Incidental Mutation 'IGL01393:Lrsam1'
ID 79322
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrsam1
Ensembl Gene ENSMUSG00000026792
Gene Name leucine rich repeat and sterile alpha motif containing 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL01393
Quality Score
Status
Chromosome 2
Chromosomal Location 32815228-32851626 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 32845185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028132] [ENSMUST00000113200] [ENSMUST00000124492] [ENSMUST00000127321] [ENSMUST00000133832] [ENSMUST00000145578] [ENSMUST00000147528] [ENSMUST00000191838]
AlphaFold Q80ZI6
Predicted Effect probably benign
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: 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: ENSMUST00000124492
Predicted Effect probably benign
Transcript: ENSMUST00000127321
SMART Domains Protein: ENSMUSP00000115830
Gene: ENSMUSG00000026792

DomainStartEndE-ValueType
LRR 80 102 1.26e1 SMART
LRR_TYP 103 126 1.79e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133832
SMART Domains Protein: ENSMUSP00000117194
Gene: ENSMUSG00000026792

DomainStartEndE-ValueType
LRR 80 102 1.26e1 SMART
LRR_TYP 103 126 1.79e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145578
Predicted Effect probably benign
Transcript: ENSMUST00000147528
SMART Domains Protein: ENSMUSP00000122877
Gene: ENSMUSG00000026792

