Incidental Mutation 'R0117:Peds1'
ID 20862
Institutional Source Beutler Lab
Gene Symbol Peds1
Ensembl Gene ENSMUSG00000090213
Gene Name plasmanylethanolamine desaturase 1
Synonyms Tmem189
MMRRC Submission 038403-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0117 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 167485145-167503464 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 167486678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006587] [ENSMUST00000125544]
AlphaFold Q99LQ7
Predicted Effect probably benign
Transcript: ENSMUST00000006587
SMART Domains Protein: ENSMUSP00000006587
Gene: ENSMUSG00000090213

DomainStartEndE-ValueType
transmembrane domain 47 69 N/A INTRINSIC
Pfam:Kua-UEV1_localn 85 263 4.9e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125544
SMART Domains Protein: ENSMUSP00000118416
Gene: ENSMUSG00000089739

DomainStartEndE-ValueType
transmembrane domain 47 69 N/A INTRINSIC
low complexity region 76 88 N/A INTRINSIC
UBCc 239 371 1.53e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142148
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148262
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175531
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.1%
Validation Efficiency 95% (59/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Co-transcription of this gene and the neighboring downstream gene (ubiquitin-conjugating enzyme E2 variant 1) generates a rare read-through transcript, which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. The protein encoded by this individual gene lacks a UEV1 domain but includes three transmembrane regions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl4 A T 17: 33,999,776 (GRCm39) I141K probably damaging Het
Bbs10 T A 10: 111,135,194 (GRCm39) D102E possibly damaging Het
Btaf1 A G 19: 36,947,368 (GRCm39) T486A probably benign Het
Casp8ap2 A G 4: 32,640,817 (GRCm39) T624A probably benign Het
Cep192 T C 18: 67,983,808 (GRCm39) probably null Het
Cep76 T C 18: 67,759,744 (GRCm39) Y323C possibly damaging Het
CK137956 T A 4: 127,840,585 (GRCm39) T374S possibly damaging Het
Cyp2b23 A T 7: 26,372,539 (GRCm39) F359I probably benign Het
Cyp4f13 G T 17: 33,149,580 (GRCm39) H194Q probably damaging Het
Dach1 C T 14: 98,406,184 (GRCm39) G188R probably damaging Het
Def8 G A 8: 124,183,234 (GRCm39) A278T probably damaging Het
Dscam T C 16: 96,474,878 (GRCm39) H1228R probably benign Het
Eps15 T A 4: 109,240,016 (GRCm39) D667E probably damaging Het
Fig4 G A 10: 41,106,037 (GRCm39) R716* probably null Het
Fmnl3 G C 15: 99,220,619 (GRCm39) probably benign Het
Gmpr T A 13: 45,670,560 (GRCm39) probably null Het
Gsta5 C T 9: 78,211,700 (GRCm39) T154I probably damaging Het
Helz2 C A 2: 180,874,552 (GRCm39) G1981C probably damaging Het
Herc2 C A 7: 55,863,359 (GRCm39) probably benign Het
Htr2a G A 14: 74,882,533 (GRCm39) R173H probably damaging Het
Impg2 A G 16: 56,082,005 (GRCm39) N979S probably damaging Het
Kcna2 A G 3: 107,012,670 (GRCm39) Y417C probably damaging Het
Lmf1 G T 17: 25,874,965 (GRCm39) probably benign Het
Lmntd2 G A 7: 140,790,036 (GRCm39) R659C possibly damaging Het
Mcm9 A G 10: 53,413,832 (GRCm39) V416A possibly damaging Het
Mgarp G T 3: 51,304,133 (GRCm39) probably benign Het
Mpp3 G A 11: 101,891,399 (GRCm39) P580S probably damaging Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Ninl G A 2: 150,779,593 (GRCm39) R269W probably damaging Het
Or7e170 T C 9: 19,795,595 (GRCm39) E2G probably damaging Het
Or8g19 T A 9: 39,056,146 (GRCm39) I250N probably damaging Het
Or8h8 T A 2: 86,753,214 (GRCm39) I221F probably damaging Het
Pcnt A T 10: 76,244,561 (GRCm39) L1173* probably null Het
Pde6c A G 19: 38,139,979 (GRCm39) E314G probably damaging Het
Phldb1 T C 9: 44,623,003 (GRCm39) M1V probably null Het
Pkdrej T A 15: 85,700,300 (GRCm39) probably null Het
Plch2 T A 4: 155,069,815 (GRCm39) probably benign Het
Pld2 G A 11: 70,448,214 (GRCm39) R887Q probably benign Het
Plxnb1 A G 9: 108,934,286 (GRCm39) D838G possibly damaging Het
Postn C T 3: 54,290,902 (GRCm39) probably benign Het
Prl8a8 T A 13: 27,692,473 (GRCm39) I172F probably damaging Het
Psmc4 A T 7: 27,742,165 (GRCm39) probably benign Het
Rabgap1 T A 2: 37,451,897 (GRCm39) probably null Het
Rapgef2 A G 3: 78,986,484 (GRCm39) S1017P probably benign Het
Rbak G T 5: 143,159,387 (GRCm39) Y555* probably null Het
Serpina1c T G 12: 103,861,271 (GRCm39) *414C probably null Het
Sntb1 A G 15: 55,769,749 (GRCm39) V80A probably benign Het
Sorl1 A G 9: 41,944,873 (GRCm39) V884A probably benign Het
Stmnd1 C A 13: 46,438,962 (GRCm39) Q65K possibly damaging Het
Tgm5 C T 2: 120,905,583 (GRCm39) probably null Het
Tubb1 T C 2: 174,299,577 (GRCm39) S420P probably benign Het
Tvp23b T C 11: 62,770,430 (GRCm39) probably benign Het
Xirp2 C T 2: 67,347,464 (GRCm39) A3235V possibly damaging Het
Zc3h15 T C 2: 83,488,427 (GRCm39) S122P possibly damaging Het
Other mutations in Peds1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0505:Peds1 UTSW 2 167,486,907 (GRCm39) splice site probably benign
R2316:Peds1 UTSW 2 167,496,635 (GRCm39) missense possibly damaging 0.91
R7097:Peds1 UTSW 2 167,503,398 (GRCm39) missense probably benign
R8136:Peds1 UTSW 2 167,486,879 (GRCm39) missense probably benign 0.04
Z1088:Peds1 UTSW 2 167,486,784 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCTAAGCCCAGGGCAGTGAATAAG -3'
(R):5'- GACCATCTTTGGCACCTTCACCAAC -3'

Sequencing Primer
(F):5'- ggcagtgaataagcaccgag -3'
(R):5'- TCACCAACCAGATCCACAAGTG -3'
Posted On 2013-04-11