Incidental Mutation 'R0402:Irx3'
ID 35624
Institutional Source Beutler Lab
Gene Symbol Irx3
Ensembl Gene ENSMUSG00000031734
Gene Name Iroquois related homeobox 3
Synonyms
MMRRC Submission 038607-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0402 (G1)
Quality Score 137
Status Validated
Chromosome 8
Chromosomal Location 92525139-92528282 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92527296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 136 (N136S)
Ref Sequence ENSEMBL: ENSMUSP00000135488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093312] [ENSMUST00000175795]
AlphaFold P81067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000062522
Predicted Effect possibly damaging
Transcript: ENSMUST00000093312
AA Change: N136S

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000091002
Gene: ENSMUSG00000031734
AA Change: N136S

DomainStartEndE-ValueType
low complexity region 19 52 N/A INTRINSIC
low complexity region 59 78 N/A INTRINSIC
low complexity region 106 123 N/A INTRINSIC
HOX 131 195 3.47e-12 SMART
coiled coil region 210 244 N/A INTRINSIC
low complexity region 294 300 N/A INTRINSIC
IRO 345 362 2.66e-6 SMART
low complexity region 365 384 N/A INTRINSIC
low complexity region 416 429 N/A INTRINSIC
low complexity region 436 461 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133337
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133528
Predicted Effect possibly damaging
Transcript: ENSMUST00000175795
AA Change: N136S

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135488
Gene: ENSMUSG00000031734
AA Change: N136S

