Incidental Mutation 'R2124:Ambn'
ID 229648
Institutional Source Beutler Lab
Gene Symbol Ambn
Ensembl Gene ENSMUSG00000029288
Gene Name ameloblastin
MMRRC Submission 040127-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.192) question?
Stock # R2124 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 88455991-88468531 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 88460758 bp (GRCm38)
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

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

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% (80/82)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T A 4: 62,538,872 (GRCm38) L143M possibly damaging Het
Abca13 T C 11: 9,309,013 (GRCm38) probably benign Het
Abcg5 T A 17: 84,671,147 (GRCm38) E294D probably benign Het
Adgrg6 T C 10: 14,467,186 (GRCm38) D339G probably damaging Het
Ahctf1 C A 1: 179,769,452 (GRCm38) R43L probably damaging Het
Arap3 A C 18: 37,973,350 (GRCm38) L1480R probably damaging Het
Arhgef10 A G 8: 14,934,820 (GRCm38) D200G probably damaging Het
Aspg G A 12: 112,121,174 (GRCm38) V8I probably benign Het
Aven T A 2: 112,625,196 (GRCm38) W26R probably damaging Het
Car4 T A 11: 84,964,085 (GRCm38) probably benign Het
Cd163 C T 6: 124,318,856 (GRCm38) R720C probably damaging Het
Cdh1 A G 8: 106,664,210 (GRCm38) I653V probably benign Het
Cdh3 A T 8: 106,552,888 (GRCm38) H712L probably damaging Het
Cdr2 T C 7: 120,982,027 (GRCm38) E9G probably damaging Het
Chrnb2 T C 3: 89,769,341 (GRCm38) probably benign Het
Col4a2 C A 8: 11,416,070 (GRCm38) P443Q probably damaging Het
Cyp2a12 A G 7: 27,036,646 (GRCm38) *493W probably null Het
Ddias T C 7: 92,858,256 (GRCm38) Q817R probably benign Het
Ddx6 C T 9: 44,624,519 (GRCm38) Q182* probably null Het
Dhrs7 A G 12: 72,653,177 (GRCm38) I227T probably damaging Het
Dhx8 A T 11: 101,762,245 (GRCm38) M970L probably damaging Het
Dnah7a A T 1: 53,496,942 (GRCm38) D2647E possibly damaging Het
Dstyk G A 1: 132,453,119 (GRCm38) G451R possibly damaging Het
Ednrb T A 14: 103,821,768 (GRCm38) D274V probably benign Het
Efl1 C T 7: 82,692,913 (GRCm38) R510C probably damaging Het
Eif4g3 A G 4: 138,184,742 (GRCm38) E1409G probably damaging Het
Fam78b G A 1: 167,078,709 (GRCm38) V146M probably damaging Het
Fcgbp T C 7: 28,092,019 (GRCm38) Y902H probably benign Het
Fgf18 A C 11: 33,118,003 (GRCm38) F129C probably damaging Het
Gbp9 T A 5: 105,094,543 (GRCm38) D110V probably damaging Het
Gm10477 A G X: 56,524,832 (GRCm38) K31E probably damaging Het
Gm10542 T A 18: 44,201,288 (GRCm38) W9R probably null Het
Gm7173 T C X: 79,510,321 (GRCm38) I267V probably benign Het
Gpaa1 A G 15: 76,333,352 (GRCm38) Y330C probably damaging Het
Hectd4 T C 5: 121,318,639 (GRCm38) L689P probably damaging Het
Hoxd3 C A 2: 74,744,234 (GRCm38) P75T possibly damaging Het
Ikbkb A G 8: 22,666,020 (GRCm38) L570P probably damaging Het
Ikbkb T C 8: 22,667,217 (GRCm38) probably benign Het
Il1rap A T 16: 26,710,565 (GRCm38) H379L probably damaging Het
Ints6l T A X: 56,504,868 (GRCm38) S718T probably benign Het
Jaml T A 9: 45,101,064 (GRCm38) I283N probably damaging Het
Kidins220 G A 12: 25,041,303 (GRCm38) probably null Het
Kif1b T C 4: 149,222,296 (GRCm38) D869G probably benign Het
Loxl2 T C 14: 69,692,410 (GRCm38) Y746H probably benign Het
Ltbr A G 6: 125,309,477 (GRCm38) S249P probably benign Het
Mageb5 A G X: 91,780,095 (GRCm38) I226T probably damaging Het
Msantd2 C T 9: 37,522,931 (GRCm38) R357W probably damaging Het
Neb A G 2: 52,264,064 (GRCm38) F2345S probably damaging Het
Olfr866 T G 9: 20,027,501 (GRCm38) I146L probably benign Het
Pabpc4l T C 3: 46,446,841 (GRCm38) T123A probably benign Het
Plekhg4 TAGTCGATGCCCGAGTC TAGTC 8: 105,376,452 (GRCm38) probably benign Het
Prkdc T C 16: 15,719,433 (GRCm38) V1716A probably benign Het
Prss37 G A 6: 40,515,360 (GRCm38) R186* probably null Het
Psg20 T A 7: 18,681,022 (GRCm38) Y316F probably benign Het
Rasgrp2 T A 19: 6,404,395 (GRCm38) M156K probably benign Het
Rims1 T A 1: 22,404,508 (GRCm38) R200* probably null Het
Rnf168 T G 16: 32,278,218 (GRCm38) L37R probably damaging Het
Sall3 C T 18: 80,971,797 (GRCm38) G972D probably benign Het
Sap18 T A 14: 57,798,554 (GRCm38) S66T probably damaging Het
Scamp5 C A 9: 57,447,225 (GRCm38) V49F possibly damaging Het
Sdk1 C A 5: 142,185,188 (GRCm38) D1935E possibly damaging Het
Setd2 A G 9: 110,549,864 (GRCm38) S632G probably benign Het
Soga1 T C 2: 157,033,325 (GRCm38) E835G probably damaging Het
Syt16 T A 12: 74,238,235 (GRCm38) S401T probably damaging Het
Tas2r106 A T 6: 131,678,354 (GRCm38) L178H probably damaging Het
Tbcd A G 11: 121,603,320 (GRCm38) Y983C probably damaging Het
Tenm3 A G 8: 48,417,006 (GRCm38) probably null Het
Tll1 T C 8: 64,085,557 (GRCm38) E351G probably benign Het
Tmem44 T A 16: 30,547,444 (GRCm38) K55* probably null Het
Top2a T C 11: 99,004,228 (GRCm38) I849V probably benign Het
Ttn A G 2: 76,794,448 (GRCm38) V13516A probably damaging Het
Uxs1 A G 1: 43,774,846 (GRCm38) L77P probably damaging Het
Vmn2r121 A T X: 124,133,742 (GRCm38) probably null Het
Vmn2r84 A C 10: 130,391,231 (GRCm38) M246R probably damaging Het
Vps13b T A 15: 35,646,080 (GRCm38) N1443K probably benign Het
Wfdc6b C T 2: 164,617,443 (GRCm38) R142C probably benign Het
Zfp616 A G 11: 74,083,043 (GRCm38) probably null Het
Zmym1 T C 4: 127,049,570 (GRCm38) T244A 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
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
R5970:Ambn UTSW 5 88,467,951 (GRCm38) missense possibly damaging 0.88
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 2014-09-17