Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00492:Lce1j'

332216

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lce1j

Ensembl Gene

ENSMUSG00000068887

Gene Name

late cornified envelope 1J

Synonyms

Sprrl8

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL00492

Quality Score

Status

Chromosome

Chromosomal Location

92696151-92697821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92696713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 22 (T22A)

Ref Sequence

ENSEMBL: ENSMUSP00000140507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107304] [ENSMUST00000186525]

AlphaFold

D3YUU5

Predicted Effect

unknown
Transcript: ENSMUST00000107304
AA Change: T22A

SMART Domains

Protein: ENSMUSP00000102925
Gene: ENSMUSG00000068887
AA Change: T22A

Domain	Start	End	E-Value	Type
Pfam:LCE	21	63	5e-12	PFAM
Pfam:LCE	60	125	1.1e-9	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000186525
AA Change: T22A

SMART Domains

Protein: ENSMUSP00000140507
Gene: ENSMUSG00000068887
AA Change: T22A

Domain	Start	End	E-Value	Type
Pfam:LCE	21	63	4.2e-10	PFAM
Pfam:LCE	60	126	8.5e-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
Arhgap29	G	T	3: 121,796,961 (GRCm39)	E108*	probably null	Het
Braf	A	T	6: 39,637,933 (GRCm39)		probably null	Het
Calr3	G	A	8: 73,185,240 (GRCm39)	Q112*	probably null	Het
Dis3	A	G	14: 99,320,110 (GRCm39)	I649T	probably damaging	Het
Dop1b	T	C	16: 93,577,670 (GRCm39)	V65A	probably benign	Het
Dpp4	A	G	2: 62,209,646 (GRCm39)	Y126H	probably damaging	Het
Dtwd2	A	T	18: 49,856,776 (GRCm39)	Y170*	probably null	Het
Efcab7	A	G	4: 99,719,700 (GRCm39)	T61A	probably benign	Het
Fbxl3	G	T	14: 103,332,730 (GRCm39)	L83M	probably damaging	Het
Fbxo17	A	C	7: 28,434,766 (GRCm39)	S184R	probably damaging	Het
Fcf1	T	C	12: 85,029,106 (GRCm39)		probably null	Het
Hcrtr2	T	C	9: 76,153,723 (GRCm39)	Y223C	probably damaging	Het
Kcnn1	A	G	8: 71,300,706 (GRCm39)	F432S	probably benign	Het
Kmt2a	C	T	9: 44,719,231 (GRCm39)		probably benign	Het
Lrfn5	T	A	12: 61,890,912 (GRCm39)	S734T	probably benign	Het
Lyst	T	A	13: 13,852,760 (GRCm39)	S2253R	possibly damaging	Het
Msantd5f1	C	T	4: 73,605,570 (GRCm39)	T327I	probably damaging	Het
Myrfl	G	A	10: 116,632,011 (GRCm39)	L645F	possibly damaging	Het
Nudt9	A	G	5: 104,209,628 (GRCm39)		probably benign	Het
Ostn	T	A	16: 27,140,132 (GRCm39)	M15K	possibly damaging	Het
Psg20	T	C	7: 18,408,536 (GRCm39)	T395A	possibly damaging	Het
Rpf1	G	A	3: 146,218,002 (GRCm39)	H171Y	probably benign	Het
Shprh	A	G	10: 11,063,902 (GRCm39)	E1325G	probably damaging	Het
Slc22a8	G	T	19: 8,571,499 (GRCm39)	V77L	probably benign	Het
Tbck	A	C	3: 132,428,501 (GRCm39)	K285N	probably benign	Het
Vmn1r86	C	T	7: 12,836,468 (GRCm39)	C86Y	possibly damaging	Het
Zdhhc20	A	G	14: 58,111,381 (GRCm39)	I73T	probably damaging	Het
Zfp512b	T	C	2: 181,228,862 (GRCm39)	D701G	probably damaging	Het
Zfp735	T	A	11: 73,602,192 (GRCm39)	Y379N	possibly damaging	Het
Znfx1	G	T	2: 166,878,843 (GRCm39)	H980Q	probably damaging	Het

Other mutations in Lce1j

Allele	Source	Chr	Coord	Type	Predicted Effect
R0386:Lce1j	UTSW	3	92,696,695 (GRCm39)	missense	unknown
R6047:Lce1j	UTSW	3	92,696,503 (GRCm39)	missense	unknown
R6155:Lce1j	UTSW	3	92,696,379 (GRCm39)	missense	unknown
R6468:Lce1j	UTSW	3	92,696,729 (GRCm39)	nonsense	probably null
R6844:Lce1j	UTSW	3	92,696,656 (GRCm39)	missense	unknown
R7156:Lce1j	UTSW	3	92,696,491 (GRCm39)	missense	unknown
R7953:Lce1j	UTSW	3	92,696,390 (GRCm39)	nonsense	probably null

Posted On

2015-08-05