Incidental Mutation 'RF012:Gne'
| ID |
603255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gne
|
| Ensembl Gene |
ENSMUSG00000028479 |
| Gene Name |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
| Synonyms |
2310066H07Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
RF012 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
44034075-44084177 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 44060045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 147
(A147D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030201]
[ENSMUST00000102936]
[ENSMUST00000128439]
[ENSMUST00000133709]
[ENSMUST00000140724]
[ENSMUST00000144985]
[ENSMUST00000172533]
[ENSMUST00000173234]
[ENSMUST00000173274]
[ENSMUST00000173383]
|
| AlphaFold |
Q91WG8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030201
AA Change: A147D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030201
Gene: ENSMUSG00000028479
AA Change: A147D
| 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 damaging
Transcript: ENSMUST00000102936
AA Change: A116D
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000100000
Gene: ENSMUSG00000028479
AA Change: A116D
| 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: ENSMUST00000128439
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133709
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140724
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144985
AA Change: A155D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118443
Gene: ENSMUSG00000028479
AA Change: A155D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Epimerase_2
|
71 |
213 |
1.3e-37 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172533
AA Change: A116D
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134040
Gene: ENSMUSG00000028479
AA Change: A116D
| 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: A116D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133521
Gene: ENSMUSG00000028479
AA Change: A116D
| 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 damaging
Transcript: ENSMUST00000173274
AA Change: A116D
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134406
Gene: ENSMUSG00000028479
AA Change: A116D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Epimerase_2
|
32 |
292 |
2.5e-54 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173383
AA Change: A116D
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133440
Gene: ENSMUSG00000028479
AA Change: A116D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Epimerase_2
|
32 |
133 |
3.9e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174522
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.8%
|
| Validation Efficiency |
89% (56/63) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
T |
A |
12: 113,453,552 (GRCm39) |
L123Q |
probably damaging |
Het |
| AI837181 |
GCG |
GCGTCG |
19: 5,475,255 (GRCm39) |
|
probably benign |
Het |
| Akr1e1 |
T |
A |
13: 4,645,125 (GRCm39) |
N242I |
probably damaging |
Het |
| Ankrd7 |
G |
C |
6: 18,869,274 (GRCm39) |
E194Q |
possibly damaging |
Het |
| Ano3 |
A |
G |
2: 110,527,868 (GRCm39) |
F517L |
possibly damaging |
Het |
| Arhgef4 |
CAAA |
C |
1: 34,763,565 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
AGACGACGA |
AGACGA |
4: 133,480,131 (GRCm39) |
|
probably benign |
Het |
| Atp2c2 |
G |
T |
8: 120,472,253 (GRCm39) |
A436S |
possibly damaging |
Het |
| BC004004 |
T |
A |
17: 29,501,782 (GRCm39) |
V107E |
probably benign |
Het |
| Begain |
CGCCGC |
CGCCGCAGCCGC |
12: 108,999,353 (GRCm39) |
|
probably benign |
Het |
| Cad |
GT |
G |
5: 31,217,556 (GRCm39) |
|
probably benign |
Het |
| Chi3l1 |
A |
T |
1: 134,112,909 (GRCm39) |
T122S |
probably benign |
Het |
| Clic6 |
A |
G |
16: 92,327,697 (GRCm39) |
S501G |
possibly damaging |
Het |
| Col6a3 |
A |
C |
1: 90,738,282 (GRCm39) |
L1079R |
probably damaging |
Het |
| Coro2a |
T |
C |
4: 46,542,336 (GRCm39) |
K346E |
probably damaging |
Het |
| Ctsf |
A |
G |
19: 4,908,694 (GRCm39) |
N325D |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,262,375 (GRCm39) |
E2881G |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,455,463 (GRCm39) |
T863A |
probably damaging |
Het |
| Dnai2 |
A |
T |
11: 114,641,242 (GRCm39) |
I356F |
probably damaging |
Het |
| Dusp4 |
ACGGCGGCGGCGGC |
ACGGCGGCGGC |
8: 35,274,953 (GRCm39) |
|
probably benign |
Het |
| Efhb |
T |
C |
17: 53,720,545 (GRCm39) |
N647D |
probably damaging |
Het |
| Efhd2 |
CCG |
CCGACGGCG |
4: 141,602,079 (GRCm39) |
|
probably benign |
Het |
| Eif3i |
A |
G |
4: 129,485,872 (GRCm39) |
Y318H |
probably damaging |
Het |
| Fbxl5 |
T |
C |
5: 43,930,847 (GRCm39) |
H80R |
probably damaging |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,626 (GRCm39) |
|
probably benign |
Het |
| Gpi1 |
A |
T |
7: 33,901,902 (GRCm39) |
H538Q |
probably damaging |
Het |
| Itih2 |
T |
C |
2: 10,122,214 (GRCm39) |
H229R |
possibly damaging |
Het |
| Kdm7a |
A |
G |
6: 39,183,447 (GRCm39) |
V41A |
probably damaging |
Het |
| Krtap28-10 |
GCCACA |
GCCACACCCACA |
1: 83,019,857 (GRCm39) |
|
probably benign |
Het |
| Lipa |
A |
T |
19: 34,486,498 (GRCm39) |
S141R |
probably damaging |
Het |
| Medag |
G |
T |
5: 149,335,459 (GRCm39) |
C6F |
probably benign |
Het |
| Nefh |
GGCCTCT |
GGCCTCTCCTGGGGACTTTGCCTCT |
11: 4,891,055 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,030 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GACTTGGCCTCACCTGGG |
GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG |
11: 4,891,032 (GRCm39) |
|
probably benign |
Het |
| Opa1 |
A |
G |
16: 29,432,784 (GRCm39) |
I482M |
probably damaging |
Het |
| Or12e14 |
A |
T |
2: 87,677,103 (GRCm39) |
I163L |
probably benign |
Het |
| Pgf |
T |
C |
12: 85,216,316 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
TTTT |
TTTTTTTTTTTATTT |
15: 44,421,901 (GRCm39) |
|
probably benign |
Het |
| Pou2f1 |
G |
A |
1: 165,740,800 (GRCm39) |
T134I |
unknown |
Het |
| Pramel32 |
T |
A |
4: 88,546,006 (GRCm39) |
R445S |
probably damaging |
Het |
| Prss52 |
A |
G |
14: 64,350,922 (GRCm39) |
S236G |
probably damaging |
Het |
| Rpsa |
A |
G |
9: 119,960,105 (GRCm39) |
T223A |
probably benign |
Het |
| Shprh |
A |
G |
10: 11,040,585 (GRCm39) |
N686S |
probably benign |
Het |
| Six3 |
CGG |
CGGTGG |
17: 85,928,796 (GRCm39) |
|
probably benign |
Het |
| Six4 |
TG |
T |
12: 73,150,356 (GRCm39) |
|
probably null |
Het |
| Slc22a27 |
C |
T |
19: 7,903,949 (GRCm39) |
G63S |
probably benign |
Het |
| Tmcc2 |
G |
T |
1: 132,288,756 (GRCm39) |
N310K |
probably damaging |
Het |
| Tmem144 |
A |
T |
3: 79,729,961 (GRCm39) |
L263Q |
probably damaging |
Het |
| Tpra1 |
T |
C |
6: 88,886,324 (GRCm39) |
V101A |
probably damaging |
Het |
| Troap |
T |
C |
15: 98,973,281 (GRCm39) |
S16P |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,543,915 (GRCm39) |
T33024A |
probably benign |
Het |
| Usp2 |
A |
ACATGTGACCTGTTCTTCACTTACT |
9: 44,000,427 (GRCm39) |
|
probably benign |
Het |
| Was |
CTCCTCCT |
C |
X: 7,952,470 (GRCm39) |
|
probably null |
Het |
| Zfp672 |
A |
G |
11: 58,206,938 (GRCm39) |
V461A |
probably benign |
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 |
|
R6016:Gne
|
UTSW |
4 |
44,039,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
RF014:Gne
|
UTSW |
4 |
44,060,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGTTTGTCATAGGAAGGGC -3'
(R):5'- CATACCGCATGATTGAGCAAGATG -3'
Sequencing Primer
(F):5'- GTCGTGGTCCTCGCACATAGAG -3'
(R):5'- GATGACTTTGACATTAACACCAGGC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation