Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00518:Lce1i'

6828

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lce1i

Ensembl Gene

ENSMUSG00000068888

Gene Name

late cornified envelope 1I

Synonyms

2310069N01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

IGL00518

Quality Score

Status

Chromosome

Chromosomal Location

92684517-92686206 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92684911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 88 (R88S)

Ref Sequence

ENSEMBL: ENSMUSP00000088379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090866]

AlphaFold

Q9D6P5

Predicted Effect

unknown
Transcript: ENSMUST00000090866
AA Change: R88S

SMART Domains

Protein: ENSMUSP00000088379
Gene: ENSMUSG00000068888
AA Change: R88S

Domain	Start	End	E-Value	Type
Pfam:LCE	21	66	4.1e-11	PFAM
Pfam:LCE	60	126	1.8e-10	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	T	C	1: 63,610,113 (GRCm39)	V705A	probably damaging	Het
Cacna2d4	C	T	6: 119,320,536 (GRCm39)	L905F	probably damaging	Het
Copb2	A	T	9: 98,464,947 (GRCm39)	K627N	possibly damaging	Het
Dennd5b	A	G	6: 148,928,828 (GRCm39)	C782R	probably damaging	Het
Diaph1	A	G	18: 38,026,401 (GRCm39)		probably null	Het
Esyt1	C	T	10: 128,357,743 (GRCm39)	D243N	probably benign	Het
Hectd1	A	G	12: 51,823,272 (GRCm39)		probably benign	Het
Klk1b4	T	C	7: 43,860,456 (GRCm39)		probably benign	Het
Lrrc37a	G	T	11: 103,391,177 (GRCm39)	P1416Q	probably benign	Het
Mcm6	C	A	1: 128,272,120 (GRCm39)	A426S	probably damaging	Het
Mycbp2	C	T	14: 103,393,244 (GRCm39)	V3106I	probably damaging	Het
Nkiras1	T	G	14: 18,278,435 (GRCm38)	F50V	probably benign	Het
Pik3r6	A	T	11: 68,425,077 (GRCm39)	I457F	probably damaging	Het
Rbck1	T	C	2: 152,160,315 (GRCm39)	K455E	probably damaging	Het
Ryr2	T	A	13: 11,848,978 (GRCm39)		probably benign	Het
Serpinb9b	T	A	13: 33,223,553 (GRCm39)	F248L	probably benign	Het
Sox6	C	A	7: 115,076,441 (GRCm39)	M733I	probably benign	Het
Supt20	T	C	3: 54,622,590 (GRCm39)	S446P	probably damaging	Het
Tmem209	A	G	6: 30,487,416 (GRCm39)	M530T	probably damaging	Het
Top2a	A	T	11: 98,909,647 (GRCm39)	Y150*	probably null	Het
Trmt9b	C	T	8: 36,979,453 (GRCm39)	T352I	possibly damaging	Het
Ttn	T	A	2: 76,733,726 (GRCm39)		probably benign	Het
Ubr2	A	G	17: 47,303,922 (GRCm39)	Y138H	probably damaging	Het
Utrn	A	G	10: 12,542,587 (GRCm39)		probably benign	Het
Zfp354a	T	A	11: 50,961,381 (GRCm39)	S531T	probably damaging	Het
Zscan4d	T	C	7: 10,896,281 (GRCm39)	E363G	probably benign	Het

Other mutations in Lce1i

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL03378:Lce1i	APN	3	92,685,033 (GRCm39)	missense	unknown
R1553:Lce1i	UTSW	3	92,685,102 (GRCm39)	missense	unknown
R2944:Lce1i	UTSW	3	92,685,063 (GRCm39)	missense	unknown
R4287:Lce1i	UTSW	3	92,684,742 (GRCm39)	missense	unknown
R5393:Lce1i	UTSW	3	92,685,042 (GRCm39)	missense	unknown
R5571:Lce1i	UTSW	3	92,684,988 (GRCm39)	missense	unknown
R5604:Lce1i	UTSW	3	92,685,056 (GRCm39)	missense	unknown
R7709:Lce1i	UTSW	3	92,685,066 (GRCm39)	missense	unknown
R9524:Lce1i	UTSW	3	92,685,081 (GRCm39)	missense	unknown
R9674:Lce1i	UTSW	3	92,685,113 (GRCm39)	missense	unknown
Z1088:Lce1i	UTSW	3	92,684,596 (GRCm39)	splice site	probably null

Posted On

2012-04-20