Incidental Mutation 'R7943:Enam'
ID 656359
Institutional Source Beutler Lab
Gene Symbol Enam
Ensembl Gene ENSMUSG00000029286
Gene Name enamelin
Synonyms abte
MMRRC Submission 045989-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R7943 (G1)
Quality Score 153.008
Status Validated
Chromosome 5
Chromosomal Location 88635834-88653908 bp(+) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) A to T at 88636410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031222] [ENSMUST00000031222] [ENSMUST00000199104] [ENSMUST00000199104]
AlphaFold O55196
Predicted Effect probably null
Transcript: ENSMUST00000031222
SMART Domains Protein: ENSMUSP00000031222
Gene: ENSMUSG00000029286

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 null
Transcript: ENSMUST00000031222
SMART Domains Protein: ENSMUSP00000031222
Gene: ENSMUSG00000029286

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 null
Transcript: ENSMUST00000199104
SMART Domains Protein: ENSMUSP00000142854
Gene: ENSMUSG00000029286

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
Predicted Effect probably null
Transcript: ENSMUST00000199104
SMART Domains Protein: ENSMUSP00000142854
Gene: ENSMUSG00000029286

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (68/68)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a C T 5: 8,736,222 (GRCm39) T205I probably benign Het
Acsbg1 T C 9: 54,530,021 (GRCm39) H225R probably damaging Het
Anks1 T A 17: 28,204,178 (GRCm39) Y209N probably damaging Het
Appl1 T A 14: 26,667,525 (GRCm39) I377L probably benign Het
Arl9 A T 5: 77,158,395 (GRCm39) D159V probably damaging Het
Arsa A C 15: 89,358,292 (GRCm39) L339R probably damaging Het
C2 A G 17: 35,091,354 (GRCm39) L380P probably damaging Het
Ccdc13 A G 9: 121,628,196 (GRCm39) C97R unknown Het
Ccdc74a A G 16: 17,468,416 (GRCm39) H346R probably benign Het
Ccnl1 T C 3: 65,864,326 (GRCm39) I152V probably benign Het
Cd4 C T 6: 124,847,207 (GRCm39) probably null Het
Ceacam5 A T 7: 17,479,491 (GRCm39) I203L probably benign Het
Ckap2 C A 8: 22,665,090 (GRCm39) R458L probably damaging Het
Cldn10 T C 14: 119,099,271 (GRCm39) probably null Het
Col27a1 C T 4: 63,236,520 (GRCm39) R1377C unknown Het
Cry1 A T 10: 84,978,984 (GRCm39) M514K probably benign Het
Crybg2 T G 4: 133,800,295 (GRCm39) V176G probably damaging Het
Cyp2j5 C T 4: 96,547,849 (GRCm39) G131D possibly damaging Het
Ddx46 A G 13: 55,817,535 (GRCm39) Y720C probably damaging Het
Dock10 A T 1: 80,626,006 (GRCm39) V44D probably damaging Het
Eif1ad8 C T 12: 87,563,773 (GRCm39) A36V probably damaging Het
Fam184a C A 10: 53,509,802 (GRCm39) E126* probably null Het
Fam184a C T 10: 53,523,137 (GRCm39) A956T probably damaging Het
Fbxw10 A T 11: 62,741,487 (GRCm39) R202* probably null Het
Fnip1 A G 11: 54,393,214 (GRCm39) E550G probably damaging Het
Gpr149 A G 3: 62,438,132 (GRCm39) L675P probably damaging Het
Hivep3 T C 4: 119,989,554 (GRCm39) Y2002H probably benign Het
Hp A G 8: 110,302,187 (GRCm39) Y254H probably damaging Het
Ighg1 G T 12: 113,293,957 (GRCm39) T62N Het
Jcad A G 18: 4,672,700 (GRCm39) E154G probably damaging Het
Kmt2a A G 9: 44,760,437 (GRCm39) S471P probably damaging Het
Med13 A G 11: 86,169,352 (GRCm39) V1968A probably damaging Het
Mknk2 T A 10: 80,511,701 (GRCm39) Q3L probably benign Het
Nup98 G A 7: 101,844,029 (GRCm39) T65I probably benign Het
Or10p21 T A 10: 128,847,934 (GRCm39) M260K possibly damaging Het
Or51f1e G A 7: 102,747,153 (GRCm39) M68I probably damaging Het
Or5m11 A G 2: 85,782,342 (GRCm39) T312A probably benign Het
Or9i14 A T 19: 13,792,600 (GRCm39) M118K probably damaging Het
Pcdhgb4 C T 18: 37,855,063 (GRCm39) T486I probably benign Het
Perm1 T A 4: 156,302,991 (GRCm39) F512I probably damaging Het
Pgap3 A T 11: 98,281,227 (GRCm39) L262Q probably damaging Het
Pklr A C 3: 89,048,814 (GRCm39) Y126S probably damaging Het
Ppl C T 16: 4,906,725 (GRCm39) R1190H probably damaging Het
Ppm1k T C 6: 57,501,813 (GRCm39) T117A probably benign Het
Prkd2 G A 7: 16,584,244 (GRCm39) E366K probably benign Het
Psd C A 19: 46,313,169 (GRCm39) C67F possibly damaging Het
Ptpra T A 2: 30,322,056 (GRCm39) F100L probably damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rock1 T C 18: 10,112,357 (GRCm39) E466G probably damaging Het
Sec16b A T 1: 157,382,327 (GRCm39) M588L probably benign Het
Serpina1f T A 12: 103,659,949 (GRCm39) H111L probably damaging Het
Sf3a1 T C 11: 4,116,537 (GRCm39) I76T possibly damaging Het
Shcbp1 A T 8: 4,798,812 (GRCm39) L369Q possibly damaging Het
Spef2 A G 15: 9,601,171 (GRCm39) M1697T unknown Het
St7 G A 6: 17,844,911 (GRCm39) C133Y probably damaging Het
Tdpoz6 A T 3: 93,600,070 (GRCm39) C100S probably benign Het
Tex19.1 T A 11: 121,037,986 (GRCm39) W115R possibly damaging Het
Tfrc T A 16: 32,449,039 (GRCm39) I726N probably benign Het
Thbs1 A G 2: 117,950,098 (GRCm39) probably null Het
Trim43a C T 9: 88,464,238 (GRCm39) P50S probably benign Het
Trpm4 A T 7: 44,958,105 (GRCm39) V935E probably damaging Het
Ttc12 A T 9: 49,381,620 (GRCm39) V117D possibly damaging Het
Ulbp1 T C 10: 7,407,053 (GRCm39) T82A probably damaging Het
Usp13 C T 3: 32,931,089 (GRCm39) H288Y probably damaging Het
Vmn2r82 A G 10: 79,232,079 (GRCm39) K693E possibly damaging Het
Vmn2r90 A G 17: 17,932,566 (GRCm39) T158A probably damaging Het
Vps8 A G 16: 21,296,622 (GRCm39) K540R possibly damaging Het
Zfp143 T A 7: 109,671,681 (GRCm39) probably null Het
Zfp709 G T 8: 72,643,933 (GRCm39) C454F 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
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
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'- AGGTTTTCTCCCAAACTACTCTGAC -3'
(R):5'- CATGGCTTTGGAGGAGAAGTC -3'

Sequencing Primer
(F):5'- AACTACTCTGACCTCCTTAACACTG -3'
(R):5'- AAGTCGGATTTCTGCACTGAAGC -3'
Posted On 2020-10-28