Incidental Mutation 'R4516:Pax7'
ID 332903
Institutional Source Beutler Lab
Gene Symbol Pax7
Ensembl Gene ENSMUSG00000028736
Gene Name paired box 7
Synonyms Pax-7
MMRRC Submission 041760-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4516 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 139464373-139560839 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 139508104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 307 (D307A)
Ref Sequence ENSEMBL: ENSMUSP00000133536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030508] [ENSMUST00000174681]
AlphaFold P47239
Predicted Effect probably benign
Transcript: ENSMUST00000030508
AA Change: D305A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030508
Gene: ENSMUSG00000028736
AA Change: D305A

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 probably benign
Transcript: ENSMUST00000174681
AA Change: D307A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000133536
Gene: ENSMUSG00000028736
AA Change: D307A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 92.9%
Validation Efficiency 86% (51/59)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bean1 T C 8: 104,941,786 (GRCm39) S211P probably damaging Het
Bltp1 T C 3: 36,949,460 (GRCm39) S369P possibly damaging Het
Camta1 A G 4: 151,229,177 (GRCm39) S552P possibly damaging Het
Cdh11 T C 8: 103,400,594 (GRCm39) T125A possibly damaging Het
Cdk5rap2 A T 4: 70,194,952 (GRCm39) probably null Het
Cenpc1 A G 5: 86,195,446 (GRCm39) S108P possibly damaging Het
Cfap20dc A T 14: 8,536,609 (GRCm38) D199E probably damaging Het
Cfap44 T A 16: 44,294,227 (GRCm39) Y224* probably null Het
Cfap46 G A 7: 139,239,998 (GRCm39) probably benign Het
Cntrl G A 2: 35,017,993 (GRCm39) V468I probably benign Het
Col6a6 C T 9: 105,576,148 (GRCm39) V2071I possibly damaging Het
Coq7 A T 7: 118,109,130 (GRCm39) L306Q unknown Het
D7Ertd443e C G 7: 133,895,057 (GRCm39) Q591H probably damaging Het
Dchs1 C T 7: 105,404,059 (GRCm39) V2828M probably damaging Het
Dzank1 T A 2: 144,352,042 (GRCm39) probably benign Het
Elmo1 C T 13: 20,467,084 (GRCm39) T235I probably benign Het
Elp3 A T 14: 65,785,326 (GRCm39) F492I possibly damaging Het
Espl1 A G 15: 102,231,671 (GRCm39) S90G probably benign Het
Fbxl20 T C 11: 97,986,061 (GRCm39) probably benign Het
Gm10722 T C 9: 3,000,937 (GRCm39) C6R probably benign Het
Got1 T C 19: 43,493,280 (GRCm39) Y243C probably damaging Het
Hipk1 G T 3: 103,657,688 (GRCm39) H799N probably damaging Het
Kif21a A T 15: 90,855,345 (GRCm39) M673K probably benign Het
Lama3 T A 18: 12,628,415 (GRCm39) D1502E probably damaging Het
Limk1 A G 5: 134,705,640 (GRCm39) probably benign Het
Myo5b A G 18: 74,758,745 (GRCm39) Y242C probably damaging Het
Naa12 G A 18: 80,254,791 (GRCm39) M28I probably benign Het
Ncbp1 T C 4: 46,157,824 (GRCm39) V354A probably damaging Het
Ncoa2 T C 1: 13,217,130 (GRCm39) D1380G probably damaging Het
Ntng1 A G 3: 109,842,329 (GRCm39) I148T probably damaging Het
Oas1d A T 5: 121,057,233 (GRCm39) T280S probably damaging Het
Or1e29 C T 11: 73,667,866 (GRCm39) G96S probably benign Het
Or4c15b T A 2: 89,113,187 (GRCm39) M118L probably benign Het
Pdxdc1 G A 16: 13,656,210 (GRCm39) Q621* probably null Het
Rab29 A T 1: 131,795,469 (GRCm39) Y27F possibly damaging Het
Rab3gap2 G A 1: 184,999,265 (GRCm39) V991I probably benign Het
Ric1 A G 19: 29,548,165 (GRCm39) T278A probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc47a1 T C 11: 61,235,339 (GRCm39) H498R probably benign Het
Spmip6 T C 4: 41,517,200 (GRCm39) probably benign Het
Tas2r116 T C 6: 132,833,113 (GRCm39) L238P probably damaging Het
Tigd5 A T 15: 75,782,364 (GRCm39) R252* probably null Het
Tlr6 A G 5: 65,112,247 (GRCm39) F220S possibly damaging Het
Tmem106b C T 6: 13,075,098 (GRCm39) T95I probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vmn1r174 A G 7: 23,453,768 (GRCm39) I145V probably benign Het
Vps26a T C 10: 62,304,124 (GRCm39) M116V probably damaging Het
Other mutations in Pax7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02234:Pax7 APN 4 139,555,901 (GRCm39) missense probably damaging 0.97
IGL03005:Pax7 APN 4 139,556,007 (GRCm39) missense probably damaging 1.00
IGL03143:Pax7 APN 4 139,556,798 (GRCm39) splice site probably benign
R0266:Pax7 UTSW 4 139,507,047 (GRCm39) missense possibly damaging 0.79
R1843:Pax7 UTSW 4 139,511,802 (GRCm39) missense probably damaging 1.00
R1891:Pax7 UTSW 4 139,511,937 (GRCm39) missense probably damaging 1.00
R2847:Pax7 UTSW 4 139,506,954 (GRCm39) missense possibly damaging 0.90
R2909:Pax7 UTSW 4 139,556,007 (GRCm39) missense possibly damaging 0.62
R3912:Pax7 UTSW 4 139,508,209 (GRCm39) missense probably benign 0.41
R5060:Pax7 UTSW 4 139,556,906 (GRCm39) missense probably damaging 1.00
R5060:Pax7 UTSW 4 139,506,928 (GRCm39) missense probably benign 0.00
R5089:Pax7 UTSW 4 139,557,576 (GRCm39) missense probably damaging 0.98
R5809:Pax7 UTSW 4 139,557,682 (GRCm39) missense probably damaging 1.00
R7367:Pax7 UTSW 4 139,507,060 (GRCm39) missense probably benign 0.04
R7485:Pax7 UTSW 4 139,511,880 (GRCm39) missense probably benign 0.36
R7823:Pax7 UTSW 4 139,468,150 (GRCm39) missense probably benign 0.20
R8333:Pax7 UTSW 4 139,557,514 (GRCm39) missense probably damaging 1.00
R8732:Pax7 UTSW 4 139,506,920 (GRCm39) missense probably benign 0.01
R9694:Pax7 UTSW 4 139,556,819 (GRCm39) missense probably benign 0.12
Z1177:Pax7 UTSW 4 139,511,826 (GRCm39) missense probably benign 0.19
Z1177:Pax7 UTSW 4 139,511,802 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AAAAGATCTGCCTTCCTTGAGG -3'
(R):5'- ATTCTAAAAGCCCTCCCTGGAG -3'

Sequencing Primer
(F):5'- CCTTCCTTGAGGGGGTCTC -3'
(R):5'- TGCCTCTGAAGGTCCCTG -3'
Posted On 2015-08-18