Incidental Mutation 'R6016:Gne'
| ID |
478594 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gne
|
| Ensembl Gene |
ENSMUSG00000028479 |
| Gene Name |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
| Synonyms |
2310066H07Rik |
| MMRRC Submission |
043255-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6016 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
44034075-44084177 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44039063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 532
(E532G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030201]
[ENSMUST00000102936]
[ENSMUST00000172533]
[ENSMUST00000173234]
|
| AlphaFold |
Q91WG8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030201
AA Change: E637G
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000030201
Gene: ENSMUSG00000028479
AA Change: E637G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Epimerase_2
|
63 |
406 |
2.3e-69 |
PFAM |
|
Pfam:ROK
|
440 |
747 |
1.4e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102936
AA Change: E606G
PolyPhen 2
Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000100000
Gene: ENSMUSG00000028479
AA Change: E606G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Epimerase_2
|
32 |
375 |
5.1e-75 |
PFAM |
|
Pfam:ROK
|
411 |
596 |
6.5e-44 |
PFAM |
|
low complexity region
|
685 |
707 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172533
|
| SMART Domains |
Protein: ENSMUSP00000134040
Gene: ENSMUSG00000028479
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Epimerase_2
|
32 |
375 |
1.6e-75 |
PFAM |
|
PDB:3EO3|C
|
406 |
471 |
2e-33 |
PDB |
|
SCOP:d1bu6o1
|
410 |
462 |
1e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173234
AA Change: E532G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133521
Gene: ENSMUSG00000028479
AA Change: E532G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Epimerase_2
|
32 |
375 |
3.9e-75 |
PFAM |
|
Pfam:ROK
|
453 |
522 |
1.6e-16 |
PFAM |
|
low complexity region
|
611 |
633 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174522
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene causes a block in sialic acid biosynthesis and early embryonic lethality. A knockout mouse expressing the human V572L mutation shows features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol9b |
T |
C |
15: 77,620,058 (GRCm39) |
S285P |
probably damaging |
Het |
| Casz1 |
C |
A |
4: 149,019,041 (GRCm39) |
N447K |
probably damaging |
Het |
| Cltb |
T |
C |
13: 54,754,480 (GRCm39) |
T71A |
possibly damaging |
Het |
| Dcaf12 |
A |
G |
4: 41,313,267 (GRCm39) |
F93L |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,328,030 (GRCm39) |
Y2135H |
probably damaging |
Het |
| Entpd2 |
C |
T |
2: 25,288,568 (GRCm39) |
R191W |
probably damaging |
Het |
| Gm17067 |
G |
T |
7: 42,357,654 (GRCm39) |
P283T |
probably benign |
Het |
| Gm3250 |
A |
G |
10: 77,618,367 (GRCm39) |
|
probably benign |
Het |
| Gsdmc3 |
T |
G |
15: 63,740,261 (GRCm39) |
D86A |
probably benign |
Het |
| Hs3st2 |
A |
G |
7: 121,099,922 (GRCm39) |
H256R |
probably damaging |
Het |
| Il19 |
T |
A |
1: 130,863,718 (GRCm39) |
D16V |
probably damaging |
Het |
| Lats2 |
A |
T |
14: 57,971,632 (GRCm39) |
N14K |
probably damaging |
Het |
| Mill2 |
G |
T |
7: 18,590,373 (GRCm39) |
S151I |
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,390,227 (GRCm39) |
R392H |
probably damaging |
Het |
| Nop56 |
T |
C |
2: 130,118,545 (GRCm39) |
|
probably null |
Het |
| Or14j8 |
A |
T |
17: 38,262,967 (GRCm39) |
V316D |
probably benign |
Het |
| Or2bd2 |
A |
T |
7: 6,443,613 (GRCm39) |
H238L |
probably benign |
Het |
| Or5p5 |
A |
T |
7: 107,414,219 (GRCm39) |
I143F |
probably benign |
Het |
| Pde1a |
T |
C |
2: 79,695,406 (GRCm39) |
R446G |
probably benign |
Het |
| Pes1 |
T |
A |
11: 3,928,004 (GRCm39) |
M552K |
possibly damaging |
Het |
| Plxnb2 |
T |
A |
15: 89,045,225 (GRCm39) |
T1074S |
possibly damaging |
Het |
| Psg23 |
G |
T |
7: 18,346,112 (GRCm39) |
H194Q |
probably benign |
Het |
| Rprd2 |
A |
G |
3: 95,694,685 (GRCm39) |
V116A |
probably damaging |
Het |
| Shkbp1 |
A |
G |
7: 27,053,826 (GRCm39) |
V124A |
possibly damaging |
Het |
| Slc38a8 |
A |
T |
8: 120,221,044 (GRCm39) |
|
probably null |
Het |
| Slitrk6 |
A |
G |
14: 110,987,958 (GRCm39) |
V583A |
probably benign |
Het |
| Sptbn5 |
G |
T |
2: 119,880,573 (GRCm39) |
|
noncoding transcript |
Het |
| Stab1 |
A |
T |
14: 30,880,950 (GRCm39) |
I614N |
probably damaging |
Het |
| Tgm6 |
A |
G |
2: 129,983,148 (GRCm39) |
T246A |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,882,734 (GRCm39) |
L187P |
probably damaging |
Het |
| Vmn1r157 |
A |
G |
7: 22,461,272 (GRCm39) |
R51G |
possibly damaging |
Het |
| Vmn2r68 |
A |
T |
7: 84,871,453 (GRCm39) |
I610K |
probably damaging |
Het |
|
| Other mutations in Gne |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01451:Gne
|
APN |
4 |
44,041,860 (GRCm39) |
splice site |
probably null |
|
|
IGL02028:Gne
|
APN |
4 |
44,066,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02106:Gne
|
APN |
4 |
44,037,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02216:Gne
|
APN |
4 |
44,044,761 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL03095:Gne
|
APN |
4 |
44,055,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0069:Gne
|
UTSW |
4 |
44,060,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0069:Gne
|
UTSW |
4 |
44,060,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0310:Gne
|
UTSW |
4 |
44,060,157 (GRCm39) |
nonsense |
probably null |
|
|
R0606:Gne
|
UTSW |
4 |
44,042,244 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0658:Gne
|
UTSW |
4 |
44,039,033 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1878:Gne
|
UTSW |
4 |
44,040,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2009:Gne
|
UTSW |
4 |
44,055,273 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2338:Gne
|
UTSW |
4 |
44,042,196 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4043:Gne
|
UTSW |
4 |
44,040,383 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4361:Gne
|
UTSW |
4 |
44,059,947 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4725:Gne
|
UTSW |
4 |
44,066,806 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4869:Gne
|
UTSW |
4 |
44,055,204 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5511:Gne
|
UTSW |
4 |
44,041,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5797:Gne
|
UTSW |
4 |
44,060,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6176:Gne
|
UTSW |
4 |
44,053,019 (GRCm39) |
intron |
probably benign |
|
|
R6461:Gne
|
UTSW |
4 |
44,060,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6804:Gne
|
UTSW |
4 |
44,060,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7170:Gne
|
UTSW |
4 |
44,040,361 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7191:Gne
|
UTSW |
4 |
44,040,266 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7264:Gne
|
UTSW |
4 |
44,042,175 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7413:Gne
|
UTSW |
4 |
44,044,857 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7956:Gne
|
UTSW |
4 |
44,044,962 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8184:Gne
|
UTSW |
4 |
44,084,061 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8734:Gne
|
UTSW |
4 |
44,072,911 (GRCm39) |
unclassified |
probably benign |
|
|
R8981:Gne
|
UTSW |
4 |
44,042,261 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9331:Gne
|
UTSW |
4 |
44,066,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9380:Gne
|
UTSW |
4 |
44,066,807 (GRCm39) |
missense |
probably benign |
|
|
RF012:Gne
|
UTSW |
4 |
44,060,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF014:Gne
|
UTSW |
4 |
44,060,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAAGTGTCTGCGCCTGAG -3'
(R):5'- GCTTCCACGTAGCTAAGATCAG -3'
Sequencing Primer
(F):5'- CTGAGGGAAACTGAGGCTCTC -3'
(R):5'- CTTCCACGTAGCTAAGATCAGAAGTG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation