Incidental Mutation 'R1371:Pigm'
ID 157299
Institutional Source Beutler Lab
Gene Symbol Pigm
Ensembl Gene ENSMUSG00000050229
Gene Name phosphatidylinositol glycan anchor biosynthesis, class M
Synonyms C920011G20Rik, 4933437L05Rik
MMRRC Submission 039435-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1371 (G1)
Quality Score 187
Status Validated
Chromosome 1
Chromosomal Location 172204113-172211666 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 172204381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 39 (Q39L)
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: Q39L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052838
Gene: ENSMUSG00000050229
AA Change: Q39L

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 0.6533 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.7%
  • 20x: 89.0%
Validation Efficiency 100% (55/55)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,844,379 (GRCm39) D884V probably damaging Het
Acvr2a C T 2: 48,789,628 (GRCm39) T457M probably damaging Het
Akr1b10 C T 6: 34,369,394 (GRCm39) T208I probably benign Het
Aldh16a1 G T 7: 44,796,674 (GRCm39) T275K possibly damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Asgr1 T G 11: 69,946,923 (GRCm39) C56W probably benign Het
Atp11b T C 3: 35,860,918 (GRCm39) I335T probably damaging Het
BC061237 A G 14: 44,741,762 (GRCm39) probably benign Het
Bdh1 G T 16: 31,275,720 (GRCm39) K280N probably benign Het
Bmp1 C T 14: 70,729,906 (GRCm39) C466Y probably damaging Het
Ccdc181 A G 1: 164,108,172 (GRCm39) E285G probably benign Het
Ces1f C T 8: 94,006,277 (GRCm39) G18R probably damaging Het
Cfap43 T A 19: 47,824,045 (GRCm39) I109L possibly damaging Het
Cma2 T C 14: 56,210,283 (GRCm39) L56S probably damaging Het
Edc4 A G 8: 106,617,382 (GRCm39) probably benign Het
F3 T C 3: 121,526,159 (GRCm39) C241R probably damaging Het
Fhdc1 T A 3: 84,352,310 (GRCm39) S972C probably damaging Het
Heatr1 T G 13: 12,432,513 (GRCm39) I1086R possibly damaging Het
Hsh2d A T 8: 72,950,738 (GRCm39) probably benign Het
Ice1 T C 13: 70,744,340 (GRCm39) Y2081C probably damaging Het
Il1rl1 A G 1: 40,481,873 (GRCm39) N194D probably damaging Het
Ip6k1 G A 9: 107,923,022 (GRCm39) V385M probably damaging Het
Lig1 G A 7: 13,022,611 (GRCm39) R147Q probably damaging Het
Lrp1b C T 2: 40,537,165 (GRCm39) V41I probably damaging Het
Macroh2a2 A T 10: 61,585,112 (GRCm39) D177E possibly damaging Het
Mst1r T A 9: 107,794,424 (GRCm39) V1201E probably damaging Het
Myof T C 19: 37,892,116 (GRCm39) probably benign Het
Nbas G T 12: 13,532,379 (GRCm39) probably benign Het
Ndst1 A G 18: 60,840,719 (GRCm39) I321T possibly damaging Het
Nek10 G A 14: 14,850,983 (GRCm38) G343R probably damaging Het
Or2a7 A T 6: 43,151,234 (GRCm39) T105S probably benign Het
Or2y1 T A 11: 49,385,650 (GRCm39) C97S probably damaging Het
Or4d2b A T 11: 87,780,122 (GRCm39) I200N probably damaging Het
Pde4d T C 13: 109,253,595 (GRCm39) S141P probably benign Het
Prl7a2 T A 13: 27,846,750 (GRCm39) I88F probably benign Het
Prss16 T A 13: 22,192,856 (GRCm39) probably benign Het
Psmc4 G A 7: 27,742,222 (GRCm39) probably benign Het
Ptger3 T A 3: 157,273,365 (GRCm39) C237* probably null Het
Recql G A 6: 142,318,601 (GRCm39) T214M probably damaging Het
Rfx7 T A 9: 72,526,857 (GRCm39) V1349D probably damaging Het
Ros1 A G 10: 51,964,041 (GRCm39) S1740P probably damaging Het
Rrm2b A T 15: 37,947,053 (GRCm39) S83T probably benign Het
Sall4 A G 2: 168,598,394 (GRCm39) Y149H probably benign Het
Smad1 A G 8: 80,076,207 (GRCm39) probably benign Het
Snrnp70 T C 7: 45,030,129 (GRCm39) probably benign Het
Spef2 C A 15: 9,725,194 (GRCm39) probably benign Het
Sptlc1 T C 13: 53,505,660 (GRCm39) T253A probably benign Het
Zbbx T C 3: 74,959,784 (GRCm39) Y595C possibly damaging Het
Zfp382 T C 7: 29,833,114 (GRCm39) V255A probably benign 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
R0725:Pigm UTSW 1 172,204,384 (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 2014-02-18