Incidental Mutation 'IGL00087:Pax9'
ID1083
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pax9
Ensembl Gene ENSMUSG00000001497
Gene Namepaired box 9
SynonymsPax-9
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00087
Quality Score
Status
Chromosome12
Chromosomal Location56691767-56712822 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 56700075 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 232 (N232S)
Ref Sequence ENSEMBL: ENSMUSP00000117928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001538] [ENSMUST00000153250]
Predicted Effect probably benign
Transcript: ENSMUST00000001538
AA Change: N232S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000001538
Gene: ENSMUSG00000001497
AA Change: N232S

DomainStartEndE-ValueType
PAX 4 128 6.81e-90 SMART
low complexity region 265 274 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152848
Predicted Effect probably benign
Transcript: ENSMUST00000153250
AA Change: N232S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117928
Gene: ENSMUSG00000001497
AA Change: N232S

DomainStartEndE-ValueType
PAX 4 128 6.81e-90 SMART
low complexity region 265 274 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. Mice lacking this gene exhibit impaired development of organs, musculature and the skeleton, including absent and abnormally developed teeth, and neonatal lethality. Mutations in the human gene are associated with selective tooth agenesis-3. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous inactivation of this gene results in abnormal tooth development and absent teeth and may lead to lack of pharyngeal pouch derivatives, athymia, craniofacial and limb anomalies, a small tympanic ring, various defects of the skeleton and musculature, and neonatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik C A 3: 121,679,633 probably benign Het
4930572O03Rik C A 5: 15,656,886 probably benign Het
Actr2 C A 11: 20,094,370 V79L probably benign Het
Ankrd36 A C 11: 5,620,131 Y533S probably benign Het
Btnl1 A T 17: 34,381,117 D198V probably damaging Het
Carmil2 T A 8: 105,691,406 I684N probably benign Het
Ccdc129 T A 6: 55,968,037 L581Q possibly damaging Het
Cdk17 T A 10: 93,226,771 V257D probably damaging Het
Ctsj T G 13: 61,001,418 S271R possibly damaging Het
Cul9 T A 17: 46,525,709 Q1130L probably damaging Het
Daam1 G T 12: 71,942,219 S131I unknown Het
Dab1 G A 4: 104,678,810 V139M probably damaging Het
Dab1 A T 4: 104,678,753 I120F possibly damaging Het
Dnah2 A G 11: 69,492,672 V1142A possibly damaging Het
Dsg1b C T 18: 20,396,476 T326I probably damaging Het
Eif3k A C 7: 28,974,676 probably benign Het
Fam76b T C 9: 13,836,884 V3A possibly damaging Het
Fitm2 A G 2: 163,469,792 V167A probably benign Het
Gfap T A 11: 102,888,718 I418F possibly damaging Het
Gm8857 C T 5: 10,947,838 probably benign Het
Grm5 T C 7: 88,130,781 V1143A probably benign Het
Itpr2 A G 6: 146,397,012 I317T probably damaging Het
Kcnn2 A C 18: 45,592,236 R266S probably damaging Het
Kntc1 T A 5: 123,790,159 S1240T probably benign Het
Lmnb2 T C 10: 80,904,037 D490G possibly damaging Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Olfr401 A T 11: 74,121,879 I197F probably benign Het
Pdcd6ip A G 9: 113,697,518 S108P possibly damaging Het
Pitpnc1 T C 11: 107,212,643 E210G possibly damaging Het
Prdm10 T C 9: 31,360,812 probably benign Het
Prl4a1 G A 13: 28,021,460 G136E probably damaging Het
Pstpip2 A G 18: 77,874,294 S255G probably benign Het
Rimbp3 T G 16: 17,209,743 S344A probably benign Het
Rint1 A G 5: 23,794,431 T73A probably benign Het
Rnf145 T C 11: 44,555,212 V291A possibly damaging Het
Rrm1 T A 7: 102,454,507 L221* probably null Het
Scn11a A G 9: 119,770,506 L1114P probably benign Het
Slc44a4 A G 17: 34,930,240 probably benign Het
Sorl1 A C 9: 41,974,094 N2070K probably damaging Het
Spaca7 C T 8: 12,580,941 probably benign Het
Srsf6 G T 2: 162,931,707 V13F probably damaging Het
Stab1 G T 14: 31,161,357 T336N probably benign Het
Strbp A G 2: 37,586,504 probably benign Het
Tbc1d4 A G 14: 101,608,112 F117L probably damaging Het
Tcf20 A G 15: 82,854,895 V785A probably damaging Het
Ticrr A G 7: 79,677,283 K580E probably damaging Het
Ubr4 A T 4: 139,465,322 E4225D possibly damaging Het
Uck1 A T 2: 32,259,669 V66D probably damaging Het
Vmn2r25 A G 6: 123,853,171 F7S probably benign Het
Zan C T 5: 137,387,820 probably null Het
Zfp819 T A 7: 43,611,979 probably benign Het
Other mutations in Pax9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02724:Pax9 APN 12 56709819 missense possibly damaging 0.76
R0008:Pax9 UTSW 12 56709743 missense probably benign
R0008:Pax9 UTSW 12 56709743 missense probably benign
R1836:Pax9 UTSW 12 56700054 missense probably benign 0.03
R1916:Pax9 UTSW 12 56697138 missense possibly damaging 0.60
R2907:Pax9 UTSW 12 56709744 missense probably benign 0.03
R3778:Pax9 UTSW 12 56696748 missense probably damaging 1.00
R4905:Pax9 UTSW 12 56696626 missense probably damaging 1.00
R6247:Pax9 UTSW 12 56709695 missense probably benign
R6469:Pax9 UTSW 12 56696863 missense probably damaging 1.00
R6693:Pax9 UTSW 12 56709731 missense probably benign 0.08
Posted On2011-07-12