Incidental Mutation 'R8485:Gpi1'
| ID |
668184 |
| 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 |
067928-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8485 (G1)
|
| Quality Score |
80.0075 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
33900755-33929761 bp(-) (GRCm39) |
| Type of Mutation |
splice site (9699 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 33918677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038027]
[ENSMUST00000205983]
[ENSMUST00000206415]
|
| AlphaFold |
P06745 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038027
|
| SMART Domains |
Protein: ENSMUSP00000049355
Gene: ENSMUSG00000036427
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PGI
|
54 |
546 |
1e-265 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205800
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205983
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206415
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (59/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
A |
G |
3: 97,066,302 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
T |
C |
13: 70,886,794 (GRCm39) |
T999A |
possibly damaging |
Het |
| Adgrb1 |
A |
C |
15: 74,420,153 (GRCm39) |
T829P |
probably damaging |
Het |
| Ankrd12 |
C |
T |
17: 66,290,711 (GRCm39) |
S1574N |
probably benign |
Het |
| Ankrd2 |
G |
A |
19: 42,030,384 (GRCm39) |
|
probably null |
Het |
| Ano3 |
T |
A |
2: 110,498,200 (GRCm39) |
|
probably null |
Het |
| Arhgap18 |
T |
C |
10: 26,722,104 (GRCm39) |
I25T |
probably benign |
Het |
| Armc3 |
T |
C |
2: 19,297,945 (GRCm39) |
F572S |
probably damaging |
Het |
| Aspdh |
G |
T |
7: 44,117,093 (GRCm39) |
G165W |
probably damaging |
Het |
| Btnl10 |
G |
T |
11: 58,811,142 (GRCm39) |
R155L |
possibly damaging |
Het |
| Cacng7 |
A |
G |
7: 3,414,541 (GRCm39) |
E168G |
probably benign |
Het |
| Cadps |
G |
A |
14: 12,439,872 (GRCm38) |
T1215M |
probably damaging |
Het |
| Cbfa2t3 |
C |
A |
8: 123,357,517 (GRCm39) |
G598C |
probably damaging |
Het |
| Cdh15 |
T |
C |
8: 123,584,105 (GRCm39) |
S69P |
probably damaging |
Het |
| Cwc27 |
G |
T |
13: 104,940,772 (GRCm39) |
P196T |
probably benign |
Het |
| Cwc27 |
C |
A |
13: 104,940,776 (GRCm39) |
L194F |
possibly damaging |
Het |
| Dlec1 |
T |
G |
9: 118,957,659 (GRCm39) |
V881G |
probably benign |
Het |
| Dnah7c |
A |
C |
1: 46,719,952 (GRCm39) |
D2801A |
probably benign |
Het |
| Efhc1 |
T |
C |
1: 21,030,460 (GRCm39) |
M131T |
possibly damaging |
Het |
| Ercc2 |
G |
A |
7: 19,122,165 (GRCm39) |
V386I |
possibly damaging |
Het |
| Exoc4 |
T |
A |
6: 33,898,436 (GRCm39) |
I885N |
probably damaging |
Het |
| Fbxl22 |
C |
T |
9: 66,421,849 (GRCm39) |
|
probably null |
Het |
| Flii |
G |
T |
11: 60,607,063 (GRCm39) |
A971E |
probably benign |
Het |
| Fnip2 |
T |
A |
3: 79,388,844 (GRCm39) |
E599V |
probably benign |
Het |
| Glb1l2 |
G |
A |
9: 26,679,036 (GRCm39) |
L453F |
probably benign |
Het |
| Gm49368 |
C |
T |
7: 127,711,611 (GRCm39) |
P624L |
probably damaging |
Het |
| Gpa33 |
T |
A |
1: 165,992,261 (GRCm39) |
D268E |
probably benign |
Het |
| Iqgap2 |
T |
C |
13: 95,796,659 (GRCm39) |
N1165S |
probably damaging |
Het |
| Irag2 |
A |
T |
6: 145,117,400 (GRCm39) |
N379I |
probably damaging |
Het |
| Kctd2 |
G |
T |
11: 115,320,434 (GRCm39) |
|
probably benign |
Het |
| L1td1 |
C |
T |
4: 98,625,911 (GRCm39) |
A702V |
probably damaging |
Het |
| Lrp1 |
G |
A |
10: 127,394,519 (GRCm39) |
R2565C |
probably damaging |
Het |
| Mycbpap |
A |
G |
11: 94,402,534 (GRCm39) |
L267P |
probably damaging |
Het |
| Mycbpap |
T |
C |
11: 94,405,359 (GRCm39) |
R57G |
probably benign |
Het |
| Myo1b |
A |
C |
1: 51,818,760 (GRCm39) |
L505R |
probably damaging |
Het |
| Nfatc2 |
A |
C |
2: 168,432,012 (GRCm39) |
F34V |
probably damaging |
Het |
| Nphs1 |
A |
G |
7: 30,165,598 (GRCm39) |
N655S |
probably damaging |
Het |
| Nsd2 |
A |
T |
5: 34,040,189 (GRCm39) |
I909F |
probably damaging |
Het |
| Or10ag60 |
A |
T |
2: 87,438,601 (GRCm39) |
M290L |
probably benign |
Het |
| Or8b37 |
T |
A |
9: 37,959,253 (GRCm39) |
M245K |
probably benign |
Het |
| Pak2 |
G |
A |
16: 31,871,083 (GRCm39) |
A33V |
probably benign |
Het |
| Phb1 |
A |
G |
11: 95,566,055 (GRCm39) |
D113G |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,593,257 (GRCm39) |
I1619F |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,423,796 (GRCm39) |
I3113V |
probably damaging |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Prrc2b |
T |
A |
2: 32,102,105 (GRCm39) |
M726K |
possibly damaging |
Het |
| Rai14 |
A |
G |
15: 10,575,122 (GRCm39) |
L612P |
probably damaging |
Het |
| Rapgef1 |
T |
C |
2: 29,600,186 (GRCm39) |
S598P |
probably damaging |
Het |
| Rdm1 |
G |
A |
11: 101,518,816 (GRCm39) |
V8I |
probably benign |
Het |
| Rrbp1 |
A |
G |
2: 143,796,933 (GRCm39) |
F1148L |
probably benign |
Het |
| Slc12a2 |
T |
C |
18: 58,074,218 (GRCm39) |
|
probably null |
Het |
| Slc7a8 |
T |
A |
14: 54,962,264 (GRCm39) |
T457S |
probably benign |
Het |
| Stk32a |
T |
A |
18: 43,376,075 (GRCm39) |
M48K |
possibly damaging |
Het |
| Svil |
T |
C |
18: 5,064,566 (GRCm39) |
S642P |
probably benign |
Het |
| Taok3 |
G |
A |
5: 117,389,142 (GRCm39) |
V516M |
possibly damaging |
Het |
| Ugdh |
T |
C |
5: 65,584,902 (GRCm39) |
I7V |
possibly damaging |
Het |
| Zc3h11a |
T |
A |
1: 133,553,633 (GRCm39) |
S504C |
possibly damaging |
Het |
| Zfp512 |
C |
T |
5: 31,637,401 (GRCm39) |
R497W |
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 |
|
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 |
|
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'- CTGCATTGGTGATGGTCTCC -3'
(R):5'- GCCTTGGCTTGATAACATAAGGG -3'
Sequencing Primer
(F):5'- CTCCTGGGTGGTGAAGGTC -3'
(R):5'- TAATGAGAAGTCCATCTGAGGTC -3'
|
| Posted On |
2021-03-24 |
Incidental Mutation