Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02733:Lce1k'

305566

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lce1k

Ensembl Gene

ENSMUSG00000095870

Gene Name

late cornified envelope 1K

Synonyms

Sprrl6, Gm7055

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

IGL02733

Quality Score

Status

Chromosome

Chromosomal Location

92713598-92715198 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to A at 92714192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137052 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179917]

AlphaFold

J3QP15

Predicted Effect

probably benign
Transcript: ENSMUST00000179917

SMART Domains

Protein: ENSMUSP00000137052
Gene: ENSMUSG00000095870

Domain	Start	End	E-Value	Type
Pfam:LCE	22	62	3e-10	PFAM
Pfam:LCE	59	125	1.9e-12	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat1	T	A	4: 49,447,793 (GRCm39)	T245S	probably benign	Het
Agl	T	C	3: 116,574,646 (GRCm39)	I718V	probably benign	Het
Cbs	T	A	17: 31,844,005 (GRCm39)	N209Y	probably benign	Het
Cd163	T	C	6: 124,302,300 (GRCm39)	C955R	probably damaging	Het
Dnajb3	A	G	1: 88,132,662 (GRCm39)		probably benign	Het
Dop1b	G	A	16: 93,536,079 (GRCm39)	R59Q	possibly damaging	Het
Dtx1	A	G	5: 120,819,500 (GRCm39)	L566P	probably damaging	Het
Fgf14	G	T	14: 124,221,213 (GRCm39)	P197Q	probably damaging	Het
Gask1a	A	G	9: 121,794,094 (GRCm39)	R83G	probably benign	Het
Gcc1	G	A	6: 28,420,661 (GRCm39)	Q66*	probably null	Het
Gypc	T	C	18: 32,692,879 (GRCm39)		probably benign	Het
Helz2	G	A	2: 180,876,819 (GRCm39)	A1225V	probably benign	Het
Herc1	A	G	9: 66,358,274 (GRCm39)	T2452A	probably benign	Het
Hoxc4	A	G	15: 102,943,152 (GRCm39)	I2V	probably benign	Het
Impa1	A	G	3: 10,394,025 (GRCm39)	I14T	probably benign	Het
Itih1	T	A	14: 30,658,677 (GRCm39)	D400V	probably damaging	Het
Lama3	T	C	18: 12,711,184 (GRCm39)	Y3206H	probably damaging	Het
Mcpt4	C	T	14: 56,298,124 (GRCm39)	M142I	probably benign	Het
Myo15b	A	G	11: 115,775,076 (GRCm39)	E2168G	probably benign	Het
Myom3	G	T	4: 135,541,614 (GRCm39)	E1402*	probably null	Het
Nfyb	G	T	10: 82,590,867 (GRCm39)	Q55K	probably damaging	Het
Nobox	T	C	6: 43,284,136 (GRCm39)	K137E	possibly damaging	Het
Pnlip	T	A	19: 58,669,220 (GRCm39)	D406E	probably benign	Het
Pole	A	T	5: 110,460,594 (GRCm39)		probably benign	Het
Ppp2r2b	T	C	18: 42,781,793 (GRCm39)	Y336C	possibly damaging	Het
Prkg1	T	C	19: 31,279,701 (GRCm39)	T178A	probably damaging	Het
Prr11	C	T	11: 86,994,371 (GRCm39)	A92T	possibly damaging	Het
Racgap1	G	T	15: 99,537,585 (GRCm39)	S67R	probably damaging	Het
Scn10a	G	A	9: 119,445,771 (GRCm39)	P1462S	probably damaging	Het
Sptbn1	T	C	11: 30,147,747 (GRCm39)	E29G	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Vmn2r72	T	A	7: 85,401,021 (GRCm39)	T133S	probably benign	Het
Zbtb20	A	G	16: 43,430,296 (GRCm39)	H269R	possibly damaging	Het
Zwilch	A	T	9: 64,054,118 (GRCm39)	N526K	probably benign	Het

Other mutations in Lce1k

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL03019:Lce1k	APN	3	92,714,086 (GRCm39)	missense	unknown
R1990:Lce1k	UTSW	3	92,714,125 (GRCm39)	missense	unknown
R1991:Lce1k	UTSW	3	92,714,125 (GRCm39)	missense	unknown
R1992:Lce1k	UTSW	3	92,714,125 (GRCm39)	missense	unknown
R2024:Lce1k	UTSW	3	92,713,809 (GRCm39)	missense	unknown
R2065:Lce1k	UTSW	3	92,714,164 (GRCm39)	nonsense	probably null
R2361:Lce1k	UTSW	3	92,713,891 (GRCm39)	missense	unknown
R2906:Lce1k	UTSW	3	92,713,882 (GRCm39)	missense	unknown
R4688:Lce1k	UTSW	3	92,713,951 (GRCm39)	missense	unknown
R4902:Lce1k	UTSW	3	92,714,134 (GRCm39)	missense	unknown
R7405:Lce1k	UTSW	3	92,714,181 (GRCm39)	start codon destroyed	probably null
R8917:Lce1k	UTSW	3	92,714,097 (GRCm39)	missense	unknown

Posted On

2015-04-16