Mutagenetix > Incidental Mutation

Incidental Mutation 'R7239:Lmcd1'

563069

Institutional Source

Beutler Lab

Gene Symbol

Lmcd1

Ensembl Gene

ENSMUSG00000057604

Gene Name

LIM and cysteine-rich domains 1

Synonyms

dyxin

MMRRC Submission

045346-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7239 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112250747-112307384 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112292745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 199 (V199A)

Ref Sequence

ENSEMBL: ENSMUSP00000032376 (fasta)

Gene Model

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

AlphaFold

Q8VEE1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032376
AA Change: V199A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032376
Gene: ENSMUSG00000057604
AA Change: V199A

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: 98.7%

Validation Efficiency

99% (76/77)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	A	G	16: 21,472,268 (GRCm39)	V144A	probably damaging	Het
Abca5	A	T	11: 110,217,530 (GRCm39)	Y109N	possibly damaging	Het
Abcb5	T	C	12: 118,892,460 (GRCm39)	Q433R	probably benign	Het
Adamts7	G	A	9: 90,068,610 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,624,731 (GRCm39)	D3746G	possibly damaging	Het
Arhgap29	C	T	3: 121,782,599 (GRCm39)	S159L	probably benign	Het
Arhgap5	T	A	12: 52,564,159 (GRCm39)	C377S	probably benign	Het
Atp1a3	G	A	7: 24,700,129 (GRCm39)	P77L	probably damaging	Het
B4galt1	T	C	4: 40,812,754 (GRCm39)	D257G	probably damaging	Het
Bin1	T	A	18: 32,539,224 (GRCm39)	N52K	probably damaging	Het
Catsperg2	A	G	7: 29,409,507 (GRCm39)	M562T	probably benign	Het
Ccdc33	G	A	9: 57,940,192 (GRCm39)	Q713*	probably null	Het
Cd96	A	T	16: 45,929,477 (GRCm39)	L156Q	probably damaging	Het
Clpb	A	G	7: 101,360,662 (GRCm39)	T231A	probably damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dnmt3a	A	T	12: 3,922,850 (GRCm39)	Q151L	probably benign	Het
Dock2	C	T	11: 34,181,677 (GRCm39)	V1629M	probably benign	Het
Edem1	G	A	6: 108,831,341 (GRCm39)	D601N	probably benign	Het
Eno2	C	T	6: 124,745,228 (GRCm39)	V20M	probably damaging	Het
Eny2	A	C	15: 44,297,250 (GRCm39)	D52A	probably benign	Het
Esp36	T	C	17: 38,728,132 (GRCm39)	R93G	possibly damaging	Het
Fam227a	A	G	15: 79,518,263 (GRCm39)		probably null	Het
Fat4	C	A	3: 39,037,989 (GRCm39)	H3880Q	possibly damaging	Het
Fbxw24	A	T	9: 109,434,598 (GRCm39)	V334E	possibly damaging	Het
Flrt1	T	C	19: 7,073,329 (GRCm39)	Q406R	probably benign	Het
Frmpd2	A	G	14: 33,274,034 (GRCm39)	N1092S	probably benign	Het
Gm904	C	A	13: 50,799,287 (GRCm39)	T82K	probably benign	Het
Gnas	G	C	2: 174,140,408 (GRCm39)	G252R	unknown	Het
Gpatch2l	A	G	12: 86,307,349 (GRCm39)		probably null	Het
H2ac6	A	T	13: 23,867,593 (GRCm39)	I103N	probably damaging	Het
Ift74	T	C	4: 94,541,187 (GRCm39)	V204A	probably benign	Het
Ikzf4	A	G	10: 128,477,113 (GRCm39)	L119P	probably damaging	Het
Ing3	G	A	6: 21,952,193 (GRCm39)	E56K	probably damaging	Het
Klhl25	T	C	7: 75,516,516 (GRCm39)	I474T	probably benign	Het
Klhl5	T	C	5: 65,318,529 (GRCm39)	V556A	probably damaging	Het
Krt14	A	T	11: 100,095,081 (GRCm39)	M382K	probably benign	Het
Lpcat4	T	A	2: 112,073,052 (GRCm39)	F200I	possibly damaging	Het
Lrp1b	T	C	2: 40,894,725 (GRCm39)	T2282A		Het
Lrrk1	T	C	7: 65,911,903 (GRCm39)	T1886A	probably benign	Het
Meis2	T	C	2: 115,889,484 (GRCm39)		probably null	Het
Mki67	C	T	7: 135,301,905 (GRCm39)	R1043K	possibly damaging	Het
Myct1	G	T	10: 5,554,601 (GRCm39)	R156L	possibly damaging	Het
Nckap5l	G	T	15: 99,324,090 (GRCm39)	H804Q	probably damaging	Het
Ndst3	T	G	3: 123,400,555 (GRCm39)	E450D	probably damaging	Het
Nipbl	A	T	15: 8,321,619 (GRCm39)		probably null	Het
Npy	A	G	6: 49,800,587 (GRCm39)	N4D	probably benign	Het
Or7g35	A	T	9: 19,496,487 (GRCm39)	Y218F	probably damaging	Het
Osgin2	T	C	4: 16,008,748 (GRCm39)	S18G	probably benign	Het
Pcdha9	T	G	18: 37,131,551 (GRCm39)	F207V	probably benign	Het
Pcdhb13	A	T	18: 37,577,697 (GRCm39)	I692F	probably damaging	Het
Pde3b	T	A	7: 114,015,384 (GRCm39)	V200E	probably damaging	Het
Ppp6r3	A	T	19: 3,543,981 (GRCm39)	L345I	probably benign	Het
Psd2	G	A	18: 36,113,472 (GRCm39)	A315T	probably damaging	Het
Rnf111	G	A	9: 70,376,655 (GRCm39)	T328I	probably damaging	Het
Rnf213	T	C	11: 119,349,614 (GRCm39)	L3825P		Het
Rtl1	C	T	12: 109,558,909 (GRCm39)	V977I	probably benign	Het
Scn1a	G	A	2: 66,108,000 (GRCm39)		probably null	Het
Slc25a2	G	T	18: 37,770,748 (GRCm39)	N260K	probably benign	Het
Sprtn	T	C	8: 125,626,983 (GRCm39)	V121A	probably damaging	Het
Ssx2ip	T	G	3: 146,133,771 (GRCm39)	L260W	probably damaging	Het
Syde1	G	A	10: 78,424,615 (GRCm39)	R406C	probably damaging	Het
Tab1	A	G	15: 80,017,372 (GRCm39)	R6G	probably benign	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tenm4	G	A	7: 96,385,020 (GRCm39)	V526I	possibly damaging	Het
Tfap2b	T	C	1: 19,304,404 (GRCm39)	F405L	probably damaging	Het
Trbv13-1	C	A	6: 41,093,325 (GRCm39)	T87K	probably benign	Het
Trmt44	G	T	5: 35,732,130 (GRCm39)	A87E	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,617,634 (GRCm39)	D16279G	probably damaging	Het
Ttn	G	A	2: 76,711,672 (GRCm39)	R8290C	unknown	Het
Ugt2b37	T	A	5: 87,402,590 (GRCm39)	I14L	probably benign	Het
Vmn1r13	A	T	6: 57,187,611 (GRCm39)	M257L	probably benign	Het
Vmn1r184	C	T	7: 25,966,602 (GRCm39)	P116L	possibly damaging	Het
Zfp426	T	C	9: 20,381,887 (GRCm39)	T367A	probably benign	Het
Zfp647	A	T	15: 76,795,956 (GRCm39)	C235S	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
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
R9541:Lmcd1	UTSW	6	112,306,824 (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'- GCCTGCAGTACATGGAACTCATC -3'
(R):5'- TATGGTAAGGTGGGACCCTGAC -3'

Sequencing Primer
(F):5'- TCCCCAAGGAGAGGCAG -3'
(R):5'- TGACAGCATAGCCCTAGCCTG -3'

Posted On

2019-06-26