Incidental Mutation 'R5108:Pomgnt1'
| ID |
393655 |
| 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 |
042696-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5108 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
116007700-116017041 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to A
at 116013453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106494]
[ENSMUST00000106496]
[ENSMUST00000106498]
[ENSMUST00000120083]
[ENSMUST00000121052]
|
| AlphaFold |
Q91X88 |
| Predicted Effect |
probably benign
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 benign
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 benign
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 benign
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 benign
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: ENSMUST00000147612
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151325
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136855
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135982
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
| Validation Efficiency |
99% (79/80) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,094,207 (GRCm39) |
N94Y |
probably damaging |
Het |
| Ak2 |
A |
G |
4: 128,896,034 (GRCm39) |
T104A |
probably damaging |
Het |
| Alox12b |
G |
T |
11: 69,048,208 (GRCm39) |
A46S |
probably benign |
Het |
| Ank1 |
G |
T |
8: 23,622,571 (GRCm39) |
V1662F |
probably benign |
Het |
| Anxa3 |
T |
C |
5: 96,978,273 (GRCm39) |
I219T |
possibly damaging |
Het |
| Aoc1l3 |
C |
T |
6: 48,965,504 (GRCm39) |
T504I |
probably damaging |
Het |
| Arhgap40 |
G |
A |
2: 158,389,599 (GRCm39) |
V588M |
probably damaging |
Het |
| Arhgef38 |
T |
C |
3: 132,843,029 (GRCm39) |
T514A |
probably benign |
Het |
| Ascl4 |
C |
A |
10: 85,764,422 (GRCm39) |
A23E |
probably benign |
Het |
| Bcl11b |
T |
C |
12: 107,931,985 (GRCm39) |
T196A |
probably benign |
Het |
| C1ra |
A |
T |
6: 124,499,881 (GRCm39) |
Y689F |
probably damaging |
Het |
| Ccr3 |
A |
G |
9: 123,828,968 (GRCm39) |
N101S |
probably benign |
Het |
| Cep70 |
A |
T |
9: 99,145,865 (GRCm39) |
|
probably null |
Het |
| Ces1b |
A |
G |
8: 93,798,541 (GRCm39) |
V215A |
probably damaging |
Het |
| Cndp1 |
A |
T |
18: 84,650,186 (GRCm39) |
I169N |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Fbxo2 |
A |
G |
4: 148,250,486 (GRCm39) |
Q275R |
probably damaging |
Het |
| Fbxo44 |
T |
C |
4: 148,243,020 (GRCm39) |
N133S |
probably damaging |
Het |
| Fzr1 |
C |
T |
10: 81,205,284 (GRCm39) |
|
probably benign |
Het |
| Grn |
T |
C |
11: 102,325,228 (GRCm39) |
S213P |
probably benign |
Het |
| Ifi203 |
A |
T |
1: 173,751,580 (GRCm39) |
C414S |
probably damaging |
Het |
| Igfn1 |
C |
T |
1: 135,910,179 (GRCm39) |
R135H |
probably benign |
Het |
| Kcnk10 |
T |
C |
12: 98,401,560 (GRCm39) |
M358V |
probably benign |
Het |
| Kcnn2 |
A |
T |
18: 45,725,122 (GRCm39) |
Y471F |
probably damaging |
Het |
| Klhl20 |
A |
T |
1: 160,926,820 (GRCm39) |
V391E |
probably damaging |
Het |
| Krt1c |
C |
T |
15: 101,721,721 (GRCm39) |
G440D |
possibly damaging |
Het |
| Lpin1 |
A |
T |
12: 16,623,716 (GRCm39) |
Y223N |
probably benign |
Het |
| Luzp2 |
G |
A |
7: 54,915,038 (GRCm39) |
C321Y |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,338,536 (GRCm39) |
V1388A |
probably benign |
Het |
| Mdga2 |
A |
T |
12: 66,533,515 (GRCm39) |
H223Q |
probably benign |
Het |
| Mgat4e |
G |
T |
1: 134,468,961 (GRCm39) |
P361Q |
probably benign |
Het |
| Mylk3 |
A |
T |
8: 86,085,721 (GRCm39) |
I208N |
possibly damaging |
Het |
| Myom2 |
T |
A |
8: 15,182,667 (GRCm39) |
V1368E |
probably damaging |
Het |
| Mypn |
C |
T |
10: 62,972,073 (GRCm39) |
D656N |
probably damaging |
Het |
| Nat10 |
C |
A |
2: 103,562,548 (GRCm39) |
R596L |
probably damaging |
Het |
| Nek8 |
T |
C |
11: 78,063,353 (GRCm39) |
D137G |
probably damaging |
Het |
| Neurl1a |
A |
G |
19: 47,246,074 (GRCm39) |
K552E |
probably damaging |
Het |
| Npdc1 |
C |
T |
2: 25,298,667 (GRCm39) |
H260Y |
probably damaging |
Het |
| Nuggc |
A |
T |
14: 65,876,129 (GRCm39) |
I581F |
probably damaging |
Het |
| Or8d23 |
T |
A |
9: 38,842,151 (GRCm39) |
I228N |
probably damaging |
Het |
| P2rx6 |
T |
C |
16: 17,380,037 (GRCm39) |
Y54H |
probably damaging |
Het |
| Pcmtd2 |
A |
G |
2: 181,486,216 (GRCm39) |
E112G |
probably damaging |
Het |
| Pcnx4 |
G |
A |
12: 72,620,855 (GRCm39) |
V892I |
probably benign |
Het |
| Pdss1 |
T |
A |
2: 22,796,895 (GRCm39) |
V136E |
possibly damaging |
Het |
| Pias3 |
T |
C |
3: 96,612,253 (GRCm39) |
L561P |
possibly damaging |
Het |
| Scn2a |
C |
T |
2: 65,518,974 (GRCm39) |
T400I |
probably damaging |
Het |
| Sec24d |
T |
A |
3: 123,099,434 (GRCm39) |
|
probably null |
Het |
| Sftpb |
T |
G |
6: 72,281,640 (GRCm39) |
L11R |
probably damaging |
Het |
| Slc22a19 |
A |
G |
19: 7,688,536 (GRCm39) |
I8T |
probably benign |
Het |
| Slc22a30 |
A |
G |
19: 8,363,790 (GRCm39) |
S266P |
probably damaging |
Het |
| Slc36a2 |
C |
A |
11: 55,050,214 (GRCm39) |
G465W |
probably damaging |
Het |
| Slc4a2 |
G |
A |
5: 24,644,331 (GRCm39) |
M976I |
probably damaging |
Het |
| Smcr8 |
C |
T |
11: 60,670,696 (GRCm39) |
Q615* |
probably null |
Het |
| Sobp |
T |
C |
10: 43,036,815 (GRCm39) |
E41G |
probably damaging |
Het |
| Spopfm1 |
C |
T |
3: 94,173,142 (GRCm39) |
S50L |
probably damaging |
Het |
| Spz1 |
A |
T |
13: 92,711,554 (GRCm39) |
C307* |
probably null |
Het |
| Sult1d1 |
C |
T |
5: 87,711,728 (GRCm39) |
|
probably null |
Het |
| Tas2r110 |
T |
C |
6: 132,845,668 (GRCm39) |
M233T |
probably damaging |
Het |
| Tmc3 |
C |
A |
7: 83,269,156 (GRCm39) |
S781R |
probably damaging |
Het |
| Tmem234 |
G |
T |
4: 129,495,730 (GRCm39) |
|
probably benign |
Het |
| Trpm3 |
A |
T |
19: 22,882,078 (GRCm39) |
Q645L |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,565,055 (GRCm39) |
V28391F |
probably damaging |
Het |
| Txnrd3 |
G |
T |
6: 89,650,016 (GRCm39) |
A425S |
probably benign |
Het |
| Ubr1 |
C |
T |
2: 120,793,903 (GRCm39) |
G94R |
probably benign |
Het |
| Ufl1 |
A |
G |
4: 25,269,026 (GRCm39) |
|
probably null |
Het |
| Utp20 |
T |
C |
10: 88,604,735 (GRCm39) |
D1720G |
probably benign |
Het |
| Vmn1r13 |
T |
A |
6: 57,186,901 (GRCm39) |
M20K |
probably benign |
Het |
| Vmn1r61 |
A |
G |
7: 5,613,519 (GRCm39) |
I265T |
probably benign |
Het |
| Zfp120 |
T |
C |
2: 149,961,862 (GRCm39) |
T29A |
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 |
|
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 |
|
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'- TAGCCTTCATAATGTCCTGTGACC -3'
(R):5'- ACAGGGCCTCAGAGTAATGC -3'
Sequencing Primer
(F):5'- CACAGCTGTGGGATTGGGAC -3'
(R):5'- GAGTAATGCTCTTCCTGTCTCAG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation