Incidental Mutation 'IGL03090:Lmcd1'
ID 418338
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lmcd1
Ensembl Gene ENSMUSG00000057604
Gene Name LIM and cysteine-rich domains 1
Synonyms dyxin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03090
Quality Score
Status
Chromosome 6
Chromosomal Location 112250747-112307384 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 112287460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 49 (S49T)
Ref Sequence ENSEMBL: ENSMUSP00000032376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032376]
AlphaFold Q8VEE1
Predicted Effect probably benign
Transcript: ENSMUST00000032376
AA Change: S49T

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000032376
Gene: ENSMUSG00000057604
AA Change: S49T

DomainStartEndE-ValueType
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
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 A G 8: 41,247,965 (GRCm39) Y25C probably benign Het
Agap3 A C 5: 24,706,204 (GRCm39) T823P possibly damaging Het
Arap3 T C 18: 38,122,165 (GRCm39) E641G probably benign Het
Armc6 C T 8: 70,684,004 (GRCm39) R16Q probably benign Het
Asb15 T A 6: 24,567,185 (GRCm39) I502K possibly damaging Het
Atp8b3 T A 10: 80,366,438 (GRCm39) N275I probably damaging Het
Calr G A 8: 85,573,373 (GRCm39) P19S possibly damaging Het
Cdc6 T A 11: 98,810,122 (GRCm39) L477* probably null Het
Clba1 T C 12: 112,779,340 (GRCm39) probably null Het
Cnnm4 A G 1: 36,510,952 (GRCm39) D60G probably benign Het
Col12a1 G T 9: 79,585,652 (GRCm39) Q1242K probably damaging Het
Dusp18 T A 11: 3,847,466 (GRCm39) I152N probably damaging Het
Eef1akmt1 T C 14: 57,795,543 (GRCm39) T69A probably damaging Het
Efhb T C 17: 53,769,958 (GRCm39) Q117R probably benign Het
Fancd2 T A 6: 113,514,558 (GRCm39) probably null Het
Fat3 C T 9: 16,288,535 (GRCm39) W329* probably null Het
Frem3 A G 8: 81,344,858 (GRCm39) Y1727C probably benign Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gatb C A 3: 85,526,330 (GRCm39) probably benign Het
Gpr33 A T 12: 52,070,809 (GRCm39) S77T probably damaging Het
Gramd1c A T 16: 43,802,463 (GRCm39) D649E probably benign Het
Herc2 T A 7: 55,854,221 (GRCm39) L3745H probably damaging Het
Klk1b11 T A 7: 43,426,977 (GRCm39) M87K probably benign Het
Krt39 T G 11: 99,409,833 (GRCm39) probably benign Het
Lamc3 T A 2: 31,798,710 (GRCm39) probably benign Het
Lars2 T G 9: 123,285,025 (GRCm39) M786R probably damaging Het
Lrba T C 3: 86,680,448 (GRCm39) Y2689H probably benign Het
Map3k6 T C 4: 132,970,677 (GRCm39) V188A probably benign Het
Mbd6 A C 10: 127,123,013 (GRCm39) L49W probably damaging Het
Myo5a A T 9: 75,028,115 (GRCm39) Y100F probably damaging Het
Myo9a T A 9: 59,801,418 (GRCm39) probably benign Het
Ncoa7 T C 10: 30,538,396 (GRCm39) D663G probably damaging Het
Nup214 A T 2: 31,908,254 (GRCm39) M1075L probably benign Het
Pkd1l3 C A 8: 110,382,165 (GRCm39) Y240* probably null Het
Pomk T A 8: 26,473,338 (GRCm39) N205I probably damaging Het
Sdr16c5 A G 4: 4,006,575 (GRCm39) probably benign Het
Setd1a A G 7: 127,385,672 (GRCm39) E250G possibly damaging Het
Slc26a6 A G 9: 108,737,890 (GRCm39) E541G probably benign Het
Slc4a3 A G 1: 75,531,661 (GRCm39) E876G probably benign Het
Srrm4 A G 5: 116,587,643 (GRCm39) probably benign Het
Stx12 A G 4: 132,590,540 (GRCm39) V119A probably benign Het
Tmem8b T A 4: 43,689,721 (GRCm39) S333T probably damaging Het
Usp31 T C 7: 121,278,753 (GRCm39) probably benign Het
Utp18 T C 11: 93,759,245 (GRCm39) R410G probably damaging Het
Vmn1r172 T C 7: 23,359,463 (GRCm39) I116T probably damaging Het
Vwa8 T A 14: 79,172,041 (GRCm39) L274Q possibly damaging Het
Wdfy3 A T 5: 102,014,142 (GRCm39) F2655I probably damaging Het
Zfp423 A T 8: 88,508,071 (GRCm39) Y737N probably damaging Het
Zyx C A 6: 42,334,276 (GRCm39) S500* probably null Het
Other mutations in Lmcd1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2016-08-02