Mutagenetix > Incidental Mutation

Incidental Mutation 'R9608:Lmcd1'

724009

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 #

R9608 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112273758-112330425 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112329824 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 319 (D319G)

Ref Sequence

ENSEMBL: ENSMUSP00000032376 (fasta)

Gene Model

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

AlphaFold

Q8VEE1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032376
AA Change: D319G

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032376
Gene: ENSMUSG00000057604
AA Change: D319G

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	A	19: 55,284,452	I333N	probably damaging	Het
Adam2	T	C	14: 66,053,830	N333S	probably null	Het
Adgrb2	A	G	4: 130,013,559	T955A	probably damaging	Het
Agxt2	T	C	15: 10,400,538	F476S	possibly damaging	Het
Asb14	T	A	14: 26,912,191	F451Y	probably damaging	Het
Atg9a	A	T	1: 75,185,095	N602K	possibly damaging	Het
Atp2a3	T	C	11: 72,989,040	I978T	probably benign	Het
BC034090	A	G	1: 155,223,389	V550A	possibly damaging	Het
Bud23	T	A	5: 135,057,672		probably null	Het
C1qtnf3	A	T	15: 10,952,482	H10L	probably benign	Het
Cage1	G	C	13: 38,011,395	I783M	possibly damaging	Het
Ccdc142	C	T	6: 83,107,101	Q496*	probably null	Het
Cd163	A	C	6: 124,309,204	K238Q	possibly damaging	Het
Cdh6	A	T	15: 13,064,535	Y90N	probably damaging	Het
Cpeb1	A	G	7: 81,372,010		probably null	Het
Cpt2	G	T	4: 107,908,144	P141Q	probably damaging	Het
Cspg4	T	A	9: 56,885,552	H190Q	probably benign	Het
Dcst1	T	C	3: 89,359,135	M139V	possibly damaging	Het
Dennd5a	G	C	7: 109,921,506	N381K	probably damaging	Het
Dera	A	G	6: 137,836,878	R299G	possibly damaging	Het
Dnah2	C	T	11: 69,454,062	G2729R	probably null	Het
Dnajc11	A	G	4: 151,950,521	E67G	possibly damaging	Het
Eif2ak3	T	A	6: 70,864,527	C152*	probably null	Het
Eln	T	G	5: 134,726,477	K241Q	unknown	Het
Exoc6b	C	T	6: 84,625,124		probably null	Het
Eya1	A	T	1: 14,302,805	I30K	probably benign	Het
Fbxo39	A	G	11: 72,317,275	K151R	probably benign	Het
Fer	A	G	17: 63,907,332	T87A	probably benign	Het
Fgf4	A	T	7: 144,861,598	N32Y	possibly damaging	Het
Fkbp6	G	A	5: 135,346,173	P129S	probably damaging	Het
Fndc7	C	A	3: 108,867,281	V554F	probably damaging	Het
Frk	G	A	10: 34,605,877		probably null	Het
Ghrhr	T	A	6: 55,380,801	I139N	possibly damaging	Het
Gm14025	C	T	2: 129,036,630	W1125*	probably null	Het
Gm17175	A	T	14: 51,571,642	M89K	probably damaging	Het
Gm4787	A	T	12: 81,378,312	N357K	probably benign	Het
Gpihbp1	G	A	15: 75,597,763	C109Y	probably damaging	Het
Gps1	T	C	11: 120,786,815	V257A	probably benign	Het
H2-M3	T	C	17: 37,270,268	S3P	probably benign	Het
Hmcn1	G	A	1: 150,599,552	P4674L	probably damaging	Het
Hoxa11	T	C	6: 52,245,244	D159G	probably benign	Het
Kcnn4	G	A	7: 24,384,078	D395N	probably damaging	Het
Krt222	T	C	11: 99,236,155	E213G	probably damaging	Het
Ltv1	A	G	10: 13,190,696	F62S	probably damaging	Het
Man2a1	G	T	17: 64,734,958	R957L	probably damaging	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Mrpl45	T	G	11: 97,326,861	V197G	probably damaging	Het
Ndn	C	T	7: 62,348,589	P61L	possibly damaging	Het
Nek4	T	C	14: 30,953,947	Y73H	probably damaging	Het
Nom1	T	A	5: 29,437,752	V417D	probably damaging	Het
Olfr1491	A	T	19: 13,705,504	I226F	probably damaging	Het
Olfr493	A	G	7: 108,346,306	L225P	probably damaging	Het
Olfr729	A	G	14: 50,148,598	I92T	probably benign	Het
Pacs1	A	G	19: 5,143,834	S556P	probably damaging	Het
Pcdh1	C	T	18: 38,197,851	V839M	possibly damaging	Het
Pcdhb18	T	A	18: 37,490,641	N341K	probably damaging	Het
Pde6d	G	A	1: 86,545,702	T124M	possibly damaging	Het
Piezo2	T	A	18: 63,146,945	E185V	probably benign	Het
Pkhd1l1	T	C	15: 44,578,633	V3656A	possibly damaging	Het
Plcg1	A	G	2: 160,755,751	Y771C	probably benign	Het
Ppdpf	T	C	2: 181,187,875	L41P	probably benign	Het
Prepl	T	C	17: 85,068,893	T578A	probably benign	Het
Prkdc	C	A	16: 15,730,470	L1981M	possibly damaging	Het
Prkdc	T	A	16: 15,730,471	L1981Q	probably damaging	Het
Rb1cc1	C	T	1: 6,248,304	S649L	probably benign	Het
Rbbp6	A	G	7: 122,992,045	T457A	possibly damaging	Het
Sbf1	T	A	15: 89,307,605		probably null	Het
Scn1a	T	C	2: 66,322,343	I776V	probably benign	Het
Sec23a	G	A	12: 58,973,018	P588S	probably benign	Het
Slfn5	A	G	11: 82,961,004	D652G	possibly damaging	Het
Slfn5	C	A	11: 82,961,495	P816T	probably benign	Het
Smarcad1	C	T	6: 65,114,334	T1013I	probably damaging	Het
Spidr	G	A	16: 16,037,610	T347I	probably benign	Het
Stx1b	A	T	7: 127,807,379	M266K	probably damaging	Het
Tarm1	A	G	7: 3,502,546		probably benign	Het
Tfap2c	A	T	2: 172,549,844	K4*	probably null	Het
Trpm5	A	T	7: 143,079,411	V819E	possibly damaging	Het
Trrap	A	G	5: 144,843,318	T3240A	possibly damaging	Het
Uqcc2	A	T	17: 27,122,735	V130D	probably benign	Het
Uspl1	T	A	5: 149,215,060	D1023E	probably benign	Het
Vmn2r28	A	T	7: 5,488,221	H342Q	probably benign	Het
Vmn2r33	A	T	7: 7,554,154	C516S	possibly damaging	Het
Vps45	G	A	3: 96,033,670	R420W	probably damaging	Het
Zfp42	C	T	8: 43,296,135	V110I	possibly damaging	Het
Zfp467	T	A	6: 48,427,842	K100N	unknown	Het
Zfyve16	A	T	13: 92,500,280	S1307R	probably damaging	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
R8820:Lmcd1	UTSW	6	112329809	missense	probably damaging	1.00
R9541:Lmcd1	UTSW	6	112329863	missense	probably damaging	1.00
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'- TCCTGTCAGGAAAGCTAAGACAC -3'
(R):5'- TAGGATGGCTTCAGTCTCCTG -3'

Sequencing Primer
(F):5'- TCAGGAAAGCTAAGACACAAGCATG -3'
(R):5'- TGGGATCCGATAGACTCTGC -3'

Posted On

2022-09-12