Incidental Mutation 'IGL03257:Irx5'
ID414712
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Irx5
Ensembl Gene ENSMUSG00000031737
Gene NameIroquois homeobox 5
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03257
Quality Score
Status
Chromosome8
Chromosomal Location92357625-92376286 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 92360630 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 397 (T397A)
Ref Sequence ENSEMBL: ENSMUSP00000147339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034184] [ENSMUST00000210246]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000034183
Predicted Effect probably benign
Transcript: ENSMUST00000034184
AA Change: T397A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034184
Gene: ENSMUSG00000031737
AA Change: T397A

DomainStartEndE-ValueType
HOX 112 177 1.14e-12 SMART
low complexity region 185 202 N/A INTRINSIC
low complexity region 245 257 N/A INTRINSIC
low complexity region 307 327 N/A INTRINSIC
IRO 328 345 2.28e-5 SMART
low complexity region 351 369 N/A INTRINSIC
low complexity region 375 389 N/A INTRINSIC
low complexity region 417 439 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179222
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180102
Predicted Effect probably benign
Transcript: ENSMUST00000210246
AA Change: T397A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced body size, narrow eye opening, and impaired retinal cone bipolar cell development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 C A 14: 118,615,211 V489L probably benign Het
Alpk2 C A 18: 65,349,874 E354D probably damaging Het
Ank1 A T 8: 23,122,898 K1060M probably damaging Het
Cand2 A G 6: 115,799,983 N1111D possibly damaging Het
Ccny A T 18: 9,386,747 S73T possibly damaging Het
Clps T C 17: 28,560,660 probably benign Het
Cnga1 C A 5: 72,610,862 W160C probably damaging Het
Col6a5 T C 9: 105,881,873 S2045G possibly damaging Het
Dennd4a T G 9: 64,871,874 N546K possibly damaging Het
Efcab5 A T 11: 77,188,770 M50K probably damaging Het
Fntb A G 12: 76,888,031 H228R probably damaging Het
Gm4787 C T 12: 81,378,052 C444Y probably damaging Het
Gpm6a A G 8: 55,037,472 Y61C probably damaging Het
Grm5 T A 7: 87,602,898 S119T possibly damaging Het
Igf1r T A 7: 68,214,940 I1162N probably damaging Het
Kdm1b C T 13: 47,049,266 T59M probably damaging Het
Lrrc9 T A 12: 72,449,768 S57T probably benign Het
Nup210l A T 3: 90,180,148 probably null Het
Olfr1065 A T 2: 86,445,890 F31I probably damaging Het
Olfr472 T C 7: 107,902,756 I13T probably benign Het
Prl8a1 A G 13: 27,575,673 I127T probably damaging Het
Psme1 T C 14: 55,580,629 I142T probably damaging Het
Ptbp3 A T 4: 59,493,370 probably benign Het
Rnf20 T A 4: 49,645,687 N321K probably benign Het
Ttc23 T C 7: 67,711,378 S340P probably damaging Het
Txnrd1 A T 10: 82,885,271 K393I probably benign Het
Zfp365 A T 10: 67,889,038 F340Y possibly damaging Het
Zfp451 C A 1: 33,777,048 R607L possibly damaging Het
Zfp618 A G 4: 63,132,671 Y563C probably damaging Het
Other mutations in Irx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01735:Irx5 APN 8 92360703 missense probably damaging 1.00
IGL01870:Irx5 APN 8 92359777 missense probably damaging 1.00
IGL01985:Irx5 APN 8 92359527 splice site probably benign
IGL02481:Irx5 APN 8 92360679 missense probably damaging 1.00
IGL02597:Irx5 APN 8 92360772 missense possibly damaging 0.93
R0784:Irx5 UTSW 8 92360490 missense probably benign
R1498:Irx5 UTSW 8 92359886 missense probably damaging 1.00
R1762:Irx5 UTSW 8 92359644 missense probably damaging 1.00
R1783:Irx5 UTSW 8 92359688 missense probably damaging 1.00
R1951:Irx5 UTSW 8 92359810 missense probably damaging 1.00
R1953:Irx5 UTSW 8 92359810 missense probably damaging 1.00
R2019:Irx5 UTSW 8 92358364 missense probably damaging 1.00
R3875:Irx5 UTSW 8 92360165 missense probably benign 0.00
R3942:Irx5 UTSW 8 92359686 missense probably damaging 0.98
R4361:Irx5 UTSW 8 92358397 missense probably damaging 0.99
R4574:Irx5 UTSW 8 92358262 missense probably damaging 0.99
R4994:Irx5 UTSW 8 92360781 missense probably damaging 1.00
R5579:Irx5 UTSW 8 92359913 missense probably benign 0.01
R5884:Irx5 UTSW 8 92360630 missense possibly damaging 0.95
R5988:Irx5 UTSW 8 92360671 nonsense probably null
R6017:Irx5 UTSW 8 92358250 missense probably damaging 1.00
R6339:Irx5 UTSW 8 92359853 missense probably damaging 0.99
R6466:Irx5 UTSW 8 92359726 missense probably damaging 1.00
R6595:Irx5 UTSW 8 92359619 missense probably damaging 1.00
R7344:Irx5 UTSW 8 92359555 missense probably benign 0.24
R8166:Irx5 UTSW 8 92360084 splice site probably null
R8215:Irx5 UTSW 8 92359613 missense possibly damaging 0.77
R8396:Irx5 UTSW 8 92360334 missense probably benign 0.12
Posted On2016-08-02