Mutagenetix > Incidental Mutation

Incidental Mutation 'R1852:Enam'

208195

Institutional Source

Beutler Lab

Gene Symbol

Enam

Ensembl Gene

ENSMUSG00000029286

Gene Name

enamelin

Synonyms

abte

MMRRC Submission

039876-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R1852 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88635834-88653908 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88652324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1278 (S1278T)

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: S1203T

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031222
Gene: ENSMUSG00000029286
AA Change: S1203T

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

possibly damaging
Transcript: ENSMUST00000199104
AA Change: S1278T

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142854
Gene: ENSMUSG00000029286
AA Change: S1278T

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

Validation Efficiency

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	A	G	7: 12,246,629 (GRCm39)		probably null	Het
4930433I11Rik	T	A	7: 40,643,037 (GRCm39)	D326E	probably benign	Het
Abca8a	T	C	11: 109,960,212 (GRCm39)	D676G	probably damaging	Het
Abcb7	T	C	X: 103,349,005 (GRCm39)	M153V	probably benign	Het
Ablim3	G	A	18: 61,982,466 (GRCm39)	H160Y	probably benign	Het
Acsl6	T	C	11: 54,251,902 (GRCm39)	I683T	probably damaging	Het
Adgrg5	A	T	8: 95,664,428 (GRCm39)	Y345F	probably damaging	Het
Alg6	T	G	4: 99,634,599 (GRCm39)	F114V	probably benign	Het
Ank2	A	C	3: 126,791,500 (GRCm39)		probably null	Het
Ankrd24	A	T	10: 81,478,775 (GRCm39)		probably benign	Het
Ano8	T	C	8: 71,936,131 (GRCm39)	K222E	probably damaging	Het
Arhgef5	T	C	6: 43,252,119 (GRCm39)	S957P	probably benign	Het
Bltp2	A	G	11: 78,159,299 (GRCm39)	D499G	probably damaging	Het
Bmpr1b	A	T	3: 141,563,163 (GRCm39)		probably null	Het
C3	A	G	17: 57,529,823 (GRCm39)	V2A	probably damaging	Het
Capn1	A	G	19: 6,059,133 (GRCm39)	V276A	possibly damaging	Het
Ccdc57	T	C	11: 120,812,499 (GRCm39)	E85G	probably damaging	Het
Chil3	C	T	3: 106,056,117 (GRCm39)		probably null	Het
Chl1	A	T	6: 103,676,120 (GRCm39)		probably null	Het
Chodl	C	T	16: 78,738,146 (GRCm39)	P38L	probably benign	Het
Clec4a2	G	T	6: 123,116,084 (GRCm39)	E124*	probably null	Het
Cmtr1	T	C	17: 29,921,229 (GRCm39)	V825A	probably benign	Het
Cnksr3	T	C	10: 7,070,539 (GRCm39)	I232V	probably benign	Het
Cntn1	C	T	15: 92,203,021 (GRCm39)	R768C	probably damaging	Het
Col15a1	G	T	4: 47,299,278 (GRCm39)		probably null	Het
Col6a3	T	A	1: 90,735,256 (GRCm39)	I798F	possibly damaging	Het
Cpxcr1	T	A	X: 115,387,758 (GRCm39)	L223*	probably null	Het
Cul1	A	G	6: 47,497,764 (GRCm39)	N615S	probably damaging	Het
Cxcr2	A	G	1: 74,198,438 (GRCm39)	I311V	probably benign	Het
Cyp2c67	C	T	19: 39,605,811 (GRCm39)	G362S	probably benign	Het
D930048N14Rik	T	A	11: 51,544,692 (GRCm39)		probably benign	Het
Ddx49	T	C	8: 70,753,633 (GRCm39)	T79A	probably damaging	Het
Defb46	T	A	8: 19,289,991 (GRCm39)		probably null	Het
Dnah17	T	A	11: 118,012,742 (GRCm39)	I145F	probably damaging	Het
Dock8	A	T	19: 25,104,492 (GRCm39)	I725F	probably benign	Het
Dppa4	G	A	16: 48,108,247 (GRCm39)	A11T	probably damaging	Het
Fndc3a	A	G	14: 72,794,283 (GRCm39)	V829A	probably damaging	Het
Gatb	T	G	3: 85,526,184 (GRCm39)	L354R	probably damaging	Het
Gm10787	A	T	10: 76,857,711 (GRCm39)		noncoding transcript	Het
Gsap	T	A	5: 21,495,543 (GRCm39)		probably null	Het
Gtf2ird1	T	C	5: 134,411,434 (GRCm39)		probably null	Het
Has3	A	T	8: 107,600,711 (GRCm39)	I58F	probably damaging	Het
Haus5	A	T	7: 30,357,926 (GRCm39)		probably null	Het
Hip1r	T	C	5: 124,129,568 (GRCm39)	V169A	probably benign	Het
Hnf1a	T	A	5: 115,108,770 (GRCm39)	D45V	probably damaging	Het
Il20ra	T	A	10: 19,618,767 (GRCm39)	Y72N	probably damaging	Het
Ipo11	A	T	13: 106,948,765 (GRCm39)	V914E	possibly damaging	Het
Itpr1	T	C	6: 108,363,667 (GRCm39)	L763P	probably damaging	Het
Katnal2	C	A	18: 77,103,719 (GRCm39)	R104L	probably benign	Het
Kcng4	G	T	8: 120,352,947 (GRCm39)	P321Q	probably benign	Het
Larp4b	T	C	13: 9,187,339 (GRCm39)		probably null	Het
Lars1	T	C	18: 42,345,673 (GRCm39)	N1001S	probably benign	Het
Lhcgr	T	A	17: 89,072,604 (GRCm39)	I148F	probably damaging	Het
Lsm10	T	A	4: 125,991,756 (GRCm39)	S37R	possibly damaging	Het
Mfsd13a	A	G	19: 46,360,619 (GRCm39)		probably null	Het
Mipep	T	A	14: 61,080,689 (GRCm39)	C560*	probably null	Het
Mme	G	A	3: 63,235,467 (GRCm39)	D172N	probably benign	Het
Mme	A	G	3: 63,235,404 (GRCm39)	S97G	probably benign	Het
Mtrex	A	T	13: 113,009,461 (GRCm39)	H979Q	probably benign	Het
Mx1	A	T	16: 97,249,403 (GRCm39)	L608Q	probably damaging	Het
Myt1l	T	C	12: 29,901,660 (GRCm39)	M208T	probably benign	Het
Neb	T	C	2: 52,118,554 (GRCm39)	I3987V	probably damaging	Het
Nelfcd	A	G	2: 174,265,771 (GRCm39)		probably null	Het
Neto1	T	C	18: 86,414,009 (GRCm39)	M1T	probably null	Het
Nom1	T	C	5: 29,651,876 (GRCm39)	F738S	possibly damaging	Het
Or10v1	C	A	19: 11,874,249 (GRCm39)	P288H	probably damaging	Het
Or4f61	C	A	2: 111,922,192 (GRCm39)	V285L	probably benign	Het
Or51h5	C	T	7: 102,577,648 (GRCm39)	S271L	probably damaging	Het
Or5b123	C	T	19: 13,596,967 (GRCm39)	S147F	probably damaging	Het
Or5w14	T	C	2: 87,541,317 (GRCm39)		probably null	Het
Or6c203	T	C	10: 129,010,197 (GRCm39)	K231R	probably benign	Het
Or6f2	T	A	7: 139,756,474 (GRCm39)	L147*	probably null	Het
Or9m1b	T	G	2: 87,836,865 (GRCm39)	I86L	probably damaging	Het
Pak1ip1	A	G	13: 41,164,708 (GRCm39)	T264A	possibly damaging	Het
Palb2	G	T	7: 121,713,537 (GRCm39)	D915E	possibly damaging	Het
Pank4	T	C	4: 155,060,816 (GRCm39)	L491P	probably damaging	Het
Paqr7	T	C	4: 134,234,980 (GRCm39)	V279A	probably benign	Het
Pcif1	G	A	2: 164,730,386 (GRCm39)	R373Q	probably damaging	Het
Pdgfa	T	A	5: 138,964,927 (GRCm39)	N185I	probably benign	Het
Plcd4	T	C	1: 74,588,520 (GRCm39)	V123A	possibly damaging	Het
Pramel26	T	C	4: 143,539,396 (GRCm39)	I32M	probably benign	Het
Prune2	A	G	19: 17,176,503 (GRCm39)	I154V	probably damaging	Het
Rac3	T	G	11: 120,614,320 (GRCm39)	L148R	possibly damaging	Het
Rapgef6	T	A	11: 54,533,637 (GRCm39)	D362E	probably benign	Het
Rbl1	A	G	2: 157,016,823 (GRCm39)	I592T	probably benign	Het
Rbl2	A	C	8: 91,822,191 (GRCm39)	D408A	possibly damaging	Het
Retreg2	A	G	1: 75,123,319 (GRCm39)	K416E	probably benign	Het
Rorb	A	T	19: 18,939,447 (GRCm39)	L234H	probably damaging	Het
Rpp40	T	G	13: 36,080,897 (GRCm39)	D279A	probably benign	Het
Siglec1	C	A	2: 130,923,420 (GRCm39)	V442L	probably damaging	Het
Sik3	C	G	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Slc25a34	G	A	4: 141,349,579 (GRCm39)	T192I	probably benign	Het
Sp140l1	G	A	1: 85,062,852 (GRCm39)		probably benign	Het
Sptbn5	T	C	2: 119,902,125 (GRCm39)	I126M	possibly damaging	Het
Strada	A	G	11: 106,062,047 (GRCm39)	V94A	possibly damaging	Het
Stxbp5	C	A	10: 9,688,042 (GRCm39)	V420F	possibly damaging	Het
Tgm1	T	C	14: 55,942,398 (GRCm39)	Y651C	probably damaging	Het
Tmem200c	T	A	17: 69,147,612 (GRCm39)	V65E	probably damaging	Het
Tmem74	A	T	15: 43,730,559 (GRCm39)	D161E	probably benign	Het
Trgc3	A	T	13: 19,445,261 (GRCm39)	M70L	probably damaging	Het
Vcan	T	G	13: 89,853,511 (GRCm39)	E483A	probably damaging	Het
Vmn2r124	A	G	17: 18,283,436 (GRCm39)	T377A	probably benign	Het
Vmn2r3	A	C	3: 64,166,815 (GRCm39)	I772S	probably damaging	Het
Wdfy3	A	G	5: 102,063,242 (GRCm39)	V1342A	probably benign	Het
Zfp507	T	C	7: 35,487,176 (GRCm39)	H764R	probably damaging	Het
Znrf3	A	G	11: 5,237,455 (GRCm39)	I218T	possibly 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
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'- TTTTGAAGGCAGCCAGCTGAG -3'
(R):5'- TAAGCAGCCTTGGTCCTGTG -3'

Sequencing Primer
(F):5'- GTGAAAGAACTGCTGGCCTTACTC -3'
(R):5'- GACTGGTTCCTTGAAAAGATTCGAG -3'

Posted On

2014-06-23