Incidental Mutation 'R6830:Amtn'
ID534345
Institutional Source Beutler Lab
Gene Symbol Amtn
Ensembl Gene ENSMUSG00000029282
Gene Nameamelotin
Synonyms5430427O21Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #R6830 (G1)
Quality Score225.009
Status Validated
Chromosome5
Chromosomal Location88376108-88385916 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 88378097 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 40 (L40P)
Ref Sequence ENSEMBL: ENSMUSP00000073081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073363]
Predicted Effect probably damaging
Transcript: ENSMUST00000073363
AA Change: L40P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000073081
Gene: ENSMUSG00000029282
AA Change: L40P

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Amelotin 17 211 2e-96 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 98% (53/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enamel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed 16304441]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enamel hypomineralization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T C 15: 8,176,184 S135P probably benign Het
4930503B20Rik T C 3: 146,650,961 D64G possibly damaging Het
Ano6 A G 15: 95,894,461 R90G probably damaging Het
Arfgef3 A C 10: 18,664,889 probably null Het
Asxl3 C T 18: 22,525,388 P2152S probably benign Het
Atp7b A T 8: 22,022,365 V494E probably damaging Het
Bik T A 15: 83,544,208 Y146N probably benign Het
C1qtnf7 A T 5: 43,609,094 I12F possibly damaging Het
Cacna1e A G 1: 154,413,974 probably null Het
Ccnj A G 19: 40,845,192 E231G probably damaging Het
Cd101 T C 3: 100,993,696 K1020R probably benign Het
Cdh6 C A 15: 13,044,774 V421L probably benign Het
Decr1 T C 4: 15,924,355 probably null Het
Dmxl1 C T 18: 49,921,024 P2566S probably damaging Het
Dock9 G A 14: 121,622,918 P866L probably damaging Het
Epx A G 11: 87,868,626 F546L probably damaging Het
Fat4 T A 3: 38,981,817 M3206K probably benign Het
Fgb T C 3: 83,045,025 D179G probably benign Het
Gbgt1 A G 2: 28,505,208 D286G probably damaging Het
Gm8251 A G 1: 44,056,730 V1736A probably benign Het
Gpn1 T A 5: 31,507,488 S285R probably benign Het
Htt T A 5: 34,834,326 Y1212N possibly damaging Het
Kcnj13 T C 1: 87,387,023 K159R probably damaging Het
Ldb2 T A 5: 44,541,857 I80F probably damaging Het
Macrod2 T A 2: 140,452,682 N89K probably damaging Het
Mdga2 G A 12: 66,723,001 R173C probably damaging Het
Mroh9 A G 1: 163,076,366 F26L probably benign Het
Neil3 G T 8: 53,599,479 N361K probably benign Het
Nepro A G 16: 44,731,357 R193G probably damaging Het
Olfr653 T A 7: 104,580,240 I198N probably damaging Het
Pclo A T 5: 14,681,099 Q3205L unknown Het
Plekhm1 A T 11: 103,376,889 I752N probably damaging Het
Podn T C 4: 108,021,417 T273A possibly damaging Het
Prep T A 10: 45,097,501 M235K probably benign Het
Ptprc A T 1: 138,072,255 probably null Het
Reg2 A G 6: 78,407,642 H119R possibly damaging Het
Rpe65 T C 3: 159,614,168 V225A probably benign Het
Scn9a T C 2: 66,568,029 D79G probably damaging Het
Slc25a23 G A 17: 57,053,804 R9* probably null Het
Snai3 A G 8: 122,456,473 L111P probably damaging Het
Stk38 A G 17: 29,000,007 probably null Het
Stk38l A T 6: 146,766,771 I115F possibly damaging Het
Tmco6 T A 18: 36,738,353 probably null Het
Tollip A T 7: 141,898,714 M1K probably null Het
Trim40 T C 17: 36,888,850 Y112C possibly damaging Het
Ttc27 T A 17: 74,856,555 Y719* probably null Het
Ubald1 T C 16: 4,879,720 D6G probably damaging Het
Vmn2r59 A T 7: 42,043,747 S476R probably benign Het
Wfdc3 C T 2: 164,734,258 G38R possibly damaging Het
Zbtb21 C T 16: 97,951,961 G402D probably damaging Het
Zfp84 A G 7: 29,776,486 Y201C probably benign Het
Zswim2 T A 2: 83,939,684 H62L probably damaging Het
Other mutations in Amtn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00832:Amtn APN 5 88385049 missense possibly damaging 0.71
IGL02424:Amtn APN 5 88381597 splice site probably benign
IGL02851:Amtn APN 5 88381622 missense probably benign 0.32
IGL03085:Amtn APN 5 88381642 splice site probably benign
IGL03106:Amtn APN 5 88378085 missense probably benign 0.32
IGL03153:Amtn APN 5 88384969 missense possibly damaging 0.71
R0762:Amtn UTSW 5 88385000 missense possibly damaging 0.93
R1537:Amtn UTSW 5 88378870 missense probably null 0.32
R5436:Amtn UTSW 5 88381626 missense probably damaging 0.98
R5696:Amtn UTSW 5 88385085 nonsense probably null
R6455:Amtn UTSW 5 88380280 missense probably damaging 0.98
R7528:Amtn UTSW 5 88378852 splice site probably null
X0065:Amtn UTSW 5 88378097 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GACTTGGCAATTCCCCAGTC -3'
(R):5'- CCATCCACTTTGCAAAGCTTTG -3'

Sequencing Primer
(F):5'- CTTAAAACTACTGCAAAAGACATGG -3'
(R):5'- AAAAGAATGAGGTTGCTTGGTTTTC -3'
Posted On2018-09-12