Mutagenetix > Incidental Mutation

Incidental Mutation 'R4838:Enam'

371513

Institutional Source

Beutler Lab

Gene Symbol

Enam

Ensembl Gene

ENSMUSG00000029286

Gene Name

enamelin

Synonyms

abte

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.337) question?

Stock #

R4838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88635834-88653908 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 88640967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 210 (Q210*)

Ref Sequence

ENSEMBL: ENSMUSP00000142854 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031222] [ENSMUST00000199104]

AlphaFold

O55196

Predicted Effect

probably null
Transcript: ENSMUST00000031222
AA Change: Q135*

SMART Domains

Protein: ENSMUSP00000031222
Gene: ENSMUSG00000029286
AA Change: Q135*

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
AA Change: Q210*

SMART Domains

Protein: ENSMUSP00000142854
Gene: ENSMUSG00000029286
AA Change: Q210*

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,944,523 (GRCm39)	V386A	probably benign	Het
Adk	G	A	14: 21,419,154 (GRCm39)	A247T	probably damaging	Het
Ankrd27	T	A	7: 35,291,231 (GRCm39)	L9Q	possibly damaging	Het
Atad2	A	G	15: 57,966,679 (GRCm39)	L638P	probably damaging	Het
Atf7ip	T	A	6: 136,573,489 (GRCm39)	D1009E	probably benign	Het
Bend7	A	T	2: 4,749,133 (GRCm39)	K83N	probably damaging	Het
Bicc1	C	T	10: 70,781,146 (GRCm39)	D562N	possibly damaging	Het
Calcrl	T	A	2: 84,181,549 (GRCm39)	N200Y	probably damaging	Het
Ccdc125	C	A	13: 100,814,453 (GRCm39)	A11E	possibly damaging	Het
Cd5l	A	G	3: 87,273,258 (GRCm39)	T76A	probably benign	Het
Cdhr5	A	T	7: 140,853,644 (GRCm39)	I2N	probably damaging	Het
Cdk10	C	T	8: 123,957,353 (GRCm39)	A230V	probably damaging	Het
Cep128	T	C	12: 90,966,319 (GRCm39)		probably benign	Het
Cep131	T	C	11: 119,966,982 (GRCm39)	N186D	probably damaging	Het
Cfhr4	T	A	1: 139,661,181 (GRCm39)	D556V	probably damaging	Het
Cog7	G	T	7: 121,570,604 (GRCm39)	P168Q	probably damaging	Het
Col28a1	T	A	6: 8,014,559 (GRCm39)	M949L	probably benign	Het
Coq8b	T	A	7: 26,950,016 (GRCm39)	M365K	probably damaging	Het
Cpa1	A	G	6: 30,639,515 (GRCm39)	E18G	possibly damaging	Het
Csmd2	A	G	4: 128,411,542 (GRCm39)	H2520R	probably benign	Het
Cyp2c69	T	C	19: 39,866,038 (GRCm39)	N185S	probably benign	Het
Dpm1	G	A	2: 168,052,456 (GRCm39)	T260I	probably damaging	Het
Dtx3	A	T	10: 127,027,176 (GRCm39)		probably null	Het
Eepd1	T	C	9: 25,500,756 (GRCm39)	V401A	possibly damaging	Het
Ehhadh	A	G	16: 21,581,952 (GRCm39)	S347P	possibly damaging	Het
Elp3	A	G	14: 65,785,313 (GRCm39)		probably null	Het
Epha1	C	T	6: 42,340,750 (GRCm39)	R607H	probably benign	Het
Erich6	A	G	3: 58,544,251 (GRCm39)	I112T	probably benign	Het
F830045P16Rik	A	G	2: 129,302,470 (GRCm39)	V374A	possibly damaging	Het
Fam171a2	C	A	11: 102,329,511 (GRCm39)	R416L	possibly damaging	Het
Fbn1	T	C	2: 125,214,319 (GRCm39)	N764S	probably benign	Het
Fip1l1	C	T	5: 74,752,600 (GRCm39)	T469I	probably damaging	Het
Flad1	G	A	3: 89,313,217 (GRCm39)	R342C	probably damaging	Het
Fzd3	A	G	14: 65,477,269 (GRCm39)	V95A	probably benign	Het
Garem1	T	C	18: 21,280,950 (GRCm39)	T469A	probably benign	Het
Gm17093	A	G	14: 44,755,805 (GRCm39)	Y24C	unknown	Het
Grap2	T	C	15: 80,522,762 (GRCm39)	V96A	possibly damaging	Het
Greb1	A	T	12: 16,734,361 (GRCm39)		probably null	Het
Grid2ip	A	T	5: 143,374,530 (GRCm39)	K913*	probably null	Het
Gzmk	T	C	13: 113,309,555 (GRCm39)	D126G	probably damaging	Het
Hibch	A	G	1: 52,924,337 (GRCm39)	I171V	possibly damaging	Het
Hipk2	G	T	6: 38,795,339 (GRCm39)	T310K	possibly damaging	Het
Hk3	T	C	13: 55,154,231 (GRCm39)	Y815C	probably damaging	Het
