enam'

473025

Institutional Source

Beutler Lab

Gene Symbol

Enam

Ensembl Gene

ENSMUSG00000029286

Gene Name

enamelin

Synonyms

abte

MMRRC Submission

040673-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.346) question?

Stock #

R3616 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88487975-88506049 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88504447 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 1197 (N1197Y)

Ref Sequence

ENSEMBL: ENSMUSP00000031222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031222] [ENSMUST00000199104]

AlphaFold

O55196

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031222
AA Change: N1197Y

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031222
Gene: ENSMUSG00000029286
AA Change: N1197Y

Domain	Start	End	E-Value	Type
low complexity region	25	38	N/A	INTRINSIC
low complexity region	67	114	N/A	INTRINSIC
low complexity region	128	150	N/A	INTRINSIC
low complexity region	159	167	N/A	INTRINSIC
low complexity region	173	187	N/A	INTRINSIC
low complexity region	203	214	N/A	INTRINSIC
Pfam:Enamelin	216	441	5.4e-74	PFAM
Pfam:Enamelin	503	1249	1.9e-303	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199104
AA Change: N1272Y

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000142854
Gene: ENSMUSG00000029286
AA Change: N1272Y

Domain	Start	End	E-Value	Type
low complexity region	100	113	N/A	INTRINSIC
low complexity region	142	189	N/A	INTRINSIC
low complexity region	203	225	N/A	INTRINSIC
low complexity region	234	242	N/A	INTRINSIC
low complexity region	248	262	N/A	INTRINSIC
low complexity region	278	289	N/A	INTRINSIC
Pfam:Enamelin	291	510	2.5e-74	PFAM
Pfam:Enamelin	550	1325	N/A	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (29/29)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene encodes the largest protein in the enamel matrix of developing teeth. The protein is involved in the mineralization and structural organization of enamel. Defects in this gene result in amelogenesis imperfect type 1C.[provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous null mice lack true enamel due to loss of mineralization at the secretory surface of ameloblasts and mandibular incisors are opaque with a rough surface and abnormal wear on the incisal edge. ENU-induced mutant mice provide models for various clinical subtypes of amelogenesis imperfecta. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,971,864	N399S	probably benign	Het
A2ml1	T	C	6: 128,558,294	T818A	probably benign	Het
Aasdh	A	G	5: 76,888,782	V304A	probably benign	Het
Angptl3	G	A	4: 99,034,465	A248T	probably benign	Het
