Incidental Mutation 'R7999:Enam'
ID 616249
Institutional Source Beutler Lab
Gene Symbol Enam
Ensembl Gene ENSMUSG00000029286
Gene Name enamelin
Synonyms abte
MMRRC Submission 046039-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R7999 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 88635834-88653908 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88651561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 1023 (R1023S)
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: R948S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000031222
Gene: ENSMUSG00000029286
AA Change: R948S

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: R1023S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142854
Gene: ENSMUSG00000029286
AA Change: R1023S

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 A G 10: 20,841,580 (GRCm39) E289G probably benign Het
Armc2 C T 10: 41,887,954 (GRCm39) E10K possibly damaging Het
Aspscr1 T C 11: 120,569,348 (GRCm39) probably null Het
B3galnt1 A G 3: 69,482,548 (GRCm39) C238R probably damaging Het
Bak1 A G 17: 27,240,280 (GRCm39) L129P probably damaging Het
Bdp1 A G 13: 100,195,404 (GRCm39) F1272L possibly damaging Het
C2cd3 G A 7: 100,109,096 (GRCm39) probably null Het
Cacna1b A T 2: 24,540,638 (GRCm39) V1363E probably damaging Het
Capn11 T C 17: 45,950,132 (GRCm39) N344S probably damaging Het
Ces1f A T 8: 93,989,623 (GRCm39) V431E possibly damaging Het
Cog3 G T 14: 75,984,533 (GRCm39) S94Y possibly damaging Het
Defa29 A T 8: 21,816,859 (GRCm39) S45T probably benign Het
Dnaaf9 C A 2: 130,579,372 (GRCm39) V753L probably benign Het
Dnah10 A G 5: 124,802,322 (GRCm39) D32G probably benign Het
Dnajc24 T A 2: 105,811,365 (GRCm39) N70I probably damaging Het
Duox2 C T 2: 122,113,948 (GRCm39) V1195I probably benign Het
Ephx4 A T 5: 107,567,699 (GRCm39) Q219L probably damaging Het
Eppk1 T C 15: 75,993,204 (GRCm39) T1226A probably benign Het
Eppk1 T C 15: 75,993,335 (GRCm39) Q1182R probably benign Het
Fiz1 A T 7: 5,011,997 (GRCm39) S174T probably benign Het
Ggnbp1 C T 17: 27,248,619 (GRCm39) R63C probably benign Het
Gmcl1 G T 6: 86,698,408 (GRCm39) A163E probably damaging Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Gsdmd T A 15: 75,735,295 (GRCm39) I13N probably damaging Het
Gtpbp4 T C 13: 9,037,322 (GRCm39) D292G probably damaging Het
Hnf1a A T 5: 115,098,233 (GRCm39) L123* probably null Het
Ints11 A G 4: 155,971,413 (GRCm39) D309G probably benign Het
Ints5 T C 19: 8,874,407 (GRCm39) S789P probably benign Het
Jakmip2 G A 18: 43,696,398 (GRCm39) A517V probably benign Het
Kat7 A G 11: 95,174,935 (GRCm39) Y270H probably damaging Het
Kmt2b A G 7: 30,276,199 (GRCm39) S1767P probably damaging Het
Lonp2 A G 8: 87,361,537 (GRCm39) D238G probably benign Het
Lrfn3 A G 7: 30,059,449 (GRCm39) W259R probably damaging Het
Mmrn2 G A 14: 34,119,879 (GRCm39) D250N probably benign Het
Mre11a A T 9: 14,710,965 (GRCm39) R49* probably null Het
Mug1 T C 6: 121,857,855 (GRCm39) L1116P possibly damaging Het
Mup9 A G 4: 60,374,202 (GRCm39) S234P probably benign Het
Nlrp9c A G 7: 26,084,914 (GRCm39) F222L possibly damaging Het
Nr2e3 A G 9: 59,856,282 (GRCm39) V85A probably damaging Het
Or4a79 A G 2: 89,552,344 (GRCm39) I37T probably benign Het
Prl3d2 A G 13: 27,307,949 (GRCm39) T77A probably benign Het
Prpsap1 A T 11: 116,381,042 (GRCm39) M1K probably null Het
Prrc2b C T 2: 32,084,426 (GRCm39) T297M probably damaging Het
Rasa3 A G 8: 13,681,805 (GRCm39) F48S probably benign Het
Rbm24 A T 13: 46,572,507 (GRCm39) M1L possibly damaging Het
Ren1 C A 1: 133,282,604 (GRCm39) T103K probably damaging Het
Rpf2 C T 10: 40,099,880 (GRCm39) G260S probably damaging Het
Sall4 C T 2: 168,594,561 (GRCm39) G862D probably damaging Het
Samd4 G T 14: 47,301,704 (GRCm39) R336L probably damaging Het
Shoc1 G C 4: 59,094,162 (GRCm39) F187L probably benign Het
Siglec1 T C 2: 130,913,083 (GRCm39) N1611S probably benign Het
Skil A G 3: 31,151,751 (GRCm39) H91R possibly damaging Het
Snip1 T C 4: 124,965,174 (GRCm39) V193A probably benign Het
Sp2 A T 11: 96,852,663 (GRCm39) I87N probably damaging Het
Syna T C 5: 134,588,046 (GRCm39) H301R probably benign Het
Tdg A G 10: 82,477,216 (GRCm39) K89R possibly damaging Het
Tdrd7 G A 4: 46,010,902 (GRCm39) probably null Het
Trak1 G A 9: 121,289,491 (GRCm39) R601H probably damaging Het
Triobp T C 15: 78,844,144 (GRCm39) L120P probably damaging Het
Utp20 A T 10: 88,606,250 (GRCm39) N1697K probably benign Het
Uts2r G A 11: 121,051,495 (GRCm39) V120M possibly damaging Het
Vmn2r59 A G 7: 41,696,256 (GRCm39) L162P probably damaging Het
Zbtb17 G A 4: 141,189,134 (GRCm39) R18Q probably damaging Het
Zfp551 A T 7: 12,151,138 (GRCm39) C90* probably null Het
Zfp605 T A 5: 110,276,300 (GRCm39) C473S probably damaging Het
Zfp764l1 T A 7: 126,991,600 (GRCm39) S117C probably damaging Het
Zfp975 A T 7: 42,312,356 (GRCm39) Y86N probably benign 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
R7943:Enam UTSW 5 88,636,410 (GRCm39) splice site probably null
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'- CTACTATAGCACCACCCGTG -3'
(R):5'- ATACAGCAAGACCCTCTTTGAC -3'

Sequencing Primer
(F):5'- CCGTGGACCCCAGAAGTTATTATG -3'
(R):5'- AGCAAGACCCTCTTTGACTTTGG -3'
Posted On 2020-01-23