Incidental Mutation 'R0019:Gpi1'
| ID |
15613 |
| 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 |
038314-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0019 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
33900755-33929761 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33920324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 144
(Y144H)
|
| 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: Y144H
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000049355
Gene: ENSMUSG00000036427
AA Change: Y144H
| 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
|
| Meta Mutation Damage Score |
0.3240 |
| Coding Region Coverage |
- 1x: 83.5%
- 3x: 78.2%
- 10x: 64.4%
- 20x: 48.4%
|
| Validation Efficiency |
91% (93/102) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd13a |
T |
A |
5: 114,924,142 (GRCm39) |
|
probably benign |
Het |
| Arhgef12 |
A |
T |
9: 42,889,529 (GRCm39) |
W1029R |
probably damaging |
Het |
| Aunip |
T |
A |
4: 134,250,823 (GRCm39) |
L256* |
probably null |
Het |
| Bahcc1 |
T |
A |
11: 120,180,597 (GRCm39) |
M2607K |
probably damaging |
Het |
| Bltp3b |
A |
G |
10: 89,611,831 (GRCm39) |
T5A |
probably damaging |
Het |
| Cacng6 |
G |
T |
7: 3,480,384 (GRCm39) |
M152I |
possibly damaging |
Het |
| Cep120 |
A |
G |
18: 53,842,119 (GRCm39) |
|
probably benign |
Het |
| D130043K22Rik |
T |
A |
13: 25,064,795 (GRCm39) |
V737D |
probably damaging |
Het |
| Dock10 |
A |
G |
1: 80,583,642 (GRCm39) |
S187P |
probably damaging |
Het |
| Eogt |
C |
T |
6: 97,111,234 (GRCm39) |
|
probably benign |
Het |
| Fasn |
A |
T |
11: 120,698,824 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
C |
T |
3: 53,431,099 (GRCm39) |
V2745M |
probably damaging |
Het |
| Fshb |
T |
C |
2: 106,887,690 (GRCm39) |
S110G |
probably benign |
Het |
| Gsap |
T |
C |
5: 21,475,620 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,862,050 (GRCm39) |
|
probably benign |
Het |
| Il1r2 |
C |
T |
1: 40,164,210 (GRCm39) |
T359M |
probably damaging |
Het |
| Il6st |
T |
C |
13: 112,637,682 (GRCm39) |
C563R |
possibly damaging |
Het |
| Irs1 |
T |
A |
1: 82,264,977 (GRCm39) |
K1080* |
probably null |
Het |
| Itpr1 |
T |
C |
6: 108,331,587 (GRCm39) |
V182A |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 34,018,884 (GRCm39) |
|
probably benign |
Het |
| Kcnj11 |
G |
A |
7: 45,748,363 (GRCm39) |
A320V |
probably benign |
Het |
| Lrig1 |
T |
A |
6: 94,584,330 (GRCm39) |
R905* |
probably null |
Het |
| Lrrc43 |
T |
C |
5: 123,639,378 (GRCm39) |
L469P |
probably damaging |
Het |
| Med29 |
A |
T |
7: 28,090,501 (GRCm39) |
|
probably benign |
Het |
| Mroh7 |
T |
C |
4: 106,578,623 (GRCm39) |
I18M |
probably benign |
Het |
| Nalcn |
A |
C |
14: 123,744,901 (GRCm39) |
C376G |
probably benign |
Het |
| Ncor2 |
C |
T |
5: 125,196,545 (GRCm39) |
|
probably null |
Het |
| Nek1 |
T |
A |
8: 61,542,768 (GRCm39) |
M786K |
probably benign |
Het |
| Nrxn2 |
A |
G |
19: 6,559,987 (GRCm39) |
|
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,231,080 (GRCm39) |
I430V |
probably benign |
Het |
| Pcolce2 |
A |
G |
9: 95,577,017 (GRCm39) |
|
probably null |
Het |
| Pdcl |
A |
T |
2: 37,241,932 (GRCm39) |
L273M |
probably damaging |
Het |
| Pml |
A |
T |
9: 58,127,776 (GRCm39) |
S610R |
probably damaging |
Het |
| Polk |
C |
A |
13: 96,641,124 (GRCm39) |
R144S |
probably damaging |
Het |
| Rlf |
A |
G |
4: 121,003,769 (GRCm39) |
V1737A |
possibly damaging |
Het |
| Rubcnl |
T |
A |
14: 75,285,703 (GRCm39) |
|
probably benign |
Het |
| Scn3a |
A |
T |
2: 65,292,045 (GRCm39) |
V1567E |
probably damaging |
Het |
| Scyl2 |
A |
G |
10: 89,495,183 (GRCm39) |
I296T |
probably benign |
Het |
| Slc15a3 |
A |
G |
19: 10,833,404 (GRCm39) |
I474V |
probably damaging |
Het |
| Sstr1 |
T |
C |
12: 58,259,935 (GRCm39) |
L186S |
probably damaging |
Het |
| Tmem108 |
A |
T |
9: 103,366,539 (GRCm39) |
V484D |
possibly damaging |
Het |
| Trim69 |
A |
T |
2: 122,004,958 (GRCm39) |
|
probably null |
Het |
| Trim80 |
T |
G |
11: 115,338,768 (GRCm39) |
Y533D |
probably damaging |
Het |
| Unc13b |
T |
C |
4: 43,096,990 (GRCm39) |
I121T |
possibly damaging |
Het |
| Usp40 |
T |
C |
1: 87,906,133 (GRCm39) |
T701A |
probably benign |
Het |
| Xpr1 |
A |
G |
1: 155,208,145 (GRCm39) |
|
probably benign |
Het |
| Ywhab |
T |
A |
2: 163,858,090 (GRCm39) |
I219N |
probably damaging |
Het |
| Zfp219 |
G |
T |
14: 52,246,485 (GRCm39) |
T169K |
probably damaging |
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 |
|
|
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 |
|
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 |
2012-12-21 |
Incidental Mutation