Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03378:Lce1i'

420569

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: 0.115) question?

Stock #

IGL03378

Quality Score

Status

Chromosome

Chromosomal Location

92684517-92686206 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92685033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 48 (S48T)

Ref Sequence

ENSEMBL: ENSMUSP00000088379 (fasta)

Gene Model

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

AlphaFold

Q9D6P5

Predicted Effect

unknown
Transcript: ENSMUST00000090866
AA Change: S48T

SMART Domains

Protein: ENSMUSP00000088379
Gene: ENSMUSG00000068888
AA Change: S48T

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430069I07Rik	T	A	15: 34,355,778 (GRCm39)	I261N	probably benign	Het
Bace1	T	A	9: 45,770,199 (GRCm39)		probably null	Het
Caprin2	G	T	6: 148,779,352 (GRCm39)	Q152K	probably benign	Het
Cdh16	C	T	8: 105,345,917 (GRCm39)	D285N	probably benign	Het
Cnnm2	G	A	19: 46,866,473 (GRCm39)	A874T	possibly damaging	Het
Dhx38	A	T	8: 110,285,722 (GRCm39)		probably null	Het
Dnhd1	A	C	7: 105,362,940 (GRCm39)	E3834A	possibly damaging	Het
Erc2	A	C	14: 27,733,680 (GRCm39)	S585R	probably damaging	Het
Gli3	A	G	13: 15,819,005 (GRCm39)	E269G	probably damaging	Het
Gpr161	T	C	1: 165,138,077 (GRCm39)	L204P	probably damaging	Het
Hp	A	G	8: 110,302,339 (GRCm39)	V203A	probably damaging	Het
Krtap6-5	A	T	16: 88,844,677 (GRCm39)	C19S	unknown	Het
Lrp2	A	T	2: 69,261,496 (GRCm39)	S4482T	probably damaging	Het
Mpdz	A	T	4: 81,337,285 (GRCm39)		probably benign	Het
Or1q1	T	C	2: 36,886,915 (GRCm39)	F31S	probably damaging	Het
Or4c100	T	A	2: 88,356,498 (GRCm39)	Y190*	probably null	Het
Or8k18	T	A	2: 86,085,363 (GRCm39)	I225L	possibly damaging	Het
Papola	G	T	12: 105,775,692 (GRCm39)		probably null	Het
Prss23	T	C	7: 89,159,352 (GRCm39)	D239G	probably damaging	Het
Setd2	A	G	9: 110,382,220 (GRCm39)	T83A	unknown	Het
Sh3pxd2b	T	G	11: 32,331,443 (GRCm39)	L56V	probably damaging	Het
Ski	A	G	4: 155,245,329 (GRCm39)	S300P	probably benign	Het
Srebf2	T	C	15: 82,053,989 (GRCm39)	S17P	probably damaging	Het
Svs5	C	A	2: 164,175,260 (GRCm39)	H37Q	probably benign	Het
Tbx21	A	G	11: 97,005,567 (GRCm39)	S133P	probably benign	Het
Tgfbr3	G	T	5: 107,257,568 (GRCm39)	S830R	probably damaging	Het
Thsd1	A	T	8: 22,733,794 (GRCm39)	K280N	probably benign	Het
Tnfrsf13c	T	A	15: 82,108,513 (GRCm39)	M1L	probably benign	Het
Ttll7	T	C	3: 146,615,408 (GRCm39)	F291L	probably benign	Het
Ttn	A	G	2: 76,599,907 (GRCm39)	V10762A	probably damaging	Het

Other mutations in Lce1i

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00518:Lce1i	APN	3	92,684,911 (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

2016-08-02