Incidental Mutation 'R0206:Pomgnt1'
| ID |
35448 |
| 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 |
038459-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0206 (G1)
|
| Quality Score |
200 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
116007700-116017041 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 116015757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030465]
[ENSMUST00000106494]
[ENSMUST00000106496]
[ENSMUST00000106498]
[ENSMUST00000120083]
[ENSMUST00000120083]
[ENSMUST00000121052]
[ENSMUST00000121052]
[ENSMUST00000143426]
|
| AlphaFold |
Q91X88 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030465
|
| SMART Domains |
Protein: ENSMUSP00000030465
Gene: ENSMUSG00000028699
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
6 |
239 |
2.2e-48 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106494
|
| SMART Domains |
Protein: ENSMUSP00000102103
Gene: ENSMUSG00000028700
| 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 null
Transcript: ENSMUST00000106496
|
| SMART Domains |
Protein: ENSMUSP00000102105
Gene: ENSMUSG00000028700
| 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 null
Transcript: ENSMUST00000106498
|
| SMART Domains |
Protein: ENSMUSP00000102107
Gene: ENSMUSG00000028700
| 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 null
Transcript: ENSMUST00000120083
|
| SMART Domains |
Protein: ENSMUSP00000112751
Gene: ENSMUSG00000028700
| 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 null
Transcript: ENSMUST00000120083
|
| SMART Domains |
Protein: ENSMUSP00000112751
Gene: ENSMUSG00000028700
| 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 null
Transcript: ENSMUST00000121052
|
| SMART Domains |
Protein: ENSMUSP00000112911
Gene: ENSMUSG00000028700
| 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 null
Transcript: ENSMUST00000121052
|
| SMART Domains |
Protein: ENSMUSP00000112911
Gene: ENSMUSG00000028700
| 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: ENSMUST00000151325
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136855
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154534
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147612
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143426
|
| SMART Domains |
Protein: ENSMUSP00000121906
Gene: ENSMUSG00000028699
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
6 |
224 |
7.3e-47 |
PFAM |
|
| Meta Mutation Damage Score |
0.9501 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.6%
- 20x: 89.0%
|
| Validation Efficiency |
99% (83/84) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
G |
A |
17: 48,470,486 (GRCm39) |
T165I |
probably benign |
Het |
| Aadacl2fm1 |
C |
T |
3: 59,840,110 (GRCm39) |
R61C |
probably damaging |
Het |
| Acsl5 |
A |
G |
19: 55,269,001 (GRCm39) |
K221E |
probably benign |
Het |
| Adam26a |
A |
C |
8: 44,023,455 (GRCm39) |
F12V |
possibly damaging |
Het |
| Adgrb2 |
T |
C |
4: 129,886,352 (GRCm39) |
L164P |
probably damaging |
Het |
| Aldh1l1 |
T |
C |
6: 90,546,848 (GRCm39) |
F384L |
possibly damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,250,275 (GRCm39) |
E342G |
probably damaging |
Het |
| Btbd8 |
A |
G |
5: 107,652,906 (GRCm39) |
T304A |
probably benign |
Het |
| Cacna1b |
A |
G |
2: 24,497,492 (GRCm39) |
S2140P |
probably damaging |
Het |
| Camsap2 |
G |
C |
1: 136,208,738 (GRCm39) |
P918R |
probably damaging |
Het |
| Cdca3 |
C |
T |
6: 124,809,514 (GRCm39) |
|
probably benign |
Het |
| Cenpj |
G |
T |
14: 56,801,427 (GRCm39) |
A182E |
probably benign |
Het |
| Cit |
A |
T |
5: 116,132,089 (GRCm39) |
N1782Y |
possibly damaging |
Het |
| Cmya5 |
A |
G |
13: 93,232,065 (GRCm39) |
S1008P |
probably damaging |
Het |
| Csgalnact2 |
T |
G |
6: 118,091,347 (GRCm39) |
Q197P |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,116,385 (GRCm39) |
M1745T |
probably damaging |
Het |
| Ddt |
A |
G |
10: 75,608,719 (GRCm39) |
M1T |
probably null |
Het |
| Dnah11 |
A |
C |
12: 118,007,509 (GRCm39) |
N2156K |
probably damaging |
Het |
| Dock3 |
G |
T |
9: 106,874,195 (GRCm39) |
Y425* |
probably null |
Het |
| Eng |
A |
T |
2: 32,569,005 (GRCm39) |
T511S |
probably benign |
Het |
| Gabra6 |
C |
T |
11: 42,207,906 (GRCm39) |
W188* |
probably null |
Het |
| Gnptab |
A |
T |
10: 88,275,372 (GRCm39) |
H1111L |
probably damaging |
Het |
| H2-M10.4 |
A |
G |
17: 36,771,375 (GRCm39) |
W268R |
probably damaging |
Het |
| Hrct1 |
C |
A |
4: 43,727,384 (GRCm39) |
T8K |
possibly damaging |
Het |
| Il2ra |
T |
C |
2: 11,686,828 (GRCm39) |
|
probably benign |
Het |
| Inhca |
A |
G |
9: 103,159,861 (GRCm39) |
C5R |
probably damaging |
Het |
| Inpp5k |
T |
C |
11: 75,521,969 (GRCm39) |
I15T |
probably benign |
Het |
| Ipcef1 |
A |
G |
10: 6,870,062 (GRCm39) |
S113P |
probably damaging |
Het |
| Kctd8 |
A |
T |
5: 69,498,508 (GRCm39) |
V46E |
probably damaging |
Het |
| Klk1b9 |
T |
A |
7: 43,628,854 (GRCm39) |
N119K |
possibly damaging |
Het |
| Krtap9-3 |
C |
A |
11: 99,488,663 (GRCm39) |
C73F |
probably damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,492,562 (GRCm39) |
F1334L |
possibly damaging |
Het |
| Me3 |
A |
T |
7: 89,498,868 (GRCm39) |
T483S |
probably benign |
Het |
| Med1 |
A |
G |
11: 98,046,515 (GRCm39) |
|
probably benign |
Het |
| Med13 |
A |
G |
11: 86,191,682 (GRCm39) |
|
probably benign |
Het |
| Mvk |
C |
T |
5: 114,597,035 (GRCm39) |
T334M |
probably damaging |
Het |
| Mxra8 |
T |
A |
4: 155,927,053 (GRCm39) |
I329N |
probably damaging |
Het |
| Mybphl |
T |
C |
3: 108,282,731 (GRCm39) |
V207A |
probably damaging |
Het |
| Myom1 |
T |
C |
17: 71,344,292 (GRCm39) |
S266P |
probably damaging |
Het |
| Nr2f2 |
G |
C |
7: 70,009,923 (GRCm39) |
P52R |
probably damaging |
Het |
| Or1d2 |
A |
T |
11: 74,255,968 (GRCm39) |
I158F |
probably benign |
Het |
| Or2ag12 |
A |
G |
7: 106,276,781 (GRCm39) |
V304A |
probably benign |
Het |
| Or52b1 |
A |
T |
7: 104,979,090 (GRCm39) |
M103K |
possibly damaging |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Or5m3 |
T |
C |
2: 85,838,636 (GRCm39) |
I172T |
probably damaging |
Het |
| Or6f1 |
T |
C |
7: 85,970,854 (GRCm39) |
Y102C |
probably benign |
Het |
| Pcdhb18 |
T |
C |
18: 37,623,240 (GRCm39) |
I190T |
possibly damaging |
Het |
| Pgbd1 |
A |
C |
13: 21,618,651 (GRCm39) |
L2R |
probably damaging |
Het |
| Pkp4 |
A |
G |
2: 59,096,780 (GRCm39) |
I61V |
probably damaging |
Het |
| Pold4 |
T |
G |
19: 4,282,593 (GRCm39) |
Y58* |
probably null |
Het |
| Prex2 |
T |
A |
1: 11,355,368 (GRCm39) |
D1556E |
probably damaging |
Het |
| Psmd1 |
T |
C |
1: 86,061,463 (GRCm39) |
V891A |
possibly damaging |
Het |
| Psme3ip1 |
A |
G |
8: 95,314,639 (GRCm39) |
F73S |
probably damaging |
Het |
| Rlig1 |
T |
A |
10: 100,422,056 (GRCm39) |
K69* |
probably null |
Het |
| Rmdn2 |
T |
A |
17: 79,957,716 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,691,137 (GRCm39) |
|
probably benign |
Het |
| Scgb2b27 |
C |
A |
7: 33,711,562 (GRCm39) |
E96* |
probably null |
Het |
| Sec16b |
G |
T |
1: 157,380,505 (GRCm39) |
G359* |
probably null |
Het |
| Slc1a3 |
A |
G |
15: 8,738,040 (GRCm39) |
|
probably benign |
Het |
| Slc28a1 |
A |
T |
7: 80,767,454 (GRCm39) |
|
probably benign |
Het |
| Slc35d1 |
T |
C |
4: 103,065,351 (GRCm39) |
T177A |
probably damaging |
Het |
| Snx33 |
G |
A |
9: 56,833,508 (GRCm39) |
S187L |
probably damaging |
Het |
| Spg11 |
C |
T |
2: 121,886,177 (GRCm39) |
|
probably null |
Het |
| Spint1 |
T |
C |
2: 119,078,826 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,020,526 (GRCm39) |
H545R |
probably damaging |
Het |
| Tinag |
A |
G |
9: 76,907,134 (GRCm39) |
I367T |
probably damaging |
Het |
| Tln1 |
C |
T |
4: 43,549,151 (GRCm39) |
V644M |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Ube4b |
T |
C |
4: 149,483,094 (GRCm39) |
H58R |
probably benign |
Het |
| Ush2a |
A |
C |
1: 188,263,958 (GRCm39) |
I1612L |
probably damaging |
Het |
| Usp28 |
A |
G |
9: 48,939,569 (GRCm39) |
Y275C |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,447,333 (GRCm39) |
T578A |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,846,444 (GRCm39) |
|
probably benign |
Het |
| Vwf |
T |
C |
6: 125,614,419 (GRCm39) |
F1100S |
probably damaging |
Het |
| Zfp318 |
G |
T |
17: 46,709,945 (GRCm39) |
R556L |
probably benign |
Het |
| Zkscan1 |
T |
A |
5: 138,099,448 (GRCm39) |
C391S |
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 |
|
R0688:Pomgnt1
|
UTSW |
4 |
116,013,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0890:Pomgnt1
|
UTSW |
4 |
116,009,382 (GRCm39) |
missense |
probably benign |
0.25 |
|
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'- TTTTACCCCAATGCAGTGAGGCCG -3'
(R):5'- TCCCAAATATGGAGGCACTAGCAGG -3'
Sequencing Primer
(F):5'- GAGGTTTTGGACCACAGCAAG -3'
(R):5'- atctgcctgcctctgcc -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation