Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02487:Lce1h'

295467

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lce1h

Ensembl Gene

ENSMUSG00000049593

Gene Name

late cornified envelope 1H

Synonyms

Sprrl9, 2310066F03Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02487

Quality Score

Status

Chromosome

Chromosomal Location

92670522-92672372 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 92671048 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 35 (P35S)

Ref Sequence

ENSEMBL: ENSMUSP00000058647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051521]

AlphaFold

Q9D6R3

Predicted Effect

unknown
Transcript: ENSMUST00000051521
AA Change: P35S

SMART Domains

Protein: ENSMUSP00000058647
Gene: ENSMUSG00000049593
AA Change: P35S

Domain	Start	End	E-Value	Type
low complexity region	2	39	N/A	INTRINSIC
Pfam:LCE	59	121	6e-10	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	T	A	11: 54,227,769 (GRCm39)	I308N	possibly damaging	Het
Adal	C	T	2: 120,985,877 (GRCm39)	T204I	probably benign	Het
Akirin1	A	G	4: 123,637,357 (GRCm39)	F76S	probably benign	Het
Arhgef5	A	T	6: 43,260,916 (GRCm39)	N1447I	probably damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
B230217C12Rik	A	G	11: 97,733,054 (GRCm39)	N125S	probably benign	Het
Dcaf11	G	T	14: 55,806,571 (GRCm39)	K457N	probably benign	Het
Dnah10	G	A	5: 124,870,916 (GRCm39)	V2348M	possibly damaging	Het
Eif4g3	T	C	4: 137,930,689 (GRCm39)	V1665A	possibly damaging	Het
Fat4	A	T	3: 38,941,394 (GRCm39)	I96F	probably damaging	Het
Gm29253	T	C	1: 75,149,321 (GRCm39)		probably null	Het
Gvin-ps6	A	G	7: 106,022,471 (GRCm39)		noncoding transcript	Het
Hnrnpm	C	A	17: 33,867,787 (GRCm39)	G676C	probably damaging	Het
Iah1	T	C	12: 21,371,440 (GRCm39)	M185T	probably damaging	Het
Klc1	A	T	12: 111,738,886 (GRCm39)	I45F	probably damaging	Het
Lrrc37a	T	C	11: 103,386,863 (GRCm39)	E2419G	unknown	Het
Lrrc8c	T	A	5: 105,754,457 (GRCm39)	S77R	probably benign	Het
Mcm3ap	T	A	10: 76,343,389 (GRCm39)		probably benign	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Ntng1	A	T	3: 109,842,363 (GRCm39)	S137T	probably damaging	Het
Odf2	C	A	2: 29,810,851 (GRCm39)	A578E	possibly damaging	Het
Pecam1	G	A	11: 106,562,606 (GRCm39)	T698I	probably damaging	Het
Pex10	A	T	4: 155,155,190 (GRCm39)	H288L	probably damaging	Het
Pkhd1l1	T	C	15: 44,322,822 (GRCm39)	V36A	possibly damaging	Het
Podxl	T	C	6: 31,499,957 (GRCm39)	*504W	probably null	Het
Rab42	A	G	4: 132,029,614 (GRCm39)	S203P	probably benign	Het
Rsf1	T	C	7: 97,288,698 (GRCm39)	S192P	probably damaging	Het
Scap	C	T	9: 110,207,758 (GRCm39)	T489I	probably benign	Het
Sost	C	A	11: 101,857,633 (GRCm39)	R56L	possibly damaging	Het
Speer4a3	T	A	5: 26,156,605 (GRCm39)	I125F	probably benign	Het
Spmip10	T	A	18: 56,727,571 (GRCm39)	W90R	possibly damaging	Het
Sptbn4	A	G	7: 27,118,522 (GRCm39)	V264A	probably damaging	Het
Stx3	A	G	19: 11,760,469 (GRCm39)	V236A	probably damaging	Het
Syt2	T	C	1: 134,668,603 (GRCm39)	F5S	probably damaging	Het
Thrap3	T	C	4: 126,060,794 (GRCm39)	D855G	possibly damaging	Het
Ticrr	T	C	7: 79,332,769 (GRCm39)	V874A	possibly damaging	Het
Tmem26	A	G	10: 68,614,563 (GRCm39)	E326G	probably benign	Het
Tsga13	A	T	6: 30,884,362 (GRCm39)	Y119N	probably damaging	Het
Tspoap1	C	T	11: 87,653,342 (GRCm39)	T136I	possibly damaging	Het
Ttc21b	T	C	2: 66,065,500 (GRCm39)	T425A	probably benign	Het
Ttc27	A	G	17: 75,163,549 (GRCm39)	Y719C	probably damaging	Het
Usp10	C	A	8: 120,675,514 (GRCm39)	S511Y	probably damaging	Het
Vmn1r197	A	G	13: 22,512,792 (GRCm39)	M238V	probably damaging	Het

Other mutations in Lce1h

Allele	Source	Chr	Coord	Type	Predicted Effect
R1653:Lce1h	UTSW	3	92,670,750 (GRCm39)	missense	unknown
R3153:Lce1h	UTSW	3	92,670,982 (GRCm39)	missense	unknown
R4688:Lce1h	UTSW	3	92,670,874 (GRCm39)	missense	unknown
R4867:Lce1h	UTSW	3	92,670,770 (GRCm39)	missense	unknown
R5439:Lce1h	UTSW	3	92,671,027 (GRCm39)	missense	unknown
R8939:Lce1h	UTSW	3	92,670,976 (GRCm39)	missense	unknown

Posted On

2015-04-16