Incidental Mutation 'R8836:Enam'
| ID |
674148 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Enam
|
| Ensembl Gene |
ENSMUSG00000029286 |
| Gene Name |
enamelin |
| Synonyms |
abte |
| MMRRC Submission |
068664-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.222)
|
| Stock # |
R8836 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
88635834-88653908 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 88639124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031222]
[ENSMUST00000199104]
|
| AlphaFold |
O55196 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031222
|
| SMART Domains |
Protein: ENSMUSP00000031222
Gene: ENSMUSG00000029286
| 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 null
Transcript: ENSMUST00000199104
|
| SMART Domains |
Protein: ENSMUSP00000142854
Gene: ENSMUSG00000029286
| 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 |
0.9491 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (69/69) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap4m1 |
T |
A |
5: 138,173,061 (GRCm39) |
I134N |
probably damaging |
Het |
| Cacna1b |
A |
G |
2: 24,542,982 (GRCm39) |
V1294A |
possibly damaging |
Het |
| Carmil1 |
A |
T |
13: 24,339,029 (GRCm39) |
S160T |
probably damaging |
Het |
| Ccdc7b |
C |
A |
8: 129,857,512 (GRCm39) |
|
probably benign |
Het |
| Chd9 |
T |
G |
8: 91,767,812 (GRCm39) |
N2436K |
probably damaging |
Het |
| Cradd |
G |
A |
10: 95,158,462 (GRCm39) |
A95V |
probably benign |
Het |
| Cttnbp2 |
T |
G |
6: 18,375,952 (GRCm39) |
E1529A |
probably damaging |
Het |
| Cyp11b1 |
T |
C |
15: 74,710,387 (GRCm39) |
I305V |
possibly damaging |
Het |
| Cyp2j6 |
A |
T |
4: 96,411,983 (GRCm39) |
N428K |
probably damaging |
Het |
| Cyp3a44 |
A |
T |
5: 145,731,728 (GRCm39) |
S139R |
probably damaging |
Het |
| Dysf |
C |
T |
6: 84,093,105 (GRCm39) |
R1073C |
probably damaging |
Het |
| Ei24 |
A |
G |
9: 36,701,498 (GRCm39) |
F23S |
|
Het |
| Ezh2 |
A |
T |
6: 47,531,196 (GRCm39) |
C163S |
probably benign |
Het |
| Fam76b |
T |
A |
9: 13,755,381 (GRCm39) |
F329L |
probably benign |
Het |
| Gatad2b |
G |
A |
3: 90,263,507 (GRCm39) |
A535T |
probably damaging |
Het |
| Gm5622 |
T |
A |
14: 51,796,770 (GRCm39) |
|
probably benign |
Het |
| Gm9195 |
C |
A |
14: 72,695,830 (GRCm39) |
A1401S |
probably benign |
Het |
| Greb1l |
A |
T |
18: 10,509,257 (GRCm39) |
H523L |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,288,640 (GRCm39) |
N15I |
probably damaging |
Het |
| Gsta3 |
A |
T |
1: 21,330,283 (GRCm39) |
Y95F |
probably benign |
Het |
| Htr1f |
C |
A |
16: 64,747,196 (GRCm39) |
G32V |
probably benign |
Het |
| Il18r1 |
C |
A |
1: 40,535,016 (GRCm39) |
Q404K |
probably benign |
Het |
| Izumo3 |
A |
T |
4: 92,033,216 (GRCm39) |
|
probably null |
Het |
| Kctd19 |
T |
A |
8: 106,112,028 (GRCm39) |
I806F |
probably damaging |
Het |
| Lama4 |
G |
T |
10: 38,902,587 (GRCm39) |
C187F |
probably damaging |
Het |
| Lamp3 |
T |
G |
16: 19,519,788 (GRCm39) |
I132L |
probably benign |
Het |
| Ly9 |
A |
T |
1: 171,432,559 (GRCm39) |
Y151* |
probably null |
Het |
| Lztr1 |
T |
C |
16: 17,343,402 (GRCm39) |
L474P |
probably benign |
Het |
| Mcm9 |
A |
T |
10: 53,502,130 (GRCm39) |
Y79N |
|
Het |
| Mocs2 |
T |
A |
13: 114,961,760 (GRCm39) |
N80K |
possibly damaging |
Het |
| Mrgbp |
T |
A |
2: 180,224,712 (GRCm39) |
C38S |
probably benign |