DomainStartEndE-ValueType
low complexity region 19 52 N/A INTRINSIC
low complexity region 59 78 N/A INTRINSIC
low complexity region 106 123 N/A INTRINSIC
HOX 131 195 3.47e-12 SMART
coiled coil region 210 244 N/A INTRINSIC
low complexity region 294 300 N/A INTRINSIC
IRO 345 362 2.66e-6 SMART
low complexity region 365 384 N/A INTRINSIC
low complexity region 416 429 N/A INTRINSIC
low complexity region 436 461 N/A INTRINSIC
low complexity region 495 507 N/A INTRINSIC
Meta Mutation Damage Score 0.0840 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.0%
  • 10x: 94.5%
  • 20x: 88.7%
Validation Efficiency 100% (74/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IRX3 is a member of the Iroquois homeobox gene family (see IRX1; MIM 606197) and plays a role in an early step of neural development (Bellefroid et al., 1998 [PubMed 9427753]). Members of this family appear to play multiple roles during pattern formation of vertebrate embryos (Lewis et al., 1999 [PubMed 10370142]).[supplied by OMIM, Aug 2009]
PHENOTYPE: Mice homozygous for a null allele display right bundle branch block, decreased body weight, increased energy expenditure, reduced adiposity and decreased susceptibility to diet induced obesity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A T 10: 100,445,115 (GRCm39) K165N probably damaging Het
Adam6b T A 12: 113,453,615 (GRCm39) M144K probably damaging Het
Arhgap44 T C 11: 64,922,903 (GRCm39) probably benign Het
Arl5c T A 11: 97,885,939 (GRCm39) I21F probably damaging Het
Bglap2 C T 3: 88,285,552 (GRCm39) G40D probably damaging Het
Bptf T C 11: 106,964,940 (GRCm39) E1303G probably damaging Het
Calhm1 T C 19: 47,129,896 (GRCm39) T209A probably damaging Het
Ccr8 A G 9: 119,923,976 (GRCm39) probably null Het
Chkb C T 15: 89,313,610 (GRCm39) R65Q probably benign Het
Col4a1 T C 8: 11,249,838 (GRCm39) probably benign Het
Cryzl2 A G 1: 157,292,014 (GRCm39) T98A probably benign Het
D430041D05Rik T C 2: 103,998,509 (GRCm39) T1080A probably damaging Het
Dhx8 C A 11: 101,643,223 (GRCm39) T765N probably damaging Het
Dicer1 T C 12: 104,697,323 (GRCm39) D78G probably benign Het
Drd2 A G 9: 49,316,271 (GRCm39) I344V probably benign Het
Edil3 A T 13: 89,347,570 (GRCm39) probably benign Het
Fbxw19 C T 9: 109,313,493 (GRCm39) G235D probably benign Het
Fzd1 T C 5: 4,805,702 (GRCm39) K627E possibly damaging Het
Garin1b A G 6: 29,323,901 (GRCm39) T209A probably benign Het
Garin4 T C 1: 190,896,637 (GRCm39) D2G probably benign Het
Gm10638 A G 8: 87,472,828 (GRCm39) probably benign Het
H6pd G T 4: 150,080,773 (GRCm39) A24E probably damaging Het
Hectd2 G T 19: 36,578,929 (GRCm39) probably null Het
Hps5 A G 7: 46,440,333 (GRCm39) probably benign Het
Kcmf1 T C 6: 72,826,568 (GRCm39) M1V probably null Het
Klrb1 A T 6: 128,687,583 (GRCm39) F104I probably benign Het
Lrfn5 T C 12: 61,886,803 (GRCm39) M197T probably benign Het
Mpdz A C 4: 81,279,677 (GRCm39) M51R possibly damaging Het
Mtbp G T 15: 55,432,466 (GRCm39) E258* probably null Het
Mylk3 T A 8: 86,079,539 (GRCm39) H373L probably damaging Het
Myrfl A G 10: 116,664,882 (GRCm39) S383P probably damaging Het
Nt5c T C 11: 115,381,468 (GRCm39) *195W probably null Het
Ocstamp A G 2: 165,238,184 (GRCm39) V360A possibly damaging Het
Or10ak16 A T 4: 118,750,426 (GRCm39) I49F possibly damaging Het
Or10al6 T A 17: 38,083,284 (GRCm39) C247S probably damaging Het
Or4k35 A G 2: 111,100,208 (GRCm39) F168S probably damaging Het
Or4p19 A T 2: 88,242,378 (GRCm39) V208D probably damaging Het
Or5an9 A G 19: 12,186,953 (GRCm39) T8A probably damaging Het
Otop2 T C 11: 115,217,234 (GRCm39) probably benign Het
Pom121l2 A T 13: 22,172,649 (GRCm39) probably benign Het
Pon2 T A 6: 5,272,410 (GRCm39) K137* probably null Het
Ppip5k2 T A 1: 97,647,579 (GRCm39) Q1049L probably benign Het
Ralgapa2 C T 2: 146,276,729 (GRCm39) V504M probably damaging Het
Rph3a G A 5: 121,080,317 (GRCm39) H654Y probably damaging Het
Sh2d1b1 T C 1: 170,107,342 (GRCm39) probably benign Het
Slc15a2 G A 16: 36,595,960 (GRCm39) T154I probably benign Het
Slc45a3 T C 1: 131,905,265 (GRCm39) V96A possibly damaging Het
Slc7a4 A G 16: 17,393,497 (GRCm39) S101P probably damaging Het
Smco2 T C 6: 146,772,633 (GRCm39) probably benign Het
Spata2 A T 2: 167,325,580 (GRCm39) V413E probably benign Het
Specc1l A G 10: 75,082,260 (GRCm39) E552G probably damaging Het
Sstr5 C T 17: 25,711,008 (GRCm39) V74M probably benign Het
Timm50 G A 7: 28,006,280 (GRCm39) R274W probably damaging Het
Tll2 A G 19: 41,087,132 (GRCm39) V573A possibly damaging Het
Tm7sf3 C A 6: 146,507,685 (GRCm39) R459M possibly damaging Het
Txk A G 5: 72,889,105 (GRCm39) probably null Het
Uroc1 A G 6: 90,324,284 (GRCm39) D436G probably damaging Het
Vmn1r13 T A 6: 57,187,083 (GRCm39) Y81N possibly damaging Het
Vmn2r19 A G 6: 123,313,141 (GRCm39) E737G probably damaging Het
Wfs1 A G 5: 37,134,324 (GRCm39) probably benign Het
Zfp1 G A 8: 112,396,875 (GRCm39) E285K probably damaging Het
Zfp1005 T A 2: 150,111,136 (GRCm39) C609S possibly damaging Het
Zfp661 G A 2: 127,419,640 (GRCm39) Q167* probably null Het
Zswim8 T C 14: 20,760,834 (GRCm39) F36S probably damaging Het
Zw10 A G 9: 48,980,023 (GRCm39) T385A probably benign Het
Other mutations in Irx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0058:Irx3 UTSW 8 92,527,168 (GRCm39) missense possibly damaging 0.88
R0080:Irx3 UTSW 8 92,526,954 (GRCm39) missense possibly damaging 0.94
R0418:Irx3 UTSW 8 92,526,708 (GRCm39) missense probably benign 0.00
R0609:Irx3 UTSW 8 92,527,721 (GRCm39) missense probably benign 0.18
R0709:Irx3 UTSW 8 92,526,048 (GRCm39) missense possibly damaging 0.94
R1753:Irx3 UTSW 8 92,527,362 (GRCm39) missense probably damaging 0.98
R3406:Irx3 UTSW 8 92,525,555 (GRCm39) missense unknown
R5472:Irx3 UTSW 8 92,526,108 (GRCm39) splice site probably null
R5790:Irx3 UTSW 8 92,526,304 (GRCm39) missense probably benign
R5896:Irx3 UTSW 8 92,527,763 (GRCm39) missense probably benign
R6611:Irx3 UTSW 8 92,526,631 (GRCm39) missense probably damaging 0.97
R6776:Irx3 UTSW 8 92,526,463 (GRCm39) missense probably benign 0.00
R6861:Irx3 UTSW 8 92,525,530 (GRCm39) utr 3 prime probably benign
R6978:Irx3 UTSW 8 92,527,356 (GRCm39) missense probably damaging 0.99
R7472:Irx3 UTSW 8 92,526,625 (GRCm39) missense probably benign 0.25
R8304:Irx3 UTSW 8 92,526,834 (GRCm39) missense probably damaging 1.00
R8412:Irx3 UTSW 8 92,527,028 (GRCm39) missense possibly damaging 0.92
R8906:Irx3 UTSW 8 92,526,915 (GRCm39) missense possibly damaging 0.94
R9157:Irx3 UTSW 8 92,527,694 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCCGCGCTGTCTAAGTTTTCCAAATC -3'
(R):5'- TTTCATCAGTGTACGGGGCACCCTAC -3'

Sequencing Primer
(F):5'- ctcctcctcctccatctcc -3'
(R):5'- ccgccgcTCAGGGTTAC -3'
Posted On 2013-05-09