Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00586:Lce1a1'

6830

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lce1a1

Ensembl Gene

ENSMUSG00000057609

Gene Name

late cornified envelope 1A1

Synonyms

2200008B06Rik, Sprrl3

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00586

Quality Score

Status

Chromosome

Chromosomal Location

92553842-92555614 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

C to T at 92554470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1 (M1I)

Ref Sequence

ENSEMBL: ENSMUSP00000073776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074142]

AlphaFold

Q9CQH5

Predicted Effect

probably null
Transcript: ENSMUST00000074142
AA Change: M1I

SMART Domains

Protein: ENSMUSP00000073776
Gene: ENSMUSG00000057609
AA Change: M1I

Domain	Start	End	E-Value	Type
Pfam:LCE	21	61	1.5e-12	PFAM
Pfam:LCE	60	120	1.7e-11	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl5b	T	C	2: 15,074,746 (GRCm39)	S76P	probably benign	Het
Asap3	A	C	4: 135,933,879 (GRCm39)	D17A	probably damaging	Het
Ccdc24	C	T	4: 117,729,243 (GRCm39)	R78H	probably damaging	Het
Crp	T	C	1: 172,526,568 (GRCm39)	F218L	probably benign	Het
Dab2	T	C	15: 6,459,306 (GRCm39)	L385P	probably benign	Het
Dip2c	C	A	13: 9,660,791 (GRCm39)	T855N	probably damaging	Het
Dnai7	A	T	6: 145,137,302 (GRCm39)	F269I	possibly damaging	Het
Dync2i1	A	T	12: 116,205,400 (GRCm39)	D396E	probably benign	Het
Ep400	A	G	5: 110,887,460 (GRCm39)	V541A	probably damaging	Het
Gbgt1	A	T	2: 28,392,207 (GRCm39)		probably null	Het
Gm6871	A	T	7: 41,195,845 (GRCm39)	D297E	possibly damaging	Het
Gpr107	T	A	2: 31,062,006 (GRCm39)	F145I	probably benign	Het
Itgb6	T	G	2: 60,450,696 (GRCm39)	D581A	probably benign	Het
Lmbrd2	G	A	15: 9,157,382 (GRCm39)	V207M	probably damaging	Het
Muc5b	T	A	7: 141,395,129 (GRCm39)	V45E	unknown	Het
Mybpc2	A	G	7: 44,154,806 (GRCm39)	V977A	probably damaging	Het
Oas1c	T	C	5: 120,946,744 (GRCm39)	T29A	probably benign	Het
Pdzd2	G	T	15: 12,365,853 (GRCm39)		probably null	Het
Plk2	T	C	13: 110,532,912 (GRCm39)	Y158H	possibly damaging	Het
Prss1l	T	C	6: 41,373,049 (GRCm39)	I107T	probably damaging	Het
Ptprq	A	G	10: 107,443,983 (GRCm39)		probably benign	Het
Rnf17	C	T	14: 56,658,539 (GRCm39)	T76I	probably damaging	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Sidt2	A	G	9: 45,854,350 (GRCm39)	V624A	possibly damaging	Het
Sin3b	T	C	8: 73,483,628 (GRCm39)	V1005A	probably benign	Het
Ubr4	T	C	4: 139,182,495 (GRCm39)	V358A	possibly damaging	Het
Zfp120	T	C	2: 149,961,748 (GRCm39)	I67V	possibly damaging	Het
Zfp942	A	T	17: 22,147,605 (GRCm39)	H341Q	probably damaging	Het

Other mutations in Lce1a1

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02987:Lce1a1	APN	3	92,554,409 (GRCm39)	missense	unknown
FR4340:Lce1a1	UTSW	3	92,554,151 (GRCm39)	missense	unknown
R1863:Lce1a1	UTSW	3	92,554,118 (GRCm39)	missense	unknown
R2171:Lce1a1	UTSW	3	92,554,048 (GRCm39)	missense	unknown
R9386:Lce1a1	UTSW	3	92,554,190 (GRCm39)	missense	unknown
R9520:Lce1a1	UTSW	3	92,554,109 (GRCm39)	missense	unknown

Posted On

2012-04-20