Incidental Mutation 'R5970:Ambn'
ID 470792
Institutional Source Beutler Lab
Gene Symbol Ambn
Ensembl Gene ENSMUSG00000029288
Gene Name ameloblastin
MMRRC Submission 044153-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.192) question?
Stock # R5970 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 88455991-88468531 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88467951 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 413 (V413A)
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: V398A

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031226
Gene: ENSMUSG00000029288
AA Change: V398A

Amelin 11 407 7.19e-250 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000198265
AA Change: V413A

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142944
Gene: ENSMUSG00000029288
AA Change: V413A

Amelin 11 422 8.22e-268 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l1 G A 6: 90,597,046 (GRCm38) probably benign Het
Amotl1 T A 9: 14,596,528 (GRCm38) D41V probably damaging Het
Arhgef26 T C 3: 62,340,047 (GRCm38) V184A probably benign Het
Birc6 G T 17: 74,618,502 (GRCm38) G936V possibly damaging Het
Ccser1 T A 6: 61,311,242 (GRCm38) S130T possibly damaging Het
Cecr2 A G 6: 120,720,907 (GRCm38) I56V probably damaging Het
Cfap52 A G 11: 67,930,744 (GRCm38) I486T probably damaging Het
Col4a3 A G 1: 82,716,329 (GRCm38) I1557V possibly damaging Het
Col6a5 T A 9: 105,945,847 (GRCm38) I104F unknown Het
Cry2 A G 2: 92,412,967 (GRCm38) S510P probably benign Het
Csmd2 G C 4: 128,546,151 (GRCm38) A3133P probably benign Het
Cyld G T 8: 88,732,993 (GRCm38) A611S probably damaging Het
Dennd4c G A 4: 86,825,512 (GRCm38) G1197E probably damaging Het
Dnah10 T C 5: 124,808,729 (GRCm38) F2969L probably benign Het
Dnaic1 A G 4: 41,625,281 (GRCm38) K415R probably benign Het
Dnmbp T A 19: 43,854,171 (GRCm38) T1253S probably benign Het
Dsp T C 13: 38,195,702 (GRCm38) L1542P possibly damaging Het
Duox1 T A 2: 122,340,201 (GRCm38) L1234Q probably damaging Het
Efr3b T A 12: 3,968,590 (GRCm38) R585S possibly damaging Het
Gpt A G 15: 76,699,352 (GRCm38) probably null Het
Heatr6 G A 11: 83,753,718 (GRCm38) probably benign Het
Kcns2 A G 15: 34,839,784 (GRCm38) D431G probably benign Het
Kdm3b A G 18: 34,829,289 (GRCm38) N1543D probably damaging Het
Man2a1 A G 17: 64,625,380 (GRCm38) K154R probably benign Het
Mical3 G A 6: 120,958,271 (GRCm38) Q893* probably null Het
Morc3 C T 16: 93,866,453 (GRCm38) H515Y possibly damaging Het
Mprip A T 11: 59,757,721 (GRCm38) R750S probably damaging Het
Mroh1 G A 15: 76,451,491 (GRCm38) V1436M probably benign Het
Muc5ac C T 7: 141,790,669 (GRCm38) R69* probably null Het
Muc5b A T 7: 141,856,712 (GRCm38) Y1274F unknown Het
Mybpc1 A G 10: 88,542,456 (GRCm38) L674P probably damaging Het
Mypn A G 10: 63,131,023 (GRCm38) V958A probably benign Het
Nipbl T C 15: 8,296,818 (GRCm38) T2436A probably benign Het
Olfr835 A G 9: 19,035,147 (GRCm38) D8G probably benign Het
Pcdhb5 T A 18: 37,321,773 (GRCm38) L402Q probably damaging Het
Pigp T A 16: 94,370,194 (GRCm38) probably null Het
Rp1 A G 1: 4,348,462 (GRCm38) L809P probably benign Het
Scn3a T A 2: 65,494,781 (GRCm38) probably benign Het
Sdf2 A T 11: 78,246,080 (GRCm38) M29L probably benign Het
Serpina3b T G 12: 104,134,091 (GRCm38) L311V possibly damaging Het
Snx31 A T 15: 36,523,488 (GRCm38) Y349* probably null Het
Spidr A C 16: 16,114,869 (GRCm38) C182W probably damaging Het
St13 A T 15: 81,377,798 (GRCm38) S146R probably damaging Het
St8sia4 A G 1: 95,653,582 (GRCm38) V145A probably damaging Het
Stradb T C 1: 58,980,016 (GRCm38) probably null Het
Tcp11l2 T A 10: 84,594,797 (GRCm38) probably benign Het
Tfdp2 C T 9: 96,317,574 (GRCm38) P74S unknown Het
Tmprss15 C T 16: 79,057,659 (GRCm38) R287H probably benign Het
Trav10d T C 14: 52,811,322 (GRCm38) Y57H probably damaging Het
Vmn2r104 A G 17: 20,029,471 (GRCm38) I846T probably benign Het
Ywhah T A 5: 33,026,948 (GRCm38) M165K possibly damaging Het
Zfp324 C A 7: 12,969,366 (GRCm38) P72T probably benign Het
Other mutations in Ambn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Ambn APN 5 88,459,359 (GRCm38) missense probably damaging 0.99
IGL01139:Ambn APN 5 88,464,517 (GRCm38) splice site probably benign
IGL01318:Ambn APN 5 88,460,695 (GRCm38) splice site probably benign
IGL02139:Ambn APN 5 88,465,290 (GRCm38) missense probably benign
IGL02261:Ambn APN 5 88,456,948 (GRCm38) missense probably damaging 1.00
IGL02743:Ambn APN 5 88,464,484 (GRCm38) missense probably damaging 0.99
IGL03329:Ambn APN 5 88,461,668 (GRCm38) missense probably benign 0.34
R0242:Ambn UTSW 5 88,467,972 (GRCm38) missense possibly damaging 0.85
R0242:Ambn UTSW 5 88,467,972 (GRCm38) missense possibly damaging 0.85
R0563:Ambn UTSW 5 88,463,450 (GRCm38) missense probably benign 0.28
R1649:Ambn UTSW 5 88,464,481 (GRCm38) missense probably benign 0.16
R2118:Ambn UTSW 5 88,460,758 (GRCm38) splice site probably benign
R2121:Ambn UTSW 5 88,460,758 (GRCm38) splice site probably benign
R2124:Ambn UTSW 5 88,460,758 (GRCm38) splice site probably benign
R2495:Ambn UTSW 5 88,467,804 (GRCm38) missense probably benign 0.05
R2877:Ambn UTSW 5 88,460,700 (GRCm38) splice site probably benign
R3779:Ambn UTSW 5 88,465,342 (GRCm38) splice site probably benign
R4760:Ambn UTSW 5 88,467,707 (GRCm38) missense probably damaging 1.00
R5422:Ambn UTSW 5 88,464,511 (GRCm38) critical splice donor site probably null
R5755:Ambn UTSW 5 88,464,491 (GRCm38) splice site probably null
R5883:Ambn UTSW 5 88,467,829 (GRCm38) nonsense probably null
R6846:Ambn UTSW 5 88,461,715 (GRCm38) missense possibly damaging 0.65
R7166:Ambn UTSW 5 88,467,528 (GRCm38) missense possibly damaging 0.94
R7500:Ambn UTSW 5 88,461,634 (GRCm38) missense possibly damaging 0.95
R7809:Ambn UTSW 5 88,467,824 (GRCm38) missense probably benign 0.00
R8306:Ambn UTSW 5 88,459,422 (GRCm38) missense possibly damaging 0.95
R8898:Ambn UTSW 5 88,465,192 (GRCm38) critical splice donor site probably null
R9481:Ambn UTSW 5 88,465,191 (GRCm38) critical splice donor site probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-03-31