Incidental Mutation 'R4860:Pax3'
ID 372372
Institutional Source Beutler Lab
Gene Symbol Pax3
Ensembl Gene ENSMUSG00000004872
Gene Name paired box 3
Synonyms Pax-3
MMRRC Submission 042471-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.842) question?
Stock # R4860 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 78101267-78197134 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78192456 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 191 (I191T)
Ref Sequence ENSEMBL: ENSMUSP00000004994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004994] [ENSMUST00000087086]
AlphaFold P24610
Predicted Effect possibly damaging
Transcript: ENSMUST00000004994
AA Change: I191T

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000004994
Gene: ENSMUSG00000004872
AA Change: I191T

PAX 34 159 1.99e-91 SMART
low complexity region 164 185 N/A INTRINSIC
HOX 219 281 6.6e-27 SMART
Pfam:Pax7 347 391 5.9e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000087086
AA Change: I191T

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000084320
Gene: ENSMUSG00000004872
AA Change: I191T

PAX 34 159 1.99e-91 SMART
low complexity region 164 185 N/A INTRINSIC
HOX 219 281 6.6e-27 SMART
Pfam:Pax7 346 391 5.3e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172555
Meta Mutation Damage Score 0.1123 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 87.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]
PHENOTYPE: Effects on homozygotes for mutations in this gene vary in severity and include embryonic to perinatal death, malformations of neural tube, spinal ganglia, heart, vertebral column, hindbrain and limb musculature. Heterozygotes have white belly spots and variable spotting on the back and extremeties. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T C 8: 72,455,423 (GRCm38) S466P possibly damaging Het
Ablim1 T C 19: 57,079,866 (GRCm38) T267A probably damaging Het
Acap2 A T 16: 31,103,499 (GRCm38) L724Q possibly damaging Het
Acsbg3 A G 17: 56,888,655 (GRCm38) N684S probably benign Het
Adcy4 T C 14: 55,781,927 (GRCm38) T89A possibly damaging Het
Agrp T C 8: 105,567,368 (GRCm38) E41G probably benign Het
Ajm1 T C 2: 25,578,753 (GRCm38) Y382C probably damaging Het
Akr1d1 G A 6: 37,564,491 (GRCm38) V308M probably damaging Het
Ap1m2 C T 9: 21,309,674 (GRCm38) R54Q probably benign Het
Arhgap45 T A 10: 80,027,066 (GRCm38) V692E probably damaging Het
Arid5b G T 10: 68,243,095 (GRCm38) N137K probably damaging Het
Arsi G A 18: 60,916,651 (GRCm38) G202E probably benign Het
BC048679 T C 7: 81,495,720 (GRCm38) N27D probably benign Het
Ccdc78 A G 17: 25,788,700 (GRCm38) N237S probably benign Het
Cd46 G A 1: 195,062,396 (GRCm38) L345F possibly damaging Het
Cngb3 A T 4: 19,425,569 (GRCm38) N459I possibly damaging Het
Ctnnd2 A G 15: 30,881,167 (GRCm38) E731G probably damaging Het
Ctsh A G 9: 90,054,548 (GRCm38) E26G probably benign Het
Cul1 G T 6: 47,517,146 (GRCm38) K464N probably benign Het
Cul1 T A 6: 47,517,191 (GRCm38) S479R probably damaging Het
Dcaf5 A T 12: 80,340,232 (GRCm38) D373E probably benign Het
Dhcr7 A G 7: 143,840,500 (GRCm38) Q126R probably benign Het
Dok2 T C 14: 70,777,516 (GRCm38) F228L probably damaging Het
Dpep3 T G 8: 105,976,189 (GRCm38) I314L probably benign Het
Eps8 A G 6: 137,514,295 (GRCm38) F362L probably damaging Het
Espn G T 4: 152,138,846 (GRCm38) R250S probably damaging Het
Faf1 A C 4: 109,742,896 (GRCm38) N163H probably damaging Het
Fcho1 C T 8: 71,710,481 (GRCm38) V635I probably benign Het
Garin5b C T 7: 4,757,469 (GRCm38) probably null Het
Gask1b C A 3: 79,936,674 (GRCm38) S36* probably null Het
Gm7579 G A 7: 142,211,908 (GRCm38) C17Y unknown Het
Gpx8 G T 13: 113,045,508 (GRCm38) Y130* probably null Het
Gvin1 A T 7: 106,163,436 (GRCm38) Y609N possibly damaging Het
Hectd4 T A 5: 121,305,818 (GRCm38) M30K probably benign Het
Iqub T C 6: 24,450,842 (GRCm38) D586G probably damaging Het
Klhl25 T C 7: 75,867,050 (GRCm38) I568T probably benign Het
Larp6 A G 9: 60,737,810 (GRCm38) E411G probably damaging Het
Lepr A C 4: 101,789,337 (GRCm38) I822L probably benign Het
Lrig3 C A 10: 126,011,052 (GRCm38) D896E probably benign Het
Lrp1 C T 10: 127,553,824 (GRCm38) G3114D probably damaging Het
Lyset A T 12: 102,744,055 (GRCm38) probably benign Het
Macf1 A T 4: 123,486,750 (GRCm38) Y1263N probably damaging Het
Mapk10 T C 5: 102,990,619 (GRCm38) D180G probably damaging Het
Matr3 T A 18: 35,581,640 (GRCm38) V113E probably damaging Het
Mbd4 A T 6: 115,848,926 (GRCm38) F368Y possibly damaging Het
Mcpt8 G A 14: 56,082,280 (GRCm38) R238W probably benign Het
Mcrip2 G T 17: 25,864,647 (GRCm38) T86N possibly damaging Het
Mink1 A G 11: 70,611,592 (GRCm38) N1043S probably damaging Het
Muc4 G A 16: 32,754,616 (GRCm38) G1497R probably benign Het
Muc4 T A 16: 32,754,625 (GRCm38) S1500T probably benign Het
Nbeal2 G A 9: 110,635,194 (GRCm38) T1128I probably benign Het
Nrg2 T A 18: 36,196,547 (GRCm38) Y205F probably damaging Het
Nubp2 A G 17: 24,884,456 (GRCm38) M149T probably benign Het
Or4d2b T A 11: 87,889,225 (GRCm38) M224L probably damaging Het
Or8d6 G T 9: 39,942,504 (GRCm38) M81I probably benign Het
Or8j3c T C 2: 86,422,957 (GRCm38) T240A probably damaging Het
Pdcd5 T C 7: 35,643,710 (GRCm38) N137D possibly damaging Het
Pik3c2a G A 7: 116,340,156 (GRCm38) A1649V probably damaging Het
Pkhd1l1 T C 15: 44,537,378 (GRCm38) S2183P possibly damaging Het
Plekho1 T A 3: 95,988,993 (GRCm38) Q388L possibly damaging Het
Ppfibp1 A G 6: 146,990,514 (GRCm38) T91A probably benign Het
Ptger4 G T 15: 5,242,606 (GRCm38) N177K probably benign Het
Reln A G 5: 21,901,751 (GRCm38) F3207S probably benign Het
Rigi G T 4: 40,210,000 (GRCm38) S644R probably damaging Het
Ripk4 C T 16: 97,751,536 (GRCm38) R194H probably damaging Het
Rnf112 A T 11: 61,452,744 (GRCm38) C112S possibly damaging Het
Rprd1b T G 2: 158,074,935 (GRCm38) Y278* probably null Het
Sel1l A G 12: 91,831,602 (GRCm38) L140P probably damaging Het
Shroom3 G T 5: 92,943,086 (GRCm38) V1151F probably damaging Het
Slc38a3 A G 9: 107,655,064 (GRCm38) V423A probably damaging Het
Slitrk6 T C 14: 110,751,883 (GRCm38) T131A probably damaging Het
Slmap A T 14: 26,460,209 (GRCm38) V323E probably benign Het
Smim6 T C 11: 115,913,504 (GRCm38) V39A probably benign Het
Sorbs1 T C 19: 40,337,005 (GRCm38) T382A probably benign Het
Sparc G A 11: 55,399,211 (GRCm38) T218I possibly damaging Het
Steap1 A T 5: 5,736,589 (GRCm38) F283I probably damaging Het
Stil A G 4: 115,038,474 (GRCm38) T586A probably benign Het
Tbce T A 13: 14,019,795 (GRCm38) D93V probably damaging Het
Tcf12 C T 9: 71,858,840 (GRCm38) G504S probably null Het
Tex55 A G 16: 38,828,145 (GRCm38) S201P probably damaging Het
Tle4 A T 19: 14,464,345 (GRCm38) I435K probably benign Het
Tmem245 A G 4: 56,899,164 (GRCm38) F254S probably damaging Het
Tubgcp3 T C 8: 12,649,722 (GRCm38) K377R probably benign Het
Ush2a A T 1: 188,553,275 (GRCm38) T2003S probably benign Het
Usp53 A G 3: 122,961,363 (GRCm38) S32P possibly damaging Het
Vmn1r78 T A 7: 12,152,756 (GRCm38) L98Q probably damaging Het
Vmn2r116 A C 17: 23,401,803 (GRCm38) Q837P probably benign Het
Vmn2r3 T C 3: 64,275,601 (GRCm38) I226V probably benign Het
Vmn2r84 T A 10: 130,385,843 (GRCm38) D836V probably damaging Het
Vps13d A G 4: 145,087,161 (GRCm38) F165L probably benign Het
Vstm4 A G 14: 32,863,785 (GRCm38) E103G possibly damaging Het
Zfp870 A T 17: 32,883,340 (GRCm38) C339* probably null Het
Other mutations in Pax3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01642:Pax3 APN 1 78,196,663 (GRCm38) critical splice donor site probably null
IGL02249:Pax3 APN 1 78,195,325 (GRCm38) missense probably damaging 0.98
IGL02271:Pax3 APN 1 78,195,332 (GRCm38) missense probably damaging 1.00
IGL02376:Pax3 APN 1 78,132,292 (GRCm38) missense probably damaging 1.00
IGL02530:Pax3 APN 1 78,121,787 (GRCm38) missense possibly damaging 0.87
IGL02950:Pax3 APN 1 78,103,360 (GRCm38) missense probably benign 0.06
Nidoqueen UTSW 1 78,132,232 (GRCm38) missense probably damaging 1.00
Widget UTSW 1 78,122,590 (GRCm38) critical splice donor site probably null
R0049:Pax3 UTSW 1 78,103,504 (GRCm38) missense probably damaging 1.00
R0049:Pax3 UTSW 1 78,103,504 (GRCm38) missense probably damaging 1.00
R0523:Pax3 UTSW 1 78,195,441 (GRCm38) missense possibly damaging 0.83
R1575:Pax3 UTSW 1 78,103,484 (GRCm38) missense probably benign 0.00
R1831:Pax3 UTSW 1 78,132,340 (GRCm38) missense probably damaging 1.00
R1934:Pax3 UTSW 1 78,103,480 (GRCm38) missense possibly damaging 0.90
R2420:Pax3 UTSW 1 78,196,864 (GRCm38) splice site probably null
R2473:Pax3 UTSW 1 78,122,590 (GRCm38) critical splice donor site probably null
R4430:Pax3 UTSW 1 78,195,324 (GRCm38) missense probably damaging 1.00
R4693:Pax3 UTSW 1 78,196,746 (GRCm38) missense probably benign 0.00
R4818:Pax3 UTSW 1 78,132,232 (GRCm38) missense probably damaging 1.00
R4860:Pax3 UTSW 1 78,192,456 (GRCm38) missense possibly damaging 0.78
R5302:Pax3 UTSW 1 78,121,612 (GRCm38) missense possibly damaging 0.88
R5475:Pax3 UTSW 1 78,103,418 (GRCm38) missense probably benign 0.06
R5855:Pax3 UTSW 1 78,121,651 (GRCm38) missense probably damaging 0.99
R6102:Pax3 UTSW 1 78,132,347 (GRCm38) missense probably damaging 1.00
R6190:Pax3 UTSW 1 78,192,549 (GRCm38) missense possibly damaging 0.63
R6856:Pax3 UTSW 1 78,132,419 (GRCm38) missense probably damaging 1.00
R7065:Pax3 UTSW 1 78,194,011 (GRCm38) splice site probably null
R7547:Pax3 UTSW 1 78,122,594 (GRCm38) nonsense probably null
R8059:Pax3 UTSW 1 78,103,366 (GRCm38) missense probably benign 0.04
R8224:Pax3 UTSW 1 78,121,690 (GRCm38) missense probably damaging 1.00
R8312:Pax3 UTSW 1 78,195,369 (GRCm38) missense probably damaging 1.00
R8324:Pax3 UTSW 1 78,193,789 (GRCm38) missense probably damaging 1.00
R9319:Pax3 UTSW 1 78,103,442 (GRCm38) missense probably benign
R9759:Pax3 UTSW 1 78,193,778 (GRCm38) missense probably damaging 1.00
Z1176:Pax3 UTSW 1 78,122,590 (GRCm38) critical splice donor site probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-03-01