Incidental Mutation 'R3904:Pxmp4'
ID 309092
Institutional Source Beutler Lab
Gene Symbol Pxmp4
Ensembl Gene ENSMUSG00000000876
Gene Name peroxisomal membrane protein 4
Synonyms 3010018P03Rik
MMRRC Submission 040812-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R3904 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 154427678-154445592 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 154429969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 140 (R140H)
Ref Sequence ENSEMBL: ENSMUSP00000000896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000896]
AlphaFold Q9JJW0
Predicted Effect probably damaging
Transcript: ENSMUST00000000896
AA Change: R140H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000000896
Gene: ENSMUSG00000000876
AA Change: R140H

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Tim17 20 141 1.8e-18 PFAM
Meta Mutation Damage Score 0.2786 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A C 3: 137,772,400 (GRCm39) I530L probably benign Het
5930422O12Rik T C 8: 33,919,467 (GRCm39) S96P probably damaging Het
Acot4 A G 12: 84,090,101 (GRCm39) probably null Het
Alms1 A G 6: 85,598,660 (GRCm39) D1631G probably benign Het
Amd1 C T 10: 40,166,453 (GRCm39) R210H probably benign Het
Amt C T 9: 108,174,420 (GRCm39) R62C possibly damaging Het
Anapc1 A G 2: 128,484,439 (GRCm39) F1175S probably damaging Het
Ano4 A G 10: 88,860,867 (GRCm39) F337S probably damaging Het
Bub1 A C 2: 127,663,862 (GRCm39) I207S probably benign Het
Cfap53 T A 18: 74,440,445 (GRCm39) L405M probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col6a1 C T 10: 76,547,175 (GRCm39) R730H unknown Het
Esp3 A T 17: 40,946,820 (GRCm39) T48S possibly damaging Het
Fmo1 G T 1: 162,661,337 (GRCm39) N315K possibly damaging Het
Fsip2l T C X: 47,930,421 (GRCm39) N649S possibly damaging Het
Impg1 A G 9: 80,252,867 (GRCm39) S438P possibly damaging Het
Jsrp1 T A 10: 80,648,246 (GRCm39) M1L probably benign Het
Klra14-ps T A 6: 130,129,512 (GRCm39) noncoding transcript Het
Mrm3 A G 11: 76,135,112 (GRCm39) M108V probably benign Het
Mtf2 T A 5: 108,228,866 (GRCm39) F61I probably damaging Het
Nat10 A T 2: 103,556,592 (GRCm39) probably benign Het
Or2y10 T C 11: 49,455,585 (GRCm39) I279T possibly damaging Het
Or7c70 T G 10: 78,683,132 (GRCm39) I206L probably benign Het
Pcgf5 T C 19: 36,417,495 (GRCm39) I140T probably damaging Het
Pfpl T C 19: 12,407,801 (GRCm39) L684P probably benign Het
Psmd10 T C X: 139,850,052 (GRCm39) *152W probably null Het
Ptpn23 A C 9: 110,218,313 (GRCm39) M600R probably benign Het
Rnf112 T C 11: 61,341,211 (GRCm39) E410G probably damaging Het
Samd9l T A 6: 3,376,830 (GRCm39) K144* probably null Het
Shld2 A G 14: 33,981,666 (GRCm39) W491R probably damaging Het
Slc46a3 C T 5: 147,823,264 (GRCm39) E193K probably benign Het
Snap23 A C 2: 120,429,815 (GRCm39) D209A possibly damaging Het
Tg C T 15: 66,638,011 (GRCm39) Q656* probably null Het
Tshz2 A G 2: 169,726,307 (GRCm39) Y301C probably damaging Het
Ttn T A 2: 76,670,638 (GRCm39) probably benign Het
Unc80 C T 1: 66,678,455 (GRCm39) Q2011* probably null Het
Vwa3a A G 7: 120,358,099 (GRCm39) T57A probably benign Het
Zfp518a C T 19: 40,903,364 (GRCm39) Q1098* probably null Het
Other mutations in Pxmp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02245:Pxmp4 APN 2 154,429,870 (GRCm39) missense probably damaging 1.00
R0141:Pxmp4 UTSW 2 154,434,215 (GRCm39) missense probably damaging 0.99
R6491:Pxmp4 UTSW 2 154,434,083 (GRCm39) critical splice donor site probably null
R6543:Pxmp4 UTSW 2 154,429,979 (GRCm39) missense possibly damaging 0.82
R9386:Pxmp4 UTSW 2 154,430,004 (GRCm39) missense probably benign 0.08
RF010:Pxmp4 UTSW 2 154,434,183 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCTGAAGCACCTTGGACTG -3'
(R):5'- TGCCACATCAATCATCTTGCATG -3'

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