Mutagenetix > Incidental Mutations

Incidental Mutation 'R4748:Enam'

357278

Institutional Source

Beutler Lab

Gene Symbol

Enam

Ensembl Gene

ENSMUSG00000029286

Gene Name

enamelin

Synonyms

abte

MMRRC Submission

042030-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.443) question?

Stock #

R4748 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88487975-88506049 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 88501543 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 304 (P304T)

Ref Sequence

ENSEMBL: ENSMUSP00000142854 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000031222
AA Change: P229T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031222
Gene: ENSMUSG00000029286
AA Change: P229T

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 damaging
Transcript: ENSMUST00000199104
AA Change: P304T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142854
Gene: ENSMUSG00000029286
AA Change: P304T

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	T	A	1: 138,856,656	E54D	possibly damaging	Het
4933415F23Rik	T	C	1: 23,101,870	E121G	probably damaging	Het
Abcb6	C	A	1: 75,177,358	G367W	probably damaging	Het
Asprv1	A	G	6: 86,628,423	M84V	probably damaging	Het
Aspscr1	T	C	11: 120,701,507	V291A	probably damaging	Het
B4galnt4	T	C	7: 141,071,720	F980L	probably damaging	Het
Bpi	G	A	2: 158,272,021	V280I	possibly damaging	Het
Bptf	T	C	11: 107,095,880	D581G	probably damaging	Het
Cap2	T	A	13: 46,639,826	Y223N	possibly damaging	Het
Ccdc141	A	C	2: 77,057,980	I480M	possibly damaging	Het
Ccnh	T	A	13: 85,189,639	V35E	probably benign	Het
Cd6	G	T	19: 10,794,225	S433*	probably null	Het
Ceacam10	A	C	7: 24,781,052	I83L	probably benign	Het
Chek2	T	C	5: 110,855,839		probably null	Het
Chia1	A	T	3: 106,122,449	D73V	probably damaging	Het
Commd2	G	A	3: 57,646,794	T162I	probably benign	Het
Creb3l3	C	T	10: 81,086,047	A316T	probably benign	Het
Cul4a	A	G	8: 13,123,526	K1R	probably benign	Het
Cyp2c23	T	C	19: 44,016,737		probably null	Het
D630045J12Rik	T	C	6: 38,196,841	T131A	possibly damaging	Het
Dctn4	A	C	18: 60,550,236	K295N	probably damaging	Het
Dnah1	A	G	14: 31,319,945	V23A	probably benign	Het
Dync1i1	A	G	6: 5,767,048	K91E	possibly damaging	Het
Dzip1l	A	G	9: 99,642,651	D275G	probably damaging	Het
Enpep	A	G	3: 129,332,163	Y107H	probably damaging	Het
Exd2	T	C	12: 80,480,576	L27P	probably damaging	Het
Fam135b	T	A	15: 71,464,055	D430V	probably benign	Het
Fam222b	C	T	11: 78,154,603	T202I	possibly damaging	Het
Fmod	T	A	1: 134,041,174	N317K	probably damaging	Het
Frem2	A	G	3: 53,541,093	F2301L	probably damaging	Het
Frem3	T	C	8: 80,611,459	F127S	probably damaging	Het
Gbp7	A	G	3: 142,538,087	S132G	probably benign	Het
Gm4787	A	G	12: 81,378,056	C443R	probably damaging	Het
Grik2	T	C	10: 49,535,341	M5V	possibly damaging	Het
Helb	T	C	10: 120,084,849	D1063G	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Krt90	G	A	15: 101,555,333	L429F	probably damaging	Het
Lrr1	C	A	12: 69,174,462	T126K	probably benign	Het
Mgat4e	C	A	1: 134,542,028	D93Y	probably damaging	Het
Mllt3	A	T	4: 87,840,781	S343R	possibly damaging	Het
Mms19	T	A	19: 41,944,558	S1031C	probably damaging	Het
Mtrf1	C	T	14: 79,411,650	H237Y	probably damaging	Het
Nckap1l	T	A	15: 103,473,056	L408Q	probably damaging	Het
Oit3	A	T	10: 59,424,082	C500S	probably damaging	Het
Olfr1163	T	A	2: 88,070,612	I257L	probably benign	Het
Olfr1238	C	T	2: 89,406,255	V275I	probably benign	Het
Olfr273	A	G	4: 52,856,076	S146P	possibly damaging	Het
Olfr738	T	G	14: 50,413,876	L111V	possibly damaging	Het
Otud7a	T	C	7: 63,735,915	S376P	possibly damaging	Het
Pabpc2	A	T	18: 39,774,269	K196*	probably null	Het
Paqr8	T	A	1: 20,935,413	C264S	probably benign	Het
Pgm2	T	A	4: 99,981,979	F459Y	probably benign	Het
Phip	C	A	9: 82,908,869	V675L	probably benign	Het
Pnma1	T	G	12: 84,147,723	T69P	probably benign	Het
Ptpn12	A	T	5: 21,005,385	C242*	probably null	Het
Rabep1	T	A	11: 70,908,468	V306E	probably benign	Het
Ros1	C	T	10: 52,115,997	D1377N	probably benign	Het
Ryr3	T	C	2: 112,964,405	T121A	possibly damaging	Het
Scaf11	G	A	15: 96,420,421	Q421*	probably null	Het
Shcbp1	G	A	8: 4,744,512	T427M	probably damaging	Het
Shprh	G	A	10: 11,170,476	R979H	probably damaging	Het
Slc22a27	C	T	19: 7,925,876	C163Y	probably benign	Het
Slc27a1	A	G	8: 71,580,675	D287G	probably damaging	Het
Slc27a1	C	T	8: 71,580,809	T310M	possibly damaging	Het
Slc29a3	A	G	10: 60,716,326	V313A	probably benign	Het
Slc35f2	A	T	9: 53,771,785	M1L	probably benign	Het
Sltm	G	C	9: 70,581,365	R599T	probably damaging	Het
Spic	T	A	10: 88,675,890	Q168L	probably damaging	Het
Spink6	G	A	18: 44,082,361		probably null	Het
Stac2	T	C	11: 98,041,372	E235G	possibly damaging	Het
Szt2	G	A	4: 118,389,191	Q957*	probably null	Het
Them7	A	T	2: 105,378,646	T104S	possibly damaging	Het
Tmed4	T	A	11: 6,271,716	I207F	possibly damaging	Het
Tmem248	A	G	5: 130,236,890	E178G	probably benign	Het
Tomm40l	G	A	1: 171,219,562	R296*	probably null	Het
Trim80	C	A	11: 115,448,138	T598N	possibly damaging	Het
Trim9	T	C	12: 70,248,273	N688D	probably damaging	Het
Vil1	C	T	1: 74,421,266	A194V	probably damaging	Het
Vmn2r61	A	T	7: 42,267,141	M393L	probably damaging	Het
Vmn2r63	C	T	7: 42,928,120	M331I	probably benign	Het
Vps33b	G	T	7: 80,290,048	A516S	probably damaging	Het
Wisp1	C	A	15: 66,906,640	Y103*	probably null	Het
Zc3h6	G	A	2: 129,002,240	G235R	probably damaging	Het
Zfp612	T	A	8: 110,088,672	D170E	probably benign	Het
Zfp746	A	G	6: 48,064,556	I412T	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
R3616: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
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
R7999:Enam	UTSW	5	88503702	missense	probably benign
X0018:Enam	UTSW	5	88502691	nonsense	probably null
Z1176:Enam	UTSW	5	88492971	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTGTCATGGTATGAGAAGCCTG -3'
(R):5'- AGGGAAGACACCGTTTTGAAC -3'

Sequencing Primer
(F):5'- AAGCCTGTGGAGGAACTTTC -3'
(R):5'- AACTGTAGGATTGTTCCCAGC -3'

Posted On

2015-11-11