Incidental Mutation 'R0890:Pomgnt1'
| ID |
83457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pomgnt1
|
| Ensembl Gene |
ENSMUSG00000028700 |
| Gene Name |
protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase |
| Synonyms |
0610016I07Rik, 4930467B06Rik |
| MMRRC Submission |
039053-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0890 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
116007700-116017041 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116009382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 93
(D93G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106494]
[ENSMUST00000106496]
[ENSMUST00000106498]
[ENSMUST00000120083]
[ENSMUST00000121052]
|
| AlphaFold |
Q91X88 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106494
AA Change: D93G
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102103
Gene: ENSMUSG00000028700
AA Change: D93G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
75 |
N/A |
INTRINSIC |
|
PDB:2YOQ|C
|
106 |
195 |
6e-10 |
PDB |
|
Pfam:GNT-I
|
271 |
591 |
3e-52 |
PFAM |
|
low complexity region
|
623 |
636 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106496
AA Change: D115G
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000102105
Gene: ENSMUSG00000028700
AA Change: D115G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
97 |
N/A |
INTRINSIC |
|
PDB:2YOP|C
|
129 |
217 |
5e-10 |
PDB |
|
Pfam:GNT-I
|
260 |
580 |
2.9e-52 |
PFAM |
|
low complexity region
|
612 |
625 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106498
AA Change: D115G
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000102107
Gene: ENSMUSG00000028700
AA Change: D115G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
97 |
N/A |
INTRINSIC |
|
PDB:2YOQ|C
|
129 |
217 |
6e-10 |
PDB |
|
Pfam:GNT-I
|
293 |
613 |
3.2e-52 |
PFAM |
|
low complexity region
|
645 |
658 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120083
AA Change: D115G
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000112751
Gene: ENSMUSG00000028700
AA Change: D115G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
97 |
N/A |
INTRINSIC |
|
Pfam:ILEI
|
129 |
220 |
8.9e-28 |
PFAM |
|
Pfam:GNT-I
|
293 |
612 |
1.9e-51 |
PFAM |
|
low complexity region
|
645 |
658 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121052
AA Change: D115G
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000112911
Gene: ENSMUSG00000028700
AA Change: D115G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
97 |
N/A |
INTRINSIC |
|
PDB:2YOQ|C
|
129 |
217 |
6e-10 |
PDB |
|
Pfam:GNT-I
|
293 |
613 |
3.2e-52 |
PFAM |
|
low complexity region
|
645 |
658 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127426
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133838
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147612
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135982
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136855
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]
PHENOTYPE: Surviving homozygous null mice display a mild dystrophy despite a reduced muscle mass and myofiber number, impaired muscle regeneration and low proliferative activity of satellite cells. Mice homozygous for a gene trap allele show reduced fertility and multiple defects in muscle, eye and brain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,972,936 (GRCm39) |
S837P |
probably benign |
Het |
| Cdh24 |
A |
G |
14: 54,870,051 (GRCm39) |
V240A |
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,291,964 (GRCm39) |
T556A |
possibly damaging |
Het |
| Coa7 |
G |
A |
4: 108,195,583 (GRCm39) |
A171T |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,607,684 (GRCm39) |
S381R |
probably damaging |
Het |
| Col9a3 |
C |
T |
2: 180,251,856 (GRCm39) |
P335L |
probably benign |
Het |
| Dcxr |
T |
A |
11: 120,617,297 (GRCm39) |
N82I |
probably damaging |
Het |
| Dhdh |
T |
C |
7: 45,131,395 (GRCm39) |
D146G |
possibly damaging |
Het |
| Dhrs13 |
T |
A |
11: 77,925,176 (GRCm39) |
L99Q |
probably null |
Het |
| Dnai1 |
C |
T |
4: 41,604,253 (GRCm39) |
T220M |
possibly damaging |
Het |
| Gapvd1 |
T |
A |
2: 34,602,329 (GRCm39) |
D606V |
probably damaging |
Het |
| Gcn1 |
T |
G |
5: 115,717,852 (GRCm39) |
C246G |
possibly damaging |
Het |
| Gdf10 |
A |
G |
14: 33,654,113 (GRCm39) |
K207E |
possibly damaging |
Het |
| Gucy2d |
T |
C |
7: 98,122,472 (GRCm39) |
V1046A |
probably benign |
Het |
| Itpr3 |
C |
A |
17: 27,307,985 (GRCm39) |
Y257* |
probably null |
Het |
| Kifc5b |
C |
T |
17: 27,141,996 (GRCm39) |
T158M |
possibly damaging |
Het |
| Klra7 |
C |
T |
6: 130,195,916 (GRCm39) |
D251N |
probably benign |
Het |
| Mesp1 |
T |
C |
7: 79,442,683 (GRCm39) |
D198G |
probably benign |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,777 (GRCm39) |
C149* |
probably null |
Het |
| Nphp4 |
C |
A |
4: 152,582,677 (GRCm39) |
L169I |
possibly damaging |
Het |
| Or1j1 |
T |
A |
2: 36,702,586 (GRCm39) |
T173S |
probably benign |
Het |
| Or52p2 |
C |
A |
7: 102,237,408 (GRCm39) |
E181* |
probably null |
Het |
| Or5h17 |
T |
A |
16: 58,820,150 (GRCm39) |
I34K |
possibly damaging |
Het |
| Pcgf5 |
A |
T |
19: 36,389,544 (GRCm39) |
H7L |
probably benign |
Het |
| Polr3b |
A |
C |
10: 84,550,200 (GRCm39) |
K970T |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,321,312 (GRCm39) |
K1256E |
possibly damaging |
Het |
| Scn9a |
T |
C |
2: 66,314,079 (GRCm39) |
T1869A |
probably damaging |
Het |
| Setdb2 |
A |
G |
14: 59,656,669 (GRCm39) |
V232A |
possibly damaging |
Het |
| Sh3d21 |
T |
C |
4: 126,044,945 (GRCm39) |
E578G |
probably damaging |
Het |
| Tmem168 |
A |
T |
6: 13,603,271 (GRCm39) |
S32T |
probably damaging |
Het |
| Vmn1r38 |
T |
G |
6: 66,753,514 (GRCm39) |
I201L |
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,132,888 (GRCm39) |
W130C |
probably damaging |
Het |
|
| Other mutations in Pomgnt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00534:Pomgnt1
|
APN |
4 |
116,009,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02001:Pomgnt1
|
APN |
4 |
116,010,105 (GRCm39) |
nonsense |
probably null |
|
|
IGL02582:Pomgnt1
|
APN |
4 |
116,015,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
pomegranate
|
UTSW |
4 |
116,012,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0206:Pomgnt1
|
UTSW |
4 |
116,015,757 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0688:Pomgnt1
|
UTSW |
4 |
116,013,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0927:Pomgnt1
|
UTSW |
4 |
116,009,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1942:Pomgnt1
|
UTSW |
4 |
116,012,472 (GRCm39) |
splice site |
probably null |
|
|
R1983:Pomgnt1
|
UTSW |
4 |
116,009,117 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1983:Pomgnt1
|
UTSW |
4 |
116,009,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2034:Pomgnt1
|
UTSW |
4 |
116,015,124 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3721:Pomgnt1
|
UTSW |
4 |
116,010,740 (GRCm39) |
splice site |
probably benign |
|
|
R3774:Pomgnt1
|
UTSW |
4 |
116,011,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3775:Pomgnt1
|
UTSW |
4 |
116,011,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3815:Pomgnt1
|
UTSW |
4 |
116,011,139 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3816:Pomgnt1
|
UTSW |
4 |
116,011,139 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3817:Pomgnt1
|
UTSW |
4 |
116,011,139 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3818:Pomgnt1
|
UTSW |
4 |
116,011,139 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4447:Pomgnt1
|
UTSW |
4 |
116,010,120 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4583:Pomgnt1
|
UTSW |
4 |
116,015,691 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4616:Pomgnt1
|
UTSW |
4 |
116,012,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4690:Pomgnt1
|
UTSW |
4 |
116,012,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4717:Pomgnt1
|
UTSW |
4 |
116,011,412 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4719:Pomgnt1
|
UTSW |
4 |
116,012,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4747:Pomgnt1
|
UTSW |
4 |
116,013,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5108:Pomgnt1
|
UTSW |
4 |
116,013,453 (GRCm39) |
intron |
probably benign |
|
|
R5569:Pomgnt1
|
UTSW |
4 |
116,013,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5821:Pomgnt1
|
UTSW |
4 |
116,012,933 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5937:Pomgnt1
|
UTSW |
4 |
116,011,110 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6052:Pomgnt1
|
UTSW |
4 |
116,008,799 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6745:Pomgnt1
|
UTSW |
4 |
116,011,080 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6949:Pomgnt1
|
UTSW |
4 |
116,011,351 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7503:Pomgnt1
|
UTSW |
4 |
116,009,949 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7876:Pomgnt1
|
UTSW |
4 |
116,015,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8464:Pomgnt1
|
UTSW |
4 |
116,009,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9415:Pomgnt1
|
UTSW |
4 |
116,013,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
T0722:Pomgnt1
|
UTSW |
4 |
115,994,624 (GRCm39) |
unclassified |
probably benign |
|
|
T0975:Pomgnt1
|
UTSW |
4 |
115,994,624 (GRCm39) |
unclassified |
probably benign |
|
|
Z1177:Pomgnt1
|
UTSW |
4 |
116,009,906 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCTGGACACTCGGAGAGCAATC -3'
(R):5'- TCTGCTAACTCTCTACCAGTGAGCC -3'
Sequencing Primer
(F):5'- TCTCATGGCAGGAATGGC -3'
(R):5'- ATTACCTCTAGGACCCCAGTGG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation