Incidental Mutation 'R5755:Ambn'
ID 462621
Institutional Source Beutler Lab
Gene Symbol Ambn
Ensembl Gene ENSMUSG00000029288
Gene Name ameloblastin
Synonyms
MMRRC Submission 043202-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # R5755 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 88603850-88616390 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 88612350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031226] [ENSMUST00000198265]
AlphaFold O55189
Predicted Effect probably null
Transcript: ENSMUST00000031226
SMART Domains Protein: ENSMUSP00000031226
Gene: ENSMUSG00000029288

DomainStartEndE-ValueType
Amelin 11 407 7.19e-250 SMART
Predicted Effect probably null
Transcript: ENSMUST00000198265
SMART Domains Protein: ENSMUSP00000142944
Gene: ENSMUSG00000029288

DomainStartEndE-ValueType
Amelin 11 422 8.22e-268 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,617,428 (GRCm39) F1042I probably damaging Het
Ahnak A G 19: 8,979,096 (GRCm39) T127A probably benign Het
Aloxe3 A G 11: 69,023,575 (GRCm39) I233V probably benign Het
Atp2b1 A G 10: 98,839,032 (GRCm39) E39G probably damaging Het
Atp2b1 T C 10: 98,830,671 (GRCm39) probably null Het
Camsap2 C T 1: 136,210,065 (GRCm39) G476R probably damaging Het
Cdk4 T A 10: 126,900,591 (GRCm39) probably null Het
Dcaf12 T C 4: 41,313,356 (GRCm39) Y63C probably damaging Het
Dtna T A 18: 23,754,520 (GRCm39) S445T probably benign Het
Ehmt2 T C 17: 35,127,214 (GRCm39) M109T probably benign Het
Erbb4 T C 1: 68,599,678 (GRCm39) E133G possibly damaging Het
F830016B08Rik T A 18: 60,433,878 (GRCm39) F320L probably damaging Het
Fyco1 A G 9: 123,657,773 (GRCm39) V801A possibly damaging Het
Gm57858 A T 3: 36,071,842 (GRCm39) M501K probably benign Het
Jag1 T A 2: 136,930,610 (GRCm39) N674Y probably damaging Het
Kcnj10 A G 1: 172,197,161 (GRCm39) E225G possibly damaging Het
Klhl11 T A 11: 100,355,177 (GRCm39) M215L probably benign Het
Kmt2d G T 15: 98,761,527 (GRCm39) P608T unknown Het
Map3k19 T C 1: 127,750,118 (GRCm39) M1078V probably benign Het
Neto1 T C 18: 86,517,219 (GRCm39) V512A probably damaging Het
Notch1 T C 2: 26,363,704 (GRCm39) D910G probably benign Het
Or1e19 T A 11: 73,316,557 (GRCm39) N84I probably benign Het
Or2w1 T A 13: 21,317,695 (GRCm39) I250K probably damaging Het
Parvg T C 15: 84,215,297 (GRCm39) probably null Het
Pi4kb A T 3: 94,901,608 (GRCm39) probably null Het
Plag1 T C 4: 3,904,492 (GRCm39) K233R possibly damaging Het
Polr1h T A 17: 37,269,049 (GRCm39) D43V probably benign Het
Rasgrp3 A C 17: 75,831,940 (GRCm39) D587A probably benign Het
Slc7a10 A T 7: 34,898,336 (GRCm39) I336F probably damaging Het
Snx8 T G 5: 140,338,796 (GRCm39) E254A possibly damaging Het
Sp3 A T 2: 72,768,725 (GRCm39) silent Het
Sp8 G T 12: 118,812,822 (GRCm39) A226S probably damaging Het
Spata31d1c C A 13: 65,184,341 (GRCm39) Q628K probably benign Het
Styx C A 14: 45,605,910 (GRCm39) T138K probably benign Het
Syngr3 A G 17: 24,905,509 (GRCm39) F155S probably damaging Het
Trip11 C T 12: 101,851,924 (GRCm39) W428* probably null Het
Ubr4 A G 4: 139,187,406 (GRCm39) T3825A possibly damaging Het
Vmn2r113 A T 17: 23,176,955 (GRCm39) T580S probably benign Het
Zbtb11 T A 16: 55,821,076 (GRCm39) S724R probably benign Het
Zcchc4 T C 5: 52,973,511 (GRCm39) S379P probably benign 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
R2495:Ambn UTSW 5 88,615,663 (GRCm39) missense probably benign 0.05
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
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
(F):5'- ACTGGAGCCATGTCAATATAAGAC -3'
(R):5'- GACTTTTAAGAGTTCCAGGAACAC -3'

Sequencing Primer
(F):5'- CACAAACTAGAGGTGTACTC -3'
(R):5'- GATTGATTAGTGTGAAAACTTAGCAC -3'
Posted On 2017-03-01