Incidental Mutation 'R9647:Gpi1'
ID 726797
Institutional Source Beutler Lab
Gene Symbol Gpi1
Ensembl Gene ENSMUSG00000036427
Gene Name glucose-6-phosphate isomerase 1
Synonyms neuroleukin, MF, Gpi1-t, Gpi-1r, Gpi-1, Gpi-1s, NK/GPI, Org, autocrine motility factor, AMF, Gpi-1t, NK, maturation factor, Gpi1-r, Gpi1-s
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9647 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 33900755-33929761 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33901879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 546 (I546T)
Ref Sequence ENSEMBL: ENSMUSP00000049355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038027] [ENSMUST00000205870] [ENSMUST00000205983] [ENSMUST00000206415]
AlphaFold P06745
PDB Structure Crystal structure of mouse phosphoglucose isomerase [X-RAY DIFFRACTION]
Crystal structure of mouse phosphoglucose isomerase in complex with glucose 6-phosphate [X-RAY DIFFRACTION]
Crystal structure of mouse phosphoglucose isomerase in complex with erythrose 4-phosphate [X-RAY DIFFRACTION]
Crystal structure of mouse AMF [X-RAY DIFFRACTION]
Crystal structure of mouse AMF / phosphate complex [X-RAY DIFFRACTION]
Crystal structure of mouse AMF / E4P complex [X-RAY DIFFRACTION]
Crystal structure of mouse AMF / A5P complex [X-RAY DIFFRACTION]
Crystal structure of mouse AMF / S6P complex [X-RAY DIFFRACTION]
Crystal structure of mouse AMF / 6PG complex [X-RAY DIFFRACTION]
Crystal structure of mouse AMF / F6P complex [X-RAY DIFFRACTION]
>> 2 additional structures at PDB <<
Predicted Effect probably damaging
Transcript: ENSMUST00000038027
AA Change: I546T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049355
Gene: ENSMUSG00000036427
AA Change: I546T

DomainStartEndE-ValueType
Pfam:PGI 54 546 1e-265 PFAM
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000205865
Predicted Effect probably benign
Transcript: ENSMUST00000205870
Predicted Effect probably benign
Transcript: ENSMUST00000205983
Predicted Effect probably benign
Transcript: ENSMUST00000206415
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the glucose phosphate isomerase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In the cytoplasm, the gene product functions as a glycolytic enzyme (glucose-6-phosphate isomerase) that interconverts glucose-6-phosphate and fructose-6-phosphate. Extracellularly, the encoded protein (also referred to as neuroleukin) functions as a neurotrophic factor that promotes survival of skeletal motor neurons and sensory neurons, and as a lymphokine that induces immunoglobulin secretion. The encoded protein is also referred to as autocrine motility factor based on an additional function as a tumor-secreted cytokine and angiogenic factor. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygotes for null mutations fail to develop beyond the egg cylinder stage and die by embryonic day 9.5. Homozygotes for a hypomorphic mutation exhibit nonspherocytic hemolytic anemia with hepatosplenomegaly. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 C A 16: 20,195,310 (GRCm39) R729L probably benign Het
Actr3b T C 5: 26,037,408 (GRCm39) S295P probably benign Het
Alb G A 5: 90,620,544 (GRCm39) probably null Het
Ank2 T A 3: 126,792,623 (GRCm39) N756I possibly damaging Het
Ankar A G 1: 72,689,307 (GRCm39) Y1275H probably damaging Het
Ankrd11 C T 8: 123,617,682 (GRCm39) A2057T probably benign Het
Birc6 G A 17: 74,999,305 (GRCm39) V4678M probably damaging Het
Bmpr1a A G 14: 34,136,694 (GRCm39) V499A probably benign Het
Ccdc142 A G 6: 83,079,259 (GRCm39) N199D probably benign Het
Ccdc179 G T 7: 51,663,311 (GRCm39) Y38* probably null Het
Cdhr2 A T 13: 54,867,394 (GRCm39) M438L probably benign Het
Cfap74 A T 4: 155,549,373 (GRCm39) Q78L unknown Het
Crocc A T 4: 140,774,335 (GRCm39) S155T probably benign Het
Depdc5 T A 5: 33,081,567 (GRCm39) H576Q possibly damaging Het
Dhx30 A T 9: 109,922,214 (GRCm39) L156Q probably damaging Het
Dido1 T A 2: 180,315,068 (GRCm39) T795S probably benign Het
Dlx1 T C 2: 71,360,476 (GRCm39) S47P probably benign Het
Dspp G A 5: 104,323,636 (GRCm39) A260T possibly damaging Het
Ephx2 T C 14: 66,326,957 (GRCm39) T413A probably benign Het
Erp44 A C 4: 48,205,166 (GRCm39) L276V probably benign Het
Fastkd5 T A 2: 130,457,729 (GRCm39) Q287L probably damaging Het
Foxh1 T A 15: 76,553,460 (GRCm39) H114L possibly damaging Het
Fry A T 5: 150,292,984 (GRCm39) L410F probably damaging Het
Gamt T A 10: 80,095,672 (GRCm39) H86L probably damaging Het
Gdpd5 G T 7: 99,104,241 (GRCm39) R483L probably benign Het
Gm17067 A C 7: 42,357,569 (GRCm39) V311G probably benign Het
Gpatch2 C T 1: 187,054,542 (GRCm39) T422I probably damaging Het
Gyg1 A C 3: 20,177,007 (GRCm39) S328A probably benign Het
Heatr1 T A 13: 12,441,679 (GRCm39) V1491E probably benign Het
Hrob A T 11: 102,146,586 (GRCm39) Q287H possibly damaging Het
Ildr2 T C 1: 166,137,038 (GRCm39) S626P probably benign Het
Insr T G 8: 3,205,874 (GRCm39) E1305A probably benign Het
Iqca1 T A 1: 89,998,258 (GRCm39) T572S probably benign Het
Kdm4a A T 4: 118,003,790 (GRCm39) M762K probably benign Het
Kdm4a T A 4: 118,017,399 (GRCm39) T556S probably benign Het
Lama1 A G 17: 68,024,170 (GRCm39) I89M Het
Larp7 T C 3: 127,334,211 (GRCm39) K539E probably damaging Het
Mmadhc C A 2: 50,186,482 (GRCm39) probably benign Het
Mmp2 A G 8: 93,567,114 (GRCm39) D478G probably damaging Het
Nat10 T C 2: 103,578,538 (GRCm39) Q222R probably benign Het
Nlgn1 A T 3: 25,488,182 (GRCm39) Y718N probably damaging Het
Nlrp5 A T 7: 23,107,576 (GRCm39) E83V probably benign Het
Odc1 T C 12: 17,598,614 (GRCm39) V218A possibly damaging Het
Or10al4 A T 17: 38,037,796 (GRCm39) I294F probably damaging Het
Or11g26 G C 14: 50,753,552 (GRCm39) R297T probably damaging Het
Or9r3 A G 10: 129,948,029 (GRCm39) I210T probably damaging Het
Oxsr1 G A 9: 119,083,932 (GRCm39) S324F probably damaging Het
Pclo C T 5: 14,731,788 (GRCm39) T304M Het
Pgghg A G 7: 140,526,743 (GRCm39) R687G possibly damaging Het
Plxna4 A G 6: 32,228,044 (GRCm39) S521P probably damaging Het
Rasgrp4 A G 7: 28,839,917 (GRCm39) S172G probably damaging Het
Rora A G 9: 69,255,450 (GRCm39) D78G probably damaging Het
Sec1 G T 7: 45,328,556 (GRCm39) R164S probably benign Het
Sesn3 A G 9: 14,225,999 (GRCm39) N245D probably benign Het
Slc44a5 T A 3: 153,953,370 (GRCm39) W251R possibly damaging Het
Ssr2 T C 3: 88,487,206 (GRCm39) V7A possibly damaging Het
Syne2 A G 12: 76,151,875 (GRCm39) D1912G possibly damaging Het
Tcea2 C A 2: 181,322,984 (GRCm39) T1N probably benign Het
Tmem131l T C 3: 83,836,018 (GRCm39) Y697C probably damaging Het
Tmx4 T C 2: 134,481,588 (GRCm39) M112V probably benign Het
Tom1 G T 8: 75,785,495 (GRCm39) A330S probably benign Het
Trip4 A T 9: 65,765,616 (GRCm39) L361* probably null Het
Trmt9b T C 8: 36,979,210 (GRCm39) I271T probably benign Het
Trp73 T G 4: 154,165,788 (GRCm39) T142P probably damaging Het
Trpm5 T A 7: 142,634,498 (GRCm39) D683V possibly damaging Het
Trpm7 T C 2: 126,667,562 (GRCm39) I810V probably damaging Het
Trps1 A T 15: 50,524,944 (GRCm39) S995R probably benign Het
Ttn C A 2: 76,608,269 (GRCm39) E17885* probably null Het
Uggt2 A T 14: 119,256,312 (GRCm39) Y1120N probably damaging Het
Unc13a A T 8: 72,104,882 (GRCm39) N793K probably damaging Het
Vcf1 T C 11: 113,568,146 (GRCm39) D103G probably damaging Het
Vmn2r94 T C 17: 18,463,884 (GRCm39) H802R probably benign Het
Vmn2r-ps158 T C 7: 42,697,171 (GRCm39) C743R probably damaging Het
Zdhhc5 A T 2: 84,524,750 (GRCm39) M190K probably benign Het
Zfp719 A T 7: 43,233,602 (GRCm39) N7I possibly damaging Het
Zfp735 A G 11: 73,580,600 (GRCm39) Y33C probably damaging Het
Zgrf1 C T 3: 127,355,251 (GRCm39) T159I probably benign Het
Zzef1 A T 11: 72,760,651 (GRCm39) T1325S probably benign Het
Other mutations in Gpi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Gpi1 APN 7 33,915,375 (GRCm39) intron probably benign
IGL01911:Gpi1 APN 7 33,920,347 (GRCm39) missense probably damaging 1.00
IGL02155:Gpi1 APN 7 33,929,614 (GRCm39) missense possibly damaging 0.94
R0019:Gpi1 UTSW 7 33,920,324 (GRCm39) missense probably damaging 0.99
R1413:Gpi1 UTSW 7 33,929,580 (GRCm39) missense probably benign 0.22
R1974:Gpi1 UTSW 7 33,920,228 (GRCm39) splice site probably null
R2132:Gpi1 UTSW 7 33,905,339 (GRCm39) missense probably damaging 1.00
R2254:Gpi1 UTSW 7 33,902,302 (GRCm39) missense probably damaging 1.00
R2255:Gpi1 UTSW 7 33,902,302 (GRCm39) missense probably damaging 1.00
R2435:Gpi1 UTSW 7 33,905,254 (GRCm39) missense probably damaging 1.00
R2509:Gpi1 UTSW 7 33,905,348 (GRCm39) missense probably damaging 1.00
R2510:Gpi1 UTSW 7 33,905,348 (GRCm39) missense probably damaging 1.00
R3408:Gpi1 UTSW 7 33,902,104 (GRCm39) missense probably damaging 0.99
R5059:Gpi1 UTSW 7 33,907,113 (GRCm39) missense probably damaging 1.00
R5141:Gpi1 UTSW 7 33,926,521 (GRCm39) intron probably benign
R5272:Gpi1 UTSW 7 33,920,115 (GRCm39) missense probably damaging 1.00
R5980:Gpi1 UTSW 7 33,928,351 (GRCm39) critical splice donor site probably null
R6261:Gpi1 UTSW 7 33,920,170 (GRCm39) missense possibly damaging 0.93
R6788:Gpi1 UTSW 7 33,928,415 (GRCm39) missense probably damaging 1.00
R6835:Gpi1 UTSW 7 33,926,563 (GRCm39) missense possibly damaging 0.89
R6989:Gpi1 UTSW 7 33,901,945 (GRCm39) missense probably damaging 1.00
R8008:Gpi1 UTSW 7 33,917,726 (GRCm39) missense probably damaging 1.00
R8374:Gpi1 UTSW 7 33,920,082 (GRCm39) missense probably benign 0.35
R8485:Gpi1 UTSW 7 33,918,677 (GRCm39) splice site probably null
R9121:Gpi1 UTSW 7 33,907,114 (GRCm39) missense probably damaging 1.00
RF012:Gpi1 UTSW 7 33,901,902 (GRCm39) missense probably damaging 1.00
Z1177:Gpi1 UTSW 7 33,905,070 (GRCm39) critical splice acceptor site probably null
Z1186:Gpi1 UTSW 7 33,926,662 (GRCm39) missense probably benign
Z1191:Gpi1 UTSW 7 33,926,662 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CATCAGCTTCAACAGGGAGG -3'
(R):5'- AGTTGCCGAGGAATCTCTGTTG -3'

Sequencing Primer
(F):5'- TGGCAGTTCCAGACCAGCTTC -3'
(R):5'- CCGAGGAATCTCTGTTGTGCTTTTG -3'
Posted On 2022-10-06