Incidental Mutation 'R1727:Enam'
ID 198219
Institutional Source Beutler Lab
Gene Symbol Enam
Ensembl Gene ENSMUSG00000029286
Gene Name enamelin
Synonyms abte
MMRRC Submission 039759-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R1727 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 88635834-88653908 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88651853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 1046 (S1046C)
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: S1046C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031222
Gene: ENSMUSG00000029286
AA Change: S1046C

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 damaging
Transcript: ENSMUST00000199104
AA Change: S1121C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142854
Gene: ENSMUSG00000029286
AA Change: S1121C

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
Meta Mutation Damage Score 0.0940 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.3%
Validation Efficiency 96% (98/102)
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 T C 13: 104,565,472 (GRCm39) probably benign Het
Ak2 C T 4: 128,901,556 (GRCm39) P159L probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Akr1a1 A G 4: 116,498,248 (GRCm39) L99P probably damaging Het
Anxa8 T A 14: 33,811,547 (GRCm39) M34K probably damaging Het
Axl T G 7: 25,460,191 (GRCm39) D767A possibly damaging Het
B430305J03Rik A G 3: 61,271,299 (GRCm39) probably benign Het
Cdh24 A T 14: 54,876,095 (GRCm39) Y182* probably null Het
Cdk5rap2 T C 4: 70,190,916 (GRCm39) D1043G probably benign Het
Cdk5rap2 A T 4: 70,208,209 (GRCm39) S746T possibly damaging Het
Cep120 T C 18: 53,860,801 (GRCm39) M210V probably benign Het
Chga C T 12: 102,527,696 (GRCm39) H117Y possibly damaging Het
Cnga4 T C 7: 105,054,961 (GRCm39) W79R probably damaging Het
Cntnap5b C T 1: 100,141,469 (GRCm39) T575I possibly damaging Het
Col6a3 T A 1: 90,724,296 (GRCm39) probably null Het
Copz2 T C 11: 96,744,301 (GRCm39) V71A probably benign Het
Dennd3 G T 15: 73,436,977 (GRCm39) R1068L possibly damaging Het
Dhrs7 T C 12: 72,706,238 (GRCm39) T56A probably damaging Het
Dnah17 G A 11: 117,961,315 (GRCm39) T2557I probably damaging Het
Dnah17 A T 11: 117,987,362 (GRCm39) L1320* probably null Het
Dynlt2b T A 16: 32,241,751 (GRCm39) M78K probably benign Het
Eif3b T C 5: 140,411,077 (GRCm39) I176T probably damaging Het
Eif4b T A 15: 101,998,497 (GRCm39) D392E possibly damaging Het
Eif4h T C 5: 134,668,134 (GRCm39) Y7C probably damaging Het
Epg5 T A 18: 78,059,030 (GRCm39) V1928E possibly damaging Het
Erbin T A 13: 103,964,476 (GRCm39) E1222V probably benign Het
Fhdc1 T A 3: 84,353,483 (GRCm39) I581F possibly damaging Het
Fhip2b C A 14: 70,831,438 (GRCm39) G32V probably damaging Het
Fstl4 A C 11: 52,959,478 (GRCm39) Q173P probably damaging Het
Gm266 A G 12: 111,451,913 (GRCm39) F98L possibly damaging Het
Gsdmc2 T C 15: 63,721,628 (GRCm39) probably benign Het
Gtf2h3 A G 5: 124,728,419 (GRCm39) Q156R probably benign Het
H2-T23 T C 17: 36,342,545 (GRCm39) T198A possibly damaging Het
Il1r1 C A 1: 40,332,424 (GRCm39) A68E probably benign Het
Kcna7 A T 7: 45,058,930 (GRCm39) I406F possibly damaging Het
Lbr A G 1: 181,647,481 (GRCm39) I432T probably benign Het
Lnx1 A T 5: 74,768,577 (GRCm39) probably null Het
Lrrcc1 T A 3: 14,602,423 (GRCm39) I50N probably damaging Het
Lss T C 10: 76,375,678 (GRCm39) V237A possibly damaging Het
Mcm10 A G 2: 5,011,336 (GRCm39) F212L probably benign Het
Methig1 A C 15: 100,251,130 (GRCm39) I14L probably benign Het
Mrpl41 A T 2: 24,864,636 (GRCm39) V55E probably damaging Het
Mtfp1 C A 11: 4,043,982 (GRCm39) D83Y probably damaging Het
Myh1 T A 11: 67,101,292 (GRCm39) probably benign Het
Myo1e T C 9: 70,283,806 (GRCm39) F834S possibly damaging Het
Ndufs7 A T 10: 80,091,853 (GRCm39) probably benign Het
Nlrp4e T A 7: 23,020,420 (GRCm39) N302K probably benign Het
Nt5e T A 9: 88,210,082 (GRCm39) M115K possibly damaging Het
Nup153 A T 13: 46,847,261 (GRCm39) C723S probably damaging Het
Obox6 G A 7: 15,568,502 (GRCm39) P125S probably benign Het
Or1n2 G A 2: 36,797,405 (GRCm39) C149Y probably benign Het
Or2t48 A T 11: 58,420,342 (GRCm39) S157T possibly damaging Het
Or52n3 C T 7: 104,530,721 (GRCm39) T269I probably benign Het
Or5an11 T G 19: 12,246,365 (GRCm39) I257S possibly damaging Het
Or8i2 A G 2: 86,852,607 (GRCm39) F94L probably damaging Het
Pcdh1 A C 18: 38,336,085 (GRCm39) Y44* probably null Het
Pcdhb6 A T 18: 37,467,640 (GRCm39) D187V probably damaging Het
Pclo A G 5: 14,727,001 (GRCm39) probably benign Het
Pdcl3 T A 1: 39,034,836 (GRCm39) I80K possibly damaging Het
Pde12 A T 14: 26,390,022 (GRCm39) V229E probably benign Het
Plcg1 A G 2: 160,590,008 (GRCm39) E142G probably benign Het
Plxnb1 A G 9: 108,930,125 (GRCm39) probably null Het
Pnpla1 A G 17: 29,097,508 (GRCm39) I225V probably benign Het
Polr2f A G 15: 79,028,805 (GRCm39) probably benign Het
Prob1 A G 18: 35,787,364 (GRCm39) S297P possibly damaging Het
Qsox2 A C 2: 26,110,970 (GRCm39) S132A probably benign Het
Rab19 T A 6: 39,365,095 (GRCm39) Y118* probably null Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rptn T C 3: 93,304,445 (GRCm39) S593P possibly damaging Het
Septin11 T C 5: 93,304,783 (GRCm39) I200T probably damaging Het
Slc10a4 T A 5: 73,173,491 (GRCm39) probably benign Het
Slc9c1 A T 16: 45,422,324 (GRCm39) I1130F probably benign Het
Slit3 C T 11: 35,520,659 (GRCm39) R599C probably damaging Het
Snx19 C T 9: 30,344,662 (GRCm39) P622L probably damaging Het
Sspo T C 6: 48,471,782 (GRCm39) L50P probably damaging Het
St8sia1 A T 6: 142,822,453 (GRCm39) C137S probably damaging Het
Syt11 G C 3: 88,669,259 (GRCm39) T211S possibly damaging Het
Tanc1 A C 2: 59,621,153 (GRCm39) Y324S probably damaging Het
Tas2r136 T C 6: 132,754,753 (GRCm39) I125V possibly damaging Het
Tbc1d15 A T 10: 115,046,130 (GRCm39) W458R probably damaging Het
Tecta G T 9: 42,270,597 (GRCm39) T1237N probably damaging Het
Tet2 T A 3: 133,193,051 (GRCm39) D461V probably damaging Het
Tmco3 G A 8: 13,368,866 (GRCm39) V573M possibly damaging Het
Tmem212 A T 3: 27,938,961 (GRCm39) M175K probably benign Het
Traf6 A G 2: 101,527,084 (GRCm39) H278R probably benign Het
Trerf1 T A 17: 47,652,092 (GRCm39) noncoding transcript Het
Ttn A C 2: 76,576,988 (GRCm39) V24635G probably damaging Het
Ush1c A T 7: 45,858,655 (GRCm39) D544E probably damaging Het
Usp47 C T 7: 111,685,307 (GRCm39) T586M probably damaging Het
Vmn2r1 T A 3: 63,989,163 (GRCm39) M34K probably benign Het
Vmn2r102 T A 17: 19,897,770 (GRCm39) W262R probably damaging Het
Wasf3 C T 5: 146,403,769 (GRCm39) A293V probably benign Het
Xrn2 A G 2: 146,903,436 (GRCm39) Q812R probably benign Het
Zc3h7b T C 15: 81,652,230 (GRCm39) I10T probably damaging Het
Zfp747 A T 7: 126,973,249 (GRCm39) L307Q probably damaging Het
Zfp777 A T 6: 48,020,824 (GRCm39) F266Y 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
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
Predicted Primers PCR Primer
(F):5'- CAGACTTCCTGCCTCAAAGTTACCC -3'
(R):5'- AAGGCCAGCAGTTCTTTCACTCAG -3'

Sequencing Primer
(F):5'- GTTACCCAACAGGTCAAAATGAAG -3'
(R):5'- CTCCAAGGTCACTTTTAAGACAGG -3'
Posted On 2014-05-23