Incidental Mutation 'IGL01985:Irx5'
ID181889
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 #IGL01985
Quality Score
Status
Chromosome8
Chromosomal Location92357625-92376286 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 92359527 bp
ZygosityHeterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000034184
Gene: ENSMUSG00000031737

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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cass4 A C 2: 172,427,206 S403R probably damaging Het
Ccdc175 A T 12: 72,128,278 Y540* probably null Het
Cep164 C T 9: 45,779,606 E1266K probably damaging Het
Clec12b T A 6: 129,382,371 probably benign Het
Col6a5 T C 9: 105,937,283 K510R unknown Het
Crisp4 G A 1: 18,134,065 P101S probably damaging Het
Dapk1 T C 13: 60,736,260 L614P probably damaging Het
Dip2c T C 13: 9,553,267 probably benign Het
Dock7 A G 4: 99,023,377 F589L probably benign Het
Dvl2 T A 11: 70,008,293 V459E probably damaging Het
E2f6 T C 12: 16,819,063 probably null Het
Exph5 T C 9: 53,376,569 L1650P probably damaging Het
Farp2 A G 1: 93,607,602 Y691C probably damaging Het
Fshb T C 2: 107,058,828 T44A probably benign Het
Gm13178 G A 4: 144,715,454 Q76* probably null Het
Gm28044 T A 13: 67,347,894 K28* probably null Het
Il12b G A 11: 44,408,054 W112* probably null Het
Ino80 T C 2: 119,433,321 T621A probably damaging Het
Jmy T C 13: 93,459,636 H495R possibly damaging Het
Kif21a A T 15: 90,991,767 V321D probably damaging Het
Lrrc10 T A 10: 117,046,016 D198E probably damaging Het
Lrsam1 T C 2: 32,928,091 E651G probably benign Het
Marc1 A G 1: 184,787,734 V230A probably damaging Het
Mylk4 T A 13: 32,717,581 I475L possibly damaging Het
Myom3 G A 4: 135,765,702 probably null Het
Olfr201 A T 16: 59,269,079 V196E probably benign Het
Pah G A 10: 87,578,982 V399M probably damaging Het
Pik3r4 G A 9: 105,663,045 E711K probably benign Het
Rbbp6 A G 7: 122,971,073 K38E probably damaging Het
Ror1 G A 4: 100,425,964 V409M possibly damaging Het
Slc6a11 T A 6: 114,134,892 V140D probably benign Het
Srebf2 G T 15: 82,192,359 A737S probably benign Het
Tcerg1 A G 18: 42,530,656 T303A unknown Het
Tmem74 A T 15: 43,867,080 I189N probably damaging Het
Tnr A G 1: 159,919,037 D1242G possibly damaging Het
U2surp A T 9: 95,490,226 F293L probably damaging Het
Uchl5 G A 1: 143,786,126 probably benign Het
Usp34 T A 11: 23,452,565 C2472S probably damaging Het
Usp42 G A 5: 143,715,185 R1028W probably damaging Het
Vmn2r10 A G 5: 109,006,259 S60P probably benign Het
Vmn2r31 G T 7: 7,394,511 D249E probably benign Het
Vnn1 C T 10: 23,900,744 T331I probably benign Het
Zmym6 G T 4: 127,100,748 V232F 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
IGL02481:Irx5 APN 8 92360679 missense probably damaging 1.00
IGL02597:Irx5 APN 8 92360772 missense possibly damaging 0.93
IGL03257:Irx5 APN 8 92360630 missense probably benign 0.00
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 On2014-05-07