Incidental Mutation 'IGL02234:Pax7'
ID285834
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pax7
Ensembl Gene ENSMUSG00000028736
Gene Namepaired box 7
SynonymsPax-7
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02234
Quality Score
Status
Chromosome4
Chromosomal Location139737062-139833528 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 139828590 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 189 (I189T)
Ref Sequence ENSEMBL: ENSMUSP00000030508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030508] [ENSMUST00000174681]
Predicted Effect probably damaging
Transcript: ENSMUST00000030508
AA Change: I189T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030508
Gene: ENSMUSG00000028736
AA Change: I189T

DomainStartEndE-ValueType
PAX 34 159 2.07e-89 SMART
low complexity region 163 181 N/A INTRINSIC
HOX 215 277 1.46e-28 SMART
Pfam:Pax7 342 383 1.1e-23 PFAM
low complexity region 413 427 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000174681
AA Change: I191T

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133536
Gene: ENSMUSG00000028736
AA Change: I191T

DomainStartEndE-ValueType
PAX 34 161 1.3e-86 SMART
low complexity region 165 183 N/A INTRINSIC
HOX 217 279 1.46e-28 SMART
Pfam:Pax7 345 385 1.3e-22 PFAM
low complexity region 415 429 N/A INTRINSIC
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 specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit craniofacial malformations involving the nose and maxilla, and die within three weeks after birth. Mice homozygous for floxed alleles activated in muscle cells exhibit reduced satellite cell numbers and impaired muscle regeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,668,220 T1010M possibly damaging Het
Atr A G 9: 95,947,250 probably benign Het
Cdc42bpa A T 1: 180,151,191 K1585* probably null Het
Cdh19 T C 1: 110,932,226 D175G probably damaging Het
Celsr3 G T 9: 108,829,960 R1214L probably benign Het
Chchd1 T C 14: 20,703,410 probably null Het
Col4a1 T C 8: 11,216,713 K1165E probably damaging Het
Col6a4 A G 9: 106,013,432 F1888L possibly damaging Het
Csmd3 C A 15: 47,948,116 R1193L probably damaging Het
Cyp2d11 T A 15: 82,390,139 H347L probably benign Het
Cyp4f13 A G 17: 32,924,774 probably benign Het
Dopey2 T C 16: 93,752,151 V193A probably benign Het
Dus4l T C 12: 31,641,496 probably benign Het
Epc1 G A 18: 6,439,938 H79Y probably damaging Het
Gm12588 T A 11: 121,908,325 Het
Gpr107 T C 2: 31,177,833 Y222H probably damaging Het
Gzmn C T 14: 56,169,007 probably null Het
Helq A G 5: 100,796,470 I258T possibly damaging Het
Hsp90ab1 T C 17: 45,569,735 K137R probably benign Het
Htr1f T A 16: 64,926,067 R287S probably damaging Het
Il20ra A C 10: 19,749,270 D99A probably damaging Het
Lpp C T 16: 24,762,145 R204W probably damaging Het
Mboat7 A G 7: 3,691,351 Y34H probably damaging Het
Mid2 T C X: 140,763,669 S646P probably damaging Het
Msh6 T C 17: 87,986,801 S995P probably damaging Het
Mtmr10 A G 7: 64,299,602 I108V probably benign Het
Muc6 G A 7: 141,640,575 T1395M probably benign Het
Nlrp4f A G 13: 65,194,488 F448L probably damaging Het
Odc1 C A 12: 17,548,620 D220E possibly damaging Het
Olfr1080 T C 2: 86,553,266 N286S probably damaging Het
Pcdh12 T A 18: 38,283,535 H179L probably damaging Het
Pcdh15 A T 10: 74,631,862 M1836L probably benign Het
Psmc5 T C 11: 106,263,010 V390A probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Rpgrip1 A G 14: 52,131,309 probably benign Het
Sema5a C T 15: 32,679,172 R866C probably damaging Het
Stox2 A G 8: 47,193,612 F271S probably damaging Het
Tpgs2 T C 18: 25,149,244 probably null Het
Ttll8 T A 15: 88,914,049 I828F possibly damaging Het
Vmn1r7 T C 6: 57,024,552 Y241C probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Pax7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03005:Pax7 APN 4 139828696 missense probably damaging 1.00
IGL03143:Pax7 APN 4 139829487 splice site probably benign
R0266:Pax7 UTSW 4 139779736 missense possibly damaging 0.79
R1843:Pax7 UTSW 4 139784491 missense probably damaging 1.00
R1891:Pax7 UTSW 4 139784626 missense probably damaging 1.00
R2847:Pax7 UTSW 4 139779643 missense possibly damaging 0.90
R2909:Pax7 UTSW 4 139828696 missense possibly damaging 0.62
R3912:Pax7 UTSW 4 139780898 missense probably benign 0.41
R4516:Pax7 UTSW 4 139780793 missense probably benign 0.00
R5060:Pax7 UTSW 4 139779617 missense probably benign 0.00
R5060:Pax7 UTSW 4 139829595 missense probably damaging 1.00
R5089:Pax7 UTSW 4 139830265 missense probably damaging 0.98
R5809:Pax7 UTSW 4 139830371 missense probably damaging 1.00
R7367:Pax7 UTSW 4 139779749 missense probably benign 0.04
R7485:Pax7 UTSW 4 139784569 missense probably benign 0.36
R7823:Pax7 UTSW 4 139740839 missense probably benign 0.20
Z1177:Pax7 UTSW 4 139784491 missense probably damaging 0.98
Z1177:Pax7 UTSW 4 139784515 missense probably benign 0.19
Posted On2015-04-16