Incidental Mutation 'R4719:Pomgnt1'
| ID |
354291 |
| 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 |
041957-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4719 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
116007700-116017041 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116012972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 420
(Y420H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106494]
[ENSMUST00000106496]
[ENSMUST00000106498]
[ENSMUST00000120083]
[ENSMUST00000121052]
|
| AlphaFold |
Q91X88 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106494
AA Change: Y398H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102103
Gene: ENSMUSG00000028700
AA Change: Y398H
| 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: Y387H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102105
Gene: ENSMUSG00000028700
AA Change: Y387H
| 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: Y420H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102107
Gene: ENSMUSG00000028700
AA Change: Y420H
| 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: Y420H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112751
Gene: ENSMUSG00000028700
AA Change: Y420H
| 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: Y420H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112911
Gene: ENSMUSG00000028700
AA Change: Y420H
| 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: ENSMUST00000136855
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151325
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135982
|
| Meta Mutation Damage Score |
0.8999 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
99% (76/77) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,089,971 (GRCm39) |
Y971C |
probably damaging |
Het |
| Actr5 |
T |
A |
2: 158,468,433 (GRCm39) |
S188T |
probably damaging |
Het |
| Adamtsl4 |
A |
G |
3: 95,586,896 (GRCm39) |
|
probably null |
Het |
| Agbl2 |
A |
G |
2: 90,645,733 (GRCm39) |
N822S |
probably benign |
Het |
| Ankdd1b |
T |
A |
13: 96,554,255 (GRCm39) |
|
probably benign |
Het |
| Arhgef40 |
C |
T |
14: 52,242,395 (GRCm39) |
|
probably benign |
Het |
| Art5 |
A |
G |
7: 101,747,701 (GRCm39) |
|
probably null |
Het |
| Atpsckmt |
T |
G |
15: 31,608,243 (GRCm39) |
V98G |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,046,390 (GRCm39) |
|
probably benign |
Het |
| Car9 |
G |
A |
4: 43,508,616 (GRCm39) |
W42* |
probably null |
Het |
| Cdh20 |
T |
C |
1: 104,862,035 (GRCm39) |
Y72H |
probably damaging |
Het |
| Ces1g |
T |
C |
8: 94,043,718 (GRCm39) |
D407G |
possibly damaging |
Het |
| Cngb3 |
T |
A |
4: 19,309,562 (GRCm39) |
D73E |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,945,451 (GRCm39) |
F888I |
probably damaging |
Het |
| Dgat2 |
T |
C |
7: 98,807,504 (GRCm39) |
D222G |
probably benign |
Het |
| Dscaml1 |
T |
C |
9: 45,583,993 (GRCm39) |
M486T |
probably benign |
Het |
| Faim2 |
C |
T |
15: 99,425,460 (GRCm39) |
|
probably null |
Het |
| Fance |
T |
C |
17: 28,537,293 (GRCm39) |
|
probably benign |
Het |
| Fancm |
G |
T |
12: 65,168,480 (GRCm39) |
M1614I |
possibly damaging |
Het |
| Fcrl5 |
A |
T |
3: 87,351,496 (GRCm39) |
N248I |
probably damaging |
Het |
| Foxo3 |
G |
A |
10: 42,073,774 (GRCm39) |
R29W |
probably damaging |
Het |
| Gabbr2 |
A |
G |
4: 46,718,797 (GRCm39) |
Y74H |
probably damaging |
Het |
| Gatd1 |
A |
C |
7: 140,990,981 (GRCm39) |
D55E |
probably benign |
Het |
| Gpr152 |
C |
A |
19: 4,193,223 (GRCm39) |
Q255K |
possibly damaging |
Het |
| Havcr1 |
A |
G |
11: 46,643,268 (GRCm39) |
T63A |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,118,865 (GRCm39) |
|
probably null |
Het |
| Ifit3b |
A |
T |
19: 34,590,030 (GRCm39) |
Q402L |
probably damaging |
Het |
| Ints3 |
A |
G |
3: 90,322,828 (GRCm39) |
L134S |
probably benign |
Het |
| Kcna10 |
A |
G |
3: 107,102,217 (GRCm39) |
T283A |
probably benign |
Het |
| Kmt2e |
A |
C |
5: 23,697,313 (GRCm39) |
R590S |
probably damaging |
Het |
| Lefty1 |
A |
T |
1: 180,765,277 (GRCm39) |
N282Y |
probably benign |
Het |
| Loxl4 |
T |
A |
19: 42,596,030 (GRCm39) |
Y141F |
probably benign |
Het |
| Lrrn2 |
T |
C |
1: 132,866,915 (GRCm39) |
V660A |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,824,935 (GRCm39) |
S1517P |
probably benign |
Het |
| Mcoln2 |
A |
G |
3: 145,881,468 (GRCm39) |
H208R |
probably benign |
Het |
| Mdga2 |
C |
T |
12: 66,517,775 (GRCm39) |
|
probably benign |
Het |
| Mpp2 |
T |
A |
11: 101,955,259 (GRCm39) |
E122V |
possibly damaging |
Het |
| Mrgprb5 |
T |
C |
7: 47,818,526 (GRCm39) |
N70D |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,343,500 (GRCm39) |
E37D |
possibly damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,274,722 (GRCm39) |
|
probably null |
Het |
| Ncoa6 |
T |
C |
2: 155,233,081 (GRCm39) |
|
probably benign |
Het |
| Nfib |
C |
A |
4: 82,422,967 (GRCm39) |
|
probably null |
Het |
| Nostrin |
G |
T |
2: 68,975,156 (GRCm39) |
G24* |
probably null |
Het |
| Nudc |
A |
G |
4: 133,260,576 (GRCm39) |
Y293H |
probably damaging |
Het |
| Or51a42 |
T |
A |
7: 103,707,940 (GRCm39) |
N290Y |
probably damaging |
Het |
| Pcmtd1 |
T |
A |
1: 7,225,325 (GRCm39) |
Y41* |
probably null |
Het |
| Pigt |
T |
C |
2: 164,343,544 (GRCm39) |
L340P |
probably damaging |
Het |
| Pramel6 |
C |
T |
2: 87,341,096 (GRCm39) |
T476I |
probably benign |
Het |
| Ptprn2 |
T |
A |
12: 116,788,016 (GRCm39) |
H118Q |
possibly damaging |
Het |
| Rasl10a |
G |
A |
11: 5,008,517 (GRCm39) |
S71N |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,310,893 (GRCm39) |
I804V |
probably benign |
Het |
| Rps4l-ps |
T |
C |
7: 114,526,537 (GRCm39) |
|
noncoding transcript |
Het |
| Sash1 |
T |
A |
10: 8,605,477 (GRCm39) |
H971L |
probably benign |
Het |
| Secisbp2 |
T |
A |
13: 51,806,768 (GRCm39) |
F54L |
possibly damaging |
Het |
| Senp1 |
A |
T |
15: 97,954,731 (GRCm39) |
H484Q |
probably benign |
Het |
| Slc12a1 |
T |
C |
2: 124,995,913 (GRCm39) |
I22T |
possibly damaging |
Het |
| Slc25a36 |
A |
G |
9: 96,972,172 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
A |
7: 127,140,731 (GRCm39) |
S1443T |
probably benign |
Het |
| Sv2c |
T |
C |
13: 96,123,319 (GRCm39) |
T385A |
probably benign |
Het |
| Tas2r131 |
T |
A |
6: 132,933,936 (GRCm39) |
H291L |
probably damaging |
Het |
| Thbs3 |
A |
G |
3: 89,124,147 (GRCm39) |
D80G |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,908,394 (GRCm39) |
S1349L |
probably damaging |
Het |
| Toporsl |
A |
G |
4: 52,611,996 (GRCm39) |
R630G |
probably benign |
Het |
| Vmn1r43 |
C |
A |
6: 89,846,837 (GRCm39) |
M216I |
probably benign |
Het |
| Wdr17 |
T |
A |
8: 55,092,911 (GRCm39) |
E1068D |
probably benign |
Het |
| Wnt10a |
G |
A |
1: 74,842,762 (GRCm39) |
V413I |
probably damaging |
Het |
| Zfp141 |
T |
C |
7: 42,126,111 (GRCm39) |
|
probably null |
Het |
| Zfp169 |
T |
C |
13: 48,643,634 (GRCm39) |
I498V |
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 |
|
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 |
|
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'- CTTGGAGAGCTTTGAATGAGC -3'
(R):5'- TTCCTGAGCACCCATCCTAG -3'
Sequencing Primer
(F):5'- CTTGTCTAGCTAGGAGGGCAG -3'
(R):5'- ATCCTAGCCCAGGCATGGTC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation