Incidental Mutation 'IGL03303:Enam'
ID416282
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Enam
Ensembl Gene ENSMUSG00000029286
Gene Nameenamelin
Synonymsabte
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.656) question?
Stock #IGL03303
Quality Score
Status
Chromosome5
Chromosomal Location88487975-88506049 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 88504591 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 1320 (V1320L)
Ref Sequence ENSEMBL: ENSMUSP00000142854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031222] [ENSMUST00000199104]
Predicted Effect probably benign
Transcript: ENSMUST00000031222
AA Change: V1245L

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000031222
Gene: ENSMUSG00000029286
AA Change: V1245L

DomainStartEndE-ValueType
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: V1320L

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000142854
Gene: ENSMUSG00000029286
AA Change: V1320L

DomainStartEndE-ValueType
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,870,077 E17G possibly damaging Het
A2m T A 6: 121,667,163 V940E probably damaging Het
Agap1 T A 1: 89,665,152 V307D probably damaging Het
Amd1 A G 10: 40,290,125 V286A possibly damaging Het
Chrne T C 11: 70,615,100 K453R possibly damaging Het
Ckm T A 7: 19,414,338 probably benign Het
Ckmt1 A G 2: 121,360,005 T138A probably benign Het
Cldn4 A G 5: 134,946,249 V166A possibly damaging Het
Dclre1a T C 19: 56,546,766 T129A possibly damaging Het
Dlgap2 T A 8: 14,727,812 D352E probably damaging Het
Dnmt1 A G 9: 20,926,710 I236T probably benign Het
Ezh1 A C 11: 101,195,671 probably null Het
F13b A T 1: 139,513,036 D410V possibly damaging Het
Fcrl6 A T 1: 172,597,688 Y259N probably damaging Het
Fpr-rs7 A T 17: 20,113,739 F163Y possibly damaging Het
Gpihbp1 C T 15: 75,597,978 Q181* probably null Het
Htr2b T C 1: 86,099,339 probably benign Het
Igkv1-35 A G 6: 70,011,651 I8T probably benign Het
Kcnq2 T C 2: 181,082,389 T584A probably benign Het
Khdrbs3 A G 15: 69,024,823 T111A probably benign Het
Krtap29-1 A T 11: 99,978,843 C71S probably benign Het
Lrrc4c A T 2: 97,629,592 I188F probably damaging Het
Med1 G T 11: 98,158,352 N539K probably damaging Het
Mga T A 2: 119,903,452 D260E probably damaging Het
Mnd1 A G 3: 84,104,937 I155T probably benign Het
Msrb3 T C 10: 120,784,141 D91G probably benign Het
Mycbp2 A T 14: 103,247,758 D1102E probably damaging Het
Nfx1 T A 4: 41,004,323 probably benign Het
Nrsn2 T C 2: 152,374,211 D24G possibly damaging Het
Olfr1262 A T 2: 90,002,466 K20I possibly damaging Het
Osmr T A 15: 6,842,808 R268S probably benign Het
Pelo C A 13: 115,088,661 V343L probably damaging Het
Rp1 T A 1: 4,344,817 N2024I probably damaging Het
Rps6ka2 C T 17: 7,228,012 Q33* probably null Het
Slfn2 G A 11: 83,069,467 V91I possibly damaging Het
Socs6 G T 18: 88,869,744 A349E probably damaging Het
Syt2 A G 1: 134,741,911 N97D probably benign Het
Tas2r123 T A 6: 132,847,438 H99Q probably damaging Het
Tmc3 A G 7: 83,590,725 probably benign Het
Ube2s A T 7: 4,810,477 V35D probably damaging Het
Usp32 A T 11: 85,022,832 V891D probably damaging Het
Vmn1r169 A T 7: 23,578,009 E275D probably benign Het
Vps13c A G 9: 67,934,504 H1936R probably benign Het
Wrap73 C A 4: 154,146,543 A92E probably damaging Het
Zfhx4 C T 3: 5,403,350 T2856M probably damaging Het
Zmym1 A T 4: 127,049,134 I487N probably damaging Het
Other mutations in Enam
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
X0018:Enam UTSW 5 88502691 nonsense probably null
Posted On2016-08-02