Het |
| Ncs1 |
G |
T |
2: 31,136,159 (GRCm39) |
|
probably benign |
Het |
| Or51a10 |
G |
A |
7: 103,699,055 (GRCm39) |
P169S |
probably benign |
Het |
| Or8k17 |
T |
C |
2: 86,066,888 (GRCm39) |
N90S |
probably benign |
Het |
| Pakap |
A |
G |
4: 57,709,916 (GRCm39) |
D287G |
probably benign |
Het |
| Pax5 |
A |
T |
4: 44,645,621 (GRCm39) |
V236E |
probably benign |
Het |
| Pcdhgb5 |
A |
G |
18: 37,865,260 (GRCm39) |
I352V |
probably benign |
Het |
| Pik3r5 |
A |
G |
11: 68,385,104 (GRCm39) |
T670A |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,479,243 (GRCm39) |
N1301K |
possibly damaging |
Het |
| Pou2af3 |
A |
G |
9: 51,182,104 (GRCm39) |
L156P |
probably damaging |
Het |
| Pou5f2 |
G |
A |
13: 78,173,886 (GRCm39) |
G276D |
probably damaging |
Het |
| Ppl |
C |
G |
16: 4,906,854 (GRCm39) |
R1147P |
probably damaging |
Het |
| Pramel17 |
T |
C |
4: 101,693,022 (GRCm39) |
K326R |
probably benign |
Het |
| Prkdc |
C |
A |
16: 15,545,523 (GRCm39) |
R1880S |
probably damaging |
Het |
| Rbfox1 |
T |
A |
16: 7,227,605 (GRCm39) |
D373E |
probably benign |
Het |
| Rbm24 |
A |
G |
13: 46,582,780 (GRCm39) |
D233G |
probably damaging |
Het |
| Rbp3 |
A |
T |
14: 33,680,588 (GRCm39) |
E1063D |
possibly damaging |
Het |
| Rc3h2 |
A |
G |
2: 37,267,941 (GRCm39) |
V939A |
possibly damaging |
Het |
| Relb |
C |
A |
7: 19,345,799 (GRCm39) |
V385L |
possibly damaging |
Het |
| Robo4 |
T |
G |
9: 37,317,130 (GRCm39) |
S482A |
unknown |
Het |
| Ryr1 |
A |
C |
7: 28,774,091 (GRCm39) |
L2426R |
probably damaging |
Het |
| Sass6 |
A |
T |
3: 116,407,598 (GRCm39) |
E238V |
possibly damaging |
Het |
| Ski |
T |
C |
4: 155,245,047 (GRCm39) |
I400V |
probably benign |
Het |
| Slc27a2 |
C |
A |
2: 126,416,656 (GRCm39) |
A336D |
|
Het |
| Slc30a3 |
T |
C |
5: 31,250,668 (GRCm39) |
T12A |
possibly damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,725,444 (GRCm39) |
V447A |
probably damaging |
Het |
| Smad1 |
T |
A |
8: 80,098,554 (GRCm39) |
I87F |
probably damaging |
Het |
| Spns1 |
G |
A |
7: 125,971,593 (GRCm39) |
S319F |
possibly damaging |
Het |
| Sytl3 |
C |
A |
17: 6,973,410 (GRCm39) |
T237N |
possibly damaging |
Het |
| Tdrd7 |
A |
G |
4: 45,987,570 (GRCm39) |
T68A |
probably damaging |
Het |
| Tex56 |
T |
A |
13: 35,116,526 (GRCm39) |
W92R |
probably damaging |
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Tmem238 |
A |
G |
7: 4,792,520 (GRCm39) |
C8R |
possibly damaging |
Het |
| Ubxn2b |
A |
T |
4: 6,216,061 (GRCm39) |
Q328L |
probably damaging |
Het |
| Vmn1r226 |
A |
G |
17: 20,908,133 (GRCm39) |
T122A |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,882,648 (GRCm39) |
F982L |
|
Het |
| Xpo4 |
T |
C |
14: 57,902,367 (GRCm39) |
E16G |
probably benign |
Het |
| Zbtb17 |
T |
A |
4: 141,189,233 (GRCm39) |
M51K |
possibly damaging |
Het |
| Zdhhc1 |
A |
G |
8: 106,200,173 (GRCm39) |
F315S |
probably benign |
Het |
| Zfp568 |
C |
T |
7: 29,722,459 (GRCm39) |
T468M |
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 |
|
R0548:Enam
|
UTSW |
5 |
88,650,964 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
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'- GAAGTCTGACATCAAATTCAGGAAT -3'
(R):5'- TGACTAAGAATGTTTGTCACTAGGA -3'
Sequencing Primer
(F):5'- TACAATCCTGTGCACATGGG -3'
(R):5'- GGAACAAATGAAGCGGTTTTTCTCC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation