Incidental Mutation 'IGL01017:Ambn'
ID 53582
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: 0.156) question?
Stock # IGL01017
Quality Score
Status
Chromosome 5
Chromosomal Location 88603850-88616390 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 88607218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 29 (A29T)
Ref Sequence ENSEMBL: ENSMUSP00000142944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031226] [ENSMUST00000198265]
AlphaFold O55189
Predicted Effect possibly damaging
Transcript: ENSMUST00000031226
AA Change: A29T

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031226
Gene: ENSMUSG00000029288
AA Change: A29T

DomainStartEndE-ValueType
Amelin 11 407 7.19e-250 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000198265
AA Change: A29T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142944
Gene: ENSMUSG00000029288
AA Change: A29T

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd11 T C 8: 123,621,467 (GRCm39) K795R probably damaging Het
Atg3 T C 16: 45,004,174 (GRCm39) probably null Het
Ccdc169 T C 3: 55,078,739 (GRCm39) V200A possibly damaging Het
Cdr2l C A 11: 115,283,564 (GRCm39) Q141K probably damaging Het
Cts3 T A 13: 61,715,988 (GRCm39) I93F probably damaging Het
Eif2ak2 A G 17: 79,171,287 (GRCm39) L372S probably damaging Het
Elovl5 T C 9: 77,888,853 (GRCm39) I240T possibly damaging Het
Farp1 C T 14: 121,510,186 (GRCm39) A728V possibly damaging Het
Fbln1 A G 15: 85,128,390 (GRCm39) D529G possibly damaging Het
Flnb G T 14: 7,917,390 (GRCm38) probably benign Het
Gm14401 A T 2: 176,778,625 (GRCm39) H237L probably damaging Het
Hivep3 T A 4: 119,956,443 (GRCm39) H1586Q probably damaging Het
Igkv12-98 T A 6: 68,548,093 (GRCm39) L74* probably null Het
Iigp1c T A 18: 60,378,508 (GRCm39) D14E possibly damaging Het
Ktn1 T C 14: 47,946,335 (GRCm39) S917P probably benign Het
Lama3 T C 18: 12,574,200 (GRCm39) probably null Het
Lamb1 A G 12: 31,351,063 (GRCm39) D723G possibly damaging Het
Lrrc39 A T 3: 116,364,500 (GRCm39) R130S probably benign Het
Mcm3 A C 1: 20,875,039 (GRCm39) probably null Het
Muc19 T G 15: 91,764,901 (GRCm39) noncoding transcript Het
Necap2 A G 4: 140,794,879 (GRCm39) F266S probably damaging Het
Nfil3 C T 13: 53,122,055 (GRCm39) G283D probably damaging Het
Nlrp4e A T 7: 23,021,092 (GRCm39) K526N possibly damaging Het
Or13a20 A G 7: 140,232,389 (GRCm39) T166A probably benign Het
Or4p7 T A 2: 88,222,245 (GRCm39) V218E possibly damaging Het
Pelp1 G A 11: 70,287,720 (GRCm39) R401W probably damaging Het
Phldb3 G T 7: 24,328,295 (GRCm39) C613F probably damaging Het
Ppp1ca T C 19: 4,243,110 (GRCm39) Y93H probably damaging Het
Ppp1r3b A G 8: 35,851,476 (GRCm39) E105G probably benign Het
Prb1a G T 6: 132,184,194 (GRCm39) Q480K unknown Het
Ryr1 A T 7: 28,781,968 (GRCm39) I2007N probably damaging Het
Scgb1b27 A G 7: 33,721,228 (GRCm39) T39A probably damaging Het
Serpinb3b T C 1: 107,082,187 (GRCm39) D359G probably benign Het
Sgo2b G T 8: 64,379,557 (GRCm39) R1092S probably benign Het
Sh3pxd2b C A 11: 32,353,993 (GRCm39) S187* probably null Het
Slc11a1 T A 1: 74,418,955 (GRCm39) L92H probably damaging Het
Smc3 T C 19: 53,617,758 (GRCm39) V585A probably damaging Het
Sp6 A G 11: 96,913,429 (GRCm39) probably benign Het
Spata16 A T 3: 26,894,871 (GRCm39) I307F possibly damaging Het
Tfpi2 T A 6: 3,965,359 (GRCm39) H33L probably benign Het
Tnxb T A 17: 34,912,782 (GRCm39) D1642E probably damaging Het
Ttc1 T C 11: 43,621,320 (GRCm39) N287S probably damaging Het
Ttc9 G A 12: 81,678,536 (GRCm39) V120I possibly damaging Het
Umps A G 16: 33,787,272 (GRCm39) V27A probably damaging Het
Usp50 C A 2: 126,551,334 (GRCm39) M48I probably damaging Het
Vmn1r76 A T 7: 11,664,309 (GRCm39) C267S possibly damaging Het
Wee1 A T 7: 109,725,055 (GRCm39) D275V possibly damaging Het
Zmym6 C T 4: 126,982,152 (GRCm39) P63L probably benign Het
Other mutations in Ambn
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-06-28