Mutagenetix > Incidental Mutation

Incidental Mutation 'R5296:Lmcd1'

405409

Institutional Source

Beutler Lab

Gene Symbol

Lmcd1

Ensembl Gene

ENSMUSG00000057604

Gene Name

LIM and cysteine-rich domains 1

Synonyms

dyxin

MMRRC Submission

042879-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5296 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112273758-112330425 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112315588 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 134 (M134V)

Ref Sequence

ENSEMBL: ENSMUSP00000032376 (fasta)

Gene Model

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

AlphaFold

Q8VEE1

Predicted Effect

probably damaging
Transcript: ENSMUST00000032376
AA Change: M134V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032376
Gene: ENSMUSG00000057604
AA Change: M134V

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

0.5558

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.9%
20x: 96.6%

Validation Efficiency

100% (65/65)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apobr	A	C	7: 126,588,024	D89A	probably damaging	Het
Bhlhe41	C	T	6: 145,862,968		probably benign	Het
Cacna1s	G	A	1: 136,095,785	V674M	probably benign	Het
Cavin2	T	C	1: 51,289,870		probably null	Het
Cd300lb	T	C	11: 114,924,937	S106G	possibly damaging	Het
Ceacam15	A	G	7: 16,673,196	V132A	probably benign	Het
Ddi2	G	T	4: 141,684,765	Q279K	probably benign	Het
Dnah11	A	G	12: 117,883,416	V4304A	probably damaging	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Epsti1	T	A	14: 77,904,650	H55Q	probably benign	Het
Flad1	T	C	3: 89,411,196	T17A	probably damaging	Het
Fzd2	C	T	11: 102,606,155	T475M	probably damaging	Het
Gemin5	C	A	11: 58,130,061	W1099L	probably damaging	Het
Gm8979	A	T	7: 106,081,848		noncoding transcript	Het
Gm9892	T	C	8: 52,196,929		noncoding transcript	Het
Gmeb2	A	G	2: 181,255,986		probably benign	Het
Grip1	A	G	10: 119,929,928	E55G	probably damaging	Het
Hltf	T	C	3: 20,108,112	S825P	probably damaging	Het
Kcnh3	A	T	15: 99,241,939	Q902L	probably null	Het
Kcnt2	C	T	1: 140,609,615	P1037L	probably damaging	Het
Klhl18	G	C	9: 110,436,127	N335K	possibly damaging	Het
Lama5	A	C	2: 180,193,801	L1253R	probably damaging	Het
Lancl2	T	G	6: 57,724,582	S230A	probably benign	Het
Lrrc23	C	A	6: 124,774,482	A205S	probably damaging	Het
Mfsd13b	T	A	7: 120,991,738	I234N	probably damaging	Het
Mroh3	A	G	1: 136,196,323	S386P	probably damaging	Het
Mylk3	A	C	8: 85,355,431	F313V	possibly damaging	Het
Myo9b	A	T	8: 71,333,388	Q643L	possibly damaging	Het
Nacad	T	C	11: 6,605,745	S2G	unknown	Het
Olfr1269	A	T	2: 90,118,699	W300R	probably damaging	Het
Olfr136	C	T	17: 38,335,456	Q100*	probably null	Het
Olfr419	G	T	1: 174,250,756	T57K	possibly damaging	Het
Olfr908	T	C	9: 38,516,116	F28S	probably damaging	Het
Pkd1	T	C	17: 24,576,074	V2245A	probably damaging	Het
Pkdrej	G	A	15: 85,817,118	T1539I	possibly damaging	Het
Plch2	G	T	4: 154,989,999		probably null	Het
Pygm	G	A	19: 6,384,579	R34H	probably damaging	Het
Rgs12	T	C	5: 35,021,104		probably benign	Het
Ruvbl1	T	C	6: 88,485,908	I338T	probably damaging	Het
Sapcd1	T	A	17: 35,026,731	Q104L	probably damaging	Het
Satb2	T	C	1: 56,796,907	E575G	probably damaging	Het
Sema6b	T	A	17: 56,127,091		probably null	Het
Slc25a11	T	C	11: 70,646,185	N15D	probably damaging	Het
Slc26a6	C	T	9: 108,860,646	T526M	probably damaging	Het
Tcaf3	G	T	6: 42,587,510	T906K	possibly damaging	Het
Thbd	A	T	2: 148,406,983	C322S	probably damaging	Het
Traf2	A	G	2: 25,520,440	L399P	probably damaging	Het
Troap	T	A	15: 99,078,817	V274D	probably damaging	Het
Utrn	G	A	10: 12,401,355	T3406M	probably damaging	Het
Uts2	G	T	4: 150,999,051	A40S	possibly damaging	Het
Vmn2r109	T	A	17: 20,554,341	I251F	possibly damaging	Het
Vmn2r67	A	G	7: 85,137,022	S592P	probably damaging	Het
Vps13b	T	G	15: 35,876,413	W2797G	probably damaging	Het
Ythdf1	A	T	2: 180,912,188	M51K	probably damaging	Het
Zfp60	T	A	7: 27,738,530		probably benign	Het
Zfp882	T	A	8: 71,914,360	F344I	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
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
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'- GGTGGGCTAAATCCAGAACC -3'
(R):5'- GTAGTGCTTGACGAACTCCTC -3'

Sequencing Primer
(F):5'- GGGCTAAATCCAGAACCTTTACTGG -3'
(R):5'- GTAGTGCTTGACGAACTCCTCCATAG -3'

Posted On

2016-07-22