Incidental Mutation 'IGL01911:Gpi1'
| ID |
179795 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01911
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
33900755-33929761 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33920347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 136
(V136D)
|
| 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: V136D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049355
Gene: ENSMUSG00000036427
AA Change: V136D
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| Coding Region Coverage |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox3 |
T |
C |
1: 58,191,719 (GRCm39) |
F424L |
probably benign |
Het |
| Arhgap11a |
T |
C |
2: 113,671,077 (GRCm39) |
T301A |
probably damaging |
Het |
| Atp9a |
C |
A |
2: 168,495,481 (GRCm39) |
R575L |
probably damaging |
Het |
| Brca2 |
G |
A |
5: 150,491,078 (GRCm39) |
D3088N |
probably damaging |
Het |
| Brd3 |
G |
A |
2: 27,349,812 (GRCm39) |
T247I |
probably damaging |
Het |
| Btbd8 |
A |
G |
5: 107,656,446 (GRCm39) |
H903R |
probably damaging |
Het |
| Cacna1i |
A |
G |
15: 80,275,933 (GRCm39) |
N1908S |
probably benign |
Het |
| Ccdc40 |
A |
T |
11: 119,122,797 (GRCm39) |
|
probably null |
Het |
| Cdyl |
T |
C |
13: 36,047,226 (GRCm39) |
V389A |
probably damaging |
Het |
| Col28a1 |
A |
G |
6: 8,014,963 (GRCm39) |
F814S |
probably damaging |
Het |
| Cstf3 |
T |
C |
2: 104,476,976 (GRCm39) |
F149S |
probably damaging |
Het |
| Dglucy |
T |
C |
12: 100,804,784 (GRCm39) |
Y122H |
probably damaging |
Het |
| Dram1 |
T |
C |
10: 88,161,203 (GRCm39) |
D222G |
probably damaging |
Het |
| Ets2 |
G |
A |
16: 95,512,802 (GRCm39) |
R96H |
probably damaging |
Het |
| Gm11563 |
T |
A |
11: 99,549,527 (GRCm39) |
R76* |
probably null |
Het |
| Gm17093 |
A |
C |
14: 44,758,277 (GRCm39) |
|
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hfm1 |
G |
A |
5: 107,059,410 (GRCm39) |
T204M |
possibly damaging |
Het |
| Itgae |
T |
C |
11: 73,006,963 (GRCm39) |
I403T |
probably damaging |
Het |
| Krt75 |
A |
T |
15: 101,476,537 (GRCm39) |
D409E |
probably damaging |
Het |
| Limk2 |
T |
G |
11: 3,305,340 (GRCm39) |
T76P |
probably benign |
Het |
| Mtus2 |
A |
T |
5: 148,015,030 (GRCm39) |
M608L |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,899,421 (GRCm39) |
E979* |
probably null |
Het |
| Or52ab7 |
T |
G |
7: 102,978,480 (GRCm39) |
F262L |
probably benign |
Het |
| P2rx7 |
C |
T |
5: 122,796,831 (GRCm39) |
A166V |
probably damaging |
Het |
| Pomgnt2 |
T |
C |
9: 121,811,854 (GRCm39) |
E309G |
probably benign |
Het |
| Sbno2 |
A |
T |
10: 79,905,458 (GRCm39) |
Y199* |
probably null |
Het |
| Setd2 |
C |
A |
9: 110,446,499 (GRCm39) |
|
probably null |
Het |
| Slc66a1 |
A |
G |
4: 139,028,384 (GRCm39) |
V186A |
probably benign |
Het |
| Vmn2r84 |
T |
A |
10: 130,222,277 (GRCm39) |
I648F |
probably damaging |
Het |
| Vrtn |
C |
T |
12: 84,696,980 (GRCm39) |
R577W |
probably benign |
Het |
| Znhit6 |
A |
G |
3: 145,283,853 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gpi1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00662:Gpi1
|
APN |
7 |
33,915,375 (GRCm39) |
intron |
probably benign |
|
|
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 |
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation