Mutagenetix > Incidental Mutation

Incidental Mutation 'R5080:Lce1e'

387069

Institutional Source

Beutler Lab

Gene Symbol

Lce1e

Ensembl Gene

ENSMUSG00000068889

Gene Name

late cornified envelope 1E

Synonyms

1110031B11Rik

MMRRC Submission

042669-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R5080 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

92614708-92616381 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 92615137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 70 (C70Y)

Ref Sequence

ENSEMBL: ENSMUSP00000088380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090867]

AlphaFold

Q9D139

Predicted Effect

unknown
Transcript: ENSMUST00000090867
AA Change: C70Y

SMART Domains

Protein: ENSMUSP00000088380
Gene: ENSMUSG00000068889
AA Change: C70Y

Domain	Start	End	E-Value	Type
Pfam:LCE	25	68	3.8e-12	PFAM
Pfam:LCE	64	129	7.3e-10	PFAM

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 92.5%

Validation Efficiency

96% (54/56)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	G	A	14: 103,286,744 (GRCm39)	G16S	possibly damaging	Het
Adcy4	A	T	14: 56,009,832 (GRCm39)	M740K	probably damaging	Het
Atp1a2	T	C	1: 172,112,012 (GRCm39)		probably benign	Het
Atrn	T	A	2: 130,812,044 (GRCm39)	I663N	possibly damaging	Het
Cacna2d1	T	C	5: 16,567,394 (GRCm39)		probably null	Het
Carf	C	A	1: 60,189,772 (GRCm39)	Q631K	probably damaging	Het
Ces1d	T	C	8: 93,908,175 (GRCm39)	D306G	probably benign	Het
Corin	T	A	5: 72,511,194 (GRCm39)		probably benign	Het
Csf1r	T	C	18: 61,257,373 (GRCm39)	F575L	probably damaging	Het
Dcaf6	T	C	1: 165,247,690 (GRCm39)	D181G	probably damaging	Het
Dnah11	C	T	12: 118,162,565 (GRCm39)	M1I	probably null	Het
Dnah7b	C	T	1: 46,221,540 (GRCm39)	R1215*	probably null	Het
Dpp3	T	A	19: 4,965,108 (GRCm39)	D464V	probably benign	Het
Drosha	C	A	15: 12,842,229 (GRCm39)	A344D	probably benign	Het
Fat3	G	T	9: 15,910,634 (GRCm39)	S1789R	probably benign	Het
Fhip2a	A	T	19: 57,361,713 (GRCm39)	K134I	probably damaging	Het
Frg2f1	T	C	4: 119,388,230 (GRCm39)	T90A	possibly damaging	Het
Frrs1	T	C	3: 116,696,585 (GRCm39)	I544T	probably benign	Het
Gm20939	T	C	17: 95,184,419 (GRCm39)	C356R	probably damaging	Het
Ifi206	T	A	1: 173,301,414 (GRCm39)	I755F	possibly damaging	Het
Kntc1	T	A	5: 123,900,649 (GRCm39)	V249E	possibly damaging	Het
Lama5	A	T	2: 179,848,993 (GRCm39)	L230*	probably null	Het
Ltbp2	T	C	12: 84,850,638 (GRCm39)	N892S	probably damaging	Het
Mfsd4b5	T	A	10: 39,846,570 (GRCm39)	M337L	probably damaging	Het
Noxo1	T	A	17: 24,918,331 (GRCm39)	C164S	probably damaging	Het
Or2y1b	G	T	11: 49,208,914 (GRCm39)	M180I	probably benign	Het
Or5j3	G	A	2: 86,128,258 (GRCm39)	V33M	probably benign	Het
Osbpl6	T	C	2: 76,354,429 (GRCm39)	S15P	probably benign	Het
Pcdh17	A	G	14: 84,770,750 (GRCm39)	Y1076C	probably benign	Het
Pik3c2a	T	A	7: 115,947,509 (GRCm39)	H1391L	probably damaging	Het
Plcg2	A	G	8: 118,316,742 (GRCm39)	Y573C	probably benign	Het
Prpf3	T	A	3: 95,741,109 (GRCm39)	H600L	probably benign	Het
Rilpl2	T	C	5: 124,607,876 (GRCm39)	T115A	probably benign	Het
Rpl15-ps6	A	G	15: 52,341,446 (GRCm39)		noncoding transcript	Het
Serpini1	T	C	3: 75,523,967 (GRCm39)	S192P	probably damaging	Het
Sp110	G	T	1: 85,523,776 (GRCm39)	Y18*	probably null	Het
Stard6	A	T	18: 70,629,293 (GRCm39)	I126F	probably damaging	Het
Strip2	T	A	6: 29,945,592 (GRCm39)	L660H	probably damaging	Het
Tmed3	G	A	9: 89,581,825 (GRCm39)	R213*	probably null	Het
Tns1	G	T	1: 73,992,099 (GRCm39)	P860T	probably damaging	Het
Togaram1	T	C	12: 65,030,177 (GRCm39)	S994P	probably benign	Het
Tomm34	G	A	2: 163,912,816 (GRCm39)		probably benign	Het
Trank1	G	A	9: 111,218,289 (GRCm39)	E1890K	probably damaging	Het
Wasf3	C	T	5: 146,397,907 (GRCm39)	H225Y	probably benign	Het
Wdr37	A	T	13: 8,897,710 (GRCm39)		probably null	Het
Zbtb7c	A	C	18: 76,270,413 (GRCm39)	D167A	probably benign	Het
Zkscan4	A	G	13: 21,665,498 (GRCm39)	T158A	probably benign	Het

Other mutations in Lce1e

Allele	Source	Chr	Coord	Type	Predicted Effect
R0691:Lce1e	UTSW	3	92,615,063 (GRCm39)	missense	unknown
R1370:Lce1e	UTSW	3	92,615,150 (GRCm39)	missense	unknown
R1759:Lce1e	UTSW	3	92,615,178 (GRCm39)	nonsense	probably null
R2842:Lce1e	UTSW	3	92,615,056 (GRCm39)	missense	unknown
R4451:Lce1e	UTSW	3	92,614,967 (GRCm39)	missense	unknown
R4863:Lce1e	UTSW	3	92,615,178 (GRCm39)	nonsense	probably null
R4983:Lce1e	UTSW	3	92,615,135 (GRCm39)	missense	unknown
R6017:Lce1e	UTSW	3	92,615,240 (GRCm39)	nonsense	probably null
R8684:Lce1e	UTSW	3	92,615,269 (GRCm39)	missense	unknown
R9405:Lce1e	UTSW	3	92,615,312 (GRCm39)	missense	unknown
Z1088:Lce1e	UTSW	3	92,615,156 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAGTCTTCCTCACCCAGCTCAG -3'
(R):5'- AGATGTCCTGTCAGCAGAGC -3'

Sequencing Primer
(F):5'- CAGACTGCTGGCTACTGC -3'
(R):5'- TGCCAGCCTCCTCCAAAGTG -3'

Posted On

2016-06-06