Incidental Mutation 'R0548:Enam'
| ID |
44963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Enam
|
| Ensembl Gene |
ENSMUSG00000029286 |
| Gene Name |
enamelin |
| Synonyms |
abte |
| MMRRC Submission |
038740-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.222)
|
| Stock # |
R0548 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
88635834-88653908 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88650964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 824
(E824D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031222]
[ENSMUST00000199104]
|
| AlphaFold |
O55196 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031222
AA Change: E749D
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000031222
Gene: ENSMUSG00000029286
AA Change: E749D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
187 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
214 |
N/A |
INTRINSIC |
|
Pfam:Enamelin
|
216 |
441 |
5.4e-74 |
PFAM |
|
Pfam:Enamelin
|
503 |
1249 |
1.9e-303 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199104
AA Change: E824D
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142854
Gene: ENSMUSG00000029286
AA Change: E824D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
289 |
N/A |
INTRINSIC |
|
Pfam:Enamelin
|
291 |
510 |
2.5e-74 |
PFAM |
|
Pfam:Enamelin
|
550 |
1325 |
N/A |
PFAM |
|
| Meta Mutation Damage Score |
0.0929 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
97% (62/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene encodes the largest protein in the enamel matrix of developing teeth. The protein is involved in the mineralization and structural organization of enamel. Defects in this gene result in amelogenesis imperfect type 1C.[provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous null mice lack true enamel due to loss of mineralization at the secretory surface of ameloblasts and mandibular incisors are opaque with a rough surface and abnormal wear on the incisal edge. ENU-induced mutant mice provide models for various clinical subtypes of amelogenesis imperfecta. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
T |
G |
8: 41,279,504 (GRCm39) |
C632G |
probably damaging |
Het |
| Adamtsl3 |
T |
C |
7: 82,178,191 (GRCm39) |
|
probably null |
Het |
| Agfg1 |
A |
G |
1: 82,864,152 (GRCm39) |
T447A |
probably damaging |
Het |
| Ankrd37 |
C |
T |
8: 46,451,433 (GRCm39) |
|
probably null |
Het |
| Apob |
A |
T |
12: 8,056,282 (GRCm39) |
D1555V |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,654,849 (GRCm39) |
|
probably benign |
Het |
| Brca2 |
C |
A |
5: 150,468,400 (GRCm39) |
D2242E |
probably damaging |
Het |
| Car5b |
G |
A |
X: 162,762,297 (GRCm39) |
R282C |
probably damaging |
Het |
| Cdk5rap2 |
A |
T |
4: 70,267,379 (GRCm39) |
|
probably null |
Het |
| Cox10 |
A |
T |
11: 63,867,178 (GRCm39) |
Y273N |
probably damaging |
Het |
| Dcbld2 |
A |
T |
16: 58,275,508 (GRCm39) |
D408V |
probably damaging |
Het |
| Epm2aip1 |
T |
C |
9: 111,102,409 (GRCm39) |
Y461H |
probably damaging |
Het |
| Fam72a |
T |
A |
1: 131,461,599 (GRCm39) |
S95T |
probably damaging |
Het |
| Fiz1 |
A |
T |
7: 5,012,167 (GRCm39) |
V117D |
possibly damaging |
Het |
| Gm10355 |
C |
T |
3: 101,214,376 (GRCm39) |
|
noncoding transcript |
Het |
| Gm11595 |
A |
T |
11: 99,662,967 (GRCm39) |
C238S |
unknown |
Het |
| Gm7589 |
T |
G |
9: 59,053,439 (GRCm39) |
|
noncoding transcript |
Het |
| H6pd |
A |
T |
4: 150,066,073 (GRCm39) |
V771E |
probably damaging |
Het |
| Htt |
T |
C |
5: 35,028,090 (GRCm39) |
L1782P |
probably damaging |
Het |
| Il33 |
T |
C |
19: 29,932,047 (GRCm39) |
S147P |
probably benign |
Het |
| Lct |
T |
C |
1: 128,212,932 (GRCm39) |
Y1907C |
probably damaging |
Het |
| Lrp2 |
G |
A |
2: 69,367,982 (GRCm39) |
|
probably benign |
Het |
| Maco1 |
T |
C |
4: 134,533,971 (GRCm39) |
D550G |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,568,191 (GRCm39) |
K1510R |
unknown |
Het |
| Marco |
T |
C |
1: 120,419,767 (GRCm39) |
T187A |
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,298,637 (GRCm39) |
N2132K |
possibly damaging |
Het |
| Mki67 |
T |
A |
7: 135,296,985 (GRCm39) |
K2683M |
probably damaging |
Het |
| Mmp15 |
T |
C |
8: 96,098,979 (GRCm39) |
V602A |
probably damaging |
Het |
| Mphosph10 |
T |
A |
7: 64,028,548 (GRCm39) |
M536L |
probably benign |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| N4bp2 |
G |
T |
5: 65,965,496 (GRCm39) |
V1182L |
probably benign |
Het |
| Nlrc5 |
C |
A |
8: 95,248,411 (GRCm39) |
F1715L |
probably null |
Het |
| Nsd2 |
T |
A |
5: 34,050,882 (GRCm39) |
V1253E |
probably damaging |
Het |
| Numa1 |
T |
C |
7: 101,644,731 (GRCm39) |
S236P |
possibly damaging |
Het |
| Or2a52 |
T |
A |
6: 43,144,121 (GRCm39) |
I43K |
probably benign |
Het |
| Or4c120 |
C |
A |
2: 89,000,992 (GRCm39) |
C188F |
probably damaging |
Het |
| Or8g18 |
A |
T |
9: 39,149,667 (GRCm39) |
S18T |
probably benign |
Het |
| Padi4 |
GCTGCGTACCTCCAC |
GC |
4: 140,475,760 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,125,582 (GRCm39) |
N4K |
possibly damaging |
Het |
| Plxna4 |
A |
T |
6: 32,134,950 (GRCm39) |
I1751N |
probably damaging |
Het |
| Postn |
C |
A |
3: 54,274,997 (GRCm39) |
S122* |
probably null |
Het |
| Ppp4r4 |
A |
T |
12: 103,579,074 (GRCm39) |
R762* |
probably null |
Het |
| Rrm1 |
G |
T |
7: 102,116,274 (GRCm39) |
|
probably null |
Het |
| Rrp15 |
A |
G |
1: 186,468,431 (GRCm39) |
V195A |
probably benign |
Het |
| Rtl1 |
T |
A |
12: 109,558,089 (GRCm39) |
D1250V |
probably damaging |
Het |
| Rxrg |
T |
C |
1: 167,458,788 (GRCm39) |
|
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,494,994 (GRCm39) |
K416E |
probably benign |
Het |
| Serping1 |
T |
C |
2: 84,600,425 (GRCm39) |
|
probably benign |
Het |
| Slc12a6 |
T |
C |
2: 112,166,269 (GRCm39) |
|
probably null |
Het |
| Smo |
A |
T |
6: 29,759,585 (GRCm39) |
Q639L |
possibly damaging |
Het |
| Synrg |
T |
C |
11: 83,873,014 (GRCm39) |
|
probably benign |
Het |
| Tars2 |
T |
C |
3: 95,649,971 (GRCm39) |
D470G |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,542,709 (GRCm39) |
N1399S |
possibly damaging |
Het |
| Tmem131 |
A |
G |
1: 36,877,119 (GRCm39) |
V240A |
probably damaging |
Het |
| Tmem232 |
G |
A |
17: 65,689,615 (GRCm39) |
T500I |
probably benign |
Het |
| Toporsl |
G |
A |
4: 52,612,140 (GRCm39) |
V678M |
possibly damaging |
Het |
| Vmn1r7 |
A |
T |
6: 57,002,066 (GRCm39) |
F65I |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,764,578 (GRCm39) |
M2257I |
probably benign |
Het |
| Wdr20rt |
T |
A |
12: 65,274,089 (GRCm39) |
D344E |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,344,758 (GRCm39) |
A2333V |
probably benign |
Het |
| Zfyve16 |
T |
C |
13: 92,631,452 (GRCm39) |
K1381R |
probably benign |
Het |
| Zscan18 |
G |
T |
7: 12,508,103 (GRCm39) |
P466T |
probably damaging |
Het |
|
| Other mutations in Enam |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00769:Enam
|
APN |
5 |
88,649,343 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01611:Enam
|
APN |
5 |
88,651,608 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01802:Enam
|
APN |
5 |
88,651,533 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02220:Enam
|
APN |
5 |
88,652,418 (GRCm39) |
nonsense |
probably null |
|
|
IGL02371:Enam
|
APN |
5 |
88,650,668 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02596:Enam
|
APN |
5 |
88,650,885 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03026:Enam
|
APN |
5 |
88,651,158 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL03303:Enam
|
APN |
5 |
88,652,450 (GRCm39) |
missense |
probably benign |
0.12 |
|
opinionated
|
UTSW |
5 |
88,650,885 (GRCm39) |
missense |
probably benign |
0.04 |
|
recalcitrant
|
UTSW |
5 |
88,651,650 (GRCm39) |
nonsense |
probably null |
|
|
R0200:Enam
|
UTSW |
5 |
88,640,886 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0230:Enam
|
UTSW |
5 |
88,637,514 (GRCm39) |
splice site |
probably benign |
|
|
R0395:Enam
|
UTSW |
5 |
88,649,367 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0608:Enam
|
UTSW |
5 |
88,640,886 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0724:Enam
|
UTSW |
5 |
88,649,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0927:Enam
|
UTSW |
5 |
88,641,919 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1023:Enam
|
UTSW |
5 |
88,649,826 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1053:Enam
|
UTSW |
5 |
88,651,878 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1169:Enam
|
UTSW |
5 |
88,651,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1230:Enam
|
UTSW |
5 |
88,641,927 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1324:Enam
|
UTSW |
5 |
88,641,927 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1663:Enam
|
UTSW |
5 |
88,651,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1727:Enam
|
UTSW |
5 |
88,651,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1750:Enam
|
UTSW |
5 |
88,651,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1852:Enam
|
UTSW |
5 |
88,652,324 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1907:Enam
|
UTSW |
5 |
88,652,481 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2104:Enam
|
UTSW |
5 |
88,649,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2143:Enam
|
UTSW |
5 |
88,640,779 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2196:Enam
|
UTSW |
5 |
88,650,603 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2363:Enam
|
UTSW |
5 |
88,651,008 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2497:Enam
|
UTSW |
5 |
88,650,553 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3615:Enam
|
UTSW |
5 |
88,652,306 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3616:Enam
|
UTSW |
5 |
88,652,306 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3782:Enam
|
UTSW |
5 |
88,650,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4067:Enam
|
UTSW |
5 |
88,651,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4349:Enam
|
UTSW |
5 |
88,651,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4604:Enam
|
UTSW |
5 |
88,652,142 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4649:Enam
|
UTSW |
5 |
88,640,827 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4702:Enam
|
UTSW |
5 |
88,651,650 (GRCm39) |
nonsense |
probably null |
|
|
R4703:Enam
|
UTSW |
5 |
88,651,650 (GRCm39) |
nonsense |
probably null |
|
|
R4704:Enam
|
UTSW |
5 |
88,651,650 (GRCm39) |
nonsense |
probably null |
|
|
R4705:Enam
|
UTSW |
5 |
88,651,650 (GRCm39) |
nonsense |
probably null |
|
|
R4714:Enam
|
UTSW |
5 |
88,651,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4748:Enam
|
UTSW |
5 |
88,649,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4838:Enam
|
UTSW |
5 |
88,640,967 (GRCm39) |
nonsense |
probably null |
|
|
R4840:Enam
|
UTSW |
5 |
88,650,885 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4856:Enam
|
UTSW |
5 |
88,636,593 (GRCm39) |
nonsense |
probably null |
|
|
R4886:Enam
|
UTSW |
5 |
88,636,593 (GRCm39) |
nonsense |
probably null |
|
|
R4910:Enam
|
UTSW |
5 |
88,650,173 (GRCm39) |
missense |
probably benign |
|
|
R4911:Enam
|
UTSW |
5 |
88,650,173 (GRCm39) |
missense |
probably benign |
|
|
R6103:Enam
|
UTSW |
5 |
88,650,187 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6651:Enam
|
UTSW |
5 |
88,650,776 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6759:Enam
|
UTSW |
5 |
88,649,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7282:Enam
|
UTSW |
5 |
88,650,186 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7365:Enam
|
UTSW |
5 |
88,649,347 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7392:Enam
|
UTSW |
5 |
88,649,523 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7483:Enam
|
UTSW |
5 |
88,649,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7647:Enam
|
UTSW |
5 |
88,650,884 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7648:Enam
|
UTSW |
5 |
88,652,016 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7672:Enam
|
UTSW |
5 |
88,651,830 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7943:Enam
|
UTSW |
5 |
88,636,410 (GRCm39) |
splice site |
probably null |
|
|
R7999:Enam
|
UTSW |
5 |
88,651,561 (GRCm39) |
missense |
probably benign |
|
|
R8117:Enam
|
UTSW |
5 |
88,651,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8419:Enam
|
UTSW |
5 |
88,651,209 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8528:Enam
|
UTSW |
5 |
88,650,078 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8836:Enam
|
UTSW |
5 |
88,639,124 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8973:Enam
|
UTSW |
5 |
88,641,947 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9001:Enam
|
UTSW |
5 |
88,637,388 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9033:Enam
|
UTSW |
5 |
88,646,475 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9268:Enam
|
UTSW |
5 |
88,640,778 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9723:Enam
|
UTSW |
5 |
88,652,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Enam
|
UTSW |
5 |
88,650,550 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Enam
|
UTSW |
5 |
88,640,830 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAACCCCTGGAGAAGTGCTAAAC -3'
(R):5'- GAGGCGTAGTGCTCACCTTCATAC -3'
Sequencing Primer
(F):5'- CAGAATTTGCCCAAAGGAATTGC -3'
(R):5'- ACCTTCATACTGCCTAACTGTTG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation