Incidental Mutation 'IGL00832:Amtn'
| ID |
8832 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Amtn
|
| Ensembl Gene |
ENSMUSG00000029282 |
| Gene Name |
amelotin |
| Synonyms |
5430427O21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
IGL00832
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
88523967-88533775 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 88532908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 174
(H174Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073363]
|
| AlphaFold |
Q9D3J8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073363
AA Change: H174Q
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000073081
Gene: ENSMUSG00000029282
AA Change: H174Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Amelotin
|
17 |
211 |
2e-96 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enamel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed 16304441]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enamel hypomineralization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,209,193 (GRCm39) |
Y407C |
probably damaging |
Het |
| Cdon |
T |
A |
9: 35,389,412 (GRCm39) |
I839N |
probably damaging |
Het |
| Ces2g |
A |
G |
8: 105,694,471 (GRCm39) |
|
probably benign |
Het |
| Cgas |
A |
T |
9: 78,341,599 (GRCm39) |
C393S |
probably damaging |
Het |
| Colq |
G |
T |
14: 31,250,303 (GRCm39) |
C367* |
probably null |
Het |
| Dop1b |
T |
C |
16: 93,560,289 (GRCm39) |
V745A |
probably benign |
Het |
| E2f8 |
C |
T |
7: 48,517,951 (GRCm39) |
G657D |
probably damaging |
Het |
| Gpcpd1 |
G |
A |
2: 132,388,770 (GRCm39) |
T334M |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,614,558 (GRCm39) |
D494G |
probably damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,253,632 (GRCm39) |
|
probably benign |
Het |
| Gtf3c2 |
G |
A |
5: 31,330,349 (GRCm39) |
|
probably benign |
Het |
| Hnf4g |
G |
A |
3: 3,706,336 (GRCm39) |
C77Y |
probably damaging |
Het |
| Ido1 |
G |
A |
8: 25,074,575 (GRCm39) |
T265I |
possibly damaging |
Het |
| Ifih1 |
A |
G |
2: 62,475,814 (GRCm39) |
|
probably benign |
Het |
| Itga6 |
A |
G |
2: 71,668,606 (GRCm39) |
|
probably null |
Het |
| Kctd10 |
C |
A |
5: 114,506,997 (GRCm39) |
|
probably null |
Het |
| Ltk |
A |
T |
2: 119,586,086 (GRCm39) |
|
probably benign |
Het |
| Luc7l3 |
T |
C |
11: 94,194,768 (GRCm39) |
D84G |
probably benign |
Het |
| Mc3r |
A |
T |
2: 172,090,948 (GRCm39) |
I57F |
possibly damaging |
Het |
| Mmp1b |
T |
A |
9: 7,387,023 (GRCm39) |
Q63L |
possibly damaging |
Het |
| Ncr1 |
C |
A |
7: 4,344,287 (GRCm39) |
T225N |
possibly damaging |
Het |
| Nf2 |
T |
C |
11: 4,741,123 (GRCm39) |
K364E |
probably benign |
Het |
| Ppl |
A |
T |
16: 4,906,839 (GRCm39) |
L1152H |
probably damaging |
Het |
| Primpol |
A |
G |
8: 47,034,632 (GRCm39) |
V432A |
probably damaging |
Het |
| Rbl2 |
A |
G |
8: 91,812,073 (GRCm39) |
D214G |
probably damaging |
Het |
| Rxfp2 |
A |
T |
5: 149,989,893 (GRCm39) |
M425L |
probably benign |
Het |
| Slc5a3 |
T |
C |
16: 91,874,519 (GRCm39) |
M192T |
probably damaging |
Het |
| Tbx18 |
T |
A |
9: 87,587,714 (GRCm39) |
S468C |
probably damaging |
Het |
| Tex10 |
T |
C |
4: 48,468,864 (GRCm39) |
T104A |
probably benign |
Het |
| Unc13b |
T |
G |
4: 43,258,921 (GRCm39) |
V4153G |
probably damaging |
Het |
| Vmn1r188 |
A |
G |
13: 22,272,351 (GRCm39) |
T102A |
probably damaging |
Het |
|
| Other mutations in Amtn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02424:Amtn
|
APN |
5 |
88,529,456 (GRCm39) |
splice site |
probably benign |
|
|
IGL02851:Amtn
|
APN |
5 |
88,529,481 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL03085:Amtn
|
APN |
5 |
88,529,501 (GRCm39) |
splice site |
probably benign |
|
|
IGL03106:Amtn
|
APN |
5 |
88,525,944 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL03153:Amtn
|
APN |
5 |
88,532,828 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0762:Amtn
|
UTSW |
5 |
88,532,859 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1537:Amtn
|
UTSW |
5 |
88,526,729 (GRCm39) |
missense |
probably null |
0.32 |
|
R5436:Amtn
|
UTSW |
5 |
88,529,485 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5696:Amtn
|
UTSW |
5 |
88,532,944 (GRCm39) |
nonsense |
probably null |
|
|
R6455:Amtn
|
UTSW |
5 |
88,528,139 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6830:Amtn
|
UTSW |
5 |
88,525,956 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7528:Amtn
|
UTSW |
5 |
88,526,711 (GRCm39) |
splice site |
probably null |
|
|
R9621:Amtn
|
UTSW |
5 |
88,528,205 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0065:Amtn
|
UTSW |
5 |
88,525,956 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2012-12-06 |
Incidental Mutation