Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01373:Lmcd1'

278484

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lmcd1

Ensembl Gene

ENSMUSG00000057604

Gene Name

LIM and cysteine-rich domains 1

Synonyms

dyxin

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01373

Quality Score

Status

Chromosome

Chromosomal Location

112273758-112330425 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112310625 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 91 (I91V)

Ref Sequence

ENSEMBL: ENSMUSP00000032376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032376]

Predicted Effect

probably benign
Transcript: ENSMUST00000032376
AA Change: I91V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032376
Gene: ENSMUSG00000057604
AA Change: I91V

Domain	Start	End	E-Value	Type
Pfam:PET	107	201	4.9e-39	PFAM
LIM	242	299	7.29e-8	SMART
LIM	307	359	1.97e-13	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the LIM-domain family of zinc finger proteins. The encoded protein contains an N-terminal cysteine-rich domain and two C-terminal LIM domains. The presence of LIM domains suggests involvement in protein-protein interactions. The protein may act as a co-regulator of transcription along with other transcription factors. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	C	T	7: 119,711,419	R510*	probably null	Het
Adamts12	A	T	15: 11,310,730	E1024D	probably benign	Het
Aff2	T	A	X: 69,867,729	D1239E	possibly damaging	Het
Agps	T	C	2: 75,852,784	V151A	probably benign	Het
Cables1	A	T	18: 11,888,764	R276S	probably damaging	Het
Cep72	A	G	13: 74,059,459	S64P	probably damaging	Het
Cmah	A	T	13: 24,430,549	D159V	probably damaging	Het
Cox6a1	C	A	5: 115,345,839		probably benign	Het
Cpxm1	T	C	2: 130,394,135	E369G	probably damaging	Het
Dnah6	A	G	6: 73,074,748	L3021P	probably benign	Het
Esyt1	T	C	10: 128,518,941	E530G	possibly damaging	Het
Fancd2	A	G	6: 113,553,752	I449V	probably benign	Het
Fbxw24	C	T	9: 109,623,633	G98D	probably damaging	Het
Folh1	T	C	7: 86,746,142	I361V	probably benign	Het
Gm12666	A	G	4: 92,191,625	V42A	probably damaging	Het
Gpr19	T	A	6: 134,870,321	H41L	possibly damaging	Het
Kcnq4	A	G	4: 120,717,032	V143A	probably damaging	Het
Lpin3	G	T	2: 160,903,729	D651Y	probably damaging	Het
Ms4a6b	A	T	19: 11,529,507	H220L	possibly damaging	Het
Mxd4	G	A	5: 34,184,346		probably benign	Het
Nxnl2	T	C	13: 51,171,452	F44L	probably damaging	Het
Olfr698	T	C	7: 106,752,446		probably benign	Het
Olfr744	T	A	14: 50,618,612	I130N	probably damaging	Het
Pcdhb20	A	T	18: 37,506,568	R716W	probably benign	Het
Pcx	T	A	19: 4,620,235		probably null	Het
Plekhf1	T	C	7: 38,221,797	T116A	probably benign	Het
Psmb2	G	T	4: 126,687,092	R93L	probably damaging	Het
Pstpip2	T	A	18: 77,835,216	L42*	probably null	Het
Ptpn22	A	T	3: 103,886,204	D557V	probably damaging	Het
Rbbp5	G	A	1: 132,492,601	V191I	probably benign	Het
Rgs1	T	A	1: 144,245,378	D185V	probably damaging	Het
Selenoh	A	G	2: 84,670,594		probably benign	Het
Slc6a5	C	T	7: 49,917,733	P312S	probably benign	Het
Snapc1	T	A	12: 73,964,680	M40K	probably benign	Het
Sptbn2	T	G	19: 4,745,972	Y1726*	probably null	Het
Syne2	T	C	12: 75,987,107	I3710T	probably damaging	Het
Tdrd9	G	A	12: 112,040,434	V911M	probably damaging	Het
Tex9	A	T	9: 72,480,754	D134E	possibly damaging	Het
Ttc41	G	T	10: 86,775,957	C1063F	possibly damaging	Het
Usp38	C	A	8: 80,990,018	A496S	possibly damaging	Het
Vmn2r13	T	A	5: 109,156,702	Y621F	probably damaging	Het
Vmn2r67	T	A	7: 85,136,626	M724L	probably benign	Het

Other mutations in Lmcd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Lmcd1	APN	6	112329808	missense	probably benign	0.29
IGL00963:Lmcd1	APN	6	112329934	missense	probably damaging	1.00
IGL01339:Lmcd1	APN	6	112310625	missense	probably benign
IGL03088:Lmcd1	APN	6	112310688	missense	probably damaging	1.00
IGL03090:Lmcd1	APN	6	112310499	missense	probably benign	0.32
R0940:Lmcd1	UTSW	6	112328697	missense	probably benign	0.01
R1144:Lmcd1	UTSW	6	112310751	splice site	probably benign
R1245:Lmcd1	UTSW	6	112315712	missense	probably benign	0.01
R1338:Lmcd1	UTSW	6	112305128	missense	probably damaging	1.00
R1567:Lmcd1	UTSW	6	112310565	missense	probably damaging	1.00
R1615:Lmcd1	UTSW	6	112273950	missense	probably benign	0.40
R1748:Lmcd1	UTSW	6	112329914	missense	probably benign	0.01
R1793:Lmcd1	UTSW	6	112328751	missense	probably benign	0.00
R2014:Lmcd1	UTSW	6	112328741	missense	probably damaging	1.00
R2042:Lmcd1	UTSW	6	112315890	missense	probably benign	0.00
R4322:Lmcd1	UTSW	6	112315763	missense	possibly damaging	0.54
R4344:Lmcd1	UTSW	6	112288007	intron	probably benign
R4771:Lmcd1	UTSW	6	112315873	missense	probably damaging	1.00
R4863:Lmcd1	UTSW	6	112287871	intron	probably benign
R5256:Lmcd1	UTSW	6	112288126	intron	probably benign
R5296:Lmcd1	UTSW	6	112315588	missense	probably damaging	1.00
R6453:Lmcd1	UTSW	6	112315828	missense	probably benign
R6972:Lmcd1	UTSW	6	112310698	missense	probably damaging	1.00
R7239:Lmcd1	UTSW	6	112315784	missense	possibly damaging	0.94
R7278:Lmcd1	UTSW	6	112310539	missense	possibly damaging	0.73
Z1177:Lmcd1	UTSW	6	112310674	missense	possibly damaging	0.68
Z1177:Lmcd1	UTSW	6	112310676	missense	probably benign	0.03

Posted On

2015-04-16