Incidental Mutation 'IGL02743:Lrsam1'
ID305993
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrsam1
Ensembl Gene ENSMUSG00000026792
Gene Nameleucine rich repeat and sterile alpha motif containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #IGL02743
Quality Score
Status
Chromosome2
Chromosomal Location32925216-32961614 bp(-) (GRCm38)
Type of Mutationsplice site (3 bp from exon)
DNA Base Change (assembly) T to C at 32928649 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028132] [ENSMUST00000028135] [ENSMUST00000113200]
Predicted Effect probably null
Transcript: ENSMUST00000028132
SMART Domains Protein: ENSMUSP00000028132
Gene: ENSMUSG00000026792

DomainStartEndE-ValueType
LRR 80 102 1.26e1 SMART
LRR 103 125 9.3e-1 SMART
LRR 126 148 1.91e1 SMART
LRR 149 171 7.05e-1 SMART
Blast:IlGF 191 321 1e-71 BLAST
low complexity region 322 333 N/A INTRINSIC
low complexity region 474 493 N/A INTRINSIC
coiled coil region 500 547 N/A INTRINSIC
SAM 566 632 2.42e-2 SMART
RING 679 713 3.51e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000028135
SMART Domains Protein: ENSMUSP00000028135
Gene: ENSMUSG00000026796

DomainStartEndE-ValueType
PH 69 194 1.81e-2 SMART
low complexity region 594 607 N/A INTRINSIC
low complexity region 685 700 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000113200
SMART Domains Protein: ENSMUSP00000108825
Gene: ENSMUSG00000026792

DomainStartEndE-ValueType
LRR 80 102 1.26e1 SMART
LRR 103 125 9.3e-1 SMART
LRR 126 148 1.91e1 SMART
LRR 149 171 7.05e-1 SMART
Blast:IlGF 191 321 1e-71 BLAST
low complexity region 322 333 N/A INTRINSIC
low complexity region 474 493 N/A INTRINSIC
coiled coil region 500 547 N/A INTRINSIC
SAM 566 632 2.42e-2 SMART
RING 679 713 3.51e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195713
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 ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mutant mice either heterozygous or homozygous for a gene trapped allele exhibit mild neuromuscular junction and axonal defects in the absence of a neuronal challenge, but show increased sensitivity to acrylamide-induced motor axon degeneration relative to control mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn A C 5: 88,464,484 D188A probably damaging Het
Arfgef1 T C 1: 10,199,829 E365G probably benign Het
Arhgef10 C T 8: 14,930,198 A146V probably benign Het
AW554918 C T 18: 25,289,944 Q151* probably null Het
Chd6 T C 2: 160,960,263 D2217G probably damaging Het
Cntn5 T A 9: 9,984,110 E166V probably damaging Het
Cyp4f15 T C 17: 32,699,952 S319P possibly damaging Het
Dna2 G A 10: 62,957,042 V279I possibly damaging Het
Edrf1 A G 7: 133,656,491 probably benign Het
Fmo3 A T 1: 162,958,483 F313I probably damaging Het
Kcnj10 A G 1: 172,369,654 D245G possibly damaging Het
Mfn1 A T 3: 32,574,290 H690L probably benign Het
Msh2 T C 17: 87,707,215 F474L probably damaging Het
Nlrp4a T G 7: 26,459,815 probably benign Het
Olfr1295 T A 2: 111,564,543 R300S possibly damaging Het
Olfr1424 A G 19: 12,059,447 F102L probably damaging Het
Olfr314 T A 11: 58,786,780 L182* probably null Het
Olfr561 T A 7: 102,775,298 I258N probably damaging Het
Olfr668 T C 7: 104,924,868 T299A probably damaging Het
Olfr955 G A 9: 39,470,246 T160I probably benign Het
Plcxd3 G A 15: 4,574,803 V298I possibly damaging Het
Prrc2b C T 2: 32,194,429 S302F probably damaging Het
Serpine2 A T 1: 79,801,555 F149I probably damaging Het
Slc24a5 T C 2: 125,088,234 L485P probably damaging Het
Spg11 T A 2: 122,059,507 H2118L probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stxbp1 T C 2: 32,819,901 D60G probably damaging Het
Themis2 T A 4: 132,783,484 E582D probably benign Het
Tmem131 T G 1: 36,793,151 I1802L probably benign Het
Tnrc6a A G 7: 123,171,473 K829E probably damaging Het
Usp8 T C 2: 126,734,023 M213T probably damaging Het
Wnk2 A G 13: 49,095,444 V377A probably damaging Het
Wwox T G 8: 115,351,704 Y375D probably damaging Het
Other mutations in Lrsam1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01393:Lrsam1 APN 2 32955173 splice site probably benign
IGL01407:Lrsam1 APN 2 32947903 missense probably damaging 0.99
IGL01565:Lrsam1 APN 2 32936495 missense probably damaging 1.00
IGL01985:Lrsam1 APN 2 32928091 missense probably benign
R0240:Lrsam1 UTSW 2 32955185 missense probably damaging 1.00
R0591:Lrsam1 UTSW 2 32933923 splice site probably benign
R0845:Lrsam1 UTSW 2 32953443 missense possibly damaging 0.94
R0945:Lrsam1 UTSW 2 32947909 missense probably benign 0.04
R1475:Lrsam1 UTSW 2 32954265 missense possibly damaging 0.48
R2147:Lrsam1 UTSW 2 32945879 missense probably damaging 1.00
R3790:Lrsam1 UTSW 2 32958159 missense probably null 1.00
R4374:Lrsam1 UTSW 2 32955191 missense possibly damaging 0.79
R4822:Lrsam1 UTSW 2 32926792 missense probably damaging 0.99
R5014:Lrsam1 UTSW 2 32936395 intron probably benign
R5472:Lrsam1 UTSW 2 32945858 frame shift probably null
R5566:Lrsam1 UTSW 2 32941858 missense probably damaging 1.00
R5640:Lrsam1 UTSW 2 32945852 missense probably benign 0.13
R5992:Lrsam1 UTSW 2 32955222 missense probably benign 0.00
Posted On2015-04-16