Incidental Mutation 'IGL01393:Lrsam1'
ID79322
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: 0.100) question?
Stock #IGL01393
Quality Score
Status
Chromosome2
Chromosomal Location32925216-32961614 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 32955173 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028132] [ENSMUST00000113200] [ENSMUST00000124492] [ENSMUST00000127321] [ENSMUST00000133832] [ENSMUST00000145578] [ENSMUST00000147528] [ENSMUST00000191838]
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: 36,096,422 V126I possibly damaging Het
A630073D07Rik G T 6: 132,626,614 Q60K unknown Het
Alpk2 A G 18: 65,307,708 S205P possibly damaging Het
Ang4 T A 14: 51,764,213 I93L probably benign Het
Arpin A G 7: 79,931,840 V44A possibly damaging Het
Atxn3 A T 12: 101,933,047 C263* probably null Het
C530008M17Rik T C 5: 76,858,971 S1060P unknown Het
Cd209f T C 8: 4,103,154 N260S probably damaging Het
Cdh20 A G 1: 104,934,244 R50G probably benign Het
Csmd3 C T 15: 48,457,599 V272I possibly damaging Het
Dst A T 1: 34,167,625 Y1136F possibly damaging Het
Fam20c A G 5: 138,807,271 Y420C probably damaging Het
Fancd2 T A 6: 113,577,360 probably benign Het
Fat2 T C 11: 55,269,309 D3326G probably benign Het
Filip1l A G 16: 57,572,223 N820S probably damaging Het
Gm26566 G A 4: 88,722,344 probably benign Het
Gm4792 A G 10: 94,298,442 L22P unknown Het
Gpat2 A G 2: 127,432,651 E386G probably damaging Het
Grm3 T C 5: 9,589,856 D63G probably benign Het
Hdc A G 2: 126,594,661 V430A probably benign Het
Hnf4a T C 2: 163,551,572 probably benign Het
Il2ra A G 2: 11,683,054 D215G probably damaging Het
Kctd3 T C 1: 189,000,290 I74V probably benign Het
Kctd5 A T 17: 24,059,318 probably null Het
Mblac1 A G 5: 138,194,774 N126S possibly damaging Het
Mmrn1 T A 6: 60,960,708 probably benign Het
Mpp3 A T 11: 102,025,478 L16Q probably damaging Het
Mrgprb1 C A 7: 48,448,006 A53S possibly damaging Het
Nbea C A 3: 56,005,308 M1019I probably benign Het
Nlrp5 A G 7: 23,404,174 K22R probably null Het
Olfr1298 A G 2: 111,645,256 V247A probably damaging Het
Olfr350 G A 2: 36,850,541 R165Q probably benign Het
Olfr700 C T 7: 106,806,435 G9E probably benign Het
Pard6b T A 2: 168,087,378 S35T probably benign Het
Peli1 T C 11: 21,147,400 V215A probably benign Het
Pkp4 A T 2: 59,347,925 D1003V probably damaging Het
Pot1a G A 6: 25,744,631 R625* probably null Het
Ppp1r16a T C 15: 76,694,544 S483P probably benign Het
Prpf8 C A 11: 75,494,295 A794D possibly damaging Het
Prrg3 T C X: 71,967,517 V210A probably benign Het
Rev1 A G 1: 38,092,063 V168A probably damaging Het
Sez6l G T 5: 112,438,395 probably benign Het
Spag17 A G 3: 100,027,610 T711A possibly damaging Het
Spice1 A G 16: 44,366,630 I163M probably benign Het
Tex13c1 C T X: 43,591,356 A66V probably damaging Het
Tmem132d A T 5: 127,784,638 S806R probably benign Het
Tnc A G 4: 64,014,054 probably benign Het
Tpbg T A 9: 85,844,092 V38E unknown Het
Unc13c T A 9: 73,540,270 I1883F probably benign Het
Vmn2r61 A C 7: 42,266,834 Q290H probably benign Het
Vps39 A G 2: 120,350,238 probably benign Het
Zfp369 T C 13: 65,294,474 V294A possibly damaging Het
Zfp821 T A 8: 109,709,478 probably benign Het
Zfp941 C T 7: 140,811,928 G506E probably damaging Het
Other mutations in Lrsam1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02743:Lrsam1 APN 2 32928649 splice site probably null
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
R7513:Lrsam1 UTSW 2 32953485 missense probably benign 0.02
R7515:Lrsam1 UTSW 2 32940239 critical splice donor site probably null
Z1176:Lrsam1 UTSW 2 32941814 missense probably damaging 1.00
Posted On2013-11-05