Mutagenetix > Incidental Mutation

Incidental Mutation 'R1653:Lce1h'

188841

Institutional Source

Beutler Lab

Gene Symbol

Lce1h

Ensembl Gene

ENSMUSG00000049593

Gene Name

late cornified envelope 1H

Synonyms

Sprrl9, 2310066F03Rik

MMRRC Submission

039689-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R1653 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92670522-92672372 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92670750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 134 (Q134L)

Ref Sequence

ENSEMBL: ENSMUSP00000058647 (fasta)

Gene Model

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

AlphaFold

Q9D6R3

Predicted Effect

unknown
Transcript: ENSMUST00000051521
AA Change: Q134L

SMART Domains

Protein: ENSMUSP00000058647
Gene: ENSMUSG00000049593
AA Change: Q134L

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	A	T	8: 44,103,682 (GRCm39)	C654*	probably null	Het
Adamts19	T	A	18: 59,023,365 (GRCm39)	N253K	probably benign	Het
Adgrb3	A	G	1: 25,140,584 (GRCm39)	L1162S	probably benign	Het
Ap2b1	T	A	11: 83,237,657 (GRCm39)	Y574N	probably damaging	Het
Atrn	A	G	2: 130,777,544 (GRCm39)	I198V	probably benign	Het
Bcan	T	A	3: 87,901,503 (GRCm39)	I400F	probably damaging	Het
Capn10	A	G	1: 92,874,620 (GRCm39)	Y617C	probably damaging	Het
Capn8	A	G	1: 182,451,516 (GRCm39)	N578D	probably benign	Het
Casd1	T	C	6: 4,624,134 (GRCm39)	L309P	probably benign	Het
Ccser1	T	A	6: 61,288,449 (GRCm39)	I204K	probably benign	Het
Cd276	T	C	9: 58,444,732 (GRCm39)	T80A	probably benign	Het
Cdh3	T	C	8: 107,265,700 (GRCm39)	S248P	probably damaging	Het
Celsr2	T	C	3: 108,320,836 (GRCm39)	T659A	possibly damaging	Het
Col6a4	C	T	9: 105,949,608 (GRCm39)	V676I	probably damaging	Het
Crmp1	T	A	5: 37,443,812 (GRCm39)	V575D	probably damaging	Het
Ep400	G	A	5: 110,841,040 (GRCm39)	Q1795*	probably null	Het
Gcnt3	A	G	9: 69,942,359 (GRCm39)	C70R	probably damaging	Het
Gm12258	T	C	11: 58,749,113 (GRCm39)	I96T	possibly damaging	Het
Gpr183	A	G	14: 122,191,675 (GRCm39)	F282S	probably damaging	Het
Igfals	T	C	17: 25,100,052 (GRCm39)	V381A	probably benign	Het
Irs3	C	A	5: 137,642,783 (GRCm39)	L218F	probably damaging	Het
Kdm5b	T	C	1: 134,530,219 (GRCm39)	F410S	probably damaging	Het
Klc4	T	C	17: 46,942,785 (GRCm39)	Y593C	possibly damaging	Het
Lyst	T	C	13: 13,809,811 (GRCm39)	S494P	probably damaging	Het
Marchf3	A	G	18: 56,944,967 (GRCm39)	M42T	probably benign	Het
Myh7	A	G	14: 55,228,246 (GRCm39)	I250T	probably benign	Het
N4bp1	G	T	8: 87,571,576 (GRCm39)	H807Q	probably benign	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Nfs1	C	T	2: 155,967,256 (GRCm39)	G44D	probably damaging	Het
Nrg1	C	T	8: 32,308,681 (GRCm39)	R445H	probably damaging	Het
Or14c43	T	C	7: 86,115,420 (GRCm39)	V267A	probably benign	Het
Or4e5	A	T	14: 52,728,229 (GRCm39)	F64Y	probably damaging	Het
Or56a5	T	A	7: 104,793,077 (GRCm39)	D141V	possibly damaging	Het
Pak5	C	T	2: 135,958,807 (GRCm39)	V94M	probably damaging	Het
Pdk1	G	A	2: 71,719,339 (GRCm39)		probably null	Het
Sin3b	G	T	8: 73,468,147 (GRCm39)	V290L	probably benign	Het
Sirt1	T	C	10: 63,157,588 (GRCm39)	T609A	probably benign	Het
Skint5	A	T	4: 113,347,875 (GRCm39)	S1289T	unknown	Het
Slc32a1	A	T	2: 158,456,809 (GRCm39)	H488L	probably benign	Het
Slc35b3	A	G	13: 39,139,774 (GRCm39)	S18P	probably benign	Het
Spaca7	T	A	8: 12,636,501 (GRCm39)	I109K	possibly damaging	Het
Tmem204	A	G	17: 25,299,501 (GRCm39)	L6P	possibly damaging	Het
Tubgcp6	G	A	15: 88,991,645 (GRCm39)	R651C	probably damaging	Het
Vps13b	T	A	15: 35,607,418 (GRCm39)	L1117*	probably null	Het
Wdcp	T	C	12: 4,901,815 (GRCm39)	L557P	probably damaging	Het
Wwp2	T	C	8: 108,210,042 (GRCm39)	F140S	possibly damaging	Het
Zfp429	C	T	13: 67,538,043 (GRCm39)	R467H	possibly damaging	Het
Zfp747l1	G	T	7: 126,983,652 (GRCm39)	H483Q	possibly damaging	Het
Zfp839	T	A	12: 110,821,684 (GRCm39)	M166K	probably benign	Het
Zfyve9	G	A	4: 108,517,774 (GRCm39)	Q1106*	probably null	Het
Zrsr2-ps1	T	A	11: 22,924,158 (GRCm39)	C311S	probably damaging	Het

Other mutations in Lce1h

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02487:Lce1h	APN	3	92,671,048 (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

Predicted Primers

PCR Primer
(F):5'- TGAGGACAATGCAGAACATTTCCCAG -3'
(R):5'- CATGATTCTCTCACAGCTCCTGAACAC -3'

Sequencing Primer
(F):5'- TCTTCTGAGCATGTGCTCCT -3'
(R):5'- tgccctccaaaatgccc -3'

Posted On

2014-05-09