Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03026:Enam'

408167

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Enam

Ensembl Gene

ENSMUSG00000029286

Gene Name

enamelin

Synonyms

abte

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

IGL03026

Quality Score

Status

Chromosome

Chromosomal Location

88635834-88653908 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88651158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 889 (N889I)

Ref Sequence

ENSEMBL: ENSMUSP00000142854 (fasta)

Gene Model

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

AlphaFold

O55196

Predicted Effect

probably benign
Transcript: ENSMUST00000031222
AA Change: N814I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000031222
Gene: ENSMUSG00000029286
AA Change: N814I

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: N889I

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142854
Gene: ENSMUSG00000029286
AA Change: N889I

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,410,516 (GRCm39)	V154A	possibly damaging	Het
Adcy4	T	C	14: 56,015,467 (GRCm39)	Y481C	probably damaging	Het
Adcy5	T	C	16: 34,977,412 (GRCm39)	V315A	probably benign	Het
Atf7ip	G	A	6: 136,582,380 (GRCm39)	S1130N	possibly damaging	Het
Ctss	A	G	3: 95,446,141 (GRCm39)	D87G	probably benign	Het
Cwf19l2	A	T	9: 3,428,777 (GRCm39)	K254N	probably benign	Het
Dnajc10	A	G	2: 80,179,647 (GRCm39)	D727G	probably damaging	Het
Dsg3	G	A	18: 20,670,029 (GRCm39)		probably null	Het
Ehmt1	T	C	2: 24,742,746 (GRCm39)	M478V	probably benign	Het
Exo1	G	T	1: 175,736,003 (GRCm39)	*148L	probably null	Het
Fam133b	G	T	5: 3,609,646 (GRCm39)		probably benign	Het
Foxj2	G	A	6: 122,815,139 (GRCm39)	A392T	probably benign	Het
Gbp4	G	T	5: 105,267,866 (GRCm39)	A460E	possibly damaging	Het
H1f5	G	A	13: 21,964,117 (GRCm39)		probably benign	Het
Has3	A	T	8: 107,605,242 (GRCm39)	I483F	probably benign	Het
Irak2	T	A	6: 113,653,612 (GRCm39)	V260E	probably damaging	Het
Kcnj8	T	C	6: 142,512,199 (GRCm39)		probably null	Het
Lama5	A	G	2: 179,837,760 (GRCm39)	V936A	probably benign	Het
Lmo7	C	T	14: 102,166,769 (GRCm39)		probably benign	Het
Morc3	T	A	16: 93,659,612 (GRCm39)		probably benign	Het
Muc6	T	C	7: 141,226,414 (GRCm39)		probably benign	Het
Nkx2-2	T	C	2: 147,027,742 (GRCm39)	Y66C	probably damaging	Het
Oaz1	G	A	10: 80,664,634 (GRCm39)		probably benign	Het
Or2y1f	A	T	11: 49,184,285 (GRCm39)	I46F	probably damaging	Het
Or6c38	G	A	10: 128,929,057 (GRCm39)	A262V	possibly damaging	Het
Or6c65	A	T	10: 129,603,910 (GRCm39)	M182L	probably benign	Het
Pkd2	A	T	5: 104,642,753 (GRCm39)		probably benign	Het
Plcb4	A	G	2: 135,792,349 (GRCm39)		probably benign	Het
Ralgapa2	C	A	2: 146,302,695 (GRCm39)		probably benign	Het
Rfx7	T	C	9: 72,526,967 (GRCm39)	S1386P	probably damaging	Het
Ric1	T	G	19: 29,577,233 (GRCm39)	W1046G	probably benign	Het
Rrp12	C	A	19: 41,861,436 (GRCm39)	R957L	probably damaging	Het
Scn7a	T	C	2: 66,506,442 (GRCm39)	I1482M	probably damaging	Het
Sema3b	T	C	9: 107,479,262 (GRCm39)	N236S	probably damaging	Het
Skint6	T	A	4: 112,848,441 (GRCm39)		probably null	Het
Slfn5	T	C	11: 82,847,387 (GRCm39)	Y91H	probably benign	Het
Sptbn2	T	A	19: 4,774,261 (GRCm39)		probably null	Het
Szt2	A	G	4: 118,249,046 (GRCm39)	L546P	probably benign	Het
Tas1r3	A	G	4: 155,946,300 (GRCm39)		probably benign	Het
Trim75	A	G	8: 65,436,438 (GRCm39)	V4A	probably benign	Het
Usp19	T	C	9: 108,370,344 (GRCm39)	L56P	probably damaging	Het
Vmn1r181	T	G	7: 23,684,000 (GRCm39)	I155S	possibly damaging	Het
Vmn2r43	G	T	7: 8,258,096 (GRCm39)	D372E	probably benign	Het
Vstm2b	C	A	7: 40,551,945 (GRCm39)	S99*	probably null	Het
Wdr11	A	G	7: 129,226,060 (GRCm39)	D735G	probably damaging	Het
Wee2	T	A	6: 40,438,915 (GRCm39)	M346K	probably benign	Het
Zap70	A	G	1: 36,818,798 (GRCm39)	K371R	possibly damaging	Het
Zfp990	A	T	4: 145,263,680 (GRCm39)	H226L	possibly 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
IGL02220:Enam	APN	5	88,652,418 (GRCm39)	nonsense	probably null
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
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

2016-08-02