Incidental Mutation 'IGL02308:Irx6'
ID287696
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Irx6
Ensembl Gene ENSMUSG00000031738
Gene NameIroquois homeobox 6
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #IGL02308
Quality Score
Status
Chromosome8
Chromosomal Location92674288-92680956 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 92677031 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 128 (L128Q)
Ref Sequence ENSEMBL: ENSMUSP00000034185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034185] [ENSMUST00000167261]
Predicted Effect probably damaging
Transcript: ENSMUST00000034185
AA Change: L128Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034185
Gene: ENSMUSG00000031738
AA Change: L128Q

DomainStartEndE-ValueType
low complexity region 19 24 N/A INTRINSIC
low complexity region 38 46 N/A INTRINSIC
HOX 143 208 1.76e-13 SMART
coiled coil region 247 280 N/A INTRINSIC
IRO 338 355 9e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167261
AA Change: L128Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127446
Gene: ENSMUSG00000031738
AA Change: L128Q

DomainStartEndE-ValueType
low complexity region 19 24 N/A INTRINSIC
low complexity region 38 46 N/A INTRINSIC
HOX 143 208 1.76e-13 SMART
coiled coil region 247 280 N/A INTRINSIC
IRO 338 355 9e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210252
Meta Mutation Damage Score 0.4225 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display abnormalities in retinal bipolar cell subtype identity and reduced electroretinography a and b wave amplitudes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G A 11: 72,202,482 S8F probably damaging Het
Alpk1 T A 3: 127,729,282 Q37L probably damaging Het
Cfap43 T C 19: 47,748,024 T1343A probably benign Het
Cmbl C A 15: 31,585,408 P146Q possibly damaging Het
Cog2 A T 8: 124,533,212 probably null Het
Dgkh C A 14: 78,587,576 V880L probably benign Het
Dopey1 T C 9: 86,520,088 S1114P probably damaging Het
Eif5b T A 1: 38,041,747 V723D probably damaging Het
Gdf11 A G 10: 128,885,384 Y314H probably damaging Het
Gm10110 T C 14: 89,897,595 noncoding transcript Het
Gm960 T C 19: 4,663,555 K132E probably damaging Het
Gria1 G A 11: 57,236,924 V320I probably benign Het
H2-Q10 T A 17: 35,473,566 *326R probably null Het
Kif21b T A 1: 136,159,757 L937Q probably damaging Het
Lama5 A G 2: 180,190,327 probably benign Het
Mios A G 6: 8,231,269 I718V probably benign Het
Mroh8 A G 2: 157,254,973 V318A probably damaging Het
Nags A G 11: 102,149,071 *528W probably null Het
Nom1 T A 5: 29,437,710 V403D probably damaging Het
Npffr2 C A 5: 89,583,451 N413K probably benign Het
Olfr394 A T 11: 73,888,295 Y26N probably benign Het
Olfr671 T A 7: 104,975,458 I176F possibly damaging Het
Olr1 C T 6: 129,499,897 R135K possibly damaging Het
Pkhd1 A G 1: 20,070,376 probably null Het
Ptpro A G 6: 137,454,700 M1158V probably benign Het
Sh3d19 A G 3: 86,093,710 K238E probably damaging Het
Smarcc2 G T 10: 128,482,772 R641L probably damaging Het
Th T C 7: 142,898,057 E75G possibly damaging Het
Tlr1 A T 5: 64,925,947 L429* probably null Het
Ttn G A 2: 76,894,361 R2107* probably null Het
Ubr2 A T 17: 46,934,193 C1636S probably damaging Het
Vmn2r100 T A 17: 19,521,335 I103K possibly damaging Het
Vmn2r88 A G 14: 51,417,980 M558V possibly damaging Het
Zzef1 G A 11: 72,886,747 M1801I probably benign Het
Other mutations in Irx6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01976:Irx6 APN 8 92676089 nonsense probably null
R0308:Irx6 UTSW 8 92677031 missense probably damaging 1.00
R1191:Irx6 UTSW 8 92676952 missense probably damaging 1.00
R1251:Irx6 UTSW 8 92678253 missense possibly damaging 0.87
R4161:Irx6 UTSW 8 92676291 missense possibly damaging 0.78
R4368:Irx6 UTSW 8 92678401 missense probably damaging 1.00
R4924:Irx6 UTSW 8 92678353 missense probably benign 0.25
R4950:Irx6 UTSW 8 92678800 missense probably damaging 1.00
R5425:Irx6 UTSW 8 92677517 critical splice donor site probably null
R6455:Irx6 UTSW 8 92676072 missense probably benign 0.04
R6969:Irx6 UTSW 8 92677330 missense probably damaging 1.00
R7019:Irx6 UTSW 8 92678734 missense probably damaging 0.99
R7128:Irx6 UTSW 8 92677366 missense probably damaging 1.00
R7133:Irx6 UTSW 8 92678413 missense probably damaging 1.00
R8182:Irx6 UTSW 8 92677014 nonsense probably null
R8546:Irx6 UTSW 8 92678636 missense probably benign 0.19
R8955:Irx6 UTSW 8 92678412 missense probably damaging 1.00
Z1176:Irx6 UTSW 8 92678371 missense possibly damaging 0.91
Posted On2015-04-16