Incidental Mutation 'R0468:Irx4'
ID 41766
Institutional Source Beutler Lab
Gene Symbol Irx4
Ensembl Gene ENSMUSG00000021604
Gene Name Iroquois homeobox 4
Synonyms
MMRRC Submission 038668-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.895) question?
Stock # R0468 (G1)
Quality Score 166
Status Validated
Chromosome 13
Chromosomal Location 73408598-73417727 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 73414839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022095] [ENSMUST00000176684]
AlphaFold Q9QY61
Predicted Effect probably benign
Transcript: ENSMUST00000022095
SMART Domains Protein: ENSMUSP00000022095
Gene: ENSMUSG00000021604

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
SMART Domains Protein: ENSMUSP00000134738
Gene: ENSMUSG00000021604

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 100% (61/61)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,240,084 (GRCm39) H1298R possibly damaging Het
5530400C23Rik T C 6: 133,271,421 (GRCm39) L155P probably benign Het
6820408C15Rik A T 2: 152,283,186 (GRCm39) R283S probably benign Het
Aldh1l2 T A 10: 83,354,542 (GRCm39) E104D probably benign Het
Anxa3 T C 5: 96,958,958 (GRCm39) V22A probably benign Het
Bcl7b T C 5: 135,209,737 (GRCm39) F188L probably benign Het
Brinp1 T A 4: 68,681,013 (GRCm39) I506F probably damaging Het
Bsdc1 T C 4: 129,355,511 (GRCm39) probably benign Het
Ccdc180 T C 4: 45,923,271 (GRCm39) I1075T possibly damaging Het
Cep162 A G 9: 87,075,750 (GRCm39) L1294P probably damaging Het
Cltc G A 11: 86,595,452 (GRCm39) probably benign Het
Col11a1 T C 3: 114,010,707 (GRCm39) probably benign Het
Col14a1 A T 15: 55,252,042 (GRCm39) Y566F unknown Het
Dhx29 A G 13: 113,099,811 (GRCm39) Q1148R probably benign Het
Ehbp1 A G 11: 22,119,184 (GRCm39) probably benign Het
Ehd3 A G 17: 74,112,374 (GRCm39) H46R probably damaging Het
Fam171a1 T C 2: 3,226,433 (GRCm39) V522A probably benign Het
Gm4553 C A 7: 141,719,362 (GRCm39) C22F unknown Het
Hibadh C T 6: 52,534,755 (GRCm39) probably benign Het
Hspg2 G A 4: 137,260,840 (GRCm39) C1613Y probably damaging Het
Hydin G T 8: 111,139,855 (GRCm39) C708F possibly damaging Het
Ifi208 A T 1: 173,511,047 (GRCm39) M401L probably benign Het
Igsf8 G A 1: 172,146,363 (GRCm39) V454M probably damaging Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Kcnn2 C T 18: 45,692,538 (GRCm39) T38M possibly damaging Het
L3mbtl3 C T 10: 26,203,630 (GRCm39) R400H unknown Het
Lrp6 T C 6: 134,462,624 (GRCm39) T679A possibly damaging Het
Map9 T C 3: 82,281,510 (GRCm39) probably null Het
Men1 T A 19: 6,386,953 (GRCm39) V5E probably null Het
Mettl14 T C 3: 123,165,061 (GRCm39) D93G probably damaging Het
Neb G T 2: 52,101,568 (GRCm39) R4601S probably damaging Het
Nell1 A G 7: 49,878,594 (GRCm39) T272A probably damaging Het
Or10ag53 A T 2: 87,082,599 (GRCm39) N106I probably benign Het
Or2ak6 A T 11: 58,592,619 (GRCm39) I31F probably damaging Het
Pclo C A 5: 14,727,302 (GRCm39) probably benign Het
Pdia5 A G 16: 35,217,877 (GRCm39) L502P probably damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Plxna4 C A 6: 32,192,181 (GRCm39) C803F probably damaging Het
Pmfbp1 A G 8: 110,240,600 (GRCm39) probably null Het
Ptgs1 A G 2: 36,139,205 (GRCm39) Y468C probably damaging Het
Pxdn G T 12: 30,044,485 (GRCm39) G488W probably damaging Het
Safb C T 17: 56,913,025 (GRCm39) R914C probably damaging Het
Sec31b T A 19: 44,506,947 (GRCm39) probably benign Het
Shank3 G A 15: 89,433,478 (GRCm39) V1333I probably benign Het
Slamf1 A G 1: 171,619,939 (GRCm39) probably benign Het
Slc23a3 T A 1: 75,109,874 (GRCm39) Q131L possibly damaging Het
Slc7a11 A G 3: 50,338,500 (GRCm39) V303A probably damaging Het
Slc7a13 T A 4: 19,841,500 (GRCm39) V449D probably benign Het
Srp68 A T 11: 116,139,590 (GRCm39) I453K probably damaging Het
Steap3 A T 1: 120,162,030 (GRCm39) V414D probably damaging Het
Tagln2 A G 1: 172,333,788 (GRCm39) N131D probably benign Het
Tmem132d T C 5: 128,346,267 (GRCm39) Y85C probably damaging Het
Vcam1 A T 3: 115,909,595 (GRCm39) Y577* probably null Het
Vmn1r214 A G 13: 23,219,423 (GRCm39) T306A probably benign Het
Zfyve1 A T 12: 83,602,048 (GRCm39) probably benign Het
Zgrf1 T A 3: 127,355,690 (GRCm39) N305K 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
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'- AACTGAGCGTTGTGTGAGTCCAGG -3'
(R):5'- CTCCTTAATTCCCACCGTAAGGCTG -3'

Sequencing Primer
(F):5'- CCCTAAGATAGCTCATTGGGTAG -3'
(R):5'- TTGAGGGAATTGTCCCCTCT -3'
Posted On 2013-05-23