Incidental Mutation 'IGL01318:Ambn'
ID 73956
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ambn
Ensembl Gene ENSMUSG00000029288
Gene Name ameloblastin
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # IGL01318
Quality Score
Status
Chromosome 5
Chromosomal Location 88603850-88616390 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 88608554 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 benign
Transcript: ENSMUST00000031226
SMART Domains Protein: ENSMUSP00000031226
Gene: ENSMUSG00000029288

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

DomainStartEndE-ValueType
Amelin 11 422 8.22e-268 SMART
Coding Region Coverage
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
Alg10b T C 15: 90,112,592 (GRCm39) probably benign Het
Asap2 A G 12: 21,297,296 (GRCm39) D585G probably null Het
Chaf1a G T 17: 56,366,336 (GRCm39) probably benign Het
Ddhd1 A G 14: 45,854,008 (GRCm39) S443P probably damaging Het
Dlk2 A G 17: 46,613,390 (GRCm39) E215G probably damaging Het
Efhd2 T C 4: 141,587,176 (GRCm39) N202S probably benign Het
Gkap1 A T 13: 58,384,853 (GRCm39) I308K probably damaging Het
Gm9848 T A 13: 113,244,774 (GRCm39) noncoding transcript Het
Hmcn1 G A 1: 150,594,991 (GRCm39) T1826I probably damaging Het
Htr5a T C 5: 28,047,742 (GRCm39) V99A probably benign Het
Inha T G 1: 75,486,572 (GRCm39) F289C probably damaging Het
Kcna3 T C 3: 106,945,294 (GRCm39) V519A probably benign Het
Kcnma1 A T 14: 23,364,390 (GRCm39) probably benign Het
Kctd1 A G 18: 15,195,747 (GRCm39) V292A possibly damaging Het
Magea13 T A X: 57,964,829 (GRCm39) I196N probably damaging Het
Map2k4 A G 11: 65,647,089 (GRCm39) probably benign Het
Mfap2 G T 4: 140,742,856 (GRCm39) A175S possibly damaging Het
Milr1 G A 11: 106,656,071 (GRCm39) A114T possibly damaging Het
Mogs G T 6: 83,095,558 (GRCm39) V792F probably damaging Het
Nt5dc3 T A 10: 86,661,089 (GRCm39) M418K possibly damaging Het
Or5b12 A G 19: 12,897,490 (GRCm39) L61P probably damaging Het
Or7d10 A G 9: 19,832,054 (GRCm39) E183G probably benign Het
Or8h8 A T 2: 86,753,293 (GRCm39) N194K probably benign Het
Osbpl10 G A 9: 115,061,190 (GRCm39) W756* probably null Het
Pgam5 A G 5: 110,413,391 (GRCm39) Y235H probably damaging Het
Pgm5 G T 19: 24,793,842 (GRCm39) A274E probably damaging Het
Prex1 C A 2: 166,411,260 (GRCm39) probably benign Het
Prps1l1 A T 12: 35,035,377 (GRCm39) N164I probably benign Het
Ralbp1 C A 17: 66,171,277 (GRCm39) R232L probably damaging Het
Rnaseh2a C T 8: 85,691,752 (GRCm39) probably benign Het
Stard9 A T 2: 120,529,200 (GRCm39) H1819L possibly damaging Het
Stom T A 2: 35,226,889 (GRCm39) I15F probably benign Het
Tasor2 A C 13: 3,625,067 (GRCm39) S946A possibly damaging Het
Tph1 T G 7: 46,314,662 (GRCm39) T22P probably damaging Het
Uqcrfs1 A G 13: 30,724,904 (GRCm39) I212T probably benign Het
Ush2a T C 1: 188,546,550 (GRCm39) I3442T probably benign Het
Vinac1 C A 2: 128,880,622 (GRCm39) V435L probably benign Het
Vmn2r113 A G 17: 23,177,309 (GRCm39) I698V probably benign Het
Vmn2r75 T C 7: 85,814,774 (GRCm39) I240V probably benign Het
Wdr17 T C 8: 55,125,585 (GRCm39) T432A probably damaging 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
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
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
Posted On 2013-10-07