Incidental Mutation 'R2510:Gpi1'
ID 251954
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 040416-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2510 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 33900755-33929761 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33905348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 359 (S359P)
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: S359P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049355
Gene: ENSMUSG00000036427
AA Change: S359P

DomainStartEndE-ValueType
Pfam:PGI 54 546 1e-265 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135243
Predicted Effect probably benign
Transcript: ENSMUST00000205800
Predicted Effect probably benign
Transcript: ENSMUST00000205865
Predicted Effect silent
Transcript: ENSMUST00000205870
Predicted Effect probably benign
Transcript: ENSMUST00000205983
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206232
Predicted Effect probably benign
Transcript: ENSMUST00000206415
Meta Mutation Damage Score 0.9749 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency 99% (77/78)
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
4930571K23Rik C A 7: 124,968,311 (GRCm39) noncoding transcript Het
Adra1d C A 2: 131,404,055 (GRCm39) E12* probably null Het
Ago4 A T 4: 126,410,864 (GRCm39) D208E probably damaging Het
Agrn A T 4: 156,250,881 (GRCm39) probably null Het
Atxn2 C T 5: 121,919,456 (GRCm39) S388L probably damaging Het
Bbox1 A T 2: 110,135,976 (GRCm39) M1K probably null Het
Btaf1 G A 19: 36,979,845 (GRCm39) R1538H probably benign Het
Car11 G A 7: 45,350,783 (GRCm39) G93E probably damaging Het
Col18a1 A G 10: 76,932,102 (GRCm39) L329P unknown Het
Copb2 T A 9: 98,453,701 (GRCm39) probably benign Het
Cracdl T C 1: 37,664,381 (GRCm39) M506V probably benign Het
Dnah2 G T 11: 69,415,032 (GRCm39) S234* probably null Het
Dnah9 T C 11: 65,895,995 (GRCm39) Y2460C probably damaging Het
Dnai2 G C 11: 114,647,993 (GRCm39) probably benign Het
Dst C A 1: 34,251,367 (GRCm39) T1814K probably benign Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Fancm A T 12: 65,160,544 (GRCm39) probably benign Het
Fsip2 T C 2: 82,816,782 (GRCm39) S4172P probably benign Het
G530012D18Rik T G 1: 85,504,925 (GRCm39) probably benign Het
Gca T G 2: 62,520,318 (GRCm39) S159R probably damaging Het
Gja8 T G 3: 96,827,033 (GRCm39) T210P probably damaging Het
Gm5117 T A 8: 32,228,383 (GRCm39) noncoding transcript Het
Gm5900 T A 7: 104,599,571 (GRCm39) noncoding transcript Het
Grm5 A G 7: 87,685,299 (GRCm39) E472G probably benign Het
Gsta5 T A 9: 78,202,089 (GRCm39) M1K probably null Het
Hoxd12 G A 2: 74,505,815 (GRCm39) A129T possibly damaging Het
Ifnlr1 G T 4: 135,432,559 (GRCm39) D332Y probably damaging Het
Ift140 T C 17: 25,255,282 (GRCm39) I466T probably benign Het
Kansl2 A G 15: 98,426,742 (GRCm39) probably null Het
Kat2a T C 11: 100,602,968 (GRCm39) Q88R probably benign Het
Kcnh7 T C 2: 62,552,261 (GRCm39) D910G probably benign Het
Klk1b1 T C 7: 43,618,803 (GRCm39) V60A probably damaging Het
Krt7 A C 15: 101,310,538 (GRCm39) I62L probably benign Het
Llgl1 A G 11: 60,600,862 (GRCm39) K653E probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Maco1 A G 4: 134,531,699 (GRCm39) S657P probably damaging Het
Mafb T G 2: 160,208,496 (GRCm39) E34A probably damaging Het
Meiob T C 17: 25,035,571 (GRCm39) probably benign Het
Mllt10 C A 2: 18,069,935 (GRCm39) D30E possibly damaging Het
Mprip T A 11: 59,640,334 (GRCm39) probably benign Het
Muc5b A T 7: 141,412,798 (GRCm39) N1915Y unknown Het
Mycbp2 C T 14: 103,392,691 (GRCm39) R3290Q probably damaging Het
Ntaq1 C A 15: 58,017,020 (GRCm39) A145D probably damaging Het
Obscn G A 11: 58,933,140 (GRCm39) probably benign Het
Olfm3 T A 3: 114,915,959 (GRCm39) V277D probably damaging Het
Omp A T 7: 97,794,552 (GRCm39) M25K possibly damaging Het
Or10d4b T A 9: 39,534,727 (GRCm39) F101I probably damaging Het
Or4b12 C T 2: 90,095,950 (GRCm39) V275I probably damaging Het
Or4k40 G A 2: 111,250,796 (GRCm39) P167S possibly damaging Het
Or52n2c G A 7: 104,574,894 (GRCm39) H26Y probably benign Het
Otoa C T 7: 120,759,695 (GRCm39) T1099I probably benign Het
Pcdh15 T G 10: 74,467,331 (GRCm39) S1715A probably benign Het
Pcnx4 T C 12: 72,613,746 (GRCm39) W564R probably damaging Het
Pde12 T C 14: 26,386,681 (GRCm39) *609W probably null Het
Pitpnm2 T C 5: 124,274,389 (GRCm39) E240G probably damaging Het
Plppr4 G T 3: 117,125,355 (GRCm39) N161K probably damaging Het
Ppp1r37 T C 7: 19,266,357 (GRCm39) K470E possibly damaging Het
Pramel27 G A 4: 143,578,561 (GRCm39) V274I probably benign Het
Ptprd C A 4: 76,004,248 (GRCm39) probably null Het
Rgs9 T C 11: 109,159,798 (GRCm39) Y178C probably benign Het
Rims2 T G 15: 39,449,048 (GRCm39) S1217R probably damaging Het
Rorc C T 3: 94,296,427 (GRCm39) T208I probably benign Het
Ryr3 C T 2: 112,506,249 (GRCm39) E3458K probably benign Het
Scn5a A T 9: 119,362,751 (GRCm39) V623E probably benign Het
Slc28a2 C T 2: 122,281,497 (GRCm39) Q229* probably null Het
Slc35f3 C T 8: 127,025,445 (GRCm39) probably benign Het
Spg11 T G 2: 121,905,791 (GRCm39) I1285L probably benign Het
Sstr2 A T 11: 113,515,749 (GRCm39) I223F probably damaging Het
Susd1 A T 4: 59,349,855 (GRCm39) V527E possibly damaging Het
Tas1r2 A G 4: 139,387,162 (GRCm39) N207S probably damaging Het
Trappc10 A G 10: 78,047,357 (GRCm39) S380P possibly damaging Het
Ttn T C 2: 76,571,336 (GRCm39) D26519G probably damaging Het
Vmn1r215 A G 13: 23,260,343 (GRCm39) I128V probably benign Het
Vmn1r37 T C 6: 66,708,935 (GRCm39) L150P probably damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vmn2r52 G T 7: 9,904,795 (GRCm39) A348E probably benign Het
Ypel5 T C 17: 73,153,386 (GRCm39) L30P probably damaging Het
Zfp985 A G 4: 147,667,443 (GRCm39) T104A 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
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
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'- AGTCCATGGAAGCTACCCAAG -3'
(R):5'- TCGTGGTCCTTACAGTAGTCTTTAG -3'

Sequencing Primer
(F):5'- GCCACTACCCTAAGCAGGAGG -3'
(R):5'- CCTTACAGTAGTCTTTAGCAGAAAGC -3'
Posted On 2014-12-04