Mutagenetix > Incidental Mutation

Incidental Mutation 'R2842:Lce1e'

254307

Institutional Source

Beutler Lab

Gene Symbol

Lce1e

Ensembl Gene

ENSMUSG00000068889

Gene Name

late cornified envelope 1E

Synonyms

1110031B11Rik

Accession Numbers

Essential gene?

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

Stock #

R2842 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92614708-92616381 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92615056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 97 (H97L)

Ref Sequence

ENSEMBL: ENSMUSP00000088380 (fasta)

Gene Model

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

AlphaFold

Q9D139

Predicted Effect

unknown
Transcript: ENSMUST00000090867
AA Change: H97L

SMART Domains

Protein: ENSMUSP00000088380
Gene: ENSMUSG00000068889
AA Change: H97L

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aplp2	C	T	9: 31,069,122 (GRCm39)	R569Q	probably benign	Het
Arl8a	T	C	1: 135,082,989 (GRCm39)	S181P	probably damaging	Het
Armc8	A	G	9: 99,387,734 (GRCm39)	S396P	probably benign	Het
Baz2b	A	G	2: 59,743,348 (GRCm39)	V1541A	probably benign	Het
Crebbp	G	A	16: 3,927,062 (GRCm39)	R628C	probably damaging	Het
Ep400	T	A	5: 110,846,681 (GRCm39)	K295*	probably null	Het
Frem3	T	A	8: 81,395,978 (GRCm39)		probably null	Het
Gon4l	T	C	3: 88,802,794 (GRCm39)	V1135A	probably damaging	Het
Gprc5b	G	A	7: 118,583,302 (GRCm39)	T189M	possibly damaging	Het
Gucy2g	C	T	19: 55,229,379 (GRCm39)	C97Y	probably damaging	Het
Heatr5a	T	A	12: 52,002,261 (GRCm39)	K225M	probably null	Het
Heatr5a	C	T	12: 52,002,260 (GRCm39)		probably null	Het
Insr	A	G	8: 3,252,986 (GRCm39)	I391T	probably damaging	Het
Macf1	A	G	4: 123,270,210 (GRCm39)	V6647A	probably damaging	Het
Mast1	T	C	8: 85,650,537 (GRCm39)	R399G	probably damaging	Het
Mast4	C	A	13: 102,872,939 (GRCm39)	S1951I	probably benign	Het
Mdc1	C	T	17: 36,159,686 (GRCm39)	P648S	probably benign	Het
Mgam	T	C	6: 40,638,279 (GRCm39)	F410L	probably benign	Het
Nr2e1	T	C	10: 42,444,441 (GRCm39)	R223G	probably damaging	Het
Otud7b	G	A	3: 96,043,905 (GRCm39)	E19K	probably damaging	Het
Plce1	T	C	19: 38,512,727 (GRCm39)	S9P	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Plxna4	A	G	6: 32,192,566 (GRCm39)		probably null	Het
Prkag3	T	C	1: 74,780,334 (GRCm39)	I444V	probably benign	Het
Rsph10b	T	G	5: 143,916,710 (GRCm39)	V310G	possibly damaging	Het
Tmem225	T	C	9: 40,061,097 (GRCm39)	Y135H	probably damaging	Het
Tox2	G	A	2: 163,046,550 (GRCm39)		probably benign	Het
Ttc3	C	T	16: 94,232,857 (GRCm39)	P1003L	probably damaging	Het
Wfikkn2	G	A	11: 94,129,085 (GRCm39)	T352I	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
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
R5080:Lce1e	UTSW	3	92,615,137 (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'- TCAGGAACTCAGAGTGCAGG -3'
(R):5'- CAAATGTCCTCCCAAGTGCC -3'

Sequencing Primer
(F):5'- GGAGAATCTTCTGAGCATATGTTCC -3'
(R):5'- CCCCCTGTGTCTTCCTGCTG -3'

Posted On

2014-12-04