Incidental Mutation 'IGL03272:Lrriq3'
ID415303
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: 0.122) question?
Stock #IGL03272
Quality Score
Status
Chromosome3
Chromosomal Location155093434-155194280 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 155101058 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 115 (I115F)
Ref Sequence ENSEMBL: ENSMUSP00000142127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029833] [ENSMUST00000192383] [ENSMUST00000194376]
Predicted Effect probably damaging
Transcript: ENSMUST00000029833
AA Change: I115F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029833
Gene: ENSMUSG00000028182
AA Change: I115F

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: I115F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141372
Gene: ENSMUSG00000028182
AA Change: I115F

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: I115F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142127
Gene: ENSMUSG00000028182
AA Change: I115F

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530099J19Rik A T 13: 19,729,537 noncoding transcript Het
Acp2 C T 2: 91,204,233 probably benign Het
B4galnt3 T C 6: 120,216,306 D413G probably damaging Het
Chd2 T C 7: 73,453,166 D1357G possibly damaging Het
Dsg1b T C 18: 20,397,389 L367P probably benign Het
Emsy A T 7: 98,593,762 F1057I probably damaging Het
Fam171a2 A T 11: 102,444,118 F64L possibly damaging Het
Fat4 T C 3: 39,009,703 S4603P probably benign Het
Fyco1 T C 9: 123,829,603 T503A probably benign Het
Gpr179 T C 11: 97,336,593 T1579A possibly damaging Het
Itgae T C 11: 73,133,854 probably null Het
Mmrn1 A G 6: 60,988,435 D1149G probably damaging Het
Mylk A C 16: 34,979,189 K1650Q probably benign Het
Nrap T C 19: 56,345,568 probably benign Het
Olfr193 A C 16: 59,110,556 V18G probably benign Het
Ovgp1 T A 3: 105,981,325 D332E probably damaging Het
Pou2f1 A T 1: 165,896,480 I296K possibly damaging Het
Psd4 A G 2: 24,405,680 probably benign Het
Satb2 T C 1: 56,845,643 Q433R probably damaging Het
Serpinb9f A T 13: 33,327,916 N134I probably damaging Het
Slc6a3 A G 13: 73,540,929 N124S probably damaging Het
Spta1 A G 1: 174,214,144 N1360S probably benign Het
Strc G A 2: 121,371,751 T1212I probably damaging Het
Tmtc3 T C 10: 100,457,080 K472R probably benign Het
Other mutations in Lrriq3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Lrriq3 APN 3 155101061 missense probably benign 0.29
IGL00468:Lrriq3 APN 3 155101179 missense probably damaging 1.00
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
Posted On2016-08-02