Incidental Mutation 'R6835:Gpi1'
| ID |
534392 |
| 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 |
044944-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6835 (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 33926563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 128
(K128E)
|
| 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: K128E
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000049355
Gene: ENSMUSG00000036427
AA Change: K128E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PGI
|
54 |
546 |
1e-265 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205800
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205983
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206415
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (44/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
A |
G |
9: 107,807,761 (GRCm39) |
R695G |
probably benign |
Het |
| Arhgef4 |
A |
G |
1: 34,845,574 (GRCm39) |
H1533R |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,949,499 (GRCm39) |
L3120P |
probably damaging |
Het |
| Cfap46 |
T |
A |
7: 139,232,414 (GRCm39) |
I850F |
probably damaging |
Het |
| Crym |
A |
C |
7: 119,785,868 (GRCm39) |
S311A |
probably benign |
Het |
| Cttn |
T |
C |
7: 144,010,234 (GRCm39) |
|
probably null |
Het |
| Dtnb |
C |
T |
12: 3,682,841 (GRCm39) |
|
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,831,360 (GRCm39) |
V607A |
probably benign |
Het |
| Etfa |
A |
G |
9: 55,403,103 (GRCm39) |
V64A |
probably benign |
Het |
| Fam133b |
A |
G |
5: 3,604,732 (GRCm39) |
T40A |
possibly damaging |
Het |
| Fmn2 |
C |
A |
1: 174,527,235 (GRCm39) |
D1442E |
probably damaging |
Het |
| Gpr179 |
A |
T |
11: 97,238,293 (GRCm39) |
F310L |
probably damaging |
Het |
| Hdac7 |
T |
A |
15: 97,700,628 (GRCm39) |
H531L |
probably damaging |
Het |
| Hfm1 |
G |
A |
5: 107,026,681 (GRCm39) |
R145* |
probably null |
Het |
| Hsp90b1 |
A |
T |
10: 86,529,949 (GRCm39) |
D573E |
probably damaging |
Het |
| Hunk |
T |
G |
16: 90,269,412 (GRCm39) |
W243G |
probably damaging |
Het |
| Icam1 |
G |
T |
9: 20,938,421 (GRCm39) |
G327W |
possibly damaging |
Het |
| Ino80d |
C |
A |
1: 63,113,485 (GRCm39) |
A322S |
probably benign |
Het |
| Irag1 |
T |
G |
7: 110,520,541 (GRCm39) |
E278A |
probably damaging |
Het |
| Itpkc |
A |
C |
7: 26,927,240 (GRCm39) |
S225A |
probably benign |
Het |
| Krt75 |
C |
T |
15: 101,479,472 (GRCm39) |
R286Q |
probably benign |
Het |
| Lmnb2 |
A |
G |
10: 80,745,794 (GRCm39) |
L95P |
probably damaging |
Het |
| Mns1 |
T |
C |
9: 72,360,026 (GRCm39) |
M392T |
probably damaging |
Het |
| Morc3 |
A |
T |
16: 93,644,309 (GRCm39) |
N200I |
probably damaging |
Het |
| Myadm |
T |
C |
7: 3,346,192 (GRCm39) |
V318A |
possibly damaging |
Het |
| Nt5dc1 |
A |
C |
10: 34,186,375 (GRCm39) |
S398A |
probably benign |
Het |
| Or13c7 |
T |
C |
4: 43,854,912 (GRCm39) |
V201A |
probably benign |
Het |
| Or1e31 |
A |
G |
11: 73,690,061 (GRCm39) |
I174T |
possibly damaging |
Het |
| Pcdhga2 |
T |
C |
18: 37,803,842 (GRCm39) |
I562T |
probably damaging |
Het |
| Pcdhgb1 |
T |
A |
18: 37,813,553 (GRCm39) |
C15S |
probably benign |
Het |
| Pikfyve |
T |
G |
1: 65,298,002 (GRCm39) |
L1532R |
probably damaging |
Het |
| Rdh7 |
T |
A |
10: 127,720,608 (GRCm39) |
T255S |
probably benign |
Het |
| Rtel1 |
A |
G |
2: 180,997,746 (GRCm39) |
T1165A |
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,720,874 (GRCm39) |
A1352T |
probably damaging |
Het |
| Strip2 |
T |
C |
6: 29,941,916 (GRCm39) |
S629P |
probably damaging |
Het |
| Taf5 |
A |
G |
19: 47,065,776 (GRCm39) |
T494A |
possibly damaging |
Het |
| Tek |
T |
G |
4: 94,741,671 (GRCm39) |
N809K |
possibly damaging |
Het |
| Tmbim7 |
A |
T |
5: 3,711,943 (GRCm39) |
T63S |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,603,508 (GRCm39) |
L624Q |
probably damaging |
Het |
| Xbp1 |
A |
G |
11: 5,471,809 (GRCm39) |
|
probably benign |
Het |
| Zbp1 |
T |
A |
2: 173,055,704 (GRCm39) |
|
probably null |
Het |
| Zfp112 |
T |
C |
7: 23,825,231 (GRCm39) |
C400R |
probably damaging |
Het |
| Zfp202 |
C |
T |
9: 40,121,531 (GRCm39) |
|
probably null |
Het |
| Zfp747 |
T |
C |
7: 126,973,219 (GRCm39) |
E317G |
possibly 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 |
|
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 |
|
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'- AGGGAAATTCAGGTCTCAGC -3'
(R):5'- AATGGATGCCTGGACCTGTTTG -3'
Sequencing Primer
(F):5'- CTCAGCAGAGAGAGCAGGGTC -3'
(R):5'- AGGACTGCCTTACACTGGAC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation