Incidental Mutation 'R6261:Gpi1'
ID 506698
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 044404-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6261 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 33900755-33929761 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33920170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 168 (T168A)
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 possibly damaging
Transcript: ENSMUST00000038027
AA Change: T168A

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000049355
Gene: ENSMUSG00000036427
AA Change: T168A

DomainStartEndE-ValueType
Pfam:PGI 54 546 1e-265 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180864
Predicted Effect probably benign
Transcript: ENSMUST00000205800
Predicted Effect probably benign
Transcript: ENSMUST00000205983
Predicted Effect probably benign
Transcript: ENSMUST00000206415
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206603
Meta Mutation Damage Score 0.8104 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 100% (65/65)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot8 T C 2: 164,636,979 (GRCm39) D257G probably damaging Het
Adamtsl1 T C 4: 86,255,115 (GRCm39) V736A probably benign Het
Anln A G 9: 22,275,342 (GRCm39) L521S probably damaging Het
Arfgap2 T G 2: 91,100,627 (GRCm39) S311A probably benign Het
Brdt A T 5: 107,496,369 (GRCm39) E160D probably benign Het
Ccdc187 A G 2: 26,166,215 (GRCm39) I738T probably damaging Het
Cd59a G C 2: 103,934,550 (GRCm39) G6A probably damaging Het
Cd5l C T 3: 87,275,915 (GRCm39) P295L probably benign Het
Cdhr17 T C 5: 17,017,183 (GRCm39) noncoding transcript Het
Cnot1 A G 8: 96,468,549 (GRCm39) S1432P probably benign Het
Cnot8 T A 11: 58,004,877 (GRCm39) I192N probably damaging Het
Col4a1 G T 8: 11,257,409 (GRCm39) probably null Het
Cuta A G 17: 27,158,301 (GRCm39) L11P possibly damaging Het
Cyp2c39 G A 19: 39,556,463 (GRCm39) R433H probably damaging Het
Cyp4a12b T A 4: 115,271,740 (GRCm39) Y150* probably null Het
Dcaf15 G A 8: 84,825,734 (GRCm39) A291V probably benign Het
Dcstamp A T 15: 39,618,131 (GRCm39) H180L possibly damaging Het
Egfr A G 11: 16,839,964 (GRCm39) I659M probably benign Het
Fzd8 A G 18: 9,214,598 (GRCm39) E560G possibly damaging Het
Gm5111 A T 6: 48,566,526 (GRCm39) probably benign Het
Gm7945 T C 14: 41,104,780 (GRCm39) T214A unknown Het
Gys2 T C 6: 142,405,134 (GRCm39) I218V probably benign Het
Gzmf T A 14: 56,443,949 (GRCm39) I74L probably benign Het
Hacl1 G A 14: 31,357,728 (GRCm39) A70V probably damaging Het
Herc2 T A 7: 55,846,820 (GRCm39) L3590* probably null Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Igfals G T 17: 25,100,339 (GRCm39) V477F possibly damaging Het
Igkv8-28 A T 6: 70,120,874 (GRCm39) V23E probably benign Het
Isg20l2 T A 3: 87,839,395 (GRCm39) V202E probably damaging Het
Jakmip2 A G 18: 43,708,599 (GRCm39) I288T probably benign Het
Kansl3 A G 1: 36,404,686 (GRCm39) V88A probably benign Het
Kcna3 A G 3: 106,945,266 (GRCm39) T510A possibly damaging Het
Map2k5 G T 9: 63,245,380 (GRCm39) L140I probably benign Het
Map3k19 A G 1: 127,750,336 (GRCm39) I1005T possibly damaging Het
Mmp25 G A 17: 23,849,768 (GRCm39) A541V possibly damaging Het
Ms4a14 T A 19: 11,281,384 (GRCm39) E391D probably benign Het
Mtrf1l A G 10: 5,765,550 (GRCm39) probably null Het
Myom1 A G 17: 71,433,132 (GRCm39) N1591S probably damaging Het
Nos1 G A 5: 118,074,635 (GRCm39) V1060M probably benign Het
Nsun5 C T 5: 135,400,385 (GRCm39) T142M probably damaging Het
Odc1 A G 12: 17,600,655 (GRCm39) E430G probably benign Het
Or8g36 C A 9: 39,422,105 (GRCm39) V304F probably benign Het
P2ry12 T C 3: 59,125,328 (GRCm39) I116V probably null Het
Patl1 T A 19: 11,897,695 (GRCm39) V94E probably damaging Het
Plin3 A T 17: 56,588,488 (GRCm39) Y255* probably null Het
Pou6f1 T C 15: 100,477,827 (GRCm39) T439A probably damaging Het
Prdm13 T C 4: 21,678,366 (GRCm39) K708R probably damaging Het
Prr14l A G 5: 32,986,748 (GRCm39) S916P possibly damaging Het
Rab34 T A 11: 78,082,028 (GRCm39) probably null Het
Rps7 A G 12: 28,685,593 (GRCm39) S21P possibly damaging Het
Scn9a A T 2: 66,314,240 (GRCm39) L1815Q probably damaging Het
Sesn3 A G 9: 14,232,459 (GRCm39) Y244C probably benign Het
Slc15a2 A G 16: 36,581,973 (GRCm39) F284L probably benign Het
Slc25a44 C T 3: 88,328,218 (GRCm39) G72D probably damaging Het
Slco6d1 A G 1: 98,427,588 (GRCm39) T640A probably benign Het
Sspo A T 6: 48,439,125 (GRCm39) E1591V possibly damaging Het
Tbata C A 10: 61,011,644 (GRCm39) T60K possibly damaging Het
Tbc1d2 T A 4: 46,637,692 (GRCm39) T185S possibly damaging Het
Tlcd4 T A 3: 121,028,708 (GRCm39) I60F possibly damaging Het
Tmem87a A G 2: 120,234,502 (GRCm39) S14P possibly damaging Het
Tnnt2 C A 1: 135,778,292 (GRCm39) probably null Het
Trex1 A G 9: 108,887,709 (GRCm39) V94A probably benign Het
Ubtfl1 A C 9: 18,320,592 (GRCm39) D40A possibly damaging Het
Zc3hav1 A T 6: 38,309,935 (GRCm39) Y296N probably benign Het
Zfp521 T A 18: 13,977,684 (GRCm39) N910Y probably damaging Het
Zfp53 A G 17: 21,728,975 (GRCm39) E336G possibly 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
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
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'- AGCTGTGCTAACCAGATCCAC -3'
(R):5'- ATCTGCTTCTGTGACAGCGG -3'

Sequencing Primer
(F):5'- TGACACTCCATTGCCCAGG -3'
(R):5'- TTCTGTGACAGCGGGTCCG -3'
Posted On 2018-03-15