Incidental Mutation 'R1413:Gpi1'
| ID |
159690 |
| 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 |
039469-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1413 (G1)
|
| Quality Score |
131 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
33900755-33929761 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33929580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 20
(N20S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038027]
[ENSMUST00000206415]
[ENSMUST00000205983]
|
| AlphaFold |
P06745 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038027
AA Change: N20S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000049355
Gene: ENSMUSG00000036427
AA Change: N20S
| 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: ENSMUST00000206415
AA Change: N20S
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205983
AA Change: N20S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205940
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206603
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 91.2%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,573,245 (GRCm39) |
N1051D |
possibly damaging |
Het |
| Abcc9 |
A |
G |
6: 142,536,222 (GRCm39) |
V1504A |
probably damaging |
Het |
| Actr6 |
A |
T |
10: 89,564,019 (GRCm39) |
Y84* |
probably null |
Het |
| Adgrl3 |
T |
C |
5: 81,841,366 (GRCm39) |
Y816H |
probably damaging |
Het |
| Ahcyl2 |
T |
C |
6: 29,768,586 (GRCm39) |
|
probably benign |
Het |
| Amd1 |
A |
T |
10: 40,166,404 (GRCm39) |
C157* |
probably null |
Het |
| Ank1 |
G |
A |
8: 23,609,393 (GRCm39) |
E1362K |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,121,391 (GRCm39) |
Q1018R |
probably benign |
Het |
| Atp1a2 |
G |
A |
1: 172,106,911 (GRCm39) |
T803I |
probably damaging |
Het |
| Atr |
T |
G |
9: 95,814,495 (GRCm39) |
L2064R |
probably damaging |
Het |
| Bmp3 |
T |
A |
5: 99,020,264 (GRCm39) |
L229Q |
probably damaging |
Het |
| Ccl25 |
A |
G |
8: 4,403,892 (GRCm39) |
*54W |
probably null |
Het |
| Cdc45 |
A |
T |
16: 18,627,491 (GRCm39) |
N111K |
possibly damaging |
Het |
| Cfap61 |
T |
A |
2: 145,805,363 (GRCm39) |
S154T |
probably benign |
Het |
| Cyp2c37 |
T |
A |
19: 39,982,542 (GRCm39) |
S127T |
probably benign |
Het |
| Cyp4f40 |
T |
A |
17: 32,892,913 (GRCm39) |
D309E |
probably benign |
Het |
| D6Ertd527e |
A |
G |
6: 87,088,335 (GRCm39) |
D166G |
unknown |
Het |
| Dmbt1 |
T |
A |
7: 130,651,944 (GRCm39) |
D395E |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,370,555 (GRCm39) |
S2832G |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Fah |
T |
C |
7: 84,242,420 (GRCm39) |
D296G |
probably damaging |
Het |
| Fam83g |
A |
G |
11: 61,593,504 (GRCm39) |
N346S |
probably damaging |
Het |
| Fgl1 |
T |
A |
8: 41,644,638 (GRCm39) |
T289S |
possibly damaging |
Het |
| Fmo1 |
A |
C |
1: 162,661,431 (GRCm39) |
L284R |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,395,430 (GRCm39) |
M1819K |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,818,762 (GRCm39) |
L4832M |
possibly damaging |
Het |
| Fut1 |
T |
C |
7: 45,268,852 (GRCm39) |
W269R |
probably damaging |
Het |
| Ggnbp2 |
A |
G |
11: 84,723,955 (GRCm39) |
Y638H |
probably damaging |
Het |
| Gp2 |
T |
A |
7: 119,050,853 (GRCm39) |
I293F |
probably benign |
Het |
| Gxylt1 |
C |
T |
15: 93,152,273 (GRCm39) |
R222H |
probably damaging |
Het |
| Hemgn |
T |
C |
4: 46,396,091 (GRCm39) |
K382E |
possibly damaging |
Het |
| Hook3 |
T |
A |
8: 26,528,134 (GRCm39) |
E585D |
probably damaging |
Het |
| Irf6 |
G |
A |
1: 192,851,613 (GRCm39) |
M401I |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,085,529 (GRCm39) |
T2259A |
probably damaging |
Het |
| Lactb |
T |
A |
9: 66,878,201 (GRCm39) |
R209S |
probably damaging |
Het |
| Lonp2 |
A |
G |
8: 87,368,212 (GRCm39) |
D342G |
probably damaging |
Het |
| Mmachc |
T |
C |
4: 116,563,194 (GRCm39) |
S54G |
probably damaging |
Het |
| Mpp7 |
C |
A |
18: 7,350,977 (GRCm39) |
W573C |
probably damaging |
Het |
| Or13e8 |
T |
A |
4: 43,697,011 (GRCm39) |
H54L |
possibly damaging |
Het |
| Or5w1b |
T |
A |
2: 87,476,182 (GRCm39) |
Y95F |
probably benign |
Het |
| Or6b2b |
A |
T |
1: 92,418,610 (GRCm39) |
I289N |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,764,124 (GRCm39) |
D462E |
probably benign |
Het |
| Pcdh12 |
A |
T |
18: 38,416,496 (GRCm39) |
F210I |
probably damaging |
Het |
| Ppp1r12c |
A |
G |
7: 4,487,443 (GRCm39) |
|
probably null |
Het |
| Prkce |
T |
A |
17: 86,803,446 (GRCm39) |
D448E |
possibly damaging |
Het |
| Ptprb |
C |
A |
10: 116,175,584 (GRCm39) |
T1193K |
probably damaging |
Het |
| Qrfpr |
T |
A |
3: 36,236,809 (GRCm39) |
E197D |
possibly damaging |
Het |
| Rusc2 |
T |
A |
4: 43,416,568 (GRCm39) |
C625S |
probably benign |
Het |
| Shcbp1 |
T |
G |
8: 4,791,968 (GRCm39) |
|
probably null |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spag5 |
T |
A |
11: 78,196,143 (GRCm39) |
C449* |
probably null |
Het |
| Stpg3 |
T |
C |
2: 25,103,862 (GRCm39) |
D158G |
probably damaging |
Het |
| Sycp2 |
T |
C |
2: 177,989,590 (GRCm39) |
Y1423C |
probably benign |
Het |
| Tiprl |
C |
T |
1: 165,043,359 (GRCm39) |
E256K |
possibly damaging |
Het |
| Tmem132c |
T |
A |
5: 127,640,631 (GRCm39) |
V934D |
probably damaging |
Het |
| Topors |
A |
G |
4: 40,261,982 (GRCm39) |
V434A |
probably benign |
Het |
| Usp11 |
A |
G |
X: 20,584,946 (GRCm39) |
Y731C |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,513,387 (GRCm39) |
I419L |
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,139,422 (GRCm39) |
R72L |
possibly damaging |
Het |
| Zan |
T |
C |
5: 137,426,201 (GRCm39) |
D2525G |
unknown |
Het |
| Zfp280c |
A |
G |
X: 47,652,715 (GRCm39) |
V285A |
probably benign |
Het |
| Zfp511 |
T |
A |
7: 139,617,528 (GRCm39) |
F177I |
probably damaging |
Het |
| Zfp964 |
A |
G |
8: 70,115,720 (GRCm39) |
M107V |
unknown |
Het |
| Zmynd11 |
A |
G |
13: 9,760,256 (GRCm39) |
Y122H |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCCTAATGACTAAGCAGCCTCG -3'
(R):5'- AGAAGCCAGCCAAGGTTCATCG -3'
Sequencing Primer
(F):5'- CACGCGGGTCCCAAAAC -3'
(R):5'- GCCACACTTGTGTTACAGAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation