Mutagenetix > Incidental Mutation

Incidental Mutation 'R9541:Lmcd1'

719870

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 #

R9541 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112250747-112307384 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112306824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 332 (H332L)

Ref Sequence

ENSEMBL: ENSMUSP00000032376 (fasta)

Gene Model

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

AlphaFold

Q8VEE1

Predicted Effect

probably damaging
Transcript: ENSMUST00000032376
AA Change: H332L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032376
Gene: ENSMUSG00000057604
AA Change: H332L

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: 99.1%
20x: 96.5%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,801,079 (GRCm39)	I450V	probably benign	Het
Adam21	T	C	12: 81,607,724 (GRCm39)	T13A	probably benign	Het
Adamts4	C	A	1: 171,084,695 (GRCm39)	P644H	probably damaging	Het
Ak9	C	T	10: 41,243,173 (GRCm39)	A689V		Het
Ankhd1	G	A	18: 36,757,697 (GRCm39)	S209N		Het
Anks1b	A	T	10: 90,412,947 (GRCm39)	T32S	probably benign	Het
Atp13a4	G	T	16: 29,241,544 (GRCm39)	T708K		Het
B4gat1	C	T	19: 5,089,896 (GRCm39)	P298S	probably damaging	Het
Btbd9	A	G	17: 30,439,438 (GRCm39)	L583P	possibly damaging	Het
Ciart	C	A	3: 95,788,527 (GRCm39)	C104F	possibly damaging	Het
Coq5	T	C	5: 115,417,901 (GRCm39)	S44P	probably benign	Het
Dennd5b	A	G	6: 148,899,872 (GRCm39)	V1175A	probably benign	Het
Filip1	T	A	9: 79,727,135 (GRCm39)	K495*	probably null	Het
Fscn2	G	A	11: 120,258,771 (GRCm39)	V439M	probably damaging	Het
Gcn1	A	G	5: 115,754,416 (GRCm39)	I2339V	probably benign	Het
Gmppa	T	A	1: 75,417,094 (GRCm39)	S176R	probably damaging	Het
Gpatch3	G	A	4: 133,305,595 (GRCm39)	E277K	probably benign	Het
Hcn4	A	G	9: 58,767,685 (GRCm39)	D1082G	probably damaging	Het
Hdgfl2	T	A	17: 56,405,976 (GRCm39)	D487E	unknown	Het
Ifna14	A	T	4: 88,490,010 (GRCm39)	M9K	probably null	Het
Igkv4-81	A	G	6: 68,967,925 (GRCm39)	Y59H		Het
Il2rb	T	A	15: 78,372,393 (GRCm39)	N108I	probably benign	Het
Jarid2	C	T	13: 45,068,253 (GRCm39)	R1092W	possibly damaging	Het
Kdm5d	T	G	Y: 910,801 (GRCm39)	C304W	probably damaging	Het
Khnyn	T	C	14: 56,124,109 (GRCm39)	I121T	possibly damaging	Het
Lrp1b	T	C	2: 41,234,600 (GRCm39)	D1117G		Het
Med25	A	G	7: 44,541,267 (GRCm39)	V82A	possibly damaging	Het
Mindy2	G	A	9: 70,512,508 (GRCm39)	R581C	possibly damaging	Het
Mindy3	T	C	2: 12,391,449 (GRCm39)	T257A	probably damaging	Het
Myo1e	A	T	9: 70,204,628 (GRCm39)	Y76F	probably damaging	Het
Npas2	A	T	1: 39,377,194 (GRCm39)	I519F	possibly damaging	Het
Or2h2c	C	T	17: 37,422,824 (GRCm39)	D17N	probably benign	Het
Or4f52	T	A	2: 111,061,275 (GRCm39)	T288S	probably damaging	Het
Or5ak25	T	A	2: 85,269,025 (GRCm39)	H159L	possibly damaging	Het
Otx1	A	G	11: 21,947,052 (GRCm39)	F86L	probably damaging	Het
Pcm1	A	G	8: 41,780,616 (GRCm39)	D1856G	probably benign	Het
Pcsk7	G	A	9: 45,820,768 (GRCm39)	E67K	probably benign	Het
Pkd2	A	G	5: 104,607,927 (GRCm39)	Y142C	probably damaging	Het
Ptpre	A	G	7: 135,266,740 (GRCm39)	D236G	probably benign	Het
Rasd2	T	C	8: 75,945,200 (GRCm39)	C10R	probably benign	Het
Rd3	C	A	1: 191,717,294 (GRCm39)	R140S	possibly damaging	Het
Rusc1	T	G	3: 88,998,922 (GRCm39)	T287P	possibly damaging	Het
Slc22a7	T	C	17: 46,749,084 (GRCm39)	S78G	probably damaging	Het
Sltm	A	T	9: 70,481,057 (GRCm39)	H303L	unknown	Het
Syne4	G	A	7: 30,016,343 (GRCm39)	V228I	probably benign	Het
Timm22	T	A	11: 76,300,641 (GRCm39)	C138S	possibly damaging	Het
Trib2	T	A	12: 15,866,827 (GRCm39)	I15L	unknown	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Tyro3	T	C	2: 119,642,589 (GRCm39)	V591A	possibly damaging	Het
Vmn2r69	A	G	7: 85,056,209 (GRCm39)	V643A	probably benign	Het
Zfp281	G	T	1: 136,555,303 (GRCm39)	Q760H	probably damaging	Het

