Incidental Mutation 'R5596:Irx4'
ID 437843
Institutional Source Beutler Lab
Gene Symbol Irx4
Ensembl Gene ENSMUSG00000021604
Gene Name Iroquois homeobox 4
Synonyms
MMRRC Submission 043148-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.895) question?
Stock # R5596 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 73408598-73417727 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73415799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 196 (N196S)
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: N196S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022095
Gene: ENSMUSG00000021604
AA Change: N196S

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: N196S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134738
Gene: ENSMUSG00000021604
AA Change: N196S

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
Meta Mutation Damage Score 0.9584 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.9%
Validation Efficiency 100% (40/40)
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
Abca15 A G 7: 120,000,972 (GRCm39) M1503V possibly damaging Het
Abraxas1 A T 5: 100,966,403 (GRCm39) V53D probably damaging Het
Bub1b T C 2: 118,461,463 (GRCm39) S672P probably damaging Het
C1qtnf7 A T 5: 43,673,313 (GRCm39) probably benign Het
Cacng7 A T 7: 3,415,420 (GRCm39) I262F probably benign Het
Capzb T G 4: 139,006,738 (GRCm39) probably benign Het
Ccdc149 A G 5: 52,561,493 (GRCm39) V229A probably damaging Het
Cfap69 A G 5: 5,676,020 (GRCm39) L225P probably damaging Het
Cftr A G 6: 18,268,095 (GRCm39) T685A probably benign Het
Col12a1 G A 9: 79,611,041 (GRCm39) T177M probably damaging Het
Creb3l3 T G 10: 80,920,881 (GRCm39) D383A probably benign Het
Cyp2j8 T A 4: 96,395,578 (GRCm39) I16F probably benign Het
Dnah5 G T 15: 28,343,754 (GRCm39) A2385S probably damaging Het
Enox1 A G 14: 77,816,493 (GRCm39) I158V probably benign Het
Erich3 A T 3: 154,433,033 (GRCm39) T139S probably damaging Het
Fam186b A T 15: 99,169,170 (GRCm39) S926T possibly damaging Het
Gjd2 C A 2: 113,841,965 (GRCm39) V171F possibly damaging Het
Helz2 A T 2: 180,879,082 (GRCm39) probably benign Het
Herc1 T TTN 9: 66,341,345 (GRCm39) probably benign Het
Impg1 A T 9: 80,252,500 (GRCm39) V483E probably benign Het
Kcnip1 T C 11: 33,580,597 (GRCm39) D213G probably damaging Het
Lmntd1 T A 6: 145,359,140 (GRCm39) T191S probably benign Het
Med12l T A 3: 59,159,771 (GRCm39) N1273K probably benign Het
Musk T C 4: 58,373,036 (GRCm39) C654R probably damaging Het
Nlrp4d A T 7: 10,115,951 (GRCm39) S274T noncoding transcript Het
Omd A G 13: 49,745,814 (GRCm39) H408R probably benign Het
Pbld2 C T 10: 62,907,791 (GRCm39) A219V probably damaging Het
Pramel22 T A 4: 143,381,025 (GRCm39) T333S probably damaging Het
Pramel32 C T 4: 88,548,292 (GRCm39) E38K probably damaging Het
Ptpn1 T C 2: 167,816,683 (GRCm39) I246T probably damaging Het
Sap18b G T 8: 96,551,998 (GRCm39) A3S unknown Het
Sptbn5 G A 2: 119,876,965 (GRCm39) probably benign Het
Sstr4 G T 2: 148,237,652 (GRCm39) V88F possibly damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tmcc2 T C 1: 132,288,221 (GRCm39) N489D probably damaging Het
Tnfrsf9 T C 4: 151,014,331 (GRCm39) V10A probably benign Het
Tnxb T A 17: 34,907,778 (GRCm39) V1274E probably damaging Het
Ube3b T A 5: 114,544,221 (GRCm39) probably null Het
Vwa5a A T 9: 38,633,874 (GRCm39) I26F probably damaging 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
ANU05:Irx4 UTSW 13 73,415,786 (GRCm39) missense probably damaging 1.00
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
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'- ATTGCAGAGCCTGTCTCCAG -3'
(R):5'- GTAAACCAGTCCACCAGTCTG -3'

Sequencing Primer
(F):5'- AGCACCGGAAGAACCCGTA -3'
(R):5'- GAGACACCCCATACTTTTCAGG -3'
Posted On 2016-10-26