Incidental Mutation 'R4157:Irx4'
ID 315600
Institutional Source Beutler Lab
Gene Symbol Irx4
Ensembl Gene ENSMUSG00000021604
Gene Name Iroquois homeobox 4
Synonyms
MMRRC Submission 041000-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.895) question?
Stock # R4157 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 73408598-73417727 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73413662 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 44 (Q44L)
Ref Sequence ENSEMBL: ENSMUSP00000134738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022095] [ENSMUST00000176684]
AlphaFold Q9QY61
Predicted Effect probably benign
Transcript: ENSMUST00000022095
AA Change: Q44L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000022095
Gene: ENSMUSG00000021604
AA Change: Q44L

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 benign
Transcript: ENSMUST00000176684
AA Change: Q44L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000134738
Gene: ENSMUSG00000021604
AA Change: Q44L

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 0.0768 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 95% (52/55)
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
Adamts7 G T 9: 90,070,414 (GRCm39) R585L probably damaging Het
Adamtsl5 C T 10: 80,181,156 (GRCm39) R75Q probably null Het
Ankrd26 T A 6: 118,484,782 (GRCm39) Q1485L probably damaging Het
Apbb2 G A 5: 66,459,947 (GRCm39) R717* probably null Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Atp8b5 A G 4: 43,365,591 (GRCm39) E735G probably damaging Het
Bcl11b A T 12: 107,883,684 (GRCm39) probably null Het
C4b A G 17: 34,961,829 (GRCm39) I139T probably damaging Het
Ccpg1 C A 9: 72,919,449 (GRCm39) Q355K probably benign Het
Cdk8 A T 5: 146,236,259 (GRCm39) probably benign Het
Ctif T C 18: 75,568,341 (GRCm39) H599R probably benign Het
Degs1 A G 1: 182,110,192 (GRCm39) I26T possibly damaging Het
Dnajc4 T C 19: 6,967,208 (GRCm39) N72S probably damaging Het
Ecd A G 14: 20,374,632 (GRCm39) S503P probably damaging Het
Gm3486 G A 14: 41,208,343 (GRCm39) L123F probably benign Het
Inpp5f C T 7: 128,281,423 (GRCm39) probably benign Het
Krt9 T A 11: 100,079,475 (GRCm39) Y639F unknown Het
Lgals9 C A 11: 78,863,933 (GRCm39) V71L possibly damaging Het
Mdga1 T C 17: 30,052,317 (GRCm39) N143S probably benign Het
Ndufs4 A T 13: 114,444,390 (GRCm39) S129R probably benign Het
Nup50l C G 6: 96,142,264 (GRCm39) W260S possibly damaging Het
Oog2 A G 4: 143,920,523 (GRCm39) probably benign Het
Orm2 T A 4: 63,282,222 (GRCm39) F133L probably null Het
Pasd1 T C X: 70,983,161 (GRCm39) C378R possibly damaging Het
Pidd1 A G 7: 141,021,279 (GRCm39) V333A possibly damaging Het
Ppp4r3a A G 12: 101,021,878 (GRCm39) F341L probably damaging Het
Rab11fip1 A T 8: 27,642,175 (GRCm39) S875T probably damaging Het
Rpap1 C T 2: 119,604,660 (GRCm39) R416H probably damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Snx22 T C 9: 65,975,493 (GRCm39) Y92C probably damaging Het
Srgn A G 10: 62,333,613 (GRCm39) F55L possibly damaging Het
Swt1 A T 1: 151,278,795 (GRCm39) V454E probably damaging Het
Tmem54 G A 4: 129,004,504 (GRCm39) R151Q probably damaging Het
Tns1 T A 1: 73,953,790 (GRCm39) N1848Y probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Top2b A G 14: 16,384,491 (GRCm38) N80S probably benign Het
Trim7 T C 11: 48,738,920 (GRCm39) V313A probably benign Het
Uaca A G 9: 60,779,035 (GRCm39) S1141G probably benign Het
Ubr3 T C 2: 69,790,013 (GRCm39) probably null Het
Utp20 A G 10: 88,597,729 (GRCm39) V121A probably benign Het
Wdr20 G A 12: 110,704,608 (GRCm39) R49H possibly damaging Het
Ylpm1 T C 12: 85,104,177 (GRCm39) probably benign Het
Zfp398 A T 6: 47,812,843 (GRCm39) T5S probably benign Het
Zfp410 G A 12: 84,374,206 (GRCm39) R181H probably damaging Het
Zfp523 C T 17: 28,421,257 (GRCm39) A367V probably benign Het
Zfp748 G A 13: 67,690,225 (GRCm39) S345L possibly 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
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'- TGTCATAGGTAGCAGGAGGC -3'
(R):5'- GCGGAAGTACACTTAGCAAAC -3'

Sequencing Primer
(F):5'- CCCCTAGAGACACGTGAGGTC -3'
(R):5'- GTATTTGTCCCCTTACCAGAGAGTAG -3'
Posted On 2015-05-14