Incidental Mutation 'R6382:Pgs1'
ID 515389
Institutional Source Beutler Lab
Gene Symbol Pgs1
Ensembl Gene ENSMUSG00000017715
Gene Name phosphatidylglycerophosphate synthase 1
Synonyms 2610019F11Rik, 4933424M23Rik
MMRRC Submission 044531-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6382 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 117877118-117914837 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117894186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 238 (Y238H)
Ref Sequence ENSEMBL: ENSMUSP00000121973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100185] [ENSMUST00000132676]
AlphaFold Q8BHF7
Predicted Effect unknown
Transcript: ENSMUST00000017859
AA Change: Y236H
SMART Domains Protein: ENSMUSP00000017859
Gene: ENSMUSG00000017715
AA Change: Y236H

DomainStartEndE-ValueType
low complexity region 11 56 N/A INTRINSIC
SCOP:d1f0ia1 70 287 4e-25 SMART
PDB:3HSI|C 81 464 7e-8 PDB
Blast:PLDc 211 237 2e-8 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000100185
AA Change: Y108H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097760
Gene: ENSMUSG00000017715
AA Change: Y108H

DomainStartEndE-ValueType
SCOP:d1f0ia1 18 158 7e-13 SMART
Blast:PLDc 82 108 1e-8 BLAST
low complexity region 202 215 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000132676
AA Change: Y238H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121973
Gene: ENSMUSG00000017715
AA Change: Y238H

