Incidental Mutation 'IGL02955:Pomgnt2'
| ID |
365074 |
| 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 # |
IGL02955
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
121810675-121825116 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121811956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 275
(L275P)
|
| 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 damaging
Transcript: ENSMUST00000084743
AA Change: L275P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095868
Gene: ENSMUSG00000066235
AA Change: L275P
| 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 damaging
Transcript: ENSMUST00000217610
AA Change: L275P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216669
AA Change: L275P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abr |
T |
A |
11: 76,309,991 (GRCm39) |
H840L |
probably damaging |
Het |
| Anks1 |
A |
G |
17: 28,273,291 (GRCm39) |
D970G |
probably damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,644,591 (GRCm39) |
K162R |
probably null |
Het |
| Bicd2 |
T |
C |
13: 49,531,691 (GRCm39) |
V311A |
probably benign |
Het |
| Cblif |
T |
C |
19: 11,725,027 (GRCm39) |
L6P |
possibly damaging |
Het |
| Ccdc162 |
A |
G |
10: 41,437,123 (GRCm39) |
L489P |
probably damaging |
Het |
| Cd55 |
G |
T |
1: 130,377,219 (GRCm39) |
T38K |
probably damaging |
Het |
| Cep250 |
C |
A |
2: 155,817,676 (GRCm39) |
A749E |
probably benign |
Het |
| Cntn3 |
G |
T |
6: 102,255,262 (GRCm39) |
T212N |
probably damaging |
Het |
| Cntnap5c |
T |
A |
17: 58,199,097 (GRCm39) |
|
probably benign |
Het |
| Dclre1c |
A |
G |
2: 3,439,089 (GRCm39) |
E83G |
probably damaging |
Het |
| Dok4 |
T |
C |
8: 95,592,256 (GRCm39) |
N244S |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,142,864 (GRCm39) |
T1151A |
probably benign |
Het |
| Fer |
G |
A |
17: 64,298,712 (GRCm39) |
|
probably null |
Het |
| Hexb |
A |
G |
13: 97,317,584 (GRCm39) |
|
probably benign |
Het |
| Ints5 |
T |
C |
19: 8,875,014 (GRCm39) |
L991P |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,259,261 (GRCm39) |
D722G |
possibly damaging |
Het |
| Jup |
A |
G |
11: 100,267,565 (GRCm39) |
I586T |
probably benign |
Het |
| Lig1 |
G |
A |
7: 13,030,273 (GRCm39) |
G417R |
probably damaging |
Het |
| Lig4 |
A |
G |
8: 10,022,103 (GRCm39) |
I559T |
possibly damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,343,300 (GRCm39) |
I1731V |
probably benign |
Het |
| Mfsd13a |
T |
G |
19: 46,356,192 (GRCm39) |
V99G |
possibly damaging |
Het |
| Nelfcd |
A |
G |
2: 174,264,391 (GRCm39) |
H153R |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,060,637 (GRCm39) |
Y724H |
possibly damaging |
Het |
| Npas3 |
C |
A |
12: 53,548,048 (GRCm39) |
N101K |
probably damaging |
Het |
| Nuf2 |
A |
G |
1: 169,334,807 (GRCm39) |
|
probably benign |
Het |
| Or10am5 |
T |
C |
7: 6,517,682 (GRCm39) |
T249A |
probably damaging |
Het |
| Or11g7 |
C |
T |
14: 50,691,442 (GRCm39) |
T311I |
probably damaging |
Het |
| Or5c1 |
A |
T |
2: 37,222,013 (GRCm39) |
M85L |
probably benign |
Het |
| Polr3c |
A |
G |
3: 96,621,628 (GRCm39) |
Y423H |
probably damaging |
Het |
| Ptprj |
T |
G |
2: 90,298,808 (GRCm39) |
|
probably null |
Het |
| Pxdn |
T |
C |
12: 30,053,156 (GRCm39) |
I931T |
probably damaging |
Het |
| Rad51b |
C |
T |
12: 79,371,856 (GRCm39) |
Q190* |
probably null |
Het |
| Rpl10a |
T |
C |
17: 28,547,967 (GRCm39) |
I36T |
probably damaging |
Het |
| Tagap1 |
T |
C |
17: 7,223,781 (GRCm39) |
H305R |
probably damaging |
Het |
| Tmem154 |
A |
G |
3: 84,591,508 (GRCm39) |
|
probably benign |
Het |
| Vil1 |
A |
G |
1: 74,457,682 (GRCm39) |
E105G |
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,798,241 (GRCm39) |
C2055F |
probably damaging |
Het |
| Zfat |
T |
C |
15: 68,052,963 (GRCm39) |
N277S |
probably damaging |
Het |
|
| Other mutations in Pomgnt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00596:Pomgnt2
|
APN |
9 |
121,812,191 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation