Incidental Mutation 'R2495:Ambn'
ID 250951
Institutional Source Beutler Lab
Gene Symbol Ambn
Ensembl Gene ENSMUSG00000029288
Gene Name ameloblastin
MMRRC Submission 040409-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # R2495 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 88603850-88616390 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88615663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 349 (I349T)
Ref Sequence ENSEMBL: ENSMUSP00000031226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031226] [ENSMUST00000198265]
AlphaFold O55189
Predicted Effect probably benign
Transcript: ENSMUST00000031226
AA Change: I349T

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000031226
Gene: ENSMUSG00000029288
AA Change: I349T

Amelin 11 407 7.19e-250 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198265
AA Change: I364T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000142944
Gene: ENSMUSG00000029288
AA Change: I364T

Amelin 11 422 8.22e-268 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (63/64)
MGI Phenotype FUNCTION: This gene encodes an extracellular matrix glycoprotein that is involved in the formation of dental enamel. Mice lacking the encoded protein fail to undergo normal ameloblast differentiation and develop enamel. Mice overproducing the product of this gene develop thinner and more porous enamel, with disrupted rod patterns and abnormal crystallites. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygous null mice lack enamel and display abnormal ameloblast and tooth morphology and an increased incidence of dental epithelium derived tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T C 3: 36,536,109 (GRCm39) F125S unknown Het
Abhd17c C T 7: 83,759,884 (GRCm39) W290* probably null Het
Acsl5 A T 19: 55,282,031 (GRCm39) K536* probably null Het
Adamts14 A T 10: 61,034,749 (GRCm39) probably null Het
Agbl3 A G 6: 34,823,699 (GRCm39) H788R probably damaging Het
Agrp T C 8: 106,293,408 (GRCm39) N126D possibly damaging Het
Ank1 T C 8: 23,622,280 (GRCm39) W1610R probably damaging Het
Aox3 T C 1: 58,227,567 (GRCm39) L1224P probably damaging Het
Arhgef28 A T 13: 98,165,881 (GRCm39) probably benign Het
Bcl11b G A 12: 107,881,706 (GRCm39) H798Y possibly damaging Het
Capn11 T A 17: 45,949,689 (GRCm39) M426L probably damaging Het
Cep95 A G 11: 106,700,108 (GRCm39) K290E possibly damaging Het
Cic A G 7: 24,991,201 (GRCm39) probably benign Het
Cnbd1 A T 4: 18,860,579 (GRCm39) M389K probably damaging Het
Cnksr1 A T 4: 133,959,473 (GRCm39) L387Q probably benign Het
Cntrob G T 11: 69,213,749 (GRCm39) P14T probably damaging Het
Crmp1 G A 5: 37,403,441 (GRCm39) probably null Het
Dido1 A G 2: 180,331,181 (GRCm39) V89A probably benign Het
Dnah7a T A 1: 53,645,040 (GRCm39) I999F probably damaging Het
Dsp T A 13: 38,377,453 (GRCm39) L1746Q possibly damaging Het
Dst T C 1: 34,238,454 (GRCm39) S3897P probably damaging Het
Fbxo10 A G 4: 45,040,545 (GRCm39) F887L probably benign Het
Gm21961 T A 15: 64,886,722 (GRCm39) H11L unknown Het
Gm4559 A T 7: 141,827,557 (GRCm39) C182S unknown Het
Golga3 T A 5: 110,355,462 (GRCm39) S939T probably damaging Het
Got2 A G 8: 96,614,918 (GRCm39) S6P possibly damaging Het
Gpatch8 A T 11: 102,369,307 (GRCm39) H1410Q probably damaging Het
Gpx5 T A 13: 21,475,610 (GRCm39) T39S probably benign Het
Grin2b T C 6: 135,710,180 (GRCm39) Y1122C probably damaging Het
Gsn A C 2: 35,193,205 (GRCm39) N538T probably damaging Het
Helz2 A G 2: 180,874,705 (GRCm39) S1930P probably damaging Het
Krt6b A T 15: 101,586,757 (GRCm39) F286Y probably damaging Het
Lrriq1 G A 10: 103,038,242 (GRCm39) R854C probably damaging Het
Mipol1 A T 12: 57,507,776 (GRCm39) probably benign Het
Mmp19 A G 10: 128,626,819 (GRCm39) probably benign Het
Msc T G 1: 14,825,473 (GRCm39) Y167S probably benign Het
Mycbp2 T G 14: 103,437,554 (GRCm39) K2103Q probably damaging Het
Myh11 C A 16: 14,023,421 (GRCm39) D1586Y probably damaging Het
Nol6 A T 4: 41,118,427 (GRCm39) D791E probably damaging Het
Pcm1 A G 8: 41,746,616 (GRCm39) T1272A probably benign Het
Phgdh A G 3: 98,247,105 (GRCm39) L15P probably damaging Het
Ptprk A T 10: 28,351,074 (GRCm39) probably benign Het
Ralgapa2 G T 2: 146,203,320 (GRCm39) D1091E possibly damaging Het
Rbbp8nl C A 2: 179,920,895 (GRCm39) K496N probably null Het
Rbm26 T C 14: 105,388,748 (GRCm39) probably benign Het
Rfx6 A C 10: 51,602,771 (GRCm39) probably benign Het
Rras G A 7: 44,667,488 (GRCm39) G17R probably damaging Het
Shisa6 G A 11: 66,108,459 (GRCm39) P473S probably damaging Het
Slc9a3 A G 13: 74,306,822 (GRCm39) K316E probably damaging Het
Slco1a7 C A 6: 141,711,503 (GRCm39) M69I probably benign Het
Spata31d1a A G 13: 59,849,807 (GRCm39) S774P possibly damaging Het
Spsb4 T C 9: 96,877,840 (GRCm39) Y161C probably damaging Het
Taf3 G T 2: 9,957,644 (GRCm39) N174K probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Trnt1 T A 6: 106,750,330 (GRCm39) V78E possibly damaging Het
Ubox5 A T 2: 130,441,441 (GRCm39) C415* probably null Het
Ucn2 C T 9: 108,815,477 (GRCm39) P80S possibly damaging Het
Vmn2r10 G A 5: 109,143,961 (GRCm39) T663I probably damaging Het
Wdfy1 A T 1: 79,685,222 (GRCm39) F337L probably null Het
Zfp287 A T 11: 62,605,459 (GRCm39) C483S probably damaging Het
Zyg11b A G 4: 108,101,921 (GRCm39) probably null Het
Other mutations in Ambn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Ambn APN 5 88,607,218 (GRCm39) missense probably damaging 0.99
IGL01139:Ambn APN 5 88,612,376 (GRCm39) splice site probably benign
IGL01318:Ambn APN 5 88,608,554 (GRCm39) splice site probably benign
IGL02139:Ambn APN 5 88,613,149 (GRCm39) missense probably benign
IGL02261:Ambn APN 5 88,604,807 (GRCm39) missense probably damaging 1.00
IGL02743:Ambn APN 5 88,612,343 (GRCm39) missense probably damaging 0.99
IGL03329:Ambn APN 5 88,609,527 (GRCm39) missense probably benign 0.34
R0242:Ambn UTSW 5 88,615,831 (GRCm39) missense possibly damaging 0.85
R0242:Ambn UTSW 5 88,615,831 (GRCm39) missense possibly damaging 0.85
R0563:Ambn UTSW 5 88,611,309 (GRCm39) missense probably benign 0.28
R1649:Ambn UTSW 5 88,612,340 (GRCm39) missense probably benign 0.16
R2118:Ambn UTSW 5 88,608,617 (GRCm39) splice site probably benign
R2121:Ambn UTSW 5 88,608,617 (GRCm39) splice site probably benign
R2124:Ambn UTSW 5 88,608,617 (GRCm39) splice site probably benign
R2877:Ambn UTSW 5 88,608,559 (GRCm39) splice site probably benign
R3779:Ambn UTSW 5 88,613,201 (GRCm39) splice site probably benign
R4760:Ambn UTSW 5 88,615,566 (GRCm39) missense probably damaging 1.00
R5422:Ambn UTSW 5 88,612,370 (GRCm39) critical splice donor site probably null
R5755:Ambn UTSW 5 88,612,350 (GRCm39) splice site probably null
R5883:Ambn UTSW 5 88,615,688 (GRCm39) nonsense probably null
R5970:Ambn UTSW 5 88,615,810 (GRCm39) missense possibly damaging 0.88
R6846:Ambn UTSW 5 88,609,574 (GRCm39) missense possibly damaging 0.65
R7166:Ambn UTSW 5 88,615,387 (GRCm39) missense possibly damaging 0.94
R7500:Ambn UTSW 5 88,609,493 (GRCm39) missense possibly damaging 0.95
R7809:Ambn UTSW 5 88,615,683 (GRCm39) missense probably benign 0.00
R8306:Ambn UTSW 5 88,607,281 (GRCm39) missense possibly damaging 0.95
R8898:Ambn UTSW 5 88,613,051 (GRCm39) critical splice donor site probably null
R9481:Ambn UTSW 5 88,613,050 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-12-04