Incidental Mutation 'IGL01291:Irx4'
ID72911
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Irx4
Ensembl Gene ENSMUSG00000021604
Gene NameIroquois homeobox 4
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.780) question?
Stock #IGL01291
Quality Score
Status
Chromosome13
Chromosomal Location73260479-73269608 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 73267667 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 192 (T192A)
Ref Sequence ENSEMBL: ENSMUSP00000134738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022095] [ENSMUST00000176684]
Predicted Effect probably damaging
Transcript: ENSMUST00000022095
AA Change: T192A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022095
Gene: ENSMUSG00000021604
AA Change: T192A

DomainStartEndE-ValueType
low complexity region 71 84 N/A INTRINSIC
low complexity region 116 129 N/A INTRINSIC
HOX 143 208 5.33e-13 SMART
low complexity region 223 238 N/A INTRINSIC
low complexity region 252 268 N/A INTRINSIC
IRO 362 379 6.36e-4 SMART
low complexity region 399 419 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000176684
AA Change: T192A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134738
Gene: ENSMUSG00000021604
AA Change: T192A

DomainStartEndE-ValueType
low complexity region 71 84 N/A INTRINSIC
low complexity region 116 129 N/A INTRINSIC
HOX 143 208 5.33e-13 SMART
low complexity region 223 238 N/A INTRINSIC
low complexity region 252 268 N/A INTRINSIC
IRO 362 379 6.36e-4 SMART
low complexity region 399 419 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation exhibit abnormal ventricular gene expression followed by cardiomyopathy with hypertrophy and impaired contractile function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T A 5: 114,225,870 F1464Y probably benign Het
Adgrg6 G A 10: 14,410,530 A1114V possibly damaging Het
Agl A G 3: 116,772,789 I975T possibly damaging Het
Arhgef11 T C 3: 87,733,174 W1213R probably benign Het
Ccar1 T A 10: 62,756,649 E708V probably damaging Het
Cilp T C 9: 65,278,983 S787P possibly damaging Het
Col5a1 T A 2: 27,971,444 probably benign Het
Col6a3 G A 1: 90,802,292 T1157I probably damaging Het
Dock3 T C 9: 106,958,400 probably benign Het
Dusp19 A G 2: 80,624,274 T113A probably benign Het
Dync1h1 A C 12: 110,649,104 Y2957S probably benign Het
Fcho1 A T 8: 71,712,547 L422Q probably benign Het
Gca T A 2: 62,690,443 Y210* probably null Het
Gm5155 T A 7: 17,905,116 noncoding transcript Het
Gpnmb T C 6: 49,055,681 V513A probably benign Het
Isca1 T C 13: 59,758,971 T54A probably benign Het
L3mbtl1 T C 2: 162,970,180 V715A probably benign Het
Lama1 G A 17: 67,738,870 D257N probably damaging Het
Lgr5 T C 10: 115,478,534 H166R probably damaging Het
M6pr A G 6: 122,312,259 R9G probably benign Het
Olfr1076 G A 2: 86,509,169 A237T possibly damaging Het
Pank4 T C 4: 154,974,646 M412T probably damaging Het
Psd A G 19: 46,314,747 V100A possibly damaging Het
Rab11fip3 T C 17: 26,016,113 T28A probably damaging Het
Rnpepl1 A T 1: 92,919,746 D685V probably benign Het
Rrad T C 8: 104,630,651 E88G probably benign Het
Sdk2 T A 11: 113,843,080 M846L probably benign Het
Sparcl1 A T 5: 104,094,715 V36E possibly damaging Het
Srrm4 C T 5: 116,467,569 E210K unknown Het
Stk25 A T 1: 93,623,423 probably null Het
Tacr3 A T 3: 134,930,049 Y338F probably damaging Het
Tap2 A T 17: 34,209,210 Q286L probably benign Het
Tbce A T 13: 14,009,740 probably benign Het
Tubgcp5 C A 7: 55,808,529 A396E possibly damaging Het
Ube2o T C 11: 116,540,134 D980G probably damaging Het
Vmn1r86 T C 7: 13,102,506 M98V probably benign Het
Vmn2r58 T A 7: 41,864,511 H236L probably benign Het
Zfp521 T C 18: 13,817,246 H1217R probably damaging Het
Zfyve1 A T 12: 83,555,005 F110I probably benign Het
Other mutations in Irx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Irx4 APN 13 73268691 missense probably benign
IGL00979:Irx4 APN 13 73268222 splice site probably benign
IGL02054:Irx4 APN 13 73268828 missense probably damaging 1.00
IGL02631:Irx4 APN 13 73268477 missense probably damaging 1.00
IGL02893:Irx4 APN 13 73268778 missense probably damaging 1.00
IGL03310:Irx4 APN 13 73267731 missense possibly damaging 0.47
ANU05:Irx4 UTSW 13 73267667 missense probably damaging 1.00
R0468:Irx4 UTSW 13 73266720 splice site probably benign
R0502:Irx4 UTSW 13 73266584 splice site probably null
R0503:Irx4 UTSW 13 73266584 splice site probably null
R1468:Irx4 UTSW 13 73265576 missense possibly damaging 0.53
R1468:Irx4 UTSW 13 73265576 missense possibly damaging 0.53
R1710:Irx4 UTSW 13 73267638 missense possibly damaging 0.90
R1733:Irx4 UTSW 13 73266705 missense probably benign 0.00
R2076:Irx4 UTSW 13 73268265 missense probably damaging 1.00
R2092:Irx4 UTSW 13 73265486 missense probably damaging 0.97
R2127:Irx4 UTSW 13 73265476 missense probably benign 0.03
R2199:Irx4 UTSW 13 73265601 missense probably benign 0.16
R4157:Irx4 UTSW 13 73265543 missense probably benign 0.00
R4883:Irx4 UTSW 13 73267631 missense probably damaging 1.00
R4930:Irx4 UTSW 13 73268913 missense probably benign 0.00
R4990:Irx4 UTSW 13 73265507 missense probably benign 0.28
R4991:Irx4 UTSW 13 73265507 missense probably benign 0.28
R5119:Irx4 UTSW 13 73268921 missense probably benign
R5399:Irx4 UTSW 13 73265539 missense probably benign 0.01
R5596:Irx4 UTSW 13 73267680 missense probably damaging 1.00
R5956:Irx4 UTSW 13 73267507 nonsense probably null
R6271:Irx4 UTSW 13 73266594 critical splice acceptor site probably null
R6383:Irx4 UTSW 13 73267713 missense possibly damaging 0.92
R6630:Irx4 UTSW 13 73268426 missense probably benign 0.00
R6631:Irx4 UTSW 13 73268426 missense probably benign 0.00
R6632:Irx4 UTSW 13 73268426 missense probably benign 0.00
R6633:Irx4 UTSW 13 73268426 missense probably benign 0.00
R7378:Irx4 UTSW 13 73267553 missense possibly damaging 0.52
Posted On2013-10-07