Incidental Mutation 'R6651:Enam'
ID 527778
Institutional Source Beutler Lab
Gene Symbol Enam
Ensembl Gene ENSMUSG00000029286
Gene Name enamelin
Synonyms abte
MMRRC Submission 044772-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R6651 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 88635834-88653908 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88650776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 687 (Y687H)
Ref Sequence ENSEMBL: ENSMUSP00000031222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031222] [ENSMUST00000199104]
AlphaFold O55196
Predicted Effect probably damaging
Transcript: ENSMUST00000031222
AA Change: Y687H

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031222
Gene: ENSMUSG00000029286
AA Change: Y687H

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: Y762H

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000142854
Gene: ENSMUSG00000029286
AA Change: Y762H

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
Validation Efficiency 98% (50/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A C 7: 43,147,496 (GRCm39) S198A possibly damaging Het
Adamts15 A T 9: 30,833,448 (GRCm39) I29N probably damaging Het
Ankrd61 A T 5: 143,830,438 (GRCm39) I33N probably damaging Het
Arl6ip1 C T 7: 117,728,708 (GRCm39) R7H probably benign Het
Atp8a2 A T 14: 60,011,470 (GRCm39) D946E probably benign Het
Cc2d2b A T 19: 40,766,573 (GRCm39) Q114L probably damaging Het
Ccdc163 T A 4: 116,566,261 (GRCm39) S16R possibly damaging Het
Chil6 C T 3: 106,311,576 (GRCm39) C68Y probably damaging Het
Cngb3 G T 4: 19,375,231 (GRCm39) R287L probably benign Het
Crem C T 18: 3,325,428 (GRCm39) R16H probably benign Het
Cyp4f16 C T 17: 32,763,118 (GRCm39) R188C probably benign Het
Dap A G 15: 31,273,353 (GRCm39) D46G probably damaging Het
Dnah7c C A 1: 46,688,500 (GRCm39) T1890K probably benign Het
Dnah7c A G 1: 46,688,511 (GRCm39) S1894G probably benign Het
Fzd4 A T 7: 89,054,010 (GRCm39) D39V possibly damaging Het
Ggta1 G T 2: 35,292,306 (GRCm39) H334N probably benign Het
Golga3 C T 5: 110,365,996 (GRCm39) R1254* probably null Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Helz2 C T 2: 180,881,350 (GRCm39) W377* probably null Het
Hfm1 T C 5: 106,995,553 (GRCm39) D1286G probably benign Het
Hhatl T C 9: 121,613,768 (GRCm39) R425G probably damaging Het
Hivep3 G A 4: 119,980,146 (GRCm39) R1728H probably damaging Het
Hyal1 A G 9: 107,456,570 (GRCm39) Y419C probably damaging Het
Ighv8-12 A T 12: 115,611,644 (GRCm39) D84E possibly damaging Het
Itln1 A G 1: 171,345,940 (GRCm39) F271L possibly damaging Het
Klra7 C A 6: 130,206,908 (GRCm39) L64F probably benign Het
Kmt2a A T 9: 44,740,108 (GRCm39) C1878* probably null Het
Mia2 C A 12: 59,201,148 (GRCm39) Q825K possibly damaging Het
Mmp12 C A 9: 7,355,345 (GRCm39) P294Q possibly damaging Het
Nedd4 A G 9: 72,638,553 (GRCm39) N480S possibly damaging Het
Or4c12b A T 2: 89,647,240 (GRCm39) E190V probably benign Het
Or4e5 C T 14: 52,728,250 (GRCm39) R57Q probably benign Het
Pax6 T A 2: 105,516,175 (GRCm39) M151K probably benign Het
Pgm2 A G 5: 64,269,437 (GRCm39) Y508C probably benign Het
Ptpn20 T C 14: 33,354,897 (GRCm39) F324S probably damaging Het
Recql A G 6: 142,310,160 (GRCm39) probably null Het
Rerg A G 6: 137,033,384 (GRCm39) V97A probably damaging Het
Rffl C A 11: 82,703,605 (GRCm39) C106F probably damaging Het
Scaper T G 9: 55,765,788 (GRCm39) N499T probably benign Het
Sfxn3 G A 19: 45,038,354 (GRCm39) probably null Het
Slc36a4 A G 9: 15,634,874 (GRCm39) S139G probably benign Het
Slco2b1 T A 7: 99,316,376 (GRCm39) M385L probably benign Het
Smg8 T C 11: 86,977,372 (GRCm39) T70A probably benign Het
Spats2l A T 1: 57,985,336 (GRCm39) K463M probably damaging Het
Thbs4 T C 13: 92,893,044 (GRCm39) I715V probably benign Het
Tmem234 T A 4: 129,501,264 (GRCm39) M113K possibly damaging Het
Vmn2r10 T C 5: 109,143,488 (GRCm39) I821V probably null Het
Vmn2r116 A T 17: 23,607,805 (GRCm39) K458* probably null Het
Vmn2r76 T A 7: 85,878,059 (GRCm39) N446I possibly damaging Het
Vmn2r95 T A 17: 18,660,622 (GRCm39) Y345N probably damaging Het
Other mutations in Enam
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Predicted Primers PCR Primer
(F):5'- ACTATAATTTGCCTCGCTCTGAG -3'
(R):5'- GAGCTCTTATCCCATGGATTGC -3'

Sequencing Primer
(F):5'- CTCTGAGGGCAGCATGGTAG -3'
(R):5'- CCCATGGATTGCTTTTAATGTACTG -3'
Posted On 2018-07-23