Incidental Mutation 'R7876:Pomgnt1'
ID |
608423 |
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 |
045928-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7876 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
116007700-116017041 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 116015106 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Methionine
at position 519
(K519M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102107
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030465]
[ENSMUST00000106494]
[ENSMUST00000106496]
[ENSMUST00000106498]
[ENSMUST00000120083]
[ENSMUST00000121052]
|
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 damaging
Transcript: ENSMUST00000106494
AA Change: K497M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102103 Gene: ENSMUSG00000028700 AA Change: K497M
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 damaging
Transcript: ENSMUST00000106496
AA Change: K486M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102105 Gene: ENSMUSG00000028700 AA Change: K486M
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 damaging
Transcript: ENSMUST00000106498
AA Change: K519M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102107 Gene: ENSMUSG00000028700 AA Change: K519M
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 damaging
Transcript: ENSMUST00000120083
AA Change: K519M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112751 Gene: ENSMUSG00000028700 AA Change: K519M
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 damaging
Transcript: ENSMUST00000121052
AA Change: K519M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112911 Gene: ENSMUSG00000028700 AA Change: K519M
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (56/56) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr2a |
A |
G |
2: 48,760,439 (GRCm39) |
K65R |
probably benign |
Het |
Adprhl1 |
T |
C |
8: 13,273,509 (GRCm39) |
D1083G |
probably benign |
Het |
Aox1 |
C |
T |
1: 58,101,330 (GRCm39) |
Q434* |
probably null |
Het |
Atp13a5 |
T |
A |
16: 29,140,566 (GRCm39) |
N330I |
possibly damaging |
Het |
Brd8 |
A |
G |
18: 34,739,740 (GRCm39) |
F678L |
probably benign |
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
C87436 |
T |
A |
6: 86,423,411 (GRCm39) |
|
probably null |
Het |
Cacna1h |
A |
T |
17: 25,594,225 (GRCm39) |
I2311K |
probably benign |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Cux1 |
T |
C |
5: 136,392,161 (GRCm39) |
T187A |
probably benign |
Het |
Dip2b |
A |
G |
15: 100,088,922 (GRCm39) |
I1031V |
probably benign |
Het |
Efna5 |
T |
C |
17: 62,957,929 (GRCm39) |
N109S |
possibly damaging |
Het |
Fat2 |
A |
T |
11: 55,202,046 (GRCm39) |
S343T |
probably benign |
Het |
Fubp1 |
T |
C |
3: 151,937,928 (GRCm39) |
Y654H |
unknown |
Het |
Gbe1 |
G |
A |
16: 70,238,059 (GRCm39) |
V282I |
probably benign |
Het |
Grik1 |
T |
C |
16: 87,720,121 (GRCm39) |
K719E |
|
Het |
Grm6 |
A |
T |
11: 50,750,457 (GRCm39) |
Y540F |
probably damaging |
Het |
Hmcn1 |
C |
T |
1: 150,620,722 (GRCm39) |
V1163I |
probably benign |
Het |
Igkv4-53 |
T |
A |
6: 69,625,987 (GRCm39) |
Q60L |
possibly damaging |
Het |
Igkv4-59 |
A |
T |
6: 69,415,337 (GRCm39) |
S73T |
probably damaging |
Het |
Il1a |
A |
C |
2: 129,142,762 (GRCm39) |
W228G |
probably damaging |
Het |
Klk13 |
A |
G |
7: 43,370,403 (GRCm39) |
D22G |
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,913,850 (GRCm39) |
C602S |
probably damaging |
Het |
Kras |
T |
C |
6: 145,170,848 (GRCm39) |
K176E |
probably benign |
Het |
Krtap5-4 |
G |
A |
7: 141,857,585 (GRCm39) |
C85Y |
unknown |
Het |
Map3k13 |
A |
G |
16: 21,741,069 (GRCm39) |
T799A |
probably benign |
Het |
Mfhas1 |
T |
C |
8: 36,056,697 (GRCm39) |
Y391H |
probably damaging |
Het |
Morf4l1 |
G |
A |
9: 89,975,859 (GRCm39) |
A311V |
possibly damaging |
Het |
Ms4a8a |
T |
A |
19: 11,056,848 (GRCm39) |
Q78L |
probably damaging |
Het |
Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
Nav3 |
T |
C |
10: 109,689,359 (GRCm39) |
N306S |
probably benign |
Het |
Ncapd3 |
T |
C |
9: 26,956,519 (GRCm39) |
|
probably null |
Het |
Nrg2 |
T |
A |
18: 36,330,140 (GRCm39) |
Y25F |
unknown |
Het |
Nup153 |
C |
T |
13: 46,835,084 (GRCm39) |
S1407N |
probably benign |
Het |
Or2c1 |
T |
A |
16: 3,656,658 (GRCm39) |
|
probably null |
Het |
Or4c99 |
A |
G |
2: 88,329,999 (GRCm39) |
Y190C |
probably damaging |
Het |
Or5b123 |
A |
G |
19: 13,596,628 (GRCm39) |
Y34C |
probably damaging |
Het |
Pcf11 |
A |
C |
7: 92,310,534 (GRCm39) |
S485A |
probably damaging |
Het |
Pde8a |
A |
G |
7: 80,973,819 (GRCm39) |
D592G |
probably damaging |
Het |
Perm1 |
G |
A |
4: 156,302,046 (GRCm39) |
G197R |
probably damaging |
Het |
Pigo |
A |
T |
4: 43,020,671 (GRCm39) |
M757K |
probably benign |
Het |
Pls1 |
G |
A |
9: 95,667,558 (GRCm39) |
Q117* |
probably null |
Het |
Plscr2 |
T |
C |
9: 92,169,781 (GRCm39) |
V77A |
probably benign |
Het |
Polm |
T |
C |
11: 5,781,695 (GRCm39) |
E267G |
probably benign |
Het |
Ralyl |
G |
A |
3: 14,104,850 (GRCm39) |
|
probably null |
Het |
Rhbdd3 |
C |
T |
11: 5,055,832 (GRCm39) |
T338I |
possibly damaging |
Het |
Rnf31 |
T |
C |
14: 55,830,534 (GRCm39) |
|
probably null |
Het |
Slc51a |
A |
T |
16: 32,297,601 (GRCm39) |
S99T |
probably benign |
Het |
Sorbs1 |
A |
T |
19: 40,285,032 (GRCm39) |
L700H |
probably damaging |
Het |
Tdrd7 |
G |
A |
4: 46,025,684 (GRCm39) |
V835I |
probably benign |
Het |
Tmcc3 |
T |
C |
10: 94,414,397 (GRCm39) |
V64A |
probably benign |
Het |
Tmprss5 |
A |
G |
9: 49,020,391 (GRCm39) |
S140G |
probably benign |
Het |
Tspan11 |
G |
T |
6: 127,900,629 (GRCm39) |
V67F |
possibly damaging |
Het |
Usp42 |
T |
C |
5: 143,707,426 (GRCm39) |
T252A |
probably damaging |
Het |
Vmn2r97 |
A |
T |
17: 19,149,326 (GRCm39) |
E238V |
probably damaging |
Het |
Wdpcp |
T |
A |
11: 21,661,486 (GRCm39) |
W253R |
probably benign |
Het |
Zdhhc23 |
A |
T |
16: 43,789,663 (GRCm39) |
V375E |
probably damaging |
Het |
Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
probably damaging |
Het |
Zmym1 |
A |
T |
4: 126,941,496 (GRCm39) |
M964K |
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 |
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 |
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'- TCAGTAGCTTGAGCCAAGGG -3'
(R):5'- ATATCAGGAGAGTCCCTCAGGTC -3'
Sequencing Primer
(F):5'- CTTGAGCCAAGGGACCAGAC -3'
(R):5'- AGTCCCTCAGGTCCATGGAAAG -3'
|
Posted On |
2019-12-20 |