Hps5	A	T	7: 46,437,778 (GRCm39)	V99E	probably damaging	Het
Hspg2	A	G	4: 137,268,977 (GRCm39)	H2203R	possibly damaging	Het
Il12rb2	A	G	6: 67,286,121 (GRCm39)	V108A	probably damaging	Het
Il6st	C	T	13: 112,627,044 (GRCm39)	R279*	probably null	Het
Kdm2a	A	C	19: 4,375,054 (GRCm39)	S692R	probably benign	Het
Kif13a	T	C	13: 46,980,224 (GRCm39)	K176R	probably damaging	Het
Kif5b	T	C	18: 6,216,869 (GRCm39)	K485E	probably damaging	Het
Ktn1	C	T	14: 47,963,413 (GRCm39)	R1111*	probably null	Het
Lrrc23	A	T	6: 124,755,152 (GRCm39)	N128K	probably benign	Het
Mad1l1	G	A	5: 140,286,017 (GRCm39)	Q293*	probably null	Het
Man1b1	A	T	2: 25,235,487 (GRCm39)	I338F	possibly damaging	Het
Marchf1	G	T	8: 66,921,015 (GRCm39)	V225L	probably damaging	Het
Matcap2	A	T	9: 22,335,673 (GRCm39)	D97V	probably damaging	Het
Mrpl3	A	G	9: 104,934,231 (GRCm39)	D118G	probably damaging	Het
Nomo1	A	T	7: 45,733,139 (GRCm39)	Q1209L	unknown	Het
Nrcam	A	G	12: 44,620,802 (GRCm39)	E949G	probably damaging	Het
Olfm5	T	G	7: 103,803,572 (GRCm39)	N297T	probably damaging	Het
Or51h7	T	A	7: 102,591,453 (GRCm39)	L110F	probably damaging	Het
Pcdh7	A	T	5: 57,878,146 (GRCm39)	N567I	probably damaging	Het
Pkn1	A	G	8: 84,404,595 (GRCm39)	L495P	probably damaging	Het
Pkp1	T	C	1: 135,810,326 (GRCm39)	S415G	probably damaging	Het
Pou2f1	T	A	1: 165,744,492 (GRCm39)	Q53L	probably null	Het
Pramel26	G	A	4: 143,537,375 (GRCm39)	Q319*	probably null	Het
Prkce	A	G	17: 86,937,511 (GRCm39)	K648R	probably benign	Het
Ptprh	G	A	7: 4,576,429 (GRCm39)	T277I	possibly damaging	Het
Rpl31	C	T	1: 39,410,048 (GRCm39)	R83C	probably benign	Het
Rpusd3	G	A	6: 113,393,837 (GRCm39)	Q194*	probably null	Het
Sgsm1	T	A	5: 113,430,492 (GRCm39)	N298Y	probably damaging	Het
She	G	A	3: 89,758,946 (GRCm39)	G355D	probably benign	Het
Shld2	A	G	14: 33,990,582 (GRCm39)	V108A	probably benign	Het
Snx11	C	T	11: 96,665,284 (GRCm39)	E9K	possibly damaging	Het
Soat1	C	A	1: 156,260,507 (GRCm39)	A444S	probably benign	Het
Sox6	T	C	7: 115,085,897 (GRCm39)	Y690C	probably damaging	Het
Spata13	T	A	14: 60,970,628 (GRCm39)	F10I	probably benign	Het
St18	C	A	1: 6,873,129 (GRCm39)	T288K	probably benign	Het
Tifa	C	T	3: 127,590,235 (GRCm39)	S2F	probably damaging	Het
Tmem232	A	T	17: 65,737,883 (GRCm39)	S392R	probably benign	Het
Tmtc3	T	C	10: 100,302,082 (GRCm39)	N289S	probably damaging	Het
Tpo	A	G	12: 30,142,633 (GRCm39)	F697S	probably damaging	Het
Trp53	A	G	11: 69,478,456 (GRCm39)	T122A	probably damaging	Het
Trps1	A	C	15: 50,690,712 (GRCm39)	I10S	probably benign	Het
Tubgcp5	C	T	7: 55,443,933 (GRCm39)		probably benign	Het
Unc13c	T	G	9: 73,839,354 (GRCm39)	Y499S	possibly damaging	Het
Unc45a	C	A	7: 79,982,783 (GRCm39)	D381Y	probably damaging	Het
Upf1	G	C	8: 70,792,018 (GRCm39)	H402Q	probably benign	Het
Uroc1	A	T	6: 90,326,174 (GRCm39)	I510F	possibly damaging	Het
Usp15	A	G	10: 122,963,662 (GRCm39)	F589L	probably damaging	Het
Vmn2r76	T	C	7: 85,874,733 (GRCm39)	Y748C	probably damaging	Het
Wwp1	T	C	4: 19,662,143 (GRCm39)	N151D	probably benign	Het
Zbtb40	A	T	4: 136,728,527 (GRCm39)	S439T	probably benign	Het
Zbtb6	A	T	2: 37,318,728 (GRCm39)	L400*	probably null	Het
Zfp125	C	T	12: 20,949,961 (GRCm39)		noncoding transcript	Het
Zmynd8	A	C	2: 165,681,954 (GRCm39)	Y183*	probably null	Het
Zpld2	A	G	4: 133,920,410 (GRCm39)	V585A	probably benign	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
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'- CCATATGGAAATGGTATGCCAATG -3'
(R):5'- AAGGTTGGAGTTGACCTGCC -3'

Sequencing Primer
(F):5'- GTATGCCAATGCCGCCAC -3'
(R):5'- AGTTGACCTGCCAGGCAAC -3'

Posted On

2016-03-01