Incidental Mutation 'IGL03127:Gcnt7'
| ID |
410198 |
| 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: 0.081)
|
| Stock # |
IGL03127
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
172292233-172300516 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 172296331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 110
(C110*)
|
| 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 null
Transcript: ENSMUST00000099060
AA Change: C164*
|
| SMART Domains |
Protein: ENSMUSP00000096659
Gene: ENSMUSG00000074569
AA Change: C164*
| 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 |
probably null
Transcript: ENSMUST00000161334
AA Change: C110*
|
| SMART Domains |
Protein: ENSMUSP00000125368
Gene: ENSMUSG00000074569
AA Change: C110*
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Amdhd2 |
A |
G |
17: 24,376,712 (GRCm39) |
|
probably null |
Het |
| Apol7c |
A |
G |
15: 77,410,106 (GRCm39) |
M280T |
probably benign |
Het |
| Atl2 |
T |
C |
17: 80,160,283 (GRCm39) |
M264V |
probably damaging |
Het |
| Ccdc141 |
C |
T |
2: 76,859,579 (GRCm39) |
|
probably null |
Het |
| Dtx4 |
T |
C |
19: 12,463,864 (GRCm39) |
|
probably benign |
Het |
| Dyrk4 |
G |
A |
6: 126,874,134 (GRCm39) |
T152I |
possibly damaging |
Het |
| F5 |
T |
A |
1: 164,021,107 (GRCm39) |
I1194N |
probably benign |
Het |
| Gadl1 |
C |
T |
9: 115,777,732 (GRCm39) |
T126M |
probably damaging |
Het |
| H2-M9 |
C |
T |
17: 36,951,714 (GRCm39) |
V254M |
possibly damaging |
Het |
| Hadha |
A |
T |
5: 30,339,184 (GRCm39) |
|
probably benign |
Het |
| Kit |
T |
C |
5: 75,801,848 (GRCm39) |
M621T |
probably benign |
Het |
| Krt73 |
T |
C |
15: 101,704,275 (GRCm39) |
M422V |
probably benign |
Het |
| Neil2 |
T |
C |
14: 63,429,257 (GRCm39) |
H12R |
probably benign |
Het |
| Nrsn1 |
A |
G |
13: 25,437,700 (GRCm39) |
L76P |
probably damaging |
Het |
| Or2y1g |
T |
G |
11: 49,171,599 (GRCm39) |
V208G |
possibly damaging |
Het |
| Or8b1 |
C |
A |
9: 38,399,882 (GRCm39) |
Q186K |
probably benign |
Het |
| Or8d2 |
T |
A |
9: 38,759,505 (GRCm39) |
Y32N |
probably damaging |
Het |
| Pot1a |
G |
A |
6: 25,794,615 (GRCm39) |
A23V |
probably benign |
Het |
| Ppp1r14d |
A |
G |
2: 119,048,841 (GRCm39) |
*147Q |
probably null |
Het |
| Ptger2 |
T |
C |
14: 45,239,462 (GRCm39) |
|
probably benign |
Het |
| Syne3 |
A |
T |
12: 104,909,687 (GRCm39) |
D716E |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,976,102 (GRCm39) |
N554D |
probably damaging |
Het |
| Ushbp1 |
T |
A |
8: 71,847,020 (GRCm39) |
Q204L |
possibly damaging |
Het |
|
| Other mutations in Gcnt7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01488:Gcnt7
|
APN |
2 |
172,296,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation