Incidental Mutation 'ANU05:Irx4'
ID 262512
Institutional Source Beutler Lab
Gene Symbol Irx4
Ensembl Gene ENSMUSG00000021604
Gene Name Iroquois homeobox 4
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.895) question?
Stock # ANU05
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 73408598-73417727 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73415786 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9QY61
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
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Acaca A G 11: 84,206,678 (GRCm39) K1513E probably damaging Het
Acacb T A 5: 114,363,931 (GRCm39) F1464Y probably benign Het
Adgrg6 G A 10: 14,286,274 (GRCm39) A1114V possibly damaging Het
Agl A G 3: 116,566,438 (GRCm39) I975T possibly damaging Het
Akap7 T C 10: 25,147,451 (GRCm39) H93R probably damaging Het
Arhgef11 T C 3: 87,640,481 (GRCm39) W1213R probably benign Het
Ccar1 T A 10: 62,592,428 (GRCm39) E708V probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cilp T C 9: 65,186,265 (GRCm39) S787P possibly damaging Het
Col6a3 G A 1: 90,730,014 (GRCm39) T1157I probably damaging Het
D630003M21Rik T C 2: 158,038,308 (GRCm39) Y1046C probably benign Het
Dock3 A G 9: 106,772,862 (GRCm39) S464P probably benign Het
Dusp19 A G 2: 80,454,618 (GRCm39) T113A probably benign Het
Dync1h1 A C 12: 110,615,538 (GRCm39) Y2957S probably benign Het
Epdr1 T C 13: 19,778,814 (GRCm39) Y94C probably damaging Het
Fcho1 A T 8: 72,165,191 (GRCm39) L422Q probably benign Het
Gca T A 2: 62,520,787 (GRCm39) Y210* probably null Het
Gpnmb T C 6: 49,032,615 (GRCm39) V513A probably benign Het
Isca1 T C 13: 59,906,785 (GRCm39) T54A probably benign Het
Kif12 GGGGC GGGGCCTCCACCCGGCGGGC 4: 63,089,660 (GRCm39) probably benign Het
L3mbtl1 T C 2: 162,812,100 (GRCm39) V715A probably benign Het
Lama1 G A 17: 68,045,865 (GRCm39) D257N probably damaging Het
Lgr5 T C 10: 115,314,439 (GRCm39) H166R probably damaging Het
M6pr A G 6: 122,289,218 (GRCm39) R9G probably benign Het
Nmt2 T G 2: 3,315,731 (GRCm39) S240R probably benign Het
Npas3 A G 12: 54,114,857 (GRCm39) E593G possibly damaging Het
Or8k30 G A 2: 86,339,513 (GRCm39) A237T possibly damaging Het
Pank4 T C 4: 155,059,103 (GRCm39) M412T probably damaging Het
Psd A G 19: 46,303,186 (GRCm39) V100A possibly damaging Het
Rab11fip3 T C 17: 26,235,087 (GRCm39) T28A probably damaging Het
Rnpepl1 A T 1: 92,847,468 (GRCm39) D685V probably benign Het
Rrad T C 8: 105,357,283 (GRCm39) E88G probably benign Het
Sdk2 T A 11: 113,733,906 (GRCm39) M846L probably benign Het
Sparcl1 A T 5: 104,242,581 (GRCm39) V36E possibly damaging Het
Spmip5 A T 19: 58,777,545 (GRCm39) H80Q probably damaging Het
Srrm4 C T 5: 116,605,628 (GRCm39) E210K unknown Het
Stk25 A T 1: 93,551,145 (GRCm39) probably null Het
Tacr3 A T 3: 134,635,810 (GRCm39) Y338F probably damaging Het
Tap2 A T 17: 34,428,184 (GRCm39) Q286L probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tubgcp5 C A 7: 55,458,277 (GRCm39) A396E possibly damaging Het
Ube2o T C 11: 116,430,960 (GRCm39) D980G probably damaging Het
Vmn1r86 T C 7: 12,836,433 (GRCm39) M98V probably benign Het
Vmn2r58 T A 7: 41,513,935 (GRCm39) H236L probably benign Het
Zfp521 T C 18: 13,950,303 (GRCm39) H1217R probably damaging Het
Zfyve1 A T 12: 83,601,779 (GRCm39) F110I probably benign Het
Other mutations in Irx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Irx4 APN 13 73,416,810 (GRCm39) missense probably benign
IGL00979:Irx4 APN 13 73,416,341 (GRCm39) splice site probably benign
IGL01291:Irx4 APN 13 73,415,786 (GRCm39) missense probably damaging 1.00
IGL02054:Irx4 APN 13 73,416,947 (GRCm39) missense probably damaging 1.00
IGL02631:Irx4 APN 13 73,416,596 (GRCm39) missense probably damaging 1.00
IGL02893:Irx4 APN 13 73,416,897 (GRCm39) missense probably damaging 1.00
IGL03310:Irx4 APN 13 73,415,850 (GRCm39) missense possibly damaging 0.47
R0468:Irx4 UTSW 13 73,414,839 (GRCm39) splice site probably benign
R0502:Irx4 UTSW 13 73,414,703 (GRCm39) splice site probably null
R0503:Irx4 UTSW 13 73,414,703 (GRCm39) splice site probably null
R1468:Irx4 UTSW 13 73,413,695 (GRCm39) missense possibly damaging 0.53
R1468:Irx4 UTSW 13 73,413,695 (GRCm39) missense possibly damaging 0.53
R1710:Irx4 UTSW 13 73,415,757 (GRCm39) missense possibly damaging 0.90
R1733:Irx4 UTSW 13 73,414,824 (GRCm39) missense probably benign 0.00
R2076:Irx4 UTSW 13 73,416,384 (GRCm39) missense probably damaging 1.00
R2092:Irx4 UTSW 13 73,413,605 (GRCm39) missense probably damaging 0.97
R2127:Irx4 UTSW 13 73,413,595 (GRCm39) missense probably benign 0.03
R2199:Irx4 UTSW 13 73,413,720 (GRCm39) missense probably benign 0.16
R4157:Irx4 UTSW 13 73,413,662 (GRCm39) missense probably benign 0.00
R4883:Irx4 UTSW 13 73,415,750 (GRCm39) missense probably damaging 1.00
R4930:Irx4 UTSW 13 73,417,032 (GRCm39) missense probably benign 0.00
R4990:Irx4 UTSW 13 73,413,626 (GRCm39) missense probably benign 0.28
R4991:Irx4 UTSW 13 73,413,626 (GRCm39) missense probably benign 0.28
R5119:Irx4 UTSW 13 73,417,040 (GRCm39) missense probably benign
R5399:Irx4 UTSW 13 73,413,658 (GRCm39) missense probably benign 0.01
R5596:Irx4 UTSW 13 73,415,799 (GRCm39) missense probably damaging 1.00
R5956:Irx4 UTSW 13 73,415,626 (GRCm39) nonsense probably null
R6271:Irx4 UTSW 13 73,414,713 (GRCm39) critical splice acceptor site probably null
R6383:Irx4 UTSW 13 73,415,832 (GRCm39) missense possibly damaging 0.92
R6630:Irx4 UTSW 13 73,416,545 (GRCm39) missense probably benign 0.00
R6631:Irx4 UTSW 13 73,416,545 (GRCm39) missense probably benign 0.00
R6632:Irx4 UTSW 13 73,416,545 (GRCm39) missense probably benign 0.00
R6633:Irx4 UTSW 13 73,416,545 (GRCm39) missense probably benign 0.00
R7378:Irx4 UTSW 13 73,415,672 (GRCm39) missense possibly damaging 0.52
R9204:Irx4 UTSW 13 73,416,649 (GRCm39) missense probably damaging 1.00
R9207:Irx4 UTSW 13 73,416,649 (GRCm39) missense probably damaging 1.00
R9366:Irx4 UTSW 13 73,417,025 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGGCATCATCTTGGCCCACAAAAG -3'
(R):5'- GTAAACCAGTCCACCAGTCTGCTAC -3'

Sequencing Primer
(F):5'- AGGCACAGCCTGTTCCTATG -3'
(R):5'- GAGACACCCCATACTTTTCAGG -3'
Posted On 2015-02-04