Ap2b1	T	A	11: 83,324,565	C112S	possibly damaging	Het
Aqr	A	T	2: 114,136,887	I549N	probably damaging	Het
Barhl1	C	T	2: 28,911,550	D161N	possibly damaging	Het
Col28a1	A	G	6: 8,014,942	V821A	probably damaging	Het
Dclk2	G	A	3: 86,920,035	P46S	probably damaging	Het
Dnah1	A	G	14: 31,315,148	L247P	possibly damaging	Het
Dpysl2	T	A	14: 66,834,370	H107L	probably damaging	Het
Dzip3	A	G	16: 48,937,063	L869S	probably damaging	Het
Efs	T	C	14: 54,920,095	Y160C	probably damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fam184b	A	G	5: 45,582,815	V343A	possibly damaging	Het
Fbxw26	A	T	9: 109,743,760	Y105*	probably null	Het
Fiz1	A	G	7: 5,008,172	L449P	probably benign	Het
Foxi2	T	A	7: 135,410,451	C23S	possibly damaging	Het
Gdf2	G	A	14: 33,944,957	R212Q	probably damaging	Het
Gm5105	C	A	3: 138,049,688	A46S	unknown	Het
Gm597	T	C	1: 28,776,575	D792G	probably benign	Het
Grik5	C	T	7: 25,022,571	A581T	probably benign	Het
Gse1	C	G	8: 120,572,742		probably benign	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Kif1b	A	T	4: 149,262,283		probably benign	Het
Krt25	A	C	11: 99,317,298	V368G	possibly damaging	Het
Lacc1	A	G	14: 77,033,287	V269A	probably benign	Het
Lamc1	T	C	1: 153,251,150	K417E	probably damaging	Het
Miip	A	G	4: 147,865,914	M75T	probably benign	Het
Nlrp10	A	G	7: 108,924,476	F599S	probably benign	Het
Nlrp12	T	A	7: 3,240,575	M436L	probably benign	Het
Olfr142	T	C	2: 90,252,409	E193G	possibly damaging	Het
Pafah1b1	G	A	11: 74,690,232	S57F	probably damaging	Het
Pard6b	T	C	2: 168,087,339		probably benign	Het
Pla2g2e	G	A	4: 138,880,374	V22I	probably benign	Het
Plekhd1	A	G	12: 80,717,270	E202G	probably damaging	Het
Prss21	A	G	17: 23,872,831	T258A	probably benign	Het
Prss34	A	G	17: 25,298,846	E65G	probably benign	Het
Psap	A	G	10: 60,294,603	N149S	probably benign	Het
Ptprf	C	T	4: 118,237,883	A275T	probably benign	Het
Sem1	A	G	6: 6,578,520	L12P	probably damaging	Het
Sf3b3	A	G	8: 110,844,523	Y4H	probably damaging	Het
Sh3bp4	G	T	1: 89,137,705	R7L	probably damaging	Het
Slc16a1	T	A	3: 104,653,570	L397Q	probably damaging	Het
Smg5	A	G	3: 88,336,451	S10G	possibly damaging	Het
Smr2	AT	ATT	5: 88,108,824		probably null	Het
Tas2r102	C	T	6: 132,762,818	Q230*	probably null	Het
Tdo2	A	G	3: 81,975,428	Y13H	possibly damaging	Het
Tmem231	C	T	8: 111,918,313	R187H	possibly damaging	Het
Tmem30b	A	G	12: 73,545,579	M254T	probably damaging	Het
Trpm1	G	A	7: 64,243,570	G1057R	probably damaging	Het
Tusc3	A	T	8: 39,164,838	K347N	probably damaging	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Vash2	T	C	1: 190,970,419	Y117C	probably damaging	Het
Vrk2	A	G	11: 26,489,866	I235T	possibly damaging	Het
Wdr20	A	G	12: 110,793,939	T420A	probably benign	Het

