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

2310066F03Rik, Sprrl9

MMRRC Submission

039689-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R1653 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92763215-92765065 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92763443 bp (GRCm38)

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
9130019O22Rik	G	T	7: 127,384,480 (GRCm38)	H483Q	possibly damaging	Het
Adam34	A	T	8: 43,650,645 (GRCm38)	C654*	probably null	Het
Adamts19	T	A	18: 58,890,293 (GRCm38)	N253K	probably benign	Het
Adgrb3	A	G	1: 25,101,503 (GRCm38)	L1162S	probably benign	Het
Ap2b1	T	A	11: 83,346,831 (GRCm38)	Y574N	probably damaging	Het
Atrn	A	G	2: 130,935,624 (GRCm38)	I198V	probably benign	Het
Bcan	T	A	3: 87,994,196 (GRCm38)	I400F	probably damaging	Het
Capn10	A	G	1: 92,946,898 (GRCm38)	Y617C	probably damaging	Het
Capn8	A	G	1: 182,623,951 (GRCm38)	N578D	probably benign	Het
Casd1	T	C	6: 4,624,134 (GRCm38)	L309P	probably benign	Het
Ccser1	T	A	6: 61,311,465 (GRCm38)	I204K	probably benign	Het
Cd276	T	C	9: 58,537,449 (GRCm38)	T80A	probably benign	Het
Cdh3	T	C	8: 106,539,068 (GRCm38)	S248P	probably damaging	Het
Celsr2	T	C	3: 108,413,520 (GRCm38)	T659A	possibly damaging	Het
Col6a4	C	T	9: 106,072,409 (GRCm38)	V676I	probably damaging	Het
Crmp1	T	A	5: 37,286,468 (GRCm38)	V575D	probably damaging	Het
Ep400	G	A	5: 110,693,174 (GRCm38)	Q1795*	probably null	Het
Gcnt3	A	G	9: 70,035,077 (GRCm38)	C70R	probably damaging	Het
Gm12258	T	C	11: 58,858,287 (GRCm38)	I96T	possibly damaging	Het
Gpr183	A	G	14: 121,954,263 (GRCm38)	F282S	probably damaging	Het
Igfals	T	C	17: 24,881,078 (GRCm38)	V381A	probably benign	Het
Irs3	C	A	5: 137,644,521 (GRCm38)	L218F	probably damaging	Het
Kdm5b	T	C	1: 134,602,481 (GRCm38)	F410S	probably damaging	Het
Klc4	T	C	17: 46,631,859 (GRCm38)	Y593C	possibly damaging	Het
Lyst	T	C	13: 13,635,226 (GRCm38)	S494P	probably damaging	Het
March3	A	G	18: 56,811,895 (GRCm38)	M42T	probably benign	Het
Myh7	A	G	14: 54,990,789 (GRCm38)	I250T	probably benign	Het
N4bp1	G	T	8: 86,844,948 (GRCm38)	H807Q	probably benign	Het
Ndn	C	T	7: 62,348,508 (GRCm38)	P34L	probably benign	Het
Nfs1	C	T	2: 156,125,336 (GRCm38)	G44D	probably damaging	Het
Nrg1	C	T	8: 31,818,653 (GRCm38)	R445H	probably damaging	Het
Olfr1507	A	T	14: 52,490,772 (GRCm38)	F64Y	probably damaging	Het
Olfr299	T	C	7: 86,466,212 (GRCm38)	V267A	probably benign	Het
Olfr683	T	A	7: 105,143,870 (GRCm38)	D141V	possibly damaging	Het
Pak7	C	T	2: 136,116,887 (GRCm38)	V94M	probably damaging	Het
Pdk1	G	A	2: 71,888,995 (GRCm38)		probably null	Het
Sin3b	G	T	8: 72,741,519 (GRCm38)	V290L	probably benign	Het
Sirt1	T	C	10: 63,321,809 (GRCm38)	T609A	probably benign	Het
Skint5	A	T	4: 113,490,678 (GRCm38)	S1289T	unknown	Het
Slc32a1	A	T	2: 158,614,889 (GRCm38)	H488L	probably benign	Het
Slc35b3	A	G	13: 38,955,798 (GRCm38)	S18P	probably benign	Het
Spaca7	T	A	8: 12,586,501 (GRCm38)	I109K	possibly damaging	Het
Tmem204	A	G	17: 25,080,527 (GRCm38)	L6P	possibly damaging	Het
Tubgcp6	G	A	15: 89,107,442 (GRCm38)	R651C	probably damaging	Het
Vps13b	T	A	15: 35,607,272 (GRCm38)	L1117*	probably null	Het
Wdcp	T	C	12: 4,851,815 (GRCm38)	L557P	probably damaging	Het
Wwp2	T	C	8: 107,483,410 (GRCm38)	F140S	possibly damaging	Het
Zfp429	C	T	13: 67,389,924 (GRCm38)	R467H	possibly damaging	Het
Zfp839	T	A	12: 110,855,250 (GRCm38)	M166K	probably benign	Het
Zfyve9	G	A	4: 108,660,577 (GRCm38)	Q1106*	probably null	Het
Zrsr1	T	A	11: 22,974,158 (GRCm38)	C311S	probably damaging	Het

Other mutations in Lce1h

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02487:Lce1h	APN	3	92,763,741 (GRCm38)	missense	unknown
R3153:Lce1h	UTSW	3	92,763,675 (GRCm38)	missense	unknown
R4688:Lce1h	UTSW	3	92,763,567 (GRCm38)	missense	unknown
R4867:Lce1h	UTSW	3	92,763,463 (GRCm38)	missense	unknown
R5439:Lce1h	UTSW	3	92,763,720 (GRCm38)	missense	unknown
R8939:Lce1h	UTSW	3	92,763,669 (GRCm38)	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