DomainStartEndE-ValueType
Pfam:LRR_1 32 52 8.9e-2 PFAM
LRR 80 102 1.26e1 SMART
LRR 103 124 3.75e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191838
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik G A 14: 35,818,379 (GRCm39) V126I possibly damaging Het
A630073D07Rik G T 6: 132,603,577 (GRCm39) Q60K unknown Het
Alpk2 A G 18: 65,440,779 (GRCm39) S205P possibly damaging Het
Ang4 T A 14: 52,001,670 (GRCm39) I93L probably benign Het
Arpin A G 7: 79,581,588 (GRCm39) V44A possibly damaging Het
Atxn3 A T 12: 101,899,306 (GRCm39) C263* probably null Het
Cd209f T C 8: 4,153,154 (GRCm39) N260S probably damaging Het
Cdh20 A G 1: 104,861,969 (GRCm39) R50G probably benign Het
Cracd T C 5: 77,006,818 (GRCm39) S1060P unknown Het
Csmd3 C T 15: 48,320,995 (GRCm39) V272I possibly damaging Het
Dst A T 1: 34,206,706 (GRCm39) Y1136F possibly damaging Het
Fam20c A G 5: 138,793,026 (GRCm39) Y420C probably damaging Het
Fancd2 T A 6: 113,554,321 (GRCm39) probably benign Het
Fat2 T C 11: 55,160,135 (GRCm39) D3326G probably benign Het
Filip1l A G 16: 57,392,586 (GRCm39) N820S probably damaging Het
Gm26566 G A 4: 88,640,581 (GRCm39) probably benign Het
Gm4792 A G 10: 94,134,304 (GRCm39) L22P unknown Het
Gpat2 A G 2: 127,274,571 (GRCm39) E386G probably damaging Het
Grm3 T C 5: 9,639,856 (GRCm39) D63G probably benign Het
Hdc A G 2: 126,436,581 (GRCm39) V430A probably benign Het
Hnf4a T C 2: 163,393,492 (GRCm39) probably benign Het
Il2ra A G 2: 11,687,865 (GRCm39) D215G probably damaging Het
Kctd3 T C 1: 188,732,487 (GRCm39) I74V probably benign Het
Kctd5 A T 17: 24,278,292 (GRCm39) probably null Het
Mblac1 A G 5: 138,193,036 (GRCm39) N126S possibly damaging Het
Mmrn1 T A 6: 60,937,692 (GRCm39) probably benign Het
Mpp3 A T 11: 101,916,304 (GRCm39) L16Q probably damaging Het
Mrgprb1 C A 7: 48,097,754 (GRCm39) A53S possibly damaging Het
Nbea C A 3: 55,912,729 (GRCm39) M1019I probably benign Het
Nlrp5 A G 7: 23,103,599 (GRCm39) K22R probably null Het
Or1j4 G A 2: 36,740,553 (GRCm39) R165Q probably benign Het
Or2ag18 C T 7: 106,405,642 (GRCm39) G9E probably benign Het
Or4k48 A G 2: 111,475,601 (GRCm39) V247A probably damaging Het
Pard6b T A 2: 167,929,298 (GRCm39) S35T probably benign Het
Peli1 T C 11: 21,097,400 (GRCm39) V215A probably benign Het
Pkp4 A T 2: 59,178,269 (GRCm39) D1003V probably damaging Het
Pot1a G A 6: 25,744,630 (GRCm39) R625* probably null Het
Ppp1r16a T C 15: 76,578,744 (GRCm39) S483P probably benign Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Prrg3 T C X: 71,011,123 (GRCm39) V210A probably benign Het
Rev1 A G 1: 38,131,144 (GRCm39) V168A probably damaging Het
Sez6l G T 5: 112,586,261 (GRCm39) probably benign Het
Spag17 A G 3: 99,934,926 (GRCm39) T711A possibly damaging Het
Spice1 A G 16: 44,186,993 (GRCm39) I163M probably benign Het
Tex13c1 C T X: 42,680,233 (GRCm39) A66V probably damaging Het
Tmem132d A T 5: 127,861,702 (GRCm39) S806R probably benign Het
Tnc A G 4: 63,932,291 (GRCm39) probably benign Het
Tpbg T A 9: 85,726,145 (GRCm39) V38E unknown Het
Unc13c T A 9: 73,447,552 (GRCm39) I1883F probably benign Het
Vmn2r61 A C 7: 41,916,258 (GRCm39) Q290H probably benign Het
Vps39 A G 2: 120,180,719 (GRCm39) probably benign Het
Zfp369 T C 13: 65,442,288 (GRCm39) V294A possibly damaging Het
Zfp821 T A 8: 110,436,110 (GRCm39) probably benign Het
Zfp941 C T 7: 140,391,841 (GRCm39) G506E probably damaging Het
Other mutations in Lrsam1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01407:Lrsam1 APN 2 32,837,915 (GRCm39) missense probably damaging 0.99
IGL01565:Lrsam1 APN 2 32,826,507 (GRCm39) missense probably damaging 1.00
IGL01985:Lrsam1 APN 2 32,818,103 (GRCm39) missense probably benign
IGL02743:Lrsam1 APN 2 32,818,661 (GRCm39) splice site probably null
R0240:Lrsam1 UTSW 2 32,845,197 (GRCm39) missense probably damaging 1.00
R0591:Lrsam1 UTSW 2 32,823,935 (GRCm39) splice site probably benign
R0845:Lrsam1 UTSW 2 32,843,455 (GRCm39) missense possibly damaging 0.94
R0945:Lrsam1 UTSW 2 32,837,921 (GRCm39) missense probably benign 0.04
R1475:Lrsam1 UTSW 2 32,844,277 (GRCm39) missense possibly damaging 0.48
R2147:Lrsam1 UTSW 2 32,835,891 (GRCm39) missense probably damaging 1.00
R3790:Lrsam1 UTSW 2 32,848,171 (GRCm39) missense probably null 1.00
R4374:Lrsam1 UTSW 2 32,845,203 (GRCm39) missense possibly damaging 0.79
R4822:Lrsam1 UTSW 2 32,816,804 (GRCm39) missense probably damaging 0.99
R5014:Lrsam1 UTSW 2 32,826,407 (GRCm39) intron probably benign
R5472:Lrsam1 UTSW 2 32,835,870 (GRCm39) frame shift probably null
R5566:Lrsam1 UTSW 2 32,831,870 (GRCm39) missense probably damaging 1.00
R5640:Lrsam1 UTSW 2 32,835,864 (GRCm39) missense probably benign 0.13
R5992:Lrsam1 UTSW 2 32,845,234 (GRCm39) missense probably benign 0.00
R7513:Lrsam1 UTSW 2 32,843,497 (GRCm39) missense probably benign 0.02
R7515:Lrsam1 UTSW 2 32,830,251 (GRCm39) critical splice donor site probably null
R8113:Lrsam1 UTSW 2 32,837,901 (GRCm39) missense possibly damaging 0.94
R9731:Lrsam1 UTSW 2 32,835,452 (GRCm39) critical splice donor site probably null
R9766:Lrsam1 UTSW 2 32,818,077 (GRCm39) missense probably benign
Z1176:Lrsam1 UTSW 2 32,831,826 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05