Incidental Mutation 'IGL02743:Ambn'
| ID |
305975 |
| 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)
|
| Stock # |
IGL02743
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
88603850-88616390 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 88612343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 188
(D188A)
|
| 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: D173A
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031226
Gene: ENSMUSG00000029288
AA Change: D173A
| Domain | Start | End | E-Value | Type |
|---|
|
Amelin
|
11 |
407 |
7.19e-250 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198265
AA Change: D188A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142944
Gene: ENSMUSG00000029288
AA Change: D188A
| Domain | Start | End | E-Value | Type |
|---|
|
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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef1 |
T |
C |
1: 10,270,054 (GRCm39) |
E365G |
probably benign |
Het |
| Arhgef10 |
C |
T |
8: 14,980,198 (GRCm39) |
A146V |
probably benign |
Het |
| AW554918 |
C |
T |
18: 25,423,001 (GRCm39) |
Q151* |
probably null |
Het |
| Chd6 |
T |
C |
2: 160,802,183 (GRCm39) |
D2217G |
probably damaging |
Het |
| Cntn5 |
T |
A |
9: 9,984,115 (GRCm39) |
E166V |
probably damaging |
Het |
| Cyp4f15 |
T |
C |
17: 32,918,926 (GRCm39) |
S319P |
possibly damaging |
Het |
| Dna2 |
G |
A |
10: 62,792,821 (GRCm39) |
V279I |
possibly damaging |
Het |
| Edrf1 |
A |
G |
7: 133,258,220 (GRCm39) |
|
probably benign |
Het |
| Fmo3 |
A |
T |
1: 162,786,052 (GRCm39) |
F313I |
probably damaging |
Het |
| Kcnj10 |
A |
G |
1: 172,197,221 (GRCm39) |
D245G |
possibly damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,818,661 (GRCm39) |
|
probably null |
Het |
| Mfn1 |
A |
T |
3: 32,628,439 (GRCm39) |
H690L |
probably benign |
Het |
| Msh2 |
T |
C |
17: 88,014,643 (GRCm39) |
F474L |
probably damaging |
Het |
| Nlrp4a |
T |
G |
7: 26,159,240 (GRCm39) |
|
probably benign |
Het |
| Or2t44 |
T |
A |
11: 58,677,606 (GRCm39) |
L182* |
probably null |
Het |
| Or4d10b |
A |
G |
19: 12,036,811 (GRCm39) |
F102L |
probably damaging |
Het |
| Or4k45 |
T |
A |
2: 111,394,888 (GRCm39) |
R300S |
possibly damaging |
Het |
| Or51f5 |
T |
A |
7: 102,424,505 (GRCm39) |
I258N |
probably damaging |
Het |
| Or52n2c |
T |
C |
7: 104,574,075 (GRCm39) |
T299A |
probably damaging |
Het |
| Or8g35 |
G |
A |
9: 39,381,542 (GRCm39) |
T160I |
probably benign |
Het |
| Plcxd3 |
G |
A |
15: 4,604,285 (GRCm39) |
V298I |
possibly damaging |
Het |
| Prrc2b |
C |
T |
2: 32,084,441 (GRCm39) |
S302F |
probably damaging |
Het |
| Serpine2 |
A |
T |
1: 79,779,272 (GRCm39) |
F149I |
probably damaging |
Het |
| Slc24a5 |
T |
C |
2: 124,930,154 (GRCm39) |
L485P |
probably damaging |
Het |
| Spg11 |
T |
A |
2: 121,889,988 (GRCm39) |
H2118L |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stxbp1 |
T |
C |
2: 32,709,913 (GRCm39) |
D60G |
probably damaging |
Het |
| Themis2 |
T |
A |
4: 132,510,795 (GRCm39) |
E582D |
probably benign |
Het |
| Tmem131 |
T |
G |
1: 36,832,232 (GRCm39) |
I1802L |
probably benign |
Het |
| Tnrc6a |
A |
G |
7: 122,770,696 (GRCm39) |
K829E |
probably damaging |
Het |
| Usp8 |
T |
C |
2: 126,575,943 (GRCm39) |
M213T |
probably damaging |
Het |
| Wnk2 |
A |
G |
13: 49,248,920 (GRCm39) |
V377A |
probably damaging |
Het |
| Wwox |
T |
G |
8: 116,078,443 (GRCm39) |
Y375D |
probably damaging |
Het |
|
| Other mutations in Ambn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
2015-04-16 |
Incidental Mutation