Mutagenetix > Incidental Mutation

Incidental Mutation 'R8820:Lmcd1'

672981

Institutional Source

Beutler Lab

Gene Symbol

Lmcd1

Ensembl Gene

ENSMUSG00000057604

Gene Name

LIM and cysteine-rich domains 1

Synonyms

dyxin

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8820 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112273758-112330425 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112329809 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 314 (I314N)

Ref Sequence

ENSEMBL: ENSMUSP00000032376 (fasta)

Gene Model

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

AlphaFold

Q8VEE1

Predicted Effect

probably damaging
Transcript: ENSMUST00000032376
AA Change: I314N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032376
Gene: ENSMUSG00000057604
AA Change: I314N

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (58/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,726,454	F873L	possibly damaging	Het
4930504O13Rik	T	G	11: 58,446,303	S115R	probably damaging	Het
Abca17	A	G	17: 24,328,602	L266P	probably damaging	Het
Abcb1a	A	T	5: 8,723,204	T811S	possibly damaging	Het
Als2cl	T	C	9: 110,885,787	F125L	probably benign	Het
Arhgap33	T	C	7: 30,528,740	I406V	probably benign	Het
Cdyl	T	C	13: 35,858,191	I404T	probably damaging	Het
Clasrp	C	T	7: 19,586,437	R432H	unknown	Het
Clk2	T	A	3: 89,175,423	M392K	probably damaging	Het
Cps1	T	A	1: 67,228,280	N1402K	possibly damaging	Het
Cyp2u1	T	C	3: 131,298,367	H168R	probably damaging	Het
Dapl1	T	C	2: 59,504,712	L70P	probably damaging	Het
Ddr2	T	A	1: 169,977,914	K836*	probably null	Het
Dsel	A	G	1: 111,860,264	L847P	probably benign	Het
Fbxw17	A	T	13: 50,433,315	K437M	possibly damaging	Het
Fktn	T	C	4: 53,735,001	V174A	possibly damaging	Het
Frem1	C	A	4: 82,903,517	S2118I	probably damaging	Het
Fzd8	G	A	18: 9,213,247	V110M	unknown	Het
Gabrb3	T	C	7: 57,792,581	S212P	probably damaging	Het
Gimap9	A	G	6: 48,677,887	D136G	probably benign	Het
Gldc	C	G	19: 30,100,812	M928I	probably benign	Het
Hmmr	G	A	11: 40,721,672	S206F	probably damaging	Het
Ift46	C	T	9: 44,790,522	T283I	probably damaging	Het
Il1f8	C	T	2: 24,159,880	Q168*	probably null	Het
Ldb2	G	A	5: 44,799,415	Q27*	probably null	Het
Mctp2	C	A	7: 72,229,333	V259L	probably benign	Het
Midn	T	G	10: 80,154,400	S302A	probably damaging	Het
Ncor2	A	G	5: 125,029,227	V797A		Het
Npm2	A	G	14: 70,648,328	S146P	probably damaging	Het
Npr1	G	A	3: 90,464,894	R204C	probably damaging	Het
Olfr338	T	C	2: 36,376,994	S73P	probably damaging	Het
Olfr353	C	A	2: 36,890,610	M79I	probably benign	Het
Olfr49	C	T	14: 54,282,613	G94D	probably benign	Het
Olfr665	T	A	7: 104,881,655	V316D	possibly damaging	Het
Orc2	T	C	1: 58,476,480	N290D	probably benign	Het
Paip2b	A	C	6: 83,814,756	M48R	probably damaging	Het
Pcdhb15	T	A	18: 37,473,918	S68T	probably benign	Het
Pcnx	T	A	12: 81,973,248	H715Q		Het
Pcsk2	T	A	2: 143,801,070	H422Q	probably damaging	Het
Pdzph1	G	C	17: 58,880,720	Y1168*	probably null	Het
Peli2	G	A	14: 48,252,673	E201K	possibly damaging	Het
Prelp	T	C	1: 133,915,140	N89S	probably damaging	Het
Proz	T	A	8: 13,063,253	F25I	probably damaging	Het
Rapgef3	T	C	15: 97,748,657	N799S	probably benign	Het
Ryr3	G	A	2: 112,635,792	R4795W	probably damaging	Het
Ryr3	A	G	2: 112,859,724	V1180A	probably benign	Het
Scn11a	T	C	9: 119,816,520	I123V	probably benign	Het
Sema4b	G	C	7: 80,220,500	E475D	probably damaging	Het
Serinc2	C	A	4: 130,255,379	M343I	probably damaging	Het
Serinc5	G	T	13: 92,708,036	V429F	probably benign	Het
Smyd2	T	A	1: 189,899,821	K115N	probably benign	Het
Tenm3	T	G	8: 48,310,724	D765A	probably damaging	Het
Tmem2	G	A	19: 21,807,454	V434M	probably damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 116,068,172		probably benign	Het
Ythdc2	C	T	18: 44,834,464	R176*	probably null	Het
Zfp27	T	C	7: 29,894,588	K651E	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
IGL01373: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
R8819:Lmcd1	UTSW	6	112329809	missense	probably damaging	1.00
R9541:Lmcd1	UTSW	6	112329863	missense	probably damaging	1.00
R9608:Lmcd1	UTSW	6	112329824	missense	possibly damaging	0.78
Z1177:Lmcd1	UTSW	6	112310674	missense	possibly damaging	0.68
Z1177:Lmcd1	UTSW	6	112310676	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TCCTGTCAGGAAAGCTAAGAC -3'
(R):5'- TAGGATGGCTTCAGTCTCCTGG -3'

Sequencing Primer
(F):5'- TCCTGTCAGGAAAGCTAAGACACAAG -3'
(R):5'- ATCCGATAGACTCTGCTGGCTG -3'

Posted On

2021-04-30