Incidental Mutation 'R3408:Gpi1'
ID 258371
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 040626-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3408 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 33900755-33929761 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33902104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 500 (V500A)
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: V500A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000049355
Gene: ENSMUSG00000036427
AA Change: V500A

DomainStartEndE-ValueType
Pfam:PGI 54 546 1e-265 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135243
Predicted Effect unknown
Transcript: ENSMUST00000205800
AA Change: V132A
Predicted Effect probably benign
Transcript: ENSMUST00000205865
Predicted Effect probably benign
Transcript: ENSMUST00000205870
Predicted Effect probably benign
Transcript: ENSMUST00000205983
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206232
Predicted Effect probably benign
Transcript: ENSMUST00000206415
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 89.1%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430550D23Rik C T 2: 155,845,840 (GRCm39) V6I probably benign Het
Adam17 T A 12: 21,379,119 (GRCm39) K643N probably damaging Het
Adgrg4 A T X: 56,013,487 (GRCm39) I2838F probably damaging Het
Aox1 G A 1: 58,382,827 (GRCm39) V1036I probably benign Het
Bag3 AAAGG AAAGGAAGG 7: 128,147,493 (GRCm39) probably null Het
Cacnb3 T C 15: 98,539,068 (GRCm39) V167A probably benign Het
Clasrp C A 7: 19,319,165 (GRCm39) probably benign Het
E2f7 C T 10: 110,620,578 (GRCm39) T865M possibly damaging Het
Eef2 GCCC GCCCC 10: 81,014,601 (GRCm39) probably null Het
Ephb3 T A 16: 21,038,254 (GRCm39) Y341N probably damaging Het
Frem1 A T 4: 82,930,223 (GRCm39) V241E probably damaging Het
Ilk A T 7: 105,390,181 (GRCm39) M155L probably benign Het
Ipo8 T C 6: 148,723,207 (GRCm39) D70G probably benign Het
Macf1 T C 4: 123,275,574 (GRCm39) Q6283R probably damaging Het
Mfsd1 T A 3: 67,504,046 (GRCm39) M346K possibly damaging Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Myo7a A T 7: 97,730,294 (GRCm39) F758Y probably benign Het
Nalcn T A 14: 123,834,029 (GRCm39) S49C probably null Het
Ncan G A 8: 70,564,801 (GRCm39) T271I probably damaging Het
Nr5a2 C T 1: 136,868,236 (GRCm39) A299T probably benign Het
Or10ag60 A T 2: 87,438,220 (GRCm39) I163L probably benign Het
Or4g16 A T 2: 111,136,850 (GRCm39) Q100L probably damaging Het
Or51q1c G T 7: 103,652,550 (GRCm39) E23* probably null Het
Or9s23 A G 1: 92,501,675 (GRCm39) T261A probably damaging Het
Piwil4 T C 9: 14,637,259 (GRCm39) T352A probably damaging Het
Plch1 A G 3: 63,606,768 (GRCm39) probably benign Het
Plekhg5 A G 4: 152,192,749 (GRCm39) T559A probably damaging Het
Rfx2 G T 17: 57,110,526 (GRCm39) D153E probably benign Het
Sh3bp4 G T 1: 89,072,769 (GRCm39) C539F possibly damaging Het
Slco1b2 A T 6: 141,621,982 (GRCm39) H479L probably benign Het
Spmip9 C T 6: 70,892,690 (GRCm39) S19N possibly damaging Het
Tmem150b G T 7: 4,727,339 (GRCm39) F55L probably damaging Het
Vmn1r60 A T 7: 5,548,148 (GRCm39) probably null Het
Vmn2r80 C T 10: 79,004,227 (GRCm39) L147F possibly damaging Het
Vps50 A T 6: 3,600,212 (GRCm39) K890N probably damaging 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
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
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'- AGCTGATCAGTCCGTTAGTGG -3'
(R):5'- AAGCTGACACCCTTCATTCTG -3'

Sequencing Primer
(F):5'- ATCAGTCCGTTAGTGGAGGAATC -3'
(R):5'- CCTTCATTCTGGGGGCCTTG -3'
Posted On 2015-01-23