Incidental Mutation 'IGL01488:Gcnt7'
| ID |
88794 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gcnt7
|
| Ensembl Gene |
ENSMUSG00000074569 |
| Gene Name |
glucosaminyl (N-acetyl) transferase family member 7 |
| Synonyms |
A330041C17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
IGL01488
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
172292233-172300516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 172296209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 205
(V205A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096659
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029005]
[ENSMUST00000099060]
|
| AlphaFold |
Q3V3K7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029005
|
| SMART Domains |
Protein: ENSMUSP00000029005
Gene: ENSMUSG00000027502
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rtf2
|
1 |
290 |
1.5e-99 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099060
AA Change: V205A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096659
Gene: ENSMUSG00000074569
AA Change: V205A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
40 |
N/A |
INTRINSIC |
|
Pfam:Branch
|
115 |
377 |
5.8e-40 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000109132
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140048
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161334
AA Change: V151A
|
| SMART Domains |
Protein: ENSMUSP00000125368
Gene: ENSMUSG00000074569
AA Change: V151A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Branch
|
62 |
285 |
1.7e-38 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc3 |
T |
C |
11: 101,228,304 (GRCm39) |
F424L |
possibly damaging |
Het |
| Cep170 |
A |
G |
1: 176,583,941 (GRCm39) |
S813P |
probably benign |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Dag1 |
C |
A |
9: 108,085,502 (GRCm39) |
E546D |
probably benign |
Het |
| Espl1 |
G |
A |
15: 102,207,174 (GRCm39) |
D213N |
probably benign |
Het |
| Fbxo47 |
A |
G |
11: 97,759,504 (GRCm39) |
|
probably benign |
Het |
| Il1b |
A |
G |
2: 129,209,154 (GRCm39) |
|
probably benign |
Het |
| Klk10 |
T |
A |
7: 43,434,400 (GRCm39) |
I264N |
probably damaging |
Het |
| Lemd3 |
A |
T |
10: 120,769,304 (GRCm39) |
C646* |
probably null |
Het |
| Mcm3 |
A |
T |
1: 20,883,280 (GRCm39) |
V313D |
possibly damaging |
Het |
| Mylk3 |
C |
T |
8: 86,078,656 (GRCm39) |
V413I |
probably damaging |
Het |
| Or1p1 |
T |
C |
11: 74,179,514 (GRCm39) |
L14P |
probably damaging |
Het |
| Or4k6 |
A |
T |
14: 50,475,595 (GRCm39) |
M249K |
possibly damaging |
Het |
| Rfx2 |
T |
A |
17: 57,112,398 (GRCm39) |
Q45L |
probably damaging |
Het |
| Selplg |
T |
A |
5: 113,957,697 (GRCm39) |
E203V |
possibly damaging |
Het |
| Slc12a6 |
A |
G |
2: 112,183,409 (GRCm39) |
|
probably null |
Het |
| Slc4a3 |
A |
G |
1: 75,525,520 (GRCm39) |
S207G |
probably benign |
Het |
| Trhde |
C |
T |
10: 114,282,063 (GRCm39) |
V805I |
possibly damaging |
Het |
| Vav3 |
A |
C |
3: 109,565,260 (GRCm39) |
I159L |
probably damaging |
Het |
|
| Other mutations in Gcnt7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03127:Gcnt7
|
APN |
2 |
172,296,331 (GRCm39) |
nonsense |
probably null |
|
|
IGL03293:Gcnt7
|
APN |
2 |
172,296,303 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1781:Gcnt7
|
UTSW |
2 |
172,296,800 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6468:Gcnt7
|
UTSW |
2 |
172,295,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6884:Gcnt7
|
UTSW |
2 |
172,296,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8535:Gcnt7
|
UTSW |
2 |
172,296,466 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8835:Gcnt7
|
UTSW |
2 |
172,295,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Gcnt7
|
UTSW |
2 |
172,293,180 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9565:Gcnt7
|
UTSW |
2 |
172,293,180 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Gcnt7
|
UTSW |
2 |
172,296,806 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Posted On |
2013-11-18 |
Incidental Mutation