Incidental Mutation 'IGL00596:Pomgnt2'
ID |
277823 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pomgnt2
|
Ensembl Gene |
ENSMUSG00000066235 |
Gene Name |
protein O-linked mannose beta 1,4-N-acetylglucosaminyltransferase 2 |
Synonyms |
Gtdc2, C85492 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00596
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
121810675-121825116 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 121812191 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 197
(W197R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149753
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043011]
[ENSMUST00000084743]
[ENSMUST00000213773]
[ENSMUST00000214511]
[ENSMUST00000214533]
[ENSMUST00000214536]
[ENSMUST00000217610]
[ENSMUST00000216669]
[ENSMUST00000215084]
[ENSMUST00000215990]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043011
|
SMART Domains |
Protein: ENSMUSP00000040221 Gene: ENSMUSG00000038233
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
low complexity region
|
183 |
194 |
N/A |
INTRINSIC |
Pfam:FAM198
|
220 |
544 |
1.3e-150 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000084743
AA Change: W197R
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000095868 Gene: ENSMUSG00000066235 AA Change: W197R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
low complexity region
|
29 |
38 |
N/A |
INTRINSIC |
Pfam:DUF563
|
162 |
395 |
1.7e-25 |
PFAM |
low complexity region
|
462 |
475 |
N/A |
INTRINSIC |
SCOP:d1f6fb2
|
482 |
580 |
6e-9 |
SMART |
Blast:FN3
|
486 |
570 |
2e-49 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213773
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214511
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214533
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214536
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215008
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217610
AA Change: W197R
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216669
AA Change: W197R
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215084
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215990
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012] PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased birth body size and complete neonatal lethality associated with abnormal basal lamina formation and a neuronal migration defect due to a lack of laminin-binding glycans on alpha-dystroglycan. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
G |
T |
6: 128,547,030 (GRCm39) |
N366K |
probably damaging |
Het |
Adgrl3 |
G |
A |
5: 81,794,314 (GRCm39) |
R445Q |
probably benign |
Het |
Cc2d1b |
T |
C |
4: 108,484,503 (GRCm39) |
I446T |
probably damaging |
Het |
Cdhr2 |
A |
T |
13: 54,868,810 (GRCm39) |
N591Y |
probably damaging |
Het |
Cntnap5b |
A |
G |
1: 100,306,886 (GRCm39) |
R868G |
possibly damaging |
Het |
Dkk2 |
A |
T |
3: 131,879,564 (GRCm39) |
D81V |
probably damaging |
Het |
Dsg1c |
T |
A |
18: 20,414,899 (GRCm39) |
|
probably benign |
Het |
Dym |
T |
A |
18: 75,252,320 (GRCm39) |
V362D |
probably benign |
Het |
Epm2a |
A |
T |
10: 11,324,384 (GRCm39) |
|
probably null |
Het |
Grid2 |
G |
T |
6: 64,510,688 (GRCm39) |
A773S |
possibly damaging |
Het |
Iars2 |
A |
G |
1: 185,048,151 (GRCm39) |
V527A |
probably benign |
Het |
Kcnj16 |
T |
C |
11: 110,915,349 (GRCm39) |
Y4H |
probably damaging |
Het |
Krt6a |
T |
A |
15: 101,602,665 (GRCm39) |
I7F |
possibly damaging |
Het |
Myo6 |
T |
G |
9: 80,189,025 (GRCm39) |
F757V |
possibly damaging |
Het |
Nbeal1 |
T |
C |
1: 60,220,900 (GRCm39) |
L13P |
probably damaging |
Het |
Nr2c2 |
A |
T |
6: 92,126,700 (GRCm39) |
K63M |
probably damaging |
Het |
Pcdh15 |
G |
A |
10: 74,466,576 (GRCm39) |
G1511D |
probably benign |
Het |
Rint1 |
G |
A |
5: 24,016,863 (GRCm39) |
V543M |
probably damaging |
Het |
Rnd2 |
G |
A |
11: 101,362,017 (GRCm39) |
R190H |
possibly damaging |
Het |
Sh3rf3 |
A |
G |
10: 58,885,178 (GRCm39) |
S354G |
probably benign |
Het |
Slc10a2 |
T |
C |
8: 5,141,680 (GRCm39) |
I235V |
probably benign |
Het |
Steap4 |
G |
A |
5: 8,026,979 (GRCm39) |
R314H |
probably damaging |
Het |
Ticrr |
A |
C |
7: 79,327,041 (GRCm39) |
N583T |
probably damaging |
Het |
Tmem25 |
T |
A |
9: 44,706,816 (GRCm39) |
|
probably benign |
Het |
Vps8 |
C |
T |
16: 21,267,162 (GRCm39) |
|
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,345,226 (GRCm39) |
K2489R |
probably benign |
Het |
Xlr4b |
T |
A |
X: 72,263,577 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Pomgnt2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01911:Pomgnt2
|
APN |
9 |
121,811,854 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01943:Pomgnt2
|
APN |
9 |
121,811,536 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02955:Pomgnt2
|
APN |
9 |
121,811,956 (GRCm39) |
missense |
probably damaging |
1.00 |
H8441:Pomgnt2
|
UTSW |
9 |
121,811,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R0080:Pomgnt2
|
UTSW |
9 |
121,811,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R0082:Pomgnt2
|
UTSW |
9 |
121,811,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R0602:Pomgnt2
|
UTSW |
9 |
121,811,339 (GRCm39) |
missense |
probably benign |
0.02 |
R0715:Pomgnt2
|
UTSW |
9 |
121,811,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R1491:Pomgnt2
|
UTSW |
9 |
121,811,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R1908:Pomgnt2
|
UTSW |
9 |
121,811,257 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1909:Pomgnt2
|
UTSW |
9 |
121,811,257 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2041:Pomgnt2
|
UTSW |
9 |
121,811,354 (GRCm39) |
missense |
probably benign |
0.00 |
R4428:Pomgnt2
|
UTSW |
9 |
121,811,320 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4578:Pomgnt2
|
UTSW |
9 |
121,812,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R4910:Pomgnt2
|
UTSW |
9 |
121,812,013 (GRCm39) |
missense |
probably benign |
0.19 |
R4937:Pomgnt2
|
UTSW |
9 |
121,811,620 (GRCm39) |
missense |
probably benign |
0.05 |
R5409:Pomgnt2
|
UTSW |
9 |
121,811,303 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6090:Pomgnt2
|
UTSW |
9 |
121,811,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R6596:Pomgnt2
|
UTSW |
9 |
121,811,320 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7152:Pomgnt2
|
UTSW |
9 |
121,812,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |