Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02220:Enam'

285085

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Enam

Ensembl Gene

ENSMUSG00000029286

Gene Name

enamelin

Synonyms

abte

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.337) question?

Stock #

IGL02220

Quality Score

Status

Chromosome

Chromosomal Location

88635834-88653908 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 88652418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 1309 (L1309*)

Ref Sequence

ENSEMBL: ENSMUSP00000142854 (fasta)

Gene Model

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

AlphaFold

O55196

Predicted Effect

probably null
Transcript: ENSMUST00000031222
AA Change: L1234*

SMART Domains

Protein: ENSMUSP00000031222
Gene: ENSMUSG00000029286
AA Change: L1234*

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 null
Transcript: ENSMUST00000199104
AA Change: L1309*

SMART Domains

Protein: ENSMUSP00000142854
Gene: ENSMUSG00000029286
AA Change: L1309*

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

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,310,395 (GRCm39)	D460G	probably damaging	Het
Ankrd9	T	C	12: 110,943,933 (GRCm39)	M1V	probably null	Het
Anks1	T	C	17: 28,273,681 (GRCm39)	I977T	probably damaging	Het
Bcar1	T	C	8: 112,437,839 (GRCm39)	D767G	possibly damaging	Het
Bcl6	A	T	16: 23,793,641 (GRCm39)	I102N	probably damaging	Het
Cacna2d2	G	A	9: 107,392,078 (GRCm39)	G473D	probably damaging	Het
Cdh23	G	T	10: 60,140,903 (GRCm39)	H3148Q	probably damaging	Het
Col6a4	A	G	9: 105,940,141 (GRCm39)	V1263A	possibly damaging	Het
Crtc2	T	C	3: 90,166,455 (GRCm39)		probably benign	Het
D130043K22Rik	G	A	13: 25,067,738 (GRCm39)	G825S	possibly damaging	Het
Dera	T	A	6: 137,757,815 (GRCm39)		probably null	Het
Dnah17	G	T	11: 117,963,793 (GRCm39)	Y2506*	probably null	Het
Fbxo15	G	A	18: 84,982,317 (GRCm39)		probably null	Het
Fgfbp1	T	C	5: 44,136,828 (GRCm39)	K155E	probably damaging	Het
Foxj2	C	T	6: 122,815,540 (GRCm39)		probably benign	Het
Fuca1	A	G	4: 135,666,530 (GRCm39)		probably benign	Het
Gad1-ps	T	A	10: 99,281,184 (GRCm39)		noncoding transcript	Het
H2-Eb2	C	T	17: 34,544,661 (GRCm39)		probably benign	Het
Insr	A	T	8: 3,209,578 (GRCm39)	F1168L	probably damaging	Het
Isx	T	A	8: 75,619,333 (GRCm39)	V175E	possibly damaging	Het
Kansl3	T	C	1: 36,407,070 (GRCm39)		probably benign	Het
Lin9	T	C	1: 180,494,932 (GRCm39)	I218T	probably damaging	Het
Llgl2	C	A	11: 115,736,205 (GRCm39)	A126D	possibly damaging	Het
Ltbp2	T	C	12: 84,876,083 (GRCm39)	E488G	possibly damaging	Het
Maml3	A	G	3: 51,597,639 (GRCm39)	V369A	possibly damaging	Het
Mthfsl	A	G	9: 88,597,708 (GRCm39)	I14T	probably damaging	Het
Myo3b	A	G	2: 70,119,923 (GRCm39)		probably benign	Het
Nfkbil1	T	C	17: 35,439,722 (GRCm39)	R264G	possibly damaging	Het
Or4c3d	A	G	2: 89,882,038 (GRCm39)	L210P	probably damaging	Het
Pde5a	G	T	3: 122,542,031 (GRCm39)	A174S	probably benign	Het
Plch1	A	T	3: 63,606,382 (GRCm39)	I1173N	probably damaging	Het
Ppfia1	C	A	7: 144,035,512 (GRCm39)	R1171L	probably damaging	Het
Prom1	T	C	5: 44,172,131 (GRCm39)	D595G	probably damaging	Het
Ptprz1	T	C	6: 23,042,742 (GRCm39)		probably benign	Het
Samsn1	A	G	16: 75,680,763 (GRCm39)		probably null	Het
Sbno2	T	A	10: 79,908,202 (GRCm39)	T66S	probably benign	Het
Serpina1c	T	A	12: 103,862,338 (GRCm39)	I326F	probably damaging	Het
Slc12a1	T	C	2: 125,030,190 (GRCm39)		probably null	Het
Slc18a2	A	G	19: 59,264,988 (GRCm39)	E324G	probably benign	Het
Slc40a1	A	T	1: 45,950,495 (GRCm39)	M319K	probably damaging	Het
Slc44a5	T	C	3: 153,956,608 (GRCm39)	Y287H	possibly damaging	Het
Stx4a	A	G	7: 127,441,672 (GRCm39)	E63G	possibly damaging	Het
Sv2a	T	C	3: 96,098,032 (GRCm39)	F545S	probably benign	Het
Svop	T	C	5: 114,203,589 (GRCm39)	D65G	probably benign	Het
Tex30	A	T	1: 44,126,182 (GRCm39)	S182R	probably benign	Het
Tmem121b	T	C	6: 120,469,298 (GRCm39)	D473G	probably damaging	Het
Tnfrsf19	C	A	14: 61,210,941 (GRCm39)		probably benign	Het
Tnrc6a	T	C	7: 122,769,679 (GRCm39)	S490P	probably benign	Het
Ubr4	A	G	4: 139,115,746 (GRCm39)	T82A	probably benign	Het
Vps16	A	G	2: 130,283,573 (GRCm39)	D589G	possibly damaging	Het
Zscan29	A	C	2: 120,997,170 (GRCm39)	S184A	probably damaging	Het

Other mutations in Enam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:Enam	APN	5	88,649,343 (GRCm39)	missense	possibly damaging	0.83
IGL01611:Enam	APN	5	88,651,608 (GRCm39)	missense	probably damaging	0.99
IGL01802:Enam	APN	5	88,651,533 (GRCm39)	missense	possibly damaging	0.93
IGL02371:Enam	APN	5	88,650,668 (GRCm39)	missense	probably benign	0.39
IGL02596:Enam	APN	5	88,650,885 (GRCm39)	missense	probably benign	0.01
IGL03026:Enam	APN	5	88,651,158 (GRCm39)	missense	probably benign	0.38
IGL03303:Enam	APN	5	88,652,450 (GRCm39)	missense	probably benign	0.12
opinionated	UTSW	5	88,650,885 (GRCm39)	missense	probably benign	0.04
recalcitrant	UTSW	5	88,651,650 (GRCm39)	nonsense	probably null
R0200:Enam	UTSW	5	88,640,886 (GRCm39)	missense	possibly damaging	0.96
R0230:Enam	UTSW	5	88,637,514 (GRCm39)	splice site	probably benign
R0395:Enam	UTSW	5	88,649,367 (GRCm39)	missense	probably damaging	0.99
R0548:Enam	UTSW	5	88,650,964 (GRCm39)	missense	probably damaging	0.96
R0608:Enam	UTSW	5	88,640,886 (GRCm39)	missense	possibly damaging	0.96
R0724:Enam	UTSW	5	88,649,853 (GRCm39)	missense	probably damaging	1.00
R0927:Enam	UTSW	5	88,641,919 (GRCm39)	missense	possibly damaging	0.72
R1023:Enam	UTSW	5	88,649,826 (GRCm39)	missense	probably damaging	0.99
R1053:Enam	UTSW	5	88,651,878 (GRCm39)	missense	possibly damaging	0.64
R1169:Enam	UTSW	5	88,651,117 (GRCm39)	missense	probably damaging	1.00
R1230:Enam	UTSW	5	88,641,927 (GRCm39)	missense	probably damaging	0.99
R1324:Enam	UTSW	5	88,641,927 (GRCm39)	missense	possibly damaging	0.53
R1663:Enam	UTSW	5	88,651,853 (GRCm39)	missense	probably damaging	1.00
R1727:Enam	UTSW	5	88,651,853 (GRCm39)	missense	probably damaging	1.00
R1750:Enam	UTSW	5	88,651,086 (GRCm39)	missense	probably damaging	1.00
R1852:Enam	UTSW	5	88,652,324 (GRCm39)	missense	possibly damaging	0.92
R1907:Enam	UTSW	5	88,652,481 (GRCm39)	missense	possibly damaging	0.86
R2104:Enam	UTSW	5	88,649,646 (GRCm39)	missense	probably damaging	1.00
R2143:Enam	UTSW	5	88,640,779 (GRCm39)	missense	probably benign	0.02
R2196:Enam	UTSW	5	88,650,603 (GRCm39)	missense	probably damaging	0.99
R2363:Enam	UTSW	5	88,651,008 (GRCm39)	missense	probably benign	0.24
R2497:Enam	UTSW	5	88,650,553 (GRCm39)	missense	probably benign	0.13
R3615:Enam	UTSW	5	88,652,306 (GRCm39)	missense	possibly damaging	0.81
R3616:Enam	UTSW	5	88,652,306 (GRCm39)	missense	possibly damaging	0.81
R3782:Enam	UTSW	5	88,650,674 (GRCm39)	missense	probably damaging	1.00
R4067:Enam	UTSW	5	88,651,236 (GRCm39)	missense	probably damaging	1.00
R4349:Enam	UTSW	5	88,651,407 (GRCm39)	missense	probably damaging	0.99
R4604:Enam	UTSW	5	88,652,142 (GRCm39)	missense	possibly damaging	0.93
R4649:Enam	UTSW	5	88,640,827 (GRCm39)	missense	probably benign	0.02
R4702:Enam	UTSW	5	88,651,650 (GRCm39)	nonsense	probably null
R4703:Enam	UTSW	5	88,651,650 (GRCm39)	nonsense	probably null
R4704:Enam	UTSW	5	88,651,650 (GRCm39)	nonsense	probably null
R4705:Enam	UTSW	5	88,651,650 (GRCm39)	nonsense	probably null
R4714:Enam	UTSW	5	88,651,395 (GRCm39)	missense	probably damaging	1.00
R4748:Enam	UTSW	5	88,649,402 (GRCm39)	missense	probably damaging	1.00
R4838:Enam	UTSW	5	88,640,967 (GRCm39)	nonsense	probably null
R4840:Enam	UTSW	5	88,650,885 (GRCm39)	missense	probably benign	0.04
R4856:Enam	UTSW	5	88,636,593 (GRCm39)	nonsense	probably null
R4886:Enam	UTSW	5	88,636,593 (GRCm39)	nonsense	probably null
R4910:Enam	UTSW	5	88,650,173 (GRCm39)	missense	probably benign
R4911:Enam	UTSW	5	88,650,173 (GRCm39)	missense	probably benign
R6103:Enam	UTSW	5	88,650,187 (GRCm39)	missense	probably damaging	0.96
R6651:Enam	UTSW	5	88,650,776 (GRCm39)	missense	probably damaging	0.98
R6759:Enam	UTSW	5	88,649,550 (GRCm39)	missense	probably damaging	1.00
R7282:Enam	UTSW	5	88,650,186 (GRCm39)	missense	probably damaging	0.99
R7365:Enam	UTSW	5	88,649,347 (GRCm39)	missense	possibly damaging	0.75
R7392:Enam	UTSW	5	88,649,523 (GRCm39)	missense	probably damaging	0.99
R7483:Enam	UTSW	5	88,649,679 (GRCm39)	missense	probably damaging	1.00
R7647:Enam	UTSW	5	88,650,884 (GRCm39)	missense	probably benign	0.00
R7648:Enam	UTSW	5	88,652,016 (GRCm39)	missense	possibly damaging	0.89
R7672:Enam	UTSW	5	88,651,830 (GRCm39)	missense	possibly damaging	0.80
R7943:Enam	UTSW	5	88,636,410 (GRCm39)	splice site	probably null
R7999:Enam	UTSW	5	88,651,561 (GRCm39)	missense	probably benign
R8117:Enam	UTSW	5	88,651,385 (GRCm39)	missense	probably benign	0.00
R8419:Enam	UTSW	5	88,651,209 (GRCm39)	missense	possibly damaging	0.80
R8528:Enam	UTSW	5	88,650,078 (GRCm39)	missense	probably damaging	0.98
R8836:Enam	UTSW	5	88,639,124 (GRCm39)	critical splice donor site	probably null
R8973:Enam	UTSW	5	88,641,947 (GRCm39)	missense	possibly damaging	0.96
R9001:Enam	UTSW	5	88,637,388 (GRCm39)	missense	probably benign	0.11
R9033:Enam	UTSW	5	88,646,475 (GRCm39)	missense	probably benign	0.01
R9268:Enam	UTSW	5	88,640,778 (GRCm39)	missense	probably benign	0.01
R9723:Enam	UTSW	5	88,652,241 (GRCm39)	missense	probably damaging	1.00
X0018:Enam	UTSW	5	88,650,550 (GRCm39)	nonsense	probably null
Z1176:Enam	UTSW	5	88,640,830 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16