Incidental Mutation 'IGL02155:Gpi1'
| ID |
282200 |
| 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 # |
IGL02155
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
33900755-33929761 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 33929614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 9
(Q9K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038027]
[ENSMUST00000205983]
[ENSMUST00000206415]
|
| AlphaFold |
P06745 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038027
AA Change: Q9K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000049355
Gene: ENSMUSG00000036427
AA Change: Q9K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PGI
|
54 |
546 |
1e-265 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126901
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127010
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138773
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180864
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205800
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205983
AA Change: Q9K
PolyPhen 2
Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206415
AA Change: Q9K
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206603
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205940
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
A |
G |
5: 125,583,350 (GRCm39) |
H302R |
probably null |
Het |
| Abi3bp |
A |
T |
16: 56,408,327 (GRCm39) |
H254L |
probably damaging |
Het |
| Adcy3 |
G |
A |
12: 4,262,142 (GRCm39) |
W1064* |
probably null |
Het |
| Arvcf |
C |
T |
16: 18,222,650 (GRCm39) |
P70S |
probably damaging |
Het |
| Ceacam3 |
A |
G |
7: 16,896,906 (GRCm39) |
D624G |
possibly damaging |
Het |
| Cntrl |
T |
A |
2: 35,050,250 (GRCm39) |
|
probably benign |
Het |
| Cyp2a5 |
T |
A |
7: 26,542,471 (GRCm39) |
F491Y |
probably benign |
Het |
| Disp2 |
C |
T |
2: 118,622,285 (GRCm39) |
R1006C |
probably damaging |
Het |
| Dnajc22 |
T |
C |
15: 98,998,886 (GRCm39) |
Y24H |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,153,245 (GRCm39) |
F3656L |
probably benign |
Het |
| Fbxo31 |
A |
G |
8: 122,285,814 (GRCm39) |
F212S |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,828,696 (GRCm39) |
M6831T |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,439,349 (GRCm39) |
S5495C |
probably damaging |
Het |
| Ift74 |
A |
G |
4: 94,567,488 (GRCm39) |
I394V |
probably benign |
Het |
| Kcnh5 |
G |
A |
12: 75,223,312 (GRCm39) |
|
probably benign |
Het |
| Lars2 |
A |
G |
9: 123,284,047 (GRCm39) |
D745G |
probably damaging |
Het |
| Mitd1 |
T |
A |
1: 37,924,356 (GRCm39) |
I65F |
probably benign |
Het |
| Mlxip |
T |
C |
5: 123,591,455 (GRCm39) |
M878T |
probably benign |
Het |
| Mrgpra4 |
T |
C |
7: 47,631,292 (GRCm39) |
Y103C |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,045,806 (GRCm39) |
I1657T |
probably damaging |
Het |
| Or5m11 |
T |
A |
2: 85,782,352 (GRCm39) |
M315K |
probably benign |
Het |
| Orc1 |
T |
A |
4: 108,447,874 (GRCm39) |
D40E |
probably benign |
Het |
| Rnf40 |
T |
C |
7: 127,189,888 (GRCm39) |
|
probably benign |
Het |
| Ro60 |
C |
T |
1: 143,637,007 (GRCm39) |
|
probably null |
Het |
| Sema4d |
A |
G |
13: 51,857,303 (GRCm39) |
V643A |
probably benign |
Het |
| Taf7 |
A |
T |
18: 37,776,564 (GRCm39) |
M1K |
probably null |
Het |
| Tnfsf10 |
A |
T |
3: 27,389,380 (GRCm39) |
D147V |
possibly damaging |
Het |
| Usp45 |
T |
A |
4: 21,798,743 (GRCm39) |
|
probably null |
Het |
| Wdr62 |
T |
C |
7: 29,962,068 (GRCm39) |
D2G |
probably damaging |
Het |
| Zp2 |
T |
A |
7: 119,743,340 (GRCm39) |
I50F |
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 |
|
|
IGL01911:Gpi1
|
APN |
7 |
33,920,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation