Incidental Mutation 'R3947:Pex11g'
ID 307753
Institutional Source Beutler Lab
Gene Symbol Pex11g
Ensembl Gene ENSMUSG00000069633
Gene Name peroxisomal biogenesis factor 11 gamma
Synonyms Pex11c, Pex11gamma, 1810022F11Rik, 1810049N02Rik
MMRRC Submission 040927-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3947 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 3507105-3517648 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 3515787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 82 (T82I)
Ref Sequence ENSEMBL: ENSMUSP00000004686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004686] [ENSMUST00000111081]
AlphaFold Q6P6M5
Predicted Effect probably benign
Transcript: ENSMUST00000004686
AA Change: T82I

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000004686
Gene: ENSMUSG00000069633
AA Change: T82I

DomainStartEndE-ValueType
Pfam:PEX11 4 230 4.5e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111081
SMART Domains Protein: ENSMUSP00000106710
Gene: ENSMUSG00000069633

DomainStartEndE-ValueType
Pfam:PEX11 1 151 4.2e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118194
SMART Domains Protein: ENSMUSP00000113294
Gene: ENSMUSG00000069633

DomainStartEndE-ValueType
Pfam:PEX11 4 144 3.1e-43 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (32/33)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the PEX11 family. This family is reported to regulate the number and size of peroxisomes in evolutionarily distant organisms. The protein encoded by this gene may induce clustering of peroxisomes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 T A 14: 54,916,790 (GRCm39) Q133L possibly damaging Het
Adgrg4 C T X: 55,963,114 (GRCm39) T1561I probably benign Het
Avl9 T C 6: 56,705,650 (GRCm39) probably null Het
C87436 T A 6: 86,423,168 (GRCm39) H247Q probably damaging Het
Cfap43 G T 19: 47,754,418 (GRCm39) H969N probably benign Het
Chst15 T A 7: 131,849,604 (GRCm39) N446Y probably damaging Het
Col4a3 T A 1: 82,693,053 (GRCm39) I1446N probably damaging Het
Disc1 A G 8: 125,814,874 (GRCm39) E246G probably damaging Het
Dyrk4 A G 6: 126,862,268 (GRCm39) I408T probably damaging Het
Fnbp1l G T 3: 122,338,228 (GRCm39) A481D possibly damaging Het
Gm10608 TACACACACACACACACACACACACACACACACACACACACACACACACACACACA TACACACACACACACACACACACACACACACACACACACACACACACACA 9: 118,989,730 (GRCm39) probably benign Het
Grk2 G A 19: 4,342,445 (GRCm39) T129M possibly damaging Het
Ino80d G T 1: 63,113,662 (GRCm39) Q263K probably benign Het
Iqsec3 A T 6: 121,364,783 (GRCm39) Y835* probably null Het
Irak3 T A 10: 120,006,278 (GRCm39) M213L probably benign Het
Macf1 T C 4: 123,274,213 (GRCm39) R6388G probably damaging Het
Mtnr1a T C 8: 45,540,557 (GRCm39) Y173H probably damaging Het
Myo5b C T 18: 74,828,474 (GRCm39) R709W probably damaging Het
Nebl A T 2: 17,382,917 (GRCm39) probably null Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or2g1 A T 17: 38,107,006 (GRCm39) I224L probably benign Het
Pgr A G 9: 8,961,453 (GRCm39) I842V probably benign Het
Pkd1 T A 17: 24,797,011 (GRCm39) probably benign Het
Rbm20 T C 19: 53,801,768 (GRCm39) I92T probably benign Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Ssh2 A G 11: 77,289,082 (GRCm39) D88G probably damaging Het
Suclg2 G T 6: 95,556,219 (GRCm39) probably null Het
Tdrd3 A T 14: 87,744,035 (GRCm39) D655V probably damaging Het
Tex2 C T 11: 106,410,829 (GRCm39) D896N unknown Het
Tmem168 C A 6: 13,583,051 (GRCm39) R610L probably damaging Het
Ttc17 A G 2: 94,206,491 (GRCm39) probably benign Het
Vmn2r99 T C 17: 19,599,252 (GRCm39) M312T probably benign Het
Wdfy3 T C 5: 102,017,902 (GRCm39) E2546G probably damaging Het
Other mutations in Pex11g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02272:Pex11g APN 8 3,515,898 (GRCm39) missense probably benign 0.34
R4597:Pex11g UTSW 8 3,514,043 (GRCm39) missense probably damaging 1.00
R4610:Pex11g UTSW 8 3,515,899 (GRCm39) missense probably benign 0.03
R4898:Pex11g UTSW 8 3,514,042 (GRCm39) missense probably damaging 1.00
R5576:Pex11g UTSW 8 3,515,875 (GRCm39) missense probably damaging 1.00
R6317:Pex11g UTSW 8 3,514,092 (GRCm39) missense probably damaging 1.00
R7195:Pex11g UTSW 8 3,509,237 (GRCm39) missense probably benign 0.00
R8802:Pex11g UTSW 8 3,507,308 (GRCm39) missense unknown
R9345:Pex11g UTSW 8 3,509,363 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- GTGTTCTCTGTCCATCTAAACTCAG -3'
(R):5'- GTATTGCTGCCAGCTGATCG -3'

Sequencing Primer
(F):5'- CAGATGATCAGTTTACCTGCCTGG -3'
(R):5'- CAGCTGATCGGTGGGGTC -3'
Posted On 2015-04-17