Incidental Mutation 'IGL01757:Lrrc46'
ID 153222
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc46
Ensembl Gene ENSMUSG00000020878
Gene Name leucine rich repeat containing 46
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.139) question?
Stock # IGL01757
Quality Score
Status
Chromosome 11
Chromosomal Location 97034602-97041407 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97035875 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 154 (Y154C)
Ref Sequence ENSEMBL: ENSMUSP00000021251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021249] [ENSMUST00000021251] [ENSMUST00000153482]
AlphaFold Q9DAP0
Predicted Effect probably benign
Transcript: ENSMUST00000021249
SMART Domains Protein: ENSMUSP00000021249
Gene: ENSMUSG00000020877

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:Peptidase_C69 83 254 2e-10 PFAM
coiled coil region 362 395 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000021251
AA Change: Y154C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021251
Gene: ENSMUSG00000020878
AA Change: Y154C

DomainStartEndE-ValueType
SCOP:d1h6ua2 44 150 1e-15 SMART
Blast:LRR 69 91 7e-6 BLAST
low complexity region 179 191 N/A INTRINSIC
low complexity region 209 225 N/A INTRINSIC
low complexity region 265 292 N/A INTRINSIC
low complexity region 297 323 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133054
Predicted Effect probably benign
Transcript: ENSMUST00000153482
SMART Domains Protein: ENSMUSP00000116606
Gene: ENSMUSG00000020877

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:Peptidase_C69 59 181 2.4e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,990,281 probably benign Het
Adamts9 T C 6: 92,796,159 Y1789C probably damaging Het
Cdcp1 A T 9: 123,180,001 Y537* probably null Het
Chic2 T C 5: 75,006,767 probably benign Het
Cpa5 G A 6: 30,625,927 probably benign Het
Csgalnact2 T C 6: 118,129,346 R4G probably damaging Het
Dnah10 T A 5: 124,768,927 V1510D probably benign Het
Dnm2 T A 9: 21,465,619 F91L probably damaging Het
Eif2b1 T C 5: 124,573,140 K189E probably benign Het
Fgf17 A T 14: 70,636,980 L123Q probably damaging Het
Ifna15 T C 4: 88,558,085 K54R possibly damaging Het
Isg15 A G 4: 156,199,844 C76R probably damaging Het
Ldb2 A T 5: 44,541,867 probably benign Het
Lig4 A G 8: 9,971,185 I865T probably benign Het
Lrrc8a G A 2: 30,255,525 R117H possibly damaging Het
Mrpl2 A G 17: 46,648,257 I96V probably damaging Het
Mtif2 G A 11: 29,541,337 probably benign Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Ptpn23 G A 9: 110,391,636 R269W probably damaging Het
Senp2 T C 16: 22,009,664 V8A probably benign Het
Slf1 T C 13: 77,084,440 D515G probably benign Het
Spc25 G A 2: 69,202,608 Q58* probably null Het
Sult2a5 T C 7: 13,665,154 S229P probably damaging Het
Tfap2d A G 1: 19,104,580 T86A probably benign Het
Trp53bp1 A G 2: 121,211,304 V1257A probably damaging Het
Wdr6 A G 9: 108,576,228 V152A possibly damaging Het
Zdhhc7 A G 8: 120,087,923 V49A probably benign Het
Zfp648 T C 1: 154,204,925 S277P probably damaging Het
Other mutations in Lrrc46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01933:Lrrc46 APN 11 97035528 missense probably benign 0.21
R0054:Lrrc46 UTSW 11 97038779 missense probably damaging 1.00
R0054:Lrrc46 UTSW 11 97038779 missense probably damaging 1.00
R0082:Lrrc46 UTSW 11 97041077 unclassified probably benign
R1104:Lrrc46 UTSW 11 97036171 missense probably damaging 1.00
R1756:Lrrc46 UTSW 11 97034730 unclassified probably benign
R2394:Lrrc46 UTSW 11 97038831 missense probably damaging 1.00
R2885:Lrrc46 UTSW 11 97034980 missense probably damaging 1.00
R2932:Lrrc46 UTSW 11 97041109 unclassified probably benign
R4361:Lrrc46 UTSW 11 97034670 unclassified probably benign
R4678:Lrrc46 UTSW 11 97034893 missense probably benign 0.37
R4989:Lrrc46 UTSW 11 97040939 missense probably damaging 1.00
R5150:Lrrc46 UTSW 11 97036131 missense probably damaging 1.00
R6390:Lrrc46 UTSW 11 97040931 missense probably damaging 1.00
R6467:Lrrc46 UTSW 11 97036479 missense possibly damaging 0.93
R6860:Lrrc46 UTSW 11 97035545 missense probably benign 0.05
R7373:Lrrc46 UTSW 11 97038880 missense probably benign 0.17
R8188:Lrrc46 UTSW 11 97040879 missense probably damaging 1.00
R9723:Lrrc46 UTSW 11 97034947 missense possibly damaging 0.63
Posted On 2014-02-04