Incidental Mutation 'R1828:Pax4'
ID 207006
Institutional Source Beutler Lab
Gene Symbol Pax4
Ensembl Gene ENSMUSG00000029706
Gene Name paired box 4
Synonyms Pax-4
MMRRC Submission 039855-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1828 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 28442333-28449339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28443446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 290 (Y290C)
Ref Sequence ENSEMBL: ENSMUSP00000131301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031718] [ENSMUST00000031719] [ENSMUST00000164519] [ENSMUST00000171089] [ENSMUST00000174194]
AlphaFold P32115
Predicted Effect probably benign
Transcript: ENSMUST00000031718
AA Change: Y303C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031718
Gene: ENSMUSG00000029706
AA Change: Y303C

DomainStartEndE-ValueType
PAX 5 129 8.08e-83 SMART
HOX 170 232 8.92e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000031719
SMART Domains Protein: ENSMUSP00000031719
Gene: ENSMUSG00000029707

DomainStartEndE-ValueType
Pfam:Fascin 24 138 1e-29 PFAM
SCOP:d1dfca2 146 260 2e-48 SMART
Pfam:Fascin 271 381 2.1e-26 PFAM
SCOP:d1dfca4 386 498 3e-53 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164519
AA Change: Y290C

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000131301
Gene: ENSMUSG00000029706
AA Change: Y290C

DomainStartEndE-ValueType
PAX 5 129 8.08e-83 SMART
HOX 170 232 8.92e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171089
AA Change: Y289C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126000
Gene: ENSMUSG00000029706
AA Change: Y289C

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 benign
Transcript: ENSMUST00000174194
AA Change: Y261C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134470
Gene: ENSMUSG00000029706
AA Change: Y261C

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
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.0%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130008F23Rik T C 17: 41,190,962 (GRCm39) T156A probably benign Het
9230106D20Rik A T 10: 19,536,065 (GRCm39) noncoding transcript Het
Abca3 A G 17: 24,585,171 (GRCm39) D144G probably benign Het
Anxa2 T A 9: 69,390,260 (GRCm39) L121Q probably damaging Het
Anxa7 A T 14: 20,512,732 (GRCm39) I267N probably damaging Het
Asb14 A T 14: 26,633,797 (GRCm39) D334V possibly damaging Het
Batf3 A G 1: 190,830,714 (GRCm39) N20S probably benign Het
Bub1b A G 2: 118,468,920 (GRCm39) H895R probably benign Het
C1qtnf12 G A 4: 156,050,160 (GRCm39) probably null Het
Cars1 T C 7: 143,130,385 (GRCm39) I294V probably damaging Het
Ccdc142 G A 6: 83,084,462 (GRCm39) A527T probably damaging Het
Ccdc168 A T 1: 44,096,234 (GRCm39) N1621K possibly damaging Het
Ccdc92 T C 5: 124,913,242 (GRCm39) N96D probably benign Het
Ceacam18 T A 7: 43,288,880 (GRCm39) D210E probably benign Het
Cenpe A G 3: 134,952,257 (GRCm39) T1373A probably damaging Het
Cfap161 T G 7: 83,440,932 (GRCm39) probably null Het
Cimip4 T C 15: 78,270,588 (GRCm39) Y60C possibly damaging Het
Cldn19 A G 4: 119,112,990 (GRCm39) D74G probably benign Het
Clec12a A G 6: 129,330,762 (GRCm39) T115A probably damaging Het
Cox7a2l T A 17: 83,811,397 (GRCm39) Q78L probably benign Het
Crot T C 5: 9,019,080 (GRCm39) N491S probably benign Het
Cspg4b T A 13: 113,505,342 (GRCm39) L2157Q probably damaging Het
Ctr9 A G 7: 110,643,165 (GRCm39) probably null Het
Cyp4f14 T G 17: 33,130,209 (GRCm39) D190A probably damaging Het
D630039A03Rik C T 4: 57,910,240 (GRCm39) V191I probably benign Het
Dnah10 A T 5: 124,838,343 (GRCm39) N1124I probably benign Het
Duox1 T A 2: 122,177,861 (GRCm39) Y1548* probably null Het
Epdr1 G A 13: 19,778,773 (GRCm39) Q6* probably null Het
Erbin A G 13: 103,996,577 (GRCm39) probably null Het
Ero1a A T 14: 45,525,217 (GRCm39) I436K probably damaging Het
Exph5 A T 9: 53,287,941 (GRCm39) Q1674L possibly damaging Het
Fat4 A T 3: 39,037,607 (GRCm39) Y3753F probably damaging Het
Gaa T C 11: 119,174,098 (GRCm39) V763A probably damaging Het
Golim4 G A 3: 75,809,745 (GRCm39) T216I probably damaging Het
Gpr83 G T 9: 14,779,629 (GRCm39) C269F possibly damaging Het
Gtf2f2 A G 14: 76,245,143 (GRCm39) probably null Het
Gtf3c5 T C 2: 28,469,694 (GRCm39) Y70C probably damaging Het
Hao1 T A 2: 134,372,584 (GRCm39) R141S probably benign Het
Hecw2 T C 1: 53,965,182 (GRCm39) D548G probably benign Het
Hr G A 14: 70,809,477 (GRCm39) probably null Het
Hrg A C 16: 22,774,853 (GRCm39) E161A probably damaging Het
Hydin A T 8: 111,237,526 (GRCm39) N1933I probably benign Het
Itpr2 A G 6: 146,229,830 (GRCm39) L1255P probably damaging Het
Kcnma1 C A 14: 23,380,997 (GRCm39) D903Y probably damaging Het
Kif5c T C 2: 49,570,252 (GRCm39) probably null Het
Mgat5b C A 11: 116,868,614 (GRCm39) H512Q probably damaging Het
Mtmr4 T C 11: 87,502,943 (GRCm39) V999A probably benign Het
Mttp G T 3: 137,813,041 (GRCm39) Q545K probably damaging Het
Ncstn CAGCTCCACGAAG CAG 1: 171,899,038 (GRCm39) probably null Het
Nexn A G 3: 151,948,405 (GRCm39) I386T probably damaging Het
Nrip3 A G 7: 109,365,763 (GRCm39) S85P probably benign Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Olr1 T C 6: 129,465,895 (GRCm39) N37S possibly damaging Het
Or14j5 C T 17: 38,161,966 (GRCm39) A161V probably benign Het
Or4b1d A G 2: 89,968,931 (GRCm39) L184S probably damaging Het
Or4c105 A T 2: 88,648,402 (GRCm39) I296F probably benign Het
Or55b3 A G 7: 102,126,720 (GRCm39) L119P probably damaging Het
Or5p80 G T 7: 108,229,855 (GRCm39) V219F possibly damaging Het
Pcdhb2 T A 18: 37,429,038 (GRCm39) V337D probably damaging Het
Pglyrp4 T C 3: 90,640,310 (GRCm39) Y187H probably damaging Het
Pi4ka A G 16: 17,098,614 (GRCm39) M2017T probably benign Het
Pkdrej T C 15: 85,703,483 (GRCm39) T818A possibly damaging Het
Pxk C T 14: 8,151,507 (GRCm38) R441* probably null Het
Pygm T C 19: 6,447,637 (GRCm39) I648T possibly damaging Het
Rab4a A T 8: 124,550,565 (GRCm39) K15I probably damaging Het
Rasa3 T C 8: 13,635,035 (GRCm39) E428G probably benign Het
Rnf182 G A 13: 43,822,010 (GRCm39) W187* probably null Het
Rpl3 C T 15: 79,964,591 (GRCm39) V222M possibly damaging Het
Rtl9 C T X: 141,886,011 (GRCm39) S1141F possibly damaging Het
S100a11 A T 3: 93,433,428 (GRCm39) I91F probably benign Het
Sfswap C T 5: 129,590,148 (GRCm39) T215I probably damaging Het
Slit2 A G 5: 48,461,372 (GRCm39) D1456G probably damaging Het
Tex19.2 C T 11: 121,008,317 (GRCm39) V44I probably benign Het
Tmem127 G A 2: 127,098,094 (GRCm39) probably null Het
Tpd52 G T 3: 9,012,579 (GRCm39) N59K probably damaging Het
Trpc3 G A 3: 36,692,695 (GRCm39) P766S possibly damaging Het
Usp17la T A 7: 104,510,331 (GRCm39) V312D probably damaging Het
Xirp2 A G 2: 67,345,582 (GRCm39) N2608D possibly damaging Het
Zfp764l1 T A 7: 126,991,081 (GRCm39) H302L probably damaging Het
Zscan25 C A 5: 145,227,858 (GRCm39) H507Q possibly damaging Het
Other mutations in Pax4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03150:Pax4 APN 6 28,444,338 (GRCm39) missense probably null 1.00
R0034:Pax4 UTSW 6 28,442,448 (GRCm39) missense probably benign
R1523:Pax4 UTSW 6 28,444,840 (GRCm39) missense probably damaging 1.00
R2014:Pax4 UTSW 6 28,446,209 (GRCm39) missense probably benign 0.01
R4037:Pax4 UTSW 6 28,443,882 (GRCm39) missense probably benign 0.00
R5117:Pax4 UTSW 6 28,446,278 (GRCm39) missense probably benign 0.43
R5163:Pax4 UTSW 6 28,446,269 (GRCm39) missense probably damaging 1.00
R5182:Pax4 UTSW 6 28,444,368 (GRCm39) missense probably benign 0.19
R5200:Pax4 UTSW 6 28,445,138 (GRCm39) missense probably damaging 1.00
R5713:Pax4 UTSW 6 28,446,184 (GRCm39) missense probably damaging 1.00
R5902:Pax4 UTSW 6 28,447,126 (GRCm39) missense probably benign 0.22
R6185:Pax4 UTSW 6 28,446,347 (GRCm39) missense probably damaging 1.00
R6744:Pax4 UTSW 6 28,442,396 (GRCm39) missense probably benign 0.00
R6923:Pax4 UTSW 6 28,447,118 (GRCm39) critical splice donor site probably null
R7054:Pax4 UTSW 6 28,446,322 (GRCm39) missense probably damaging 1.00
R7165:Pax4 UTSW 6 28,446,136 (GRCm39) missense probably damaging 1.00
R8133:Pax4 UTSW 6 28,442,513 (GRCm39) missense probably benign
R9110:Pax4 UTSW 6 28,445,201 (GRCm39) missense probably benign
R9438:Pax4 UTSW 6 28,446,185 (GRCm39) missense possibly damaging 0.94
Z1177:Pax4 UTSW 6 28,442,462 (GRCm39) missense possibly damaging 0.71
Z1177:Pax4 UTSW 6 28,442,459 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCCCAGCTTTAAAAGTGATCC -3'
(R):5'- GGCTTTCCAAATAGGGAGGC -3'

Sequencing Primer
(F):5'- AATGAGATCTGATACCCTCTTCTGG -3'
(R):5'- CTTTCCAAATAGGGAGGCTCACTAG -3'
Posted On 2014-06-23