Incidental Mutation 'R0725:Pigm'
ID 63643
Institutional Source Beutler Lab
Gene Symbol Pigm
Ensembl Gene ENSMUSG00000050229
Gene Name phosphatidylinositol glycan anchor biosynthesis, class M
Synonyms C920011G20Rik, 4933437L05Rik
MMRRC Submission 038907-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0725 (G1)
Quality Score 82
Status Validated
Chromosome 1
Chromosomal Location 172204113-172211666 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 172204384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 40 (D40G)
Ref Sequence ENSEMBL: ENSMUSP00000052838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052455] [ENSMUST00000056136]
AlphaFold Q8C2R7
Predicted Effect probably damaging
Transcript: ENSMUST00000052455
AA Change: D40G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052838
Gene: ENSMUSG00000050229
AA Change: D40G

DomainStartEndE-ValueType
Pfam:PIG-U 24 411 7.4e-18 PFAM
Pfam:Mannosyl_trans 140 408 9.8e-113 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056136
SMART Domains Protein: ENSMUSP00000054356
Gene: ENSMUSG00000044708

DomainStartEndE-ValueType
Pfam:IRK 31 363 2.2e-136 PFAM
Meta Mutation Damage Score 0.8404 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.7%
Validation Efficiency 100% (70/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI on the lumenal side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asph C T 4: 9,542,275 (GRCm39) D305N probably damaging Het
Atp13a3 T C 16: 30,170,205 (GRCm39) K327R probably damaging Het
Cacna1s T C 1: 136,026,264 (GRCm39) probably benign Het
Ccnk T C 12: 108,161,834 (GRCm39) probably benign Het
Cep55 T C 19: 38,048,622 (GRCm39) S93P possibly damaging Het
Cfap300 A T 9: 8,027,144 (GRCm39) D131E probably damaging Het
Cfh A G 1: 140,085,081 (GRCm39) probably benign Het
Clptm1l A G 13: 73,754,462 (GRCm39) T129A probably benign Het
Cntnap5a A G 1: 116,220,206 (GRCm39) E672G probably benign Het
Cpped1 C A 16: 11,646,314 (GRCm39) W170L probably damaging Het
Crygb T C 1: 65,121,100 (GRCm39) I76V probably benign Het
Cyp3a25 A G 5: 145,931,746 (GRCm39) S121P probably damaging Het
Cyp4b1 T C 4: 115,484,024 (GRCm39) D395G probably damaging Het
Dll4 T C 2: 119,163,170 (GRCm39) V597A probably damaging Het
Dock7 T C 4: 98,833,528 (GRCm39) D1891G probably damaging Het
Dsel T C 1: 111,787,682 (GRCm39) D951G possibly damaging Het
Dync2h1 C A 9: 7,015,497 (GRCm39) V3603F possibly damaging Het
Fam167b C A 4: 129,472,078 (GRCm39) A31S probably damaging Het
Fgfrl1 T A 5: 108,852,539 (GRCm39) I25N probably damaging Het
Gzf1 C T 2: 148,526,569 (GRCm39) R347* probably null Het
Heatr5b T A 17: 79,103,825 (GRCm39) I1117F probably benign Het
Kntc1 T C 5: 123,907,767 (GRCm39) V456A possibly damaging Het
Macc1 C A 12: 119,411,251 (GRCm39) S673* probably null Het
Mpp4 T C 1: 59,160,581 (GRCm39) E574G probably damaging Het
Muc20 C T 16: 32,613,858 (GRCm39) M506I probably benign Het
Ncbp1 A G 4: 46,152,056 (GRCm39) T218A probably benign Het