Other mutations in Lmcd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Lmcd1	APN	6	112,306,769 (GRCm39)	missense	probably benign	0.29
IGL00963:Lmcd1	APN	6	112,306,895 (GRCm39)	missense	probably damaging	1.00
IGL01339:Lmcd1	APN	6	112,287,586 (GRCm39)	missense	probably benign
IGL01373:Lmcd1	APN	6	112,287,586 (GRCm39)	missense	probably benign
IGL03088:Lmcd1	APN	6	112,287,649 (GRCm39)	missense	probably damaging	1.00
IGL03090:Lmcd1	APN	6	112,287,460 (GRCm39)	missense	probably benign	0.32
R0940:Lmcd1	UTSW	6	112,305,658 (GRCm39)	missense	probably benign	0.01
R1144:Lmcd1	UTSW	6	112,287,712 (GRCm39)	splice site	probably benign
R1245:Lmcd1	UTSW	6	112,292,673 (GRCm39)	missense	probably benign	0.01
R1338:Lmcd1	UTSW	6	112,282,089 (GRCm39)	missense	probably damaging	1.00
R1567:Lmcd1	UTSW	6	112,287,526 (GRCm39)	missense	probably damaging	1.00
R1615:Lmcd1	UTSW	6	112,250,911 (GRCm39)	missense	probably benign	0.40
R1748:Lmcd1	UTSW	6	112,306,875 (GRCm39)	missense	probably benign	0.01
R1793:Lmcd1	UTSW	6	112,305,712 (GRCm39)	missense	probably benign	0.00
R2014:Lmcd1	UTSW	6	112,305,702 (GRCm39)	missense	probably damaging	1.00
R2042:Lmcd1	UTSW	6	112,292,851 (GRCm39)	missense	probably benign	0.00
R4322:Lmcd1	UTSW	6	112,292,724 (GRCm39)	missense	possibly damaging	0.54
R4344:Lmcd1	UTSW	6	112,264,968 (GRCm39)	intron	probably benign
R4771:Lmcd1	UTSW	6	112,292,834 (GRCm39)	missense	probably damaging	1.00
R4863:Lmcd1	UTSW	6	112,264,832 (GRCm39)	intron	probably benign
R5256:Lmcd1	UTSW	6	112,265,087 (GRCm39)	intron	probably benign
R5296:Lmcd1	UTSW	6	112,292,549 (GRCm39)	missense	probably damaging	1.00
R6453:Lmcd1	UTSW	6	112,292,789 (GRCm39)	missense	probably benign
R6972:Lmcd1	UTSW	6	112,287,659 (GRCm39)	missense	probably damaging	1.00
R7239:Lmcd1	UTSW	6	112,292,745 (GRCm39)	missense	possibly damaging	0.94
R7278:Lmcd1	UTSW	6	112,287,500 (GRCm39)	missense	possibly damaging	0.73
R8819:Lmcd1	UTSW	6	112,306,770 (GRCm39)	missense	probably damaging	1.00
R8820:Lmcd1	UTSW	6	112,306,770 (GRCm39)	missense	probably damaging	1.00
R9608:Lmcd1	UTSW	6	112,306,785 (GRCm39)	missense	possibly damaging	0.78
Z1177:Lmcd1	UTSW	6	112,287,637 (GRCm39)	missense	probably benign	0.03
Z1177:Lmcd1	UTSW	6	112,287,635 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- CCTCCGACTTCTTCATGGAG -3'
(R):5'- TGCTCAACCTAGAATATGCACTGC -3'

Sequencing Primer
(F):5'- CATGGAGGTCTTTAAAGGTCACAAC -3'
(R):5'- ACTGCTTGCTGGCCGTG -3'

Posted On

2022-07-18