Incidental Mutation 'R1191:Irx6'
ID 100807
Institutional Source Beutler Lab
Gene Symbol Irx6
Ensembl Gene ENSMUSG00000031738
Gene Name Iroquois homeobox 6
Synonyms
MMRRC Submission 039263-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R1191 (G1)
Quality Score 197
Status Not validated
Chromosome 8
Chromosomal Location 93400917-93407584 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 93403580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 102 (Y102N)
Ref Sequence ENSEMBL: ENSMUSP00000034185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034185] [ENSMUST00000167261]
AlphaFold Q9ER75
Predicted Effect probably damaging
Transcript: ENSMUST00000034185
AA Change: Y102N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034185
Gene: ENSMUSG00000031738
AA Change: Y102N

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: Y102N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127446
Gene: ENSMUSG00000031738
AA Change: Y102N

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.3%
  • 10x: 95.1%
  • 20x: 87.9%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd27 T C 7: 35,301,912 (GRCm39) F144L probably damaging Het
C8b C T 4: 104,650,520 (GRCm39) P377S probably damaging Het
Cfi C A 3: 129,662,176 (GRCm39) T385N probably benign Het
Col15a1 G T 4: 47,254,083 (GRCm39) G300* probably null Het
Crlf1 G A 8: 70,951,478 (GRCm39) C119Y probably damaging Het
Dcaf4 A T 12: 83,582,741 (GRCm39) S279C probably damaging Het
Gde1 A T 7: 118,304,664 (GRCm39) H70Q probably damaging Het
Gpt2 A T 8: 86,235,901 (GRCm39) N179I probably damaging Het
Grik5 G A 7: 24,757,750 (GRCm39) Q410* probably null Het
Hspa2 C T 12: 76,452,655 (GRCm39) R450W probably damaging Het
Idh3b A T 2: 130,123,810 (GRCm39) M118K probably benign Het
Ighv5-21 T C 12: 114,286,423 (GRCm39) probably benign Het
Il12rb2 C T 6: 67,275,200 (GRCm39) V642M possibly damaging Het
Iqcg A G 16: 32,870,313 (GRCm39) V60A probably benign Het
Itgb6 C T 2: 60,483,481 (GRCm39) probably null Het
Mmp27 A T 9: 7,579,067 (GRCm39) probably null Het
Or10d5j A T 9: 39,868,264 (GRCm39) M1K probably null Het
Or1j21 T A 2: 36,683,350 (GRCm39) M34K probably damaging Het
Or2f2 C A 6: 42,767,451 (GRCm39) H159Q probably benign Het
Or5k8 T A 16: 58,644,922 (GRCm39) Y50F probably benign Het
Or8c8 G T 9: 38,165,501 (GRCm39) V263F probably damaging Het
Pcdhb16 A G 18: 37,612,926 (GRCm39) R629G probably damaging Het
Pde3b A T 7: 114,118,810 (GRCm39) M650L probably benign Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Skint3 T A 4: 112,092,939 (GRCm39) M1K probably null Het
Strn T C 17: 78,999,855 (GRCm39) Q127R possibly damaging Het
Taar2 T G 10: 23,816,927 (GRCm39) W156G probably damaging Het
Trpt1 G T 19: 6,974,138 (GRCm39) M45I probably benign Het
Ubap2l T C 3: 89,930,882 (GRCm39) T357A probably damaging Het
Ubr3 C T 2: 69,851,525 (GRCm39) R1831* probably null Het
Unc79 T A 12: 103,013,271 (GRCm39) Y287* probably null Het
Utrn T A 10: 12,509,777 (GRCm39) K2398N probably benign Het
Vav2 A T 2: 27,182,792 (GRCm39) probably null Het
Vps9d1 A T 8: 123,974,706 (GRCm39) H249Q possibly damaging Het
Vwf T A 6: 125,576,215 (GRCm39) C432S probably damaging Het
Zfp369 T A 13: 65,439,776 (GRCm39) Y153* probably null Het
Zfp760 C T 17: 21,942,286 (GRCm39) P487L probably damaging Het
Zswim2 A C 2: 83,754,039 (GRCm39) V207G possibly damaging Het
Other mutations in Irx6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01976:Irx6 APN 8 93,402,717 (GRCm39) nonsense probably null
IGL02308:Irx6 APN 8 93,403,659 (GRCm39) missense probably damaging 1.00
R0308:Irx6 UTSW 8 93,403,659 (GRCm39) missense probably damaging 1.00
R1251:Irx6 UTSW 8 93,404,881 (GRCm39) missense possibly damaging 0.87
R4161:Irx6 UTSW 8 93,402,919 (GRCm39) missense possibly damaging 0.78
R4368:Irx6 UTSW 8 93,405,029 (GRCm39) missense probably damaging 1.00
R4924:Irx6 UTSW 8 93,404,981 (GRCm39) missense probably benign 0.25
R4950:Irx6 UTSW 8 93,405,428 (GRCm39) missense probably damaging 1.00
R5425:Irx6 UTSW 8 93,404,145 (GRCm39) critical splice donor site probably null
R6455:Irx6 UTSW 8 93,402,700 (GRCm39) missense probably benign 0.04
R6969:Irx6 UTSW 8 93,403,958 (GRCm39) missense probably damaging 1.00
R7019:Irx6 UTSW 8 93,405,362 (GRCm39) missense probably damaging 0.99
R7128:Irx6 UTSW 8 93,403,994 (GRCm39) missense probably damaging 1.00
R7133:Irx6 UTSW 8 93,405,041 (GRCm39) missense probably damaging 1.00
R8182:Irx6 UTSW 8 93,403,642 (GRCm39) nonsense probably null
R8546:Irx6 UTSW 8 93,405,264 (GRCm39) missense probably benign 0.19
R8955:Irx6 UTSW 8 93,405,040 (GRCm39) missense probably damaging 1.00
Z1176:Irx6 UTSW 8 93,404,999 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- CAAGTACTCTGCCAGTATGACTGCC -3'
(R):5'- AGCACTGCTCAATTCCACTCCG -3'

Sequencing Primer
(F):5'- GCCTTCCTTGcctcagtcttag -3'
(R):5'- ACAGGGGCTCAGATTCCAG -3'
Posted On 2014-01-15