Incidental Mutation 'IGL03150:Pax4'
ID411063
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pax4
Ensembl Gene ENSMUSG00000029706
Gene Namepaired box 4
SynonymsPax-4
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03150
Quality Score
Status
Chromosome6
Chromosomal Location28442334-28449353 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 28444339 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Tryptophan at position 239 (G239W)
Ref Sequence ENSEMBL: ENSMUSP00000131301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031718] [ENSMUST00000164519] [ENSMUST00000171089] [ENSMUST00000174194]
Predicted Effect probably null
Transcript: ENSMUST00000031718
AA Change: G239C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031718
Gene: ENSMUSG00000029706
AA Change: G239C

DomainStartEndE-ValueType
PAX 5 129 8.08e-83 SMART
HOX 170 232 8.92e-24 SMART
Predicted Effect probably null
Transcript: ENSMUST00000164519
AA Change: G239W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131301
Gene: ENSMUSG00000029706
AA Change: G239W

DomainStartEndE-ValueType
PAX 5 129 8.08e-83 SMART
HOX 170 232 8.92e-24 SMART
Predicted Effect probably null
Transcript: ENSMUST00000171089
AA Change: G239W

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126000
Gene: ENSMUSG00000029706
AA Change: G239W

DomainStartEndE-ValueType
PAX 5 129 8.08e-83 SMART
HOX 170 232 8.92e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174036
Predicted Effect probably null
Transcript: ENSMUST00000174194
AA Change: G197C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134470
Gene: ENSMUSG00000029706
AA Change: G197C

DomainStartEndE-ValueType
PAX 5 129 8.08e-83 SMART
HOX 139 190 2.22e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174423
Coding Region Coverage
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 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. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for this targeted mutation lack mature insulin- and somatostatin-producing cells (beta and delta, respectively) in the pancreas, but contain glucagon-producing alpha cells in considerably higher numbers relative to wild-type mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,948,066 S1387P probably damaging Het
Aadat C T 8: 60,543,562 S399L probably damaging Het
C530008M17Rik G A 5: 76,867,250 E57K probably damaging Het
Ccdc36 G T 9: 108,404,956 T511K probably damaging Het
Corin T C 5: 72,302,858 D886G probably damaging Het
Eif2ak3 A T 6: 70,892,436 K702N possibly damaging Het
Ercc6 G T 14: 32,558,574 M709I probably damaging Het
Foxa1 T A 12: 57,542,296 E379D probably benign Het
Fscb C T 12: 64,472,430 G754D unknown Het
Gzmb C T 14: 56,260,382 V134I probably benign Het
Muc5b A G 7: 141,865,509 T4010A possibly damaging Het
Necab3 A G 2: 154,554,742 Y55H probably damaging Het
Nova1 T C 12: 46,700,672 N274S possibly damaging Het
Nup54 C A 5: 92,428,164 G156V probably damaging Het
Obscn A T 11: 59,051,723 C4317S probably damaging Het
Papln T A 12: 83,782,984 W960R probably damaging Het
Pcdhb15 C A 18: 37,475,014 T433N probably damaging Het
Ptprj A G 2: 90,460,611 S502P probably damaging Het
Slit3 A G 11: 35,508,257 R150G possibly damaging Het
Srgap2 A T 1: 131,310,600 V658E probably damaging Het
Taar7e A T 10: 24,037,630 D6V probably benign Het
Trim25 T C 11: 89,000,005 C173R probably damaging Het
Trmt1l T C 1: 151,453,892 S529P probably benign Het
Ubn2 C T 6: 38,463,714 P174S probably benign Het
Ubox5 A G 2: 130,600,140 V209A probably benign Het
Vmn2r72 A G 7: 85,751,176 F222L probably damaging Het
Xpot C T 10: 121,609,186 A374T probably benign Het
Zfp451 A G 1: 33,777,454 C472R probably damaging Het
Zfp777 A G 6: 48,044,125 W232R probably damaging Het
Other mutations in Pax4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0034:Pax4 UTSW 6 28442449 missense probably benign
R1523:Pax4 UTSW 6 28444841 missense probably damaging 1.00
R1828:Pax4 UTSW 6 28443447 missense probably benign 0.02
R2014:Pax4 UTSW 6 28446210 missense probably benign 0.01
R4037:Pax4 UTSW 6 28443883 missense probably benign 0.00
R5117:Pax4 UTSW 6 28446279 missense probably benign 0.43
R5163:Pax4 UTSW 6 28446270 missense probably damaging 1.00
R5182:Pax4 UTSW 6 28444369 missense probably benign 0.19
R5200:Pax4 UTSW 6 28445139 missense probably damaging 1.00
R5713:Pax4 UTSW 6 28446185 missense probably damaging 1.00
R5902:Pax4 UTSW 6 28447127 missense probably benign 0.22
R6185:Pax4 UTSW 6 28446348 missense probably damaging 1.00
R6744:Pax4 UTSW 6 28442397 missense probably benign 0.00
R6923:Pax4 UTSW 6 28447119 critical splice donor site probably null
R7054:Pax4 UTSW 6 28446323 missense probably damaging 1.00
R7165:Pax4 UTSW 6 28446137 missense probably damaging 1.00
R8133:Pax4 UTSW 6 28442514 missense probably benign
Z1177:Pax4 UTSW 6 28442460 missense probably damaging 1.00
Z1177:Pax4 UTSW 6 28442463 missense possibly damaging 0.71
Posted On2016-08-02