Incidental Mutation 'IGL00468:Lrriq3'
ID6728
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrriq3
Ensembl Gene ENSMUSG00000028182
Gene Nameleucine-rich repeats and IQ motif containing 3
Synonyms4930511J15Rik, 4930438B07Rik, 4933403H06Rik, Lrrc44
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #IGL00468
Quality Score
Status
Chromosome3
Chromosomal Location155093434-155194280 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 155101179 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 155 (D155G)
Ref Sequence ENSEMBL: ENSMUSP00000142127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029833] [ENSMUST00000192383] [ENSMUST00000194376]
Predicted Effect probably damaging
Transcript: ENSMUST00000029833
AA Change: D155G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029833
Gene: ENSMUSG00000028182
AA Change: D155G

DomainStartEndE-ValueType
SCOP:d1dcea3 36 155 3e-14 SMART
Blast:LRR 71 94 3e-6 BLAST
Blast:LRR 96 118 1e-5 BLAST
IQ 214 236 3.68e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000192383
AA Change: D155G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141372
Gene: ENSMUSG00000028182
AA Change: D155G

DomainStartEndE-ValueType
Pfam:LRR_8 50 109 9e-9 PFAM
Pfam:LRR_4 72 117 1.9e-8 PFAM
Pfam:LRR_1 73 94 5.1e-3 PFAM
IQ 214 236 3.68e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000194376
AA Change: D155G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142127
Gene: ENSMUSG00000028182
AA Change: D155G

DomainStartEndE-ValueType
Pfam:LRR_8 50 109 7.2e-9 PFAM
Pfam:LRR_4 72 117 1.5e-8 PFAM
Pfam:LRR_1 73 94 4.2e-3 PFAM
IQ 214 236 3.68e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194899
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195418
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,580,453 E123G probably damaging Het
Alpk2 A T 18: 65,305,823 L1300Q probably benign Het
Armc9 T C 1: 86,198,339 Y51H probably damaging Het
Bcl11b A G 12: 107,965,815 V166A possibly damaging Het
Cfap70 T A 14: 20,412,462 D565V possibly damaging Het
Cops5 C A 1: 10,034,070 G132W probably damaging Het
Dync1i1 G A 6: 5,972,135 V468M probably damaging Het
Fam126b T G 1: 58,530,232 E396A probably benign Het
Fasn A C 11: 120,820,539 D216E probably damaging Het
Fktn T A 4: 53,734,866 I168K probably benign Het
Gal3st2c A G 1: 94,009,049 R239G probably benign Het
Glt6d1 A C 2: 25,811,029 L36R probably damaging Het
Herc3 A G 6: 58,918,766 I1000V probably benign Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Lhcgr C T 17: 88,742,446 V551I probably benign Het
Lmna G T 3: 88,484,684 S437R probably benign Het
Lrrc49 A G 9: 60,687,868 probably benign Het
Mcf2 G A X: 60,133,735 T104I probably damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mipep A G 14: 60,875,260 E664G probably benign Het
Mybpc1 A T 10: 88,549,262 V519D probably damaging Het
Nfil3 C A 13: 52,967,574 L431F probably damaging Het
Sctr T A 1: 120,044,720 V197E probably damaging Het
Sesn2 T C 4: 132,499,813 T103A probably benign Het
Sptbn4 A T 7: 27,417,965 V453D probably damaging Het
Supt5 A T 7: 28,315,382 H1023Q probably benign Het
Tcof1 T C 18: 60,814,568 probably benign Het
Tekt2 T A 4: 126,323,189 E262D possibly damaging Het
Tenm4 T A 7: 96,874,472 H1732Q probably damaging Het
Tln2 T C 9: 67,344,187 D840G possibly damaging Het
Tox4 A G 14: 52,285,745 D54G probably damaging Het
Other mutations in Lrriq3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Lrriq3 APN 3 155101061 missense probably benign 0.29
IGL03272:Lrriq3 APN 3 155101058 missense probably damaging 0.99
PIT1430001:Lrriq3 UTSW 3 155098870 missense probably benign 0.36
R0526:Lrriq3 UTSW 3 155188297 missense probably benign 0.00
R0600:Lrriq3 UTSW 3 155187736 missense possibly damaging 0.51
R1420:Lrriq3 UTSW 3 155187712 missense probably benign
R2313:Lrriq3 UTSW 3 155164023 missense probably benign 0.00
R4024:Lrriq3 UTSW 3 155188302 missense probably benign 0.43
R4659:Lrriq3 UTSW 3 155129453 missense possibly damaging 0.47
R4801:Lrriq3 UTSW 3 155187970 missense probably benign
R4802:Lrriq3 UTSW 3 155187970 missense probably benign
R4864:Lrriq3 UTSW 3 155187810 missense possibly damaging 0.91
R4998:Lrriq3 UTSW 3 155188058 missense probably benign 0.13
R5120:Lrriq3 UTSW 3 155129384 missense probably benign 0.14
R5319:Lrriq3 UTSW 3 155129471 missense possibly damaging 0.88
R5406:Lrriq3 UTSW 3 155129501 critical splice donor site probably null
R5943:Lrriq3 UTSW 3 155163950 missense probably damaging 0.99
R6184:Lrriq3 UTSW 3 155129402 missense probably benign 0.09
R6572:Lrriq3 UTSW 3 155181675 missense probably benign 0.01
R7389:Lrriq3 UTSW 3 155188104 missense probably benign 0.00
R7537:Lrriq3 UTSW 3 155101097 missense probably damaging 1.00
R7636:Lrriq3 UTSW 3 155188150 missense probably damaging 1.00
R7806:Lrriq3 UTSW 3 155098807 missense probably damaging 0.99
R8038:Lrriq3 UTSW 3 155164001 missense probably benign 0.03
R8361:Lrriq3 UTSW 3 155101218 nonsense probably null
R8439:Lrriq3 UTSW 3 155188236 missense probably damaging 0.99
R8771:Lrriq3 UTSW 3 155193633 missense probably damaging 1.00
R8864:Lrriq3 UTSW 3 155187938 missense probably damaging 1.00
R8929:Lrriq3 UTSW 3 155188182 missense probably damaging 1.00
Posted On2012-04-20