Other mutations in Enam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:Enam	APN	5	88501484	missense	possibly damaging	0.83
IGL01611:Enam	APN	5	88503749	missense	probably damaging	0.99
IGL01802:Enam	APN	5	88503674	missense	possibly damaging	0.93
IGL02220:Enam	APN	5	88504559	nonsense	probably null
IGL02371:Enam	APN	5	88502809	missense	probably benign	0.39
IGL02596:Enam	APN	5	88503026	missense	probably benign	0.01
IGL03026:Enam	APN	5	88503299	missense	probably benign	0.38
IGL03303:Enam	APN	5	88504591	missense	probably benign	0.12
opinionated	UTSW	5	88503026	missense	probably benign	0.04
recalcitrant	UTSW	5	88503791	nonsense	probably null
R0200:Enam	UTSW	5	88493027	missense	possibly damaging	0.96
R0230:Enam	UTSW	5	88489655	splice site	probably benign
R0395:Enam	UTSW	5	88501508	missense	probably damaging	0.99
R0548:Enam	UTSW	5	88503105	missense	probably damaging	0.96
R0608:Enam	UTSW	5	88493027	missense	possibly damaging	0.96
R0724:Enam	UTSW	5	88501994	missense	probably damaging	1.00
R0927:Enam	UTSW	5	88494060	missense	possibly damaging	0.72
R1023:Enam	UTSW	5	88501967	missense	probably damaging	0.99
R1053:Enam	UTSW	5	88504019	missense	possibly damaging	0.64
R1169:Enam	UTSW	5	88503258	missense	probably damaging	1.00
R1230:Enam	UTSW	5	88494068	missense	probably damaging	0.99
R1324:Enam	UTSW	5	88494068	missense	possibly damaging	0.53
R1663:Enam	UTSW	5	88503994	missense	probably damaging	1.00
R1727:Enam	UTSW	5	88503994	missense	probably damaging	1.00
R1750:Enam	UTSW	5	88503227	missense	probably damaging	1.00
R1852:Enam	UTSW	5	88504465	missense	possibly damaging	0.92
R1907:Enam	UTSW	5	88504622	missense	possibly damaging	0.86
R2104:Enam	UTSW	5	88501787	missense	probably damaging	1.00
R2143:Enam	UTSW	5	88492920	missense	probably benign	0.02
R2196:Enam	UTSW	5	88502744	missense	probably damaging	0.99
R2363:Enam	UTSW	5	88503149	missense	probably benign	0.24
R2497:Enam	UTSW	5	88502694	missense	probably benign	0.13
R3615:Enam	UTSW	5	88504447	missense	possibly damaging	0.81
R3782:Enam	UTSW	5	88502815	missense	probably damaging	1.00
R4067:Enam	UTSW	5	88503377	missense	probably damaging	1.00
R4349:Enam	UTSW	5	88503548	missense	probably damaging	0.99
R4604:Enam	UTSW	5	88504283	missense	possibly damaging	0.93
R4649:Enam	UTSW	5	88492968	missense	probably benign	0.02
R4702:Enam	UTSW	5	88503791	nonsense	probably null
R4703:Enam	UTSW	5	88503791	nonsense	probably null
R4704:Enam	UTSW	5	88503791	nonsense	probably null
R4705:Enam	UTSW	5	88503791	nonsense	probably null
R4714:Enam	UTSW	5	88503536	missense	probably damaging	1.00
R4748:Enam	UTSW	5	88501543	missense	probably damaging	1.00
R4838:Enam	UTSW	5	88493108	nonsense	probably null
R4840:Enam	UTSW	5	88503026	missense	probably benign	0.04
R4856:Enam	UTSW	5	88488734	nonsense	probably null
R4886:Enam	UTSW	5	88488734	nonsense	probably null
R4910:Enam	UTSW	5	88502314	missense	probably benign
R4911:Enam	UTSW	5	88502314	missense	probably benign
R6103:Enam	UTSW	5	88502328	missense	probably damaging	0.96
R6651:Enam	UTSW	5	88502917	missense	probably damaging	0.98
R6759:Enam	UTSW	5	88501691	missense	probably damaging	1.00
R7282:Enam	UTSW	5	88502327	missense	probably damaging	0.99
R7365:Enam	UTSW	5	88501488	missense	possibly damaging	0.75
R7392:Enam	UTSW	5	88501664	missense	probably damaging	0.99
R7483:Enam	UTSW	5	88501820	missense	probably damaging	1.00
R7647:Enam	UTSW	5	88503025	missense	probably benign	0.00
R7648:Enam	UTSW	5	88504157	missense	possibly damaging	0.89
R7672:Enam	UTSW	5	88503971	missense	possibly damaging	0.80
R7943:Enam	UTSW	5	88488551	splice site	probably null
R7999:Enam	UTSW	5	88503702	missense	probably benign
R8117:Enam	UTSW	5	88503526	missense	probably benign	0.00
R8419:Enam	UTSW	5	88503350	missense	possibly damaging	0.80
R8528:Enam	UTSW	5	88502219	missense	probably damaging	0.98
R8836:Enam	UTSW	5	88491265	critical splice donor site	probably null
R8973:Enam	UTSW	5	88494088	missense	possibly damaging	0.96
R9001:Enam	UTSW	5	88489529	missense	probably benign	0.11
R9033:Enam	UTSW	5	88498616	missense	probably benign	0.01
R9268:Enam	UTSW	5	88492919	missense	probably benign	0.01
R9723:Enam	UTSW	5	88504382	missense	probably damaging	1.00
X0018:Enam	UTSW	5	88502691	nonsense	probably null
Z1176:Enam	UTSW	5	88492971	missense	probably damaging	0.99

Predicted Primers

Posted On

2017-04-14