Mutagenetix > Incidental Mutations

Incidental Mutation 'R7621:Lce1m'

628298

Institutional Source

Beutler Lab

Gene Symbol

Lce1m

Ensembl Gene

ENSMUSG00000027912

Gene Name

late cornified envelope 1M

Synonyms

Sprrl10, Lce5a, 1110059L13Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

R7621 (G1)

Quality Score

89.0077

Status

Validated

Chromosome

Chromosomal Location

93017810-93019060 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 93017870 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029520 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029520] [ENSMUST00000029521] [ENSMUST00000107301] [ENSMUST00000193944]

AlphaFold

Q9CR91

Predicted Effect

probably null
Transcript: ENSMUST00000029520

SMART Domains

Protein: ENSMUSP00000029520
Gene: ENSMUSG00000027912

Domain	Start	End	E-Value	Type
Pfam:LCE	9	96	5.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000029521

SMART Domains

Protein: ENSMUSP00000029521
Gene: ENSMUSG00000027913

Domain	Start	End	E-Value	Type
low complexity region	12	102	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107301

SMART Domains

Protein: ENSMUSP00000102922
Gene: ENSMUSG00000027913

Domain	Start	End	E-Value	Type
Pfam:NICE-1	5	100	5.4e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193944

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	G	A	7: 140,296,829	G711D	probably damaging	Het
Abca9	T	A	11: 110,160,533	K112N	probably benign	Het
Brwd1	A	G	16: 96,064,887	S232P	probably damaging	Het
Calm5	A	T	13: 3,854,629	M108L	possibly damaging	Het
Ces1g	A	T	8: 93,328,466	V201D	probably damaging	Het
Cltc	C	A	11: 86,707,486	V1017L	probably benign	Het
Cpt1c	C	T	7: 44,967,092	R245Q	probably damaging	Het
Csrnp1	C	A	9: 119,977,092	A39S	probably benign	Het
Elf1	A	G	14: 79,570,882	D258G	possibly damaging	Het
Fam189a2	A	C	19: 23,994,804	S179A	possibly damaging	Het
Glipr1l1	A	T	10: 112,060,395	D29V	probably benign	Het
Gm4340	T	C	10: 104,195,959	V188A	probably benign	Het
Gsdma2	T	C	11: 98,649,549	M98T	probably benign	Het
Hars	A	T	18: 36,770,423	D315E	probably benign	Het
Hsph1	A	C	5: 149,632,075	Y89D	probably damaging	Het
Ighv11-2	T	A	12: 114,048,388	D69V	probably benign	Het
Kirrel	C	T	3: 87,088,221	G438D	possibly damaging	Het
Krt6a	G	T	15: 101,691,752	T355K	possibly damaging	Het
Lmbrd1	A	T	1: 24,728,544		probably null	Het
Lmtk3	A	G	7: 45,793,417	E508G	probably damaging	Het
Lrrc2	G	A	9: 110,980,831	V312I	probably benign	Het
Lyn	A	T	4: 3,789,834	K477*	probably null	Het
Nfe2l2	T	C	2: 75,679,413	D21G	probably damaging	Het
Olfr1316	T	C	2: 112,130,581	T77A	probably benign	Het
Olfr297	G	A	7: 86,527,072	C105Y	probably benign	Het
Olfr543	G	A	7: 102,477,265	R202C	possibly damaging	Het
Olfr893	T	C	9: 38,209,151	F31L	probably benign	Het
Pkm	T	A	9: 59,678,158	C474*	probably null	Het
Prr36	T	A	8: 4,213,150	I839F	unknown	Het
Qtrt2	A	G	16: 43,868,940		probably null	Het
Ripk4	A	T	16: 97,745,925	V379E	probably damaging	Het
Rreb1	C	A	13: 37,949,066	P304Q		Het
Saxo2	A	T	7: 82,648,417	C5S	possibly damaging	Het
Sema5a	C	A	15: 32,609,232	T428N	possibly damaging	Het
Setd5	C	A	6: 113,144,049	P1073Q	possibly damaging	Het
Sh2d5	T	G	4: 138,256,839	C173G	probably benign	Het
Slc4a10	T	G	2: 62,250,479	V350G	probably damaging	Het
Slco1a6	A	G	6: 142,161,017	C15R	probably damaging	Het
Smg7	A	T	1: 152,841,544	F940Y	possibly damaging	Het
Spata17	T	A	1: 187,122,636		probably null	Het
Specc1	A	G	11: 62,128,384	N603S	possibly damaging	Het
Tbc1d1	A	G	5: 64,264,330	D355G	probably damaging	Het
Thbs2	T	C	17: 14,674,164	D807G	probably benign	Het
Tmem8	C	A	17: 26,117,891	P261Q	probably benign	Het
Usp53	T	C	3: 122,961,285	T174A	probably benign	Het
Vmn2r52	A	G	7: 10,173,347	Y151H	probably benign	Het
Wdr12	G	A	1: 60,097,589		probably benign	Het

Other mutations in Lce1m

Allele	Source	Chr	Coord	Type	Predicted Effect
FR4342:Lce1m	UTSW	3	93018247	unclassified	probably benign
FR4449:Lce1m	UTSW	3	93018152	unclassified	probably benign
FR4589:Lce1m	UTSW	3	93018268	unclassified	probably benign
FR4976:Lce1m	UTSW	3	93018148	unclassified	probably benign
R1513:Lce1m	UTSW	3	93018625	unclassified	probably benign
R7753:Lce1m	UTSW	3	93018508	missense	unknown
RF001:Lce1m	UTSW	3	93018152	unclassified	probably benign
RF001:Lce1m	UTSW	3	93018269	unclassified	probably benign
RF002:Lce1m	UTSW	3	93018283	unclassified	probably benign
RF002:Lce1m	UTSW	3	93018299	unclassified	probably benign
RF007:Lce1m	UTSW	3	93018144	unclassified	probably benign
RF009:Lce1m	UTSW	3	93018131	unclassified	probably benign
RF010:Lce1m	UTSW	3	93018290	unclassified	probably benign
RF015:Lce1m	UTSW	3	93018148	unclassified	probably benign
RF021:Lce1m	UTSW	3	93018269	unclassified	probably benign
RF021:Lce1m	UTSW	3	93018295	unclassified	probably benign
RF023:Lce1m	UTSW	3	93018280	unclassified	probably benign
RF026:Lce1m	UTSW	3	93018138	unclassified	probably benign
RF026:Lce1m	UTSW	3	93018143	unclassified	probably benign
RF028:Lce1m	UTSW	3	93018131	unclassified	probably benign
RF030:Lce1m	UTSW	3	93018141	unclassified	probably benign
RF030:Lce1m	UTSW	3	93018344	unclassified	probably benign
RF037:Lce1m	UTSW	3	93018300	unclassified	probably benign
RF041:Lce1m	UTSW	3	93018141	unclassified	probably benign
RF042:Lce1m	UTSW	3	93018139	unclassified	probably benign
RF045:Lce1m	UTSW	3	93018292	unclassified	probably benign
RF046:Lce1m	UTSW	3	93018293	unclassified	probably benign
RF054:Lce1m	UTSW	3	93018298	unclassified	probably benign
RF059:Lce1m	UTSW	3	93018329	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTGTGCAAGTTGGTATAAGGG -3'
(R):5'- TTGACTGAAGACCTGCAAGC -3'

Sequencing Primer
(F):5'- GCCTCAGAGTACTAAGTTTTAAGTGG -3'
(R):5'- CTGAAGACCTGCAAGCCTAGG -3'

Posted On

2020-02-27