Incidental Mutation 'R3815:Pomgnt1'
ID |
274230 |
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 |
040770-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3815 (G1)
|
Quality Score |
225 |
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 A
at 116011139 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]
[ENSMUST00000121052]
|
AlphaFold |
Q91X88 |
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 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 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: 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: ENSMUST00000136855
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147612
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151325
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155718
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135982
|
Meta Mutation Damage Score |
0.9576 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
Validation Efficiency |
100% (55/55) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
C |
6: 86,936,024 (GRCm39) |
|
probably benign |
Het |
Aldh18a1 |
A |
G |
19: 40,558,944 (GRCm39) |
S299P |
probably damaging |
Het |
Ankrd6 |
A |
C |
4: 32,806,206 (GRCm39) |
S618R |
probably benign |
Het |
Apobec3 |
G |
T |
15: 79,783,301 (GRCm39) |
R126M |
possibly damaging |
Het |
Arl8b |
T |
A |
6: 108,790,658 (GRCm39) |
V65D |
probably damaging |
Het |
AW554918 |
C |
T |
18: 25,533,104 (GRCm39) |
R253C |
probably benign |
Het |
Cd177 |
A |
G |
7: 24,453,817 (GRCm39) |
V358A |
probably benign |
Het |
Cdca7l |
G |
A |
12: 117,835,948 (GRCm39) |
V95I |
probably damaging |
Het |
Ces1e |
A |
G |
8: 93,928,467 (GRCm39) |
|
probably null |
Het |
Cfap90 |
A |
G |
13: 68,759,344 (GRCm39) |
H106R |
probably damaging |
Het |
Coq5 |
T |
G |
5: 115,433,957 (GRCm39) |
F306V |
probably damaging |
Het |
Cpsf1 |
A |
G |
15: 76,485,349 (GRCm39) |
V501A |
probably benign |
Het |
Csmd1 |
C |
T |
8: 16,052,522 (GRCm39) |
A2201T |
probably damaging |
Het |
Cul5 |
T |
A |
9: 53,534,243 (GRCm39) |
I630L |
probably benign |
Het |
Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
Dedd |
A |
G |
1: 171,166,469 (GRCm39) |
E135G |
probably benign |
Het |
Ecel1 |
A |
G |
1: 87,080,622 (GRCm39) |
F368S |
probably damaging |
Het |
Ext1 |
A |
C |
15: 53,208,485 (GRCm39) |
I92S |
probably benign |
Het |
Fbxw5 |
A |
T |
2: 25,393,576 (GRCm39) |
D268V |
possibly damaging |
Het |
Flacc1 |
T |
G |
1: 58,698,164 (GRCm39) |
N379T |
probably damaging |
Het |
Gen1 |
A |
T |
12: 11,302,034 (GRCm39) |
V192E |
possibly damaging |
Het |
Gm11077 |
T |
G |
6: 140,675,041 (GRCm39) |
V11G |
unknown |
Het |
Ift88 |
A |
T |
14: 57,678,438 (GRCm39) |
E150V |
possibly damaging |
Het |
Kcna1 |
T |
C |
6: 126,620,009 (GRCm39) |
R104G |
probably damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Krt82 |
A |
G |
15: 101,459,035 (GRCm39) |
S2P |
probably damaging |
Het |
Luc7l2 |
T |
C |
6: 38,547,526 (GRCm39) |
S69P |
possibly damaging |
Het |
Ly9 |
G |
T |
1: 171,416,653 (GRCm39) |
T537N |
possibly damaging |
Het |
Mamstr |
G |
T |
7: 45,293,956 (GRCm39) |
R20L |
probably damaging |
Het |
Nav1 |
C |
A |
1: 135,398,862 (GRCm39) |
K573N |
possibly damaging |
Het |
Or5b104 |
T |
C |
19: 13,072,277 (GRCm39) |
H245R |
probably damaging |
Het |
Or8b12c |
C |
T |
9: 37,715,465 (GRCm39) |
S86L |
probably benign |
Het |
Or8b40 |
A |
T |
9: 38,027,922 (GRCm39) |
T277S |
possibly damaging |
Het |
Or8b55 |
A |
G |
9: 38,727,722 (GRCm39) |
K308E |
possibly damaging |
Het |
Palld |
T |
A |
8: 62,002,871 (GRCm39) |
|
probably benign |
Het |
Pcdha2 |
A |
G |
18: 37,074,748 (GRCm39) |
Y793C |
probably benign |
Het |
Pcdhb4 |
A |
T |
18: 37,441,065 (GRCm39) |
D125V |
probably damaging |
Het |
Ppp1r9b |
A |
T |
11: 94,883,359 (GRCm39) |
E329V |
probably damaging |
Het |
Rarres1 |
T |
A |
3: 67,422,654 (GRCm39) |
D32V |
probably benign |
Het |
Rhobtb1 |
A |
G |
10: 69,121,523 (GRCm39) |
H53R |
possibly damaging |
Het |
Ryr1 |
A |
T |
7: 28,772,327 (GRCm39) |
S2494T |
probably damaging |
Het |
Sapcd2 |
G |
A |
2: 25,263,518 (GRCm39) |
|
probably benign |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Senp1 |
A |
C |
15: 97,954,713 (GRCm39) |
D490E |
probably damaging |
Het |
Sfrp5 |
C |
T |
19: 42,187,230 (GRCm39) |
R280H |
probably benign |
Het |
Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
Skint5 |
G |
A |
4: 113,703,496 (GRCm39) |
T499I |
possibly damaging |
Het |
Smad1 |
G |
A |
8: 80,070,359 (GRCm39) |
A393V |
probably benign |
Het |
Sorl1 |
A |
G |
9: 41,975,345 (GRCm39) |
L487P |
possibly damaging |
Het |
Spire1 |
G |
T |
18: 67,639,733 (GRCm39) |
T273K |
probably benign |
Het |
Tep1 |
T |
C |
14: 51,105,772 (GRCm39) |
T83A |
possibly damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,552,077 (GRCm39) |
R29441* |
probably null |
Het |
Wdr37 |
A |
G |
13: 8,903,632 (GRCm39) |
|
probably benign |
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 |
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'- CCACCCTGTAGTATCAAGGGAG -3'
(R):5'- ATCTGCCCAGTGACACTCAG -3'
Sequencing Primer
(F):5'- CCCTGTAGTATCAAGGGAGGAGAAG -3'
(R):5'- CAGTGACACTCAGCCTCTG -3'
|
Posted On |
2015-04-02 |