Incidental Mutation 'R5167:Paxbp1'
ID 397366
Institutional Source Beutler Lab
Gene Symbol Paxbp1
Ensembl Gene ENSMUSG00000022974
Gene Name PAX3 and PAX7 binding protein 1
Synonyms 1810007M14Rik, Pax3/7bp, Gcfc1
MMRRC Submission 042747-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R5167 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 90810925-90841267 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 90819555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118522] [ENSMUST00000145136]
AlphaFold P58501
Predicted Effect probably benign
Transcript: ENSMUST00000023698
SMART Domains Protein: ENSMUSP00000023698
Gene: ENSMUSG00000022974

DomainStartEndE-ValueType
low complexity region 5 27 N/A INTRINSIC
low complexity region 51 57 N/A INTRINSIC
low complexity region 60 86 N/A INTRINSIC
low complexity region 123 136 N/A INTRINSIC
low complexity region 195 208 N/A INTRINSIC
low complexity region 434 444 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000118522
SMART Domains Protein: ENSMUSP00000113835
Gene: ENSMUSG00000022974

DomainStartEndE-ValueType
coiled coil region 3 28 N/A INTRINSIC
low complexity region 114 120 N/A INTRINSIC
low complexity region 123 149 N/A INTRINSIC
low complexity region 186 199 N/A INTRINSIC
low complexity region 258 271 N/A INTRINSIC
low complexity region 525 546 N/A INTRINSIC
Pfam:GCFC 597 812 5.1e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128922
Predicted Effect probably benign
Transcript: ENSMUST00000145136
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146281
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150397
Meta Mutation Damage Score 0.9587 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 97% (38/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may bind to GC-rich DNA sequences, which suggests its involvement in the regulation of transcription. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,862,656 (GRCm39) Y113N probably damaging Het
Bcan G T 3: 87,901,514 (GRCm39) S396Y probably damaging Het
Calm3 T C 7: 16,651,626 (GRCm39) D21G probably damaging Het
Cldn23 C T 8: 36,293,474 (GRCm39) V5M possibly damaging Het
D630003M21Rik A G 2: 158,047,665 (GRCm39) S735P probably damaging Het
Dscaml1 T C 9: 45,628,730 (GRCm39) Y1095H probably damaging Het
Esr2 T C 12: 76,170,048 (GRCm39) T427A probably benign Het
Fbxo28 T C 1: 182,145,558 (GRCm39) I177V possibly damaging Het
Fubp1 T C 3: 151,926,989 (GRCm39) L372P possibly damaging Het
Glis1 G A 4: 107,491,891 (GRCm39) G585E probably damaging Het
Gm7258 T C 7: 128,197,791 (GRCm39) noncoding transcript Het
Hecw1 C T 13: 14,460,242 (GRCm39) R613Q probably damaging Het
Kif13b T C 14: 65,010,384 (GRCm39) S1228P probably damaging Het
Knl1 A G 2: 118,900,512 (GRCm39) I738V probably damaging Het
Lig1 T A 7: 13,044,983 (GRCm39) V892D probably damaging Het
Lvrn T A 18: 47,013,814 (GRCm39) Y499N probably damaging Het
Ly9 C A 1: 171,432,773 (GRCm39) W80L probably damaging Het
Lypd5 T C 7: 24,051,889 (GRCm39) V68A possibly damaging Het
Ngdn C T 14: 55,259,656 (GRCm39) Q236* probably null Het
Nudt7 C A 8: 114,878,567 (GRCm39) C154* probably null Het
Obi1 A G 14: 104,716,223 (GRCm39) S717P probably damaging Het
Or14j10 C A 17: 37,934,642 (GRCm39) E295* probably null Het
Or4f14b A T 2: 111,775,447 (GRCm39) M118K probably damaging Het
Or5b117 T A 19: 13,431,741 (GRCm39) I47F probably damaging Het
Pcnt G T 10: 76,256,258 (GRCm39) Q661K probably damaging Het
Plekha1 G A 7: 130,487,179 (GRCm39) probably null Het
Polr1c G T 17: 46,558,635 (GRCm39) probably benign Het
Rac3 A G 11: 120,613,421 (GRCm39) D58G probably null Het
Rgl2 C T 17: 34,154,948 (GRCm39) R203* probably null Het
Ryr1 T C 7: 28,767,118 (GRCm39) D2948G probably damaging Het
Serpina12 A T 12: 104,004,179 (GRCm39) L151Q probably damaging Het
Sf3a1 T C 11: 4,127,456 (GRCm39) V594A possibly damaging Het
Spdl1 G T 11: 34,704,187 (GRCm39) H549N possibly damaging Het
Srp68 C A 11: 116,156,300 (GRCm39) E147D probably damaging Het
Zfp352 A G 4: 90,112,453 (GRCm39) T198A possibly damaging Het
Other mutations in Paxbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01431:Paxbp1 APN 16 90,832,804 (GRCm39) splice site probably benign
IGL01705:Paxbp1 APN 16 90,813,876 (GRCm39) missense probably benign 0.01
IGL02418:Paxbp1 APN 16 90,831,000 (GRCm39) missense probably damaging 1.00
IGL02527:Paxbp1 APN 16 90,834,161 (GRCm39) missense possibly damaging 0.57
IGL02661:Paxbp1 APN 16 90,827,413 (GRCm39) missense probably benign 0.43
IGL02796:Paxbp1 APN 16 90,822,182 (GRCm39) unclassified probably benign
IGL03336:Paxbp1 APN 16 90,831,060 (GRCm39) missense probably benign
R0016:Paxbp1 UTSW 16 90,832,924 (GRCm39) splice site probably benign
R0306:Paxbp1 UTSW 16 90,819,003 (GRCm39) missense possibly damaging 0.54
R0331:Paxbp1 UTSW 16 90,834,255 (GRCm39) missense possibly damaging 0.95
R0724:Paxbp1 UTSW 16 90,833,424 (GRCm39) missense probably damaging 1.00
R0944:Paxbp1 UTSW 16 90,820,315 (GRCm39) missense probably benign 0.25
R1348:Paxbp1 UTSW 16 90,831,904 (GRCm39) missense probably damaging 0.97
R1909:Paxbp1 UTSW 16 90,841,193 (GRCm39) unclassified probably benign
R2234:Paxbp1 UTSW 16 90,831,822 (GRCm39) missense probably benign 0.05
R3156:Paxbp1 UTSW 16 90,832,878 (GRCm39) missense probably benign 0.00
R3819:Paxbp1 UTSW 16 90,819,640 (GRCm39) unclassified probably benign
R3910:Paxbp1 UTSW 16 90,839,569 (GRCm39) missense probably damaging 1.00
R3949:Paxbp1 UTSW 16 90,840,905 (GRCm39) missense probably damaging 1.00
R4109:Paxbp1 UTSW 16 90,813,786 (GRCm39) missense probably benign 0.10
R4577:Paxbp1 UTSW 16 90,812,042 (GRCm39) missense probably damaging 1.00
R4584:Paxbp1 UTSW 16 90,831,011 (GRCm39) missense probably damaging 1.00
R4596:Paxbp1 UTSW 16 90,827,435 (GRCm39) missense probably benign 0.28
R4837:Paxbp1 UTSW 16 90,831,866 (GRCm39) nonsense probably null
R4877:Paxbp1 UTSW 16 90,841,199 (GRCm39) unclassified probably benign
R5079:Paxbp1 UTSW 16 90,822,034 (GRCm39) critical splice donor site probably null
R5086:Paxbp1 UTSW 16 90,812,104 (GRCm39) unclassified probably benign
R5291:Paxbp1 UTSW 16 90,841,240 (GRCm39) start codon destroyed probably null
R5322:Paxbp1 UTSW 16 90,812,050 (GRCm39) missense probably benign 0.01
R5529:Paxbp1 UTSW 16 90,827,401 (GRCm39) missense possibly damaging 0.62
R5662:Paxbp1 UTSW 16 90,834,285 (GRCm39) missense probably benign 0.45
R5814:Paxbp1 UTSW 16 90,827,384 (GRCm39) missense probably damaging 1.00
R6422:Paxbp1 UTSW 16 90,820,332 (GRCm39) missense probably benign 0.07
R7225:Paxbp1 UTSW 16 90,823,956 (GRCm39) missense probably damaging 1.00
R7495:Paxbp1 UTSW 16 90,813,837 (GRCm39) missense probably damaging 1.00
R7582:Paxbp1 UTSW 16 90,819,555 (GRCm39) critical splice donor site probably null
R7895:Paxbp1 UTSW 16 90,822,166 (GRCm39) missense probably damaging 1.00
R8261:Paxbp1 UTSW 16 90,834,303 (GRCm39) missense probably benign 0.09
R8280:Paxbp1 UTSW 16 90,831,123 (GRCm39) missense probably benign 0.00
R8338:Paxbp1 UTSW 16 90,833,435 (GRCm39) missense probably damaging 1.00
R8941:Paxbp1 UTSW 16 90,832,815 (GRCm39) missense possibly damaging 0.93
R9024:Paxbp1 UTSW 16 90,840,963 (GRCm39) missense possibly damaging 0.92
R9363:Paxbp1 UTSW 16 90,827,395 (GRCm39) missense probably damaging 0.99
R9638:Paxbp1 UTSW 16 90,831,882 (GRCm39) missense probably benign 0.00
R9638:Paxbp1 UTSW 16 90,831,881 (GRCm39) missense probably benign 0.02
R9751:Paxbp1 UTSW 16 90,824,188 (GRCm39) missense probably benign 0.00
X0026:Paxbp1 UTSW 16 90,824,130 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCTGTGAAGTCAAATATACTGAAGG -3'
(R):5'- ATTGTTGGGTCTCAGGTAACC -3'

Sequencing Primer
(F):5'- TACTGAAGGAAACAAACAACAACTC -3'
(R):5'- TTGGGTCTCAGGTAACCTTATG -3'
Posted On 2016-07-06