Incidental Mutation 'R6776:Irx3'
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ID531298
Institutional Source Beutler Lab
Gene Symbol Irx3
Ensembl Gene ENSMUSG00000031734
Gene NameIroquois related homeobox 3
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6776 (G1)
Quality Score83.0076
Status Not validated
Chromosome8
Chromosomal Location91798525-91802067 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 91799835 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 414 (T414S)
Ref Sequence ENSEMBL: ENSMUSP00000135488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093312] [ENSMUST00000175795]
Predicted Effect probably benign
Transcript: ENSMUST00000093312
AA Change: T414S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000091002
Gene: ENSMUSG00000031734
AA Change: T414S

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 probably benign
Transcript: ENSMUST00000175795
AA Change: T414S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000135488
Gene: ENSMUSG00000031734
AA Change: T414S

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500015O10Rik C A 1: 43,742,391 N144K probably damaging Het
2900011O08Rik T A 16: 13,986,806 S6T possibly damaging Het
Abhd13 A G 8: 9,988,075 H224R probably benign Het
Anapc10 T C 8: 79,719,745 F68S probably damaging Het
Arid2 A G 15: 96,370,949 N981S probably benign Het
BC055324 T C 1: 163,976,749 I338M probably damaging Het
Cfap73 A G 5: 120,634,211 F9L probably damaging Het
Chd3 A C 11: 69,354,470 L1141V probably damaging Het
Daam1 C T 12: 71,989,808 L1052F possibly damaging Het
Dmxl1 C T 18: 49,893,974 R2050C probably damaging Het
Dpp10 G A 1: 123,367,656 Q552* probably null Het
Dysf A G 6: 84,064,894 D160G possibly damaging Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,075,965 probably benign Het
Ftcd T C 10: 76,589,239 I518T probably benign Het
Gapdh A G 6: 125,162,273 S248P probably damaging Het
Gm5592 C G 7: 41,289,729 P812A probably damaging Het
Grik2 G A 10: 49,355,989 L482F probably damaging Het
Gzmg C T 14: 56,156,831 G202D probably damaging Het
Hectd4 G A 5: 121,353,511 A3671T possibly damaging Het
Hexa G T 9: 59,558,072 W203C probably damaging Het
Igdcc4 A T 9: 65,135,418 T1217S probably benign Het
Ipo7 A G 7: 110,047,065 D557G probably damaging Het
Jakmip1 G A 5: 37,187,154 E1313K probably damaging Het
Kbtbd12 T C 6: 88,618,266 D194G probably damaging Het
Klk6 T C 7: 43,826,874 L46P probably damaging Het
Krt86 T C 15: 101,476,936 I329T probably benign Het
Mroh5 A G 15: 73,789,968 probably null Het
Mtrf1 T C 14: 79,413,081 V323A probably damaging Het
Oas3 A T 5: 120,758,874 I894N probably damaging Het
Oplah C T 15: 76,300,853 V887I possibly damaging Het
Pag1 T C 3: 9,699,788 T102A probably benign Het
Pcnx C T 12: 81,962,722 A1181V possibly damaging Het
Pkdrej G T 15: 85,817,309 Y1475* probably null Het
Pla2g5 A G 4: 138,800,653 S101P probably benign Het
Plekha4 C A 7: 45,534,817 A76E probably damaging Het
Plk2 T C 13: 110,399,791 I592T probably benign Het
Ppp2r3a A T 9: 101,212,862 H87Q probably benign Het
Ppp2r3c T A 12: 55,298,467 R79* probably null Het
Prpf40b C T 15: 99,314,903 R627W probably damaging Het
Prrt4 G T 6: 29,176,552 T258K possibly damaging Het
Rhpn2 T A 7: 35,383,769 probably null Het
Slc11a1 T A 1: 74,384,085 I365N probably damaging Het
Slc7a7 C T 14: 54,374,651 G265D possibly damaging Het
Thsd7a T A 6: 12,555,637 T83S possibly damaging Het
Tln2 A G 9: 67,262,905 S1989P probably damaging Het
Tnfaip3 T G 10: 19,005,576 T321P probably benign Het
Tnrc6b C T 15: 80,924,119 P1623L possibly damaging Het
Trpa1 T C 1: 14,912,377 N85S probably benign Het
Trrap C T 5: 144,851,256 R3544* probably null Het
Ttf2 A T 3: 100,952,553 V695E probably benign Het
Ttll4 A G 1: 74,681,353 E509G probably damaging Het
Vdr T C 15: 97,869,828 I94V probably damaging Het
Wdfy3 G T 5: 101,884,045 Q2304K possibly damaging Het
Zfp663 T C 2: 165,359,015 Y33C probably damaging Het
Other mutations in Irx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0058:Irx3 UTSW 8 91800540 missense possibly damaging 0.88
R0080:Irx3 UTSW 8 91800326 missense possibly damaging 0.94
R0402:Irx3 UTSW 8 91800668 missense possibly damaging 0.77
R0418:Irx3 UTSW 8 91800080 missense probably benign 0.00
R0609:Irx3 UTSW 8 91801093 missense probably benign 0.18
R0709:Irx3 UTSW 8 91799420 missense possibly damaging 0.94
R1753:Irx3 UTSW 8 91800734 missense probably damaging 0.98
R3406:Irx3 UTSW 8 91798927 missense unknown
R5472:Irx3 UTSW 8 91799480 splice site probably null
R5790:Irx3 UTSW 8 91799676 missense probably benign
R5896:Irx3 UTSW 8 91801135 missense probably benign
R6611:Irx3 UTSW 8 91800003 missense probably damaging 0.97
R6861:Irx3 UTSW 8 91798902 utr 3 prime probably benign
R6978:Irx3 UTSW 8 91800728 missense probably damaging 0.99
R7472:Irx3 UTSW 8 91799997 missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- TCCCTTTAGTCTAGGCGAGAG -3'
(R):5'- AGCCCAAGATCTGGTCACTG -3'

Sequencing Primer
(F):5'- ACACCCTCCCACTGTGC -3'
(R):5'- AAGATCTGGTCACTGGCCGAG -3'
Posted On2018-08-29