DomainStartEndE-ValueType
low complexity region 12 57 N/A INTRINSIC
SCOP:d1f0ia1 71 288 3e-25 SMART
PDB:3HSI|C 82 475 3e-9 PDB
Blast:PLDc 212 238 2e-8 BLAST
Blast:PLDc 459 490 1e-13 BLAST
low complexity region 508 521 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184982
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.5%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat T A 16: 8,418,850 (GRCm39) M148K probably benign Het
Aldoc T C 11: 78,216,568 (GRCm39) I242T probably benign Het
Camta2 T C 11: 70,562,867 (GRCm39) T927A probably damaging Het
Ccdc30 T C 4: 119,261,363 (GRCm39) R25G possibly damaging Het
Cdh16 T A 8: 105,348,175 (GRCm39) M181L possibly damaging Het
Clstn1 A T 4: 149,710,577 (GRCm39) probably null Het
Cnot6l C A 5: 96,276,858 (GRCm39) R110L probably damaging Het
Col7a1 G A 9: 108,804,461 (GRCm39) S2264N unknown Het
Cspp1 A G 1: 10,153,700 (GRCm39) probably null Het
Cul1 T A 6: 47,479,373 (GRCm39) L213Q probably damaging Het
Cuta T C 17: 27,157,428 (GRCm39) Q124R probably benign Het
Cyp1a1 T A 9: 57,607,973 (GRCm39) N200K probably damaging Het
Dag1 C A 9: 108,085,336 (GRCm39) A602S possibly damaging Het
Ftdc1 T C 16: 58,434,273 (GRCm39) E148G possibly damaging Het
Gm4707 G A 17: 71,766,238 (GRCm39) probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
H2-T23 T C 17: 36,342,724 (GRCm39) Y138C probably damaging Het
Hnf4a A T 2: 163,410,926 (GRCm39) M408L probably benign Het
Hpse2 A G 19: 43,376,641 (GRCm39) L37P possibly damaging Het
Hsd17b6 A T 10: 127,827,196 (GRCm39) I292N probably damaging Het
Hsp90aa1 A T 12: 110,661,951 (GRCm39) probably null Het
Ifit1bl1 T A 19: 34,572,283 (GRCm39) Y58F probably benign Het
Igkv10-95 A G 6: 68,657,672 (GRCm39) T43A probably benign Het
Igkv6-17 C T 6: 70,348,814 (GRCm39) Q62* probably null Het
Jakmip2 A G 18: 43,704,244 (GRCm39) S367P possibly damaging Het
Lrrc40 A G 3: 157,764,333 (GRCm39) D416G probably damaging Het
Mdm2 A G 10: 117,528,626 (GRCm39) V177A probably benign Het
Mpp1 TGAGACGAACTCTCCGAG TGAG X: 74,169,375 (GRCm39) probably null Het
Myo1b C T 1: 51,813,466 (GRCm39) probably null Het
Notch2 A G 3: 98,048,859 (GRCm39) D1799G probably damaging Het
Obscn C T 11: 58,890,239 (GRCm39) G7431D unknown Het
Obscn A T 11: 58,933,034 (GRCm39) C4781S probably damaging Het
Or2a14 T A 6: 43,130,899 (GRCm39) I220N probably damaging Het
Or7a35 C A 10: 78,853,351 (GRCm39) S65Y probably damaging Het
Pard3 T A 8: 128,103,264 (GRCm39) V411D probably damaging Het
Pfkl T C 10: 77,835,671 (GRCm39) R246G probably damaging Het
Pik3c2g A G 6: 139,665,724 (GRCm39) E15G possibly damaging Het
Pja2 A G 17: 64,616,610 (GRCm39) V95A probably benign Het
Ripor2 T C 13: 24,861,828 (GRCm39) I207T possibly damaging Het
Rps15 A G 10: 80,129,820 (GRCm39) Y115C probably damaging Het
Shkbp1 C A 7: 27,051,484 (GRCm39) E192* probably null Het
Slc23a4 T A 6: 34,933,978 (GRCm39) M42L probably benign Het
Snx25 T A 8: 46,509,028 (GRCm39) S373C probably benign Het
Sppl2a A T 2: 126,758,949 (GRCm39) probably null Het
Tektl1 G A 10: 78,588,675 (GRCm39) T45I possibly damaging Het
Tpcn2 A G 7: 144,823,486 (GRCm39) S256P possibly damaging Het
Txk C T 5: 72,893,823 (GRCm39) probably benign Het
Ubr2 C G 17: 47,268,241 (GRCm39) W991S possibly damaging Het
Ufc1 A G 1: 171,122,248 (GRCm39) W28R probably damaging Het
Unc93b1 C A 19: 3,985,297 (GRCm39) A35E probably benign Het
Ush2a A G 1: 188,546,499 (GRCm39) N3425S probably benign Het
Vmn1r32 A G 6: 66,530,345 (GRCm39) Y144H probably benign Het
Vmn1r76 A G 7: 11,664,426 (GRCm39) F228L probably damaging Het
Zfc3h1 A G 10: 115,243,813 (GRCm39) N715D probably benign Het
Zfp933 T C 4: 147,910,325 (GRCm39) S424G probably benign Het
Other mutations in Pgs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00943:Pgs1 APN 11 117,896,366 (GRCm39) missense probably benign 0.07
R1703:Pgs1 UTSW 11 117,905,554 (GRCm39) splice site probably benign
R1747:Pgs1 UTSW 11 117,892,457 (GRCm39) missense probably benign 0.15
R1938:Pgs1 UTSW 11 117,896,553 (GRCm39) missense probably damaging 1.00
R2023:Pgs1 UTSW 11 117,893,228 (GRCm39) missense probably benign 0.00
R2066:Pgs1 UTSW 11 117,905,396 (GRCm39) splice site probably benign
R3826:Pgs1 UTSW 11 117,910,584 (GRCm39) splice site probably null
R3915:Pgs1 UTSW 11 117,910,472 (GRCm39) missense probably benign
R4201:Pgs1 UTSW 11 117,893,362 (GRCm39) missense probably damaging 1.00
R4660:Pgs1 UTSW 11 117,910,503 (GRCm39) missense probably damaging 0.97
R4668:Pgs1 UTSW 11 117,894,333 (GRCm39) missense probably damaging 0.99
R4718:Pgs1 UTSW 11 117,896,709 (GRCm39) missense probably damaging 1.00
R4972:Pgs1 UTSW 11 117,896,719 (GRCm39) critical splice donor site probably null
R4974:Pgs1 UTSW 11 117,896,345 (GRCm39) missense probably benign 0.00
R5414:Pgs1 UTSW 11 117,905,502 (GRCm39) missense probably damaging 0.98
R6053:Pgs1 UTSW 11 117,892,535 (GRCm39) missense probably damaging 1.00
R7030:Pgs1 UTSW 11 117,893,312 (GRCm39) missense probably damaging 0.99
R9777:Pgs1 UTSW 11 117,894,256 (GRCm39) missense probably benign 0.00
Z1177:Pgs1 UTSW 11 117,896,382 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGACCTGTTTTCCACCTGG -3'
(R):5'- GACTTCATGGGGTCCTACCTTTG -3'

Sequencing Primer
(F):5'- GGGAGCCATCTCTGTTCTACCAG -3'
(R):5'- TTGTAAGGGTGCACCATCC -3'
Posted On 2018-05-04