Nfxl1 A T 5: 72,716,473 (GRCm39) V46E probably benign Het
Nfyc G T 4: 120,625,931 (GRCm39) probably benign Het
Niban1 A G 1: 151,581,766 (GRCm39) E454G probably benign Het
Or51f5 T A 7: 102,423,739 (GRCm39) S3T probably benign Het
Or8g55 A T 9: 39,784,643 (GRCm39) Q24L probably damaging Het
Osbpl8 T C 10: 111,122,101 (GRCm39) F681S possibly damaging Het
Pcm1 G C 8: 41,740,848 (GRCm39) E1031D probably damaging Het
Pdcd11 A G 19: 47,115,730 (GRCm39) E1486G probably benign Het
Pex12 G T 11: 83,188,860 (GRCm39) A45E probably damaging Het
Pheta1 T A 5: 121,991,314 (GRCm39) H225Q probably benign Het
Pkp1 G T 1: 135,808,478 (GRCm39) N496K probably benign Het
Psmc4 T C 7: 27,748,287 (GRCm39) I54V probably benign Het
Rbm33 T C 5: 28,599,481 (GRCm39) V951A unknown Het
Selenbp2 G T 3: 94,604,809 (GRCm39) probably benign Het
Slc3a1 G A 17: 85,368,263 (GRCm39) W510* probably null Het
Stx12 A C 4: 132,584,701 (GRCm39) probably benign Het
Tas2r125 G T 6: 132,887,085 (GRCm39) D158Y probably benign Het
Tchp C A 5: 114,857,682 (GRCm39) Q392K probably benign Het
Tmed11 T A 5: 108,926,855 (GRCm39) D139V probably damaging Het
Ttn C T 2: 76,578,654 (GRCm39) V24080M probably damaging Het
Ush2a G A 1: 188,683,722 (GRCm39) G4967D probably damaging Het
Vezf1 T C 11: 87,964,156 (GRCm39) S103P probably benign Het
Xpnpep3 T C 15: 81,315,043 (GRCm39) S248P probably damaging Het
Yipf2 G C 9: 21,503,519 (GRCm39) probably null Het
Zfp110 A T 7: 12,570,290 (GRCm39) Q39L possibly damaging Het
Zfp287 A T 11: 62,605,039 (GRCm39) C623S probably damaging Het
Other mutations in Pigm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01800:Pigm APN 1 172,204,770 (GRCm39) missense probably damaging 0.99
IGL02055:Pigm APN 1 172,204,732 (GRCm39) missense probably benign
IGL02129:Pigm APN 1 172,205,434 (GRCm39) nonsense probably null
IGL02888:Pigm APN 1 172,205,214 (GRCm39) missense probably damaging 1.00
IGL03280:Pigm APN 1 172,204,420 (GRCm39) missense probably damaging 1.00
R1371:Pigm UTSW 1 172,204,381 (GRCm39) missense probably damaging 1.00
R1691:Pigm UTSW 1 172,204,354 (GRCm39) missense probably benign 0.30
R1991:Pigm UTSW 1 172,204,828 (GRCm39) missense probably damaging 1.00
R2089:Pigm UTSW 1 172,205,100 (GRCm39) missense probably damaging 1.00
R2091:Pigm UTSW 1 172,205,100 (GRCm39) missense probably damaging 1.00
R2091:Pigm UTSW 1 172,205,100 (GRCm39) missense probably damaging 1.00
R5718:Pigm UTSW 1 172,205,012 (GRCm39) splice site probably null
R6640:Pigm UTSW 1 172,205,254 (GRCm39) missense probably damaging 1.00
R7070:Pigm UTSW 1 172,205,233 (GRCm39) missense probably damaging 0.98
R8273:Pigm UTSW 1 172,205,524 (GRCm39) missense probably benign 0.27
R8883:Pigm UTSW 1 172,205,085 (GRCm39) missense probably damaging 1.00
X0003:Pigm UTSW 1 172,204,303 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AATCCCGAGGAAGGCAATCGTTC -3'
(R):5'- GAAGAGTTCGCTGAGGTAGACGTTG -3'

Sequencing Primer
(F):5'- TAGCAGAGGAGATGCTCCC -3'
(R):5'- AGGTAGACGTTGGGGGTGAG -3'
Posted On 2013-07-30