Incidental Mutation 'R5755:Ambn'
ID |
462621 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ambn
|
Ensembl Gene |
ENSMUSG00000029288 |
Gene Name |
ameloblastin |
Synonyms |
|
MMRRC Submission |
043202-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.174)
|
Stock # |
R5755 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
88603850-88616390 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 88612350 bp (GRCm39)
|
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 null
Transcript: ENSMUST00000031226
|
SMART Domains |
Protein: ENSMUSP00000031226 Gene: ENSMUSG00000029288
Domain | Start | End | E-Value | Type |
Amelin
|
11 |
407 |
7.19e-250 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000198265
|
SMART Domains |
Protein: ENSMUSP00000142944 Gene: ENSMUSG00000029288
Domain | Start | End | E-Value | Type |
Amelin
|
11 |
422 |
8.22e-268 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,617,428 (GRCm39) |
F1042I |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,979,096 (GRCm39) |
T127A |
probably benign |
Het |
Aloxe3 |
A |
G |
11: 69,023,575 (GRCm39) |
I233V |
probably benign |
Het |
Atp2b1 |
A |
G |
10: 98,839,032 (GRCm39) |
E39G |
probably damaging |
Het |
Atp2b1 |
T |
C |
10: 98,830,671 (GRCm39) |
|
probably null |
Het |
Camsap2 |
C |
T |
1: 136,210,065 (GRCm39) |
G476R |
probably damaging |
Het |
Cdk4 |
T |
A |
10: 126,900,591 (GRCm39) |
|
probably null |
Het |
Dcaf12 |
T |
C |
4: 41,313,356 (GRCm39) |
Y63C |
probably damaging |
Het |
Dtna |
T |
A |
18: 23,754,520 (GRCm39) |
S445T |
probably benign |
Het |
Ehmt2 |
T |
C |
17: 35,127,214 (GRCm39) |
M109T |
probably benign |
Het |
Erbb4 |
T |
C |
1: 68,599,678 (GRCm39) |
E133G |
possibly damaging |
Het |
F830016B08Rik |
T |
A |
18: 60,433,878 (GRCm39) |
F320L |
probably damaging |
Het |
Fyco1 |
A |
G |
9: 123,657,773 (GRCm39) |
V801A |
possibly damaging |
Het |
Gm57858 |
A |
T |
3: 36,071,842 (GRCm39) |
M501K |
probably benign |
Het |
Jag1 |
T |
A |
2: 136,930,610 (GRCm39) |
N674Y |
probably damaging |
Het |
Kcnj10 |
A |
G |
1: 172,197,161 (GRCm39) |
E225G |
possibly damaging |
Het |
Klhl11 |
T |
A |
11: 100,355,177 (GRCm39) |
M215L |
probably benign |
Het |
Kmt2d |
G |
T |
15: 98,761,527 (GRCm39) |
P608T |
unknown |
Het |
Map3k19 |
T |
C |
1: 127,750,118 (GRCm39) |
M1078V |
probably benign |
Het |
Neto1 |
T |
C |
18: 86,517,219 (GRCm39) |
V512A |
probably damaging |
Het |
Notch1 |
T |
C |
2: 26,363,704 (GRCm39) |
D910G |
probably benign |
Het |
Or1e19 |
T |
A |
11: 73,316,557 (GRCm39) |
N84I |
probably benign |
Het |
Or2w1 |
T |
A |
13: 21,317,695 (GRCm39) |
I250K |
probably damaging |
Het |
Parvg |
T |
C |
15: 84,215,297 (GRCm39) |
|
probably null |
Het |
Pi4kb |
A |
T |
3: 94,901,608 (GRCm39) |
|
probably null |
Het |
Plag1 |
T |
C |
4: 3,904,492 (GRCm39) |
K233R |
possibly damaging |
Het |
Polr1h |
T |
A |
17: 37,269,049 (GRCm39) |
D43V |
probably benign |
Het |
Rasgrp3 |
A |
C |
17: 75,831,940 (GRCm39) |
D587A |
probably benign |
Het |
Slc7a10 |
A |
T |
7: 34,898,336 (GRCm39) |
I336F |
probably damaging |
Het |
Snx8 |
T |
G |
5: 140,338,796 (GRCm39) |
E254A |
possibly damaging |
Het |
Sp3 |
A |
T |
2: 72,768,725 (GRCm39) |
|
silent |
Het |
Sp8 |
G |
T |
12: 118,812,822 (GRCm39) |
A226S |
probably damaging |
Het |
Spata31d1c |
C |
A |
13: 65,184,341 (GRCm39) |
Q628K |
probably benign |
Het |
Styx |
C |
A |
14: 45,605,910 (GRCm39) |
T138K |
probably benign |
Het |
Syngr3 |
A |
G |
17: 24,905,509 (GRCm39) |
F155S |
probably damaging |
Het |
Trip11 |
C |
T |
12: 101,851,924 (GRCm39) |
W428* |
probably null |
Het |
Ubr4 |
A |
G |
4: 139,187,406 (GRCm39) |
T3825A |
possibly damaging |
Het |
Vmn2r113 |
A |
T |
17: 23,176,955 (GRCm39) |
T580S |
probably benign |
Het |
Zbtb11 |
T |
A |
16: 55,821,076 (GRCm39) |
S724R |
probably benign |
Het |
Zcchc4 |
T |
C |
5: 52,973,511 (GRCm39) |
S379P |
probably benign |
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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACTGGAGCCATGTCAATATAAGAC -3'
(R):5'- GACTTTTAAGAGTTCCAGGAACAC -3'
Sequencing Primer
(F):5'- CACAAACTAGAGGTGTACTC -3'
(R):5'- GATTGATTAGTGTGAAAACTTAGCAC -3'
|
Posted On |
2017-03-01 |