Incidental Mutation 'R8008:Gpi1'
ID 616743
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 046048-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8008 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 33900755-33929761 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 33917726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 249 (N249K)
Ref Sequence ENSEMBL: ENSMUSP00000049355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038027] [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: N249K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049355
Gene: ENSMUSG00000036427
AA Change: N249K

DomainStartEndE-ValueType
Pfam:PGI 54 546 1e-265 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205800
Predicted Effect probably benign
Transcript: ENSMUST00000205865
Predicted Effect probably benign
Transcript: ENSMUST00000205983
Predicted Effect probably benign
Transcript: ENSMUST00000206415
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,429,234 (GRCm39) I774F probably benign Het
Alpi A G 1: 87,026,384 (GRCm39) S536P unknown Het
Ankar A G 1: 72,705,643 (GRCm39) V789A possibly damaging Het
Atp5f1b C A 10: 127,919,277 (GRCm39) Q28K unknown Het
Brpf1 T C 6: 113,296,050 (GRCm39) V781A probably benign Het
Cd177 G A 7: 24,451,774 (GRCm39) S414L not run Het
Cimip3 T A 17: 47,747,661 (GRCm39) E28V probably damaging Het
Clca3b T A 3: 144,550,370 (GRCm39) T192S probably benign Het
Coro2a A T 4: 46,551,349 (GRCm39) S119T probably damaging Het
Cpped1 T C 16: 11,646,260 (GRCm39) N164S probably damaging Het
Crybg2 T A 4: 133,818,415 (GRCm39) N1390K probably damaging Het
Epn2 C T 11: 61,437,492 (GRCm39) A27T probably damaging Het
Esp34 T C 17: 38,870,490 (GRCm39) F128S possibly damaging Het
Evpl T A 11: 116,121,298 (GRCm39) N410Y probably null Het
Flnb A G 14: 7,892,155 (GRCm38) Y608C probably damaging Het
Fpr3 T C 17: 18,191,715 (GRCm39) S329P probably benign Het
Frem2 T A 3: 53,560,331 (GRCm39) N1392I probably damaging Het
Garin2 T A 12: 78,761,817 (GRCm39) D160E probably benign Het
Gpr87 T C 3: 59,087,466 (GRCm39) N13S probably benign Het
Gys2 T C 6: 142,400,243 (GRCm39) T323A probably damaging Het
Iqgap3 T C 3: 88,016,770 (GRCm39) I1084T probably damaging Het
Lrfn4 C G 19: 4,663,565 (GRCm39) G323A probably benign Het
Lrrc4c A T 2: 97,460,594 (GRCm39) S407C possibly damaging Het
Map3k20 A T 2: 72,268,613 (GRCm39) Q540L probably benign Het
Myom1 T C 17: 71,407,057 (GRCm39) V1158A probably benign Het
Ncor2 T C 5: 125,144,983 (GRCm39) D378G unknown Het
Nhsl1 T A 10: 18,284,186 (GRCm39) D42E probably damaging Het
Nr0b2 C A 4: 133,283,339 (GRCm39) A192E probably benign Het
Nt5c1b A G 12: 10,425,000 (GRCm39) D182G possibly damaging Het
Or12d14-ps1 T C 17: 37,673,265 (GRCm39) S86P probably damaging Het
Or4c115 A T 2: 88,928,059 (GRCm39) C71S probably benign Het
Or5b119 T C 19: 13,457,170 (GRCm39) T131A probably benign Het
Or5k15 T C 16: 58,710,251 (GRCm39) T111A probably benign Het
Or8b12 A T 9: 37,658,089 (GRCm39) I220F probably damaging Het
Pepd A G 7: 34,721,126 (GRCm39) N250S probably benign Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Pmp22 C T 11: 63,049,233 (GRCm39) R159C probably damaging Het
Pou3f1 C T 4: 124,552,764 (GRCm39) A422V unknown Het
Rab11fip3 A G 17: 26,286,956 (GRCm39) L399P probably damaging Het
Rragc A G 4: 123,829,340 (GRCm39) D352G probably damaging Het
Ryr2 A G 13: 11,671,980 (GRCm39) V3420A probably benign Het
Sez6 T A 11: 77,864,082 (GRCm39) Y521* probably null Het
Smc4 T C 3: 68,914,645 (GRCm39) V86A probably damaging Het
Stap2 T A 17: 56,304,790 (GRCm39) M331L probably benign Het
Syt8 G A 7: 141,992,259 (GRCm39) R89H probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Trim21 G T 7: 102,209,183 (GRCm39) T280K probably benign Het
Trim36 C A 18: 46,305,556 (GRCm39) V476F probably benign Het
Troap G T 15: 98,973,511 (GRCm39) R56L probably benign Het
Ttn A T 2: 76,667,130 (GRCm39) I11492K unknown Het
Tuft1 T C 3: 94,521,440 (GRCm39) T390A probably damaging Het
Ucp1 T C 8: 84,020,640 (GRCm39) I150T probably benign Het
Usp17lb A T 7: 104,490,481 (GRCm39) C149S possibly damaging Het
Vmn1r159 A T 7: 22,542,665 (GRCm39) N122K possibly damaging Het
Vmn1r237 T C 17: 21,534,456 (GRCm39) C60R probably damaging Het
Wdr12 A T 1: 60,128,494 (GRCm39) Y85* probably null Het
Wdr3 T C 3: 100,062,252 (GRCm39) D221G probably benign Het
Wdr97 G A 15: 76,244,832 (GRCm39) E1125K Het
Zan T C 5: 137,403,624 (GRCm39) E3974G unknown 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
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
R9647:Gpi1 UTSW 7 33,901,879 (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'- GACATTATCCCACTGACTGCCTG -3'
(R):5'- TGGGTTCCTCTAACAGCCTC -3'

Sequencing Primer
(F):5'- CTTCCTCAGGATTAGAGACTGAATGG -3'
(R):5'- CCTCAGGGCCAAAGAGAGAG -3'
Posted On 2020-01-23