Incidental Mutation 'R2435:Gpi1'
| ID |
249546 |
| 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 |
040396-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2435 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
33900755-33929761 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 33905254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 390
(A390V)
|
| 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: A390V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049355
Gene: ENSMUSG00000036427
AA Change: A390V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PGI
|
54 |
546 |
1e-265 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135243
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000205800
AA Change: A22V
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205865
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000205870
AA Change: H73Y
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205983
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206232
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206415
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
C |
T |
19: 31,898,294 (GRCm39) |
T226I |
probably benign |
Het |
| Acvr1 |
T |
C |
2: 58,369,704 (GRCm39) |
N102D |
probably damaging |
Het |
| Cd34 |
T |
A |
1: 194,621,334 (GRCm39) |
C21S |
probably damaging |
Het |
| Cdh18 |
C |
T |
15: 23,367,094 (GRCm39) |
R267W |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,411,490 (GRCm39) |
N966K |
probably benign |
Het |
| Clec4e |
A |
G |
6: 123,265,855 (GRCm39) |
V44A |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,323,083 (GRCm39) |
N2828I |
probably damaging |
Het |
| Dnah10 |
G |
T |
5: 124,839,929 (GRCm39) |
|
probably null |
Het |
| Fshr |
A |
T |
17: 89,508,024 (GRCm39) |
V6D |
unknown |
Het |
| Gcc2 |
A |
G |
10: 58,130,602 (GRCm39) |
D1398G |
probably damaging |
Het |
| Gypa |
G |
T |
8: 81,233,397 (GRCm39) |
|
probably null |
Het |
| Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
| Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
| Ifna13 |
T |
A |
4: 88,562,366 (GRCm39) |
Q86L |
probably damaging |
Het |
| Itgae |
T |
A |
11: 73,012,763 (GRCm39) |
C698* |
probably null |
Het |
| Ivns1abp |
T |
C |
1: 151,239,061 (GRCm39) |
V625A |
probably benign |
Het |
| Kcnh2 |
A |
G |
5: 24,531,345 (GRCm39) |
|
probably null |
Het |
| Kcnj6 |
G |
A |
16: 94,563,538 (GRCm39) |
T320M |
probably damaging |
Het |
| Mblac2 |
T |
C |
13: 81,898,368 (GRCm39) |
I248T |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,371,841 (GRCm39) |
Y2647F |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or4k15 |
T |
C |
14: 50,364,211 (GRCm39) |
M59T |
probably damaging |
Het |
| Or6c217 |
G |
T |
10: 129,738,173 (GRCm39) |
N135K |
possibly damaging |
Het |
| Pard3b |
T |
A |
1: 62,626,897 (GRCm39) |
V1059E |
probably damaging |
Het |
| Pkd1l3 |
A |
C |
8: 110,377,334 (GRCm39) |
I1585L |
probably benign |
Het |
| Pramel31 |
A |
T |
4: 144,089,473 (GRCm39) |
I264F |
possibly damaging |
Het |
| Prrc2b |
A |
T |
2: 32,109,741 (GRCm39) |
S1791C |
probably damaging |
Het |
| Rbmxl2 |
C |
A |
7: 106,809,538 (GRCm39) |
S274R |
probably damaging |
Het |
| Serpini2 |
T |
C |
3: 75,165,475 (GRCm39) |
E168G |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sis |
A |
G |
3: 72,819,237 (GRCm39) |
S1440P |
probably benign |
Het |
| Snrnp40 |
A |
G |
4: 130,278,344 (GRCm39) |
H283R |
probably damaging |
Het |
| Tcaf2 |
G |
T |
6: 42,607,298 (GRCm39) |
Q219K |
possibly damaging |
Het |
| Tenm3 |
C |
T |
8: 48,740,988 (GRCm39) |
R803H |
probably damaging |
Het |
| Ugt2b5 |
T |
C |
5: 87,287,465 (GRCm39) |
D234G |
probably damaging |
Het |
| Unc13d |
A |
G |
11: 115,959,514 (GRCm39) |
F653S |
probably damaging |
Het |
| Unc93b1 |
A |
G |
19: 3,986,373 (GRCm39) |
I136V |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,656,753 (GRCm39) |
S151P |
possibly damaging |
Het |
| Vmn2r50 |
C |
A |
7: 9,787,026 (GRCm39) |
W27L |
probably benign |
Het |
| Zan |
T |
C |
5: 137,436,836 (GRCm39) |
S2006G |
unknown |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAGGGGACAATAGTCATCC -3'
(R):5'- GCCTGAGAACCCACATTTACAG -3'
Sequencing Primer
(F):5'- GGGGACAATAGTCATCCATACAAC -3'
(R):5'- TGAAGCTGATTCAGGCACC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation