Incidental Mutation 'R4447:Pomgnt1'
| ID | 328793 |
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| Institutional Source |
Beutler Lab
|
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| Gene Symbol |
Pomgnt1
|
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| Ensembl Gene |
ENSMUSG00000028700 |
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| Gene Name | protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase |
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| Synonyms | 0610016I07Rik, 4930467B06Rik |
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| MMRRC Submission |
041708-MU
|
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| Accession Numbers | |
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| Is this an essential gene? |
Non essential (E-score: 0.000)
|
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| Stock # | R4447 (G1)
|
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| Quality Score | 225 |
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| Status |
Validated
|
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| Chromosome | 4 |
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| Chromosomal Location | 116123840-116159849 bp(+) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
G to T
at 116152923 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Valine to Leucine
at position 161
(V161L)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000112911
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106494]
[ENSMUST00000106496]
[ENSMUST00000106498]
[ENSMUST00000120083]
[ENSMUST00000121052]
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000106494
AA Change: V139L
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
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| SMART Domains |
Protein: ENSMUSP00000102103
Gene: ENSMUSG00000028700
AA Change: V139L
| 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 |
|
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| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106496
AA Change: V161L
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
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| SMART Domains |
Protein: ENSMUSP00000102105
Gene: ENSMUSG00000028700
AA Change: V161L
| 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 |
|
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| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106498
AA Change: V161L
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
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| SMART Domains |
Protein: ENSMUSP00000102107
Gene: ENSMUSG00000028700
AA Change: V161L
| 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 |
|
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| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120083
AA Change: V161L
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
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| SMART Domains |
Protein: ENSMUSP00000112751
Gene: ENSMUSG00000028700
AA Change: V161L
| 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 |
|
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| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121052
AA Change: V161L
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
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| SMART Domains |
Protein: ENSMUSP00000112911
Gene: ENSMUSG00000028700
AA Change: V161L
| 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 |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127426
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133838
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135982
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136855
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147612
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151325
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155718
|
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| Meta Mutation Damage Score |
0.156
|
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| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
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| Validation Efficiency |
100% (32/32) |
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| 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]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700014D04Rik |
T |
C |
13: 59,742,198 |
T603A |
probably benign |
Het |
| 3930402G23Rik |
T |
A |
8: 10,926,129 |
|
noncoding transcript |
Het |
| Acsf2 |
G |
T |
11: 94,569,359 |
P389Q |
possibly damaging |
Het |
| Aldh6a1 |
A |
G |
12: 84,439,709 |
V120A |
possibly damaging |
Het |
| Alg11 |
C |
A |
8: 22,068,079 |
A469E |
probably benign |
Het |
| Ankar |
A |
G |
1: 72,687,789 |
S415P |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,761,578 |
|
probably null |
Het |
| Asic4 |
A |
T |
1: 75,470,370 |
|
probably benign |
Het |
| Atp1a4 |
A |
C |
1: 172,234,431 |
I709S |
probably damaging |
Het |
| Cyp11b2 |
T |
C |
15: 74,855,563 |
I90V |
probably benign |
Het |
| Fam129a |
A |
T |
1: 151,636,402 |
|
probably null |
Het |
| Galnt2 |
A |
G |
8: 124,295,377 |
D14G |
probably benign |
Het |
| Iqcm |
T |
C |
8: 75,629,766 |
S176P |
probably damaging |
Het |
| Irf5 |
T |
A |
6: 29,535,942 |
D318E |
probably damaging |
Het |
| Map2k3 |
A |
T |
11: 60,947,171 |
S253C |
probably damaging |
Het |
| Mgst1 |
G |
T |
6: 138,141,664 |
|
probably benign |
Het |
| Mipol1 |
G |
T |
12: 57,352,748 |
|
probably benign |
Het |
| Olfr371 |
T |
A |
8: 85,231,366 |
Y290* |
probably null |
Het |
| Rnpc3 |
T |
C |
3: 113,611,137 |
|
probably benign |
Het |
| Rxfp1 |
C |
T |
3: 79,652,127 |
|
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,550,627 |
D197G |
probably damaging |
Het |
| Thsd7a |
G |
A |
6: 12,324,635 |
T1479I |
probably damaging |
Het |
| Twsg1 |
C |
T |
17: 65,929,787 |
D83N |
possibly damaging |
Het |
| Ubqln3 |
C |
T |
7: 104,142,814 |
R23Q |
probably benign |
Het |
| Vmn1r228 |
T |
C |
17: 20,777,107 |
I50V |
probably damaging |
Het |
| Wnk4 |
T |
A |
11: 101,268,451 |
S565T |
possibly damaging |
Het |
| Wwc2 |
A |
G |
8: 47,868,667 |
Y471H |
unknown |
Het |
| Zfp407 |
A |
T |
18: 84,562,694 |
V98D |
possibly damaging |
Het |
| Zfp598 |
T |
A |
17: 24,676,555 |
V73E |
probably damaging |
Het |
| Zscan29 |
T |
A |
2: 121,169,886 |
|
probably null |
Het |
|
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| Other mutations in Pomgnt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00534:Pomgnt1
|
APN |
4 |
116152761 |
missense |
probably damaging |
1.00 |
|
IGL02001:Pomgnt1
|
APN |
4 |
116152908 |
nonsense |
probably null |
|
|
IGL02582:Pomgnt1
|
APN |
4 |
116158550 |
missense |
probably damaging |
1.00 |
|
pomegranate
|
UTSW |
4 |
116154890 |
missense |
probably damaging |
1.00 |
|
R0206:Pomgnt1
|
UTSW |
4 |
116158560 |
critical splice donor site |
probably null |
|
|
R0688:Pomgnt1
|
UTSW |
4 |
116155889 |
missense |
probably damaging |
1.00 |
|
R0890:Pomgnt1
|
UTSW |
4 |
116152185 |
missense |
probably benign |
0.25 |
|
R0927:Pomgnt1
|
UTSW |
4 |
116151851 |
missense |
probably damaging |
1.00 |
|
R1942:Pomgnt1
|
UTSW |
4 |
116155275 |
splice site |
probably null |
|
|
R1983:Pomgnt1
|
UTSW |
4 |
116151869 |
missense |
probably damaging |
1.00 |
|
R1983:Pomgnt1
|
UTSW |
4 |
116151920 |
missense |
probably benign |
0.12 |
|
R2034:Pomgnt1
|
UTSW |
4 |
116157927 |
missense |
possibly damaging |
0.87 |
|
R3721:Pomgnt1
|
UTSW |
4 |
116153543 |
splice site |
probably benign |
|
|
R3774:Pomgnt1
|
UTSW |
4 |
116154128 |
missense |
probably damaging |
1.00 |
|
R3775:Pomgnt1
|
UTSW |
4 |
116154128 |
missense |
probably damaging |
1.00 |
|
R3815:Pomgnt1
|
UTSW |
4 |
116153942 |
critical splice donor site |
probably null |
|
|
R3816:Pomgnt1
|
UTSW |
4 |
116153942 |
critical splice donor site |
probably null |
|
|
R3817:Pomgnt1
|
UTSW |
4 |
116153942 |
critical splice donor site |
probably null |
|
|
R3818:Pomgnt1
|
UTSW |
4 |
116153942 |
critical splice donor site |
probably null |
|
|
R4583:Pomgnt1
|
UTSW |
4 |
116158494 |
missense |
probably benign |
0.03 |
|
R4616:Pomgnt1
|
UTSW |
4 |
116154890 |
missense |
probably damaging |
1.00 |
|
R4690:Pomgnt1
|
UTSW |
4 |
116155510 |
missense |
probably damaging |
1.00 |
|
R4717:Pomgnt1
|
UTSW |
4 |
116154215 |
missense |
possibly damaging |
0.50 |
|
R4719:Pomgnt1
|
UTSW |
4 |
116155775 |
missense |
probably damaging |
1.00 |
|
R4747:Pomgnt1
|
UTSW |
4 |
116156199 |
missense |
probably damaging |
1.00 |
|
R5108:Pomgnt1
|
UTSW |
4 |
116156256 |
intron |
probably benign |
|
|
R5569:Pomgnt1
|
UTSW |
4 |
116155967 |
missense |
probably damaging |
1.00 |
|
R5821:Pomgnt1
|
UTSW |
4 |
116155736 |
missense |
probably benign |
0.16 |
|
R5937:Pomgnt1
|
UTSW |
4 |
116153913 |
missense |
probably benign |
0.01 |
|
R6052:Pomgnt1
|
UTSW |
4 |
116151602 |
missense |
possibly damaging |
0.91 |
|
R6745:Pomgnt1
|
UTSW |
4 |
116153883 |
missense |
probably damaging |
0.97 |
|
R6949:Pomgnt1
|
UTSW |
4 |
116154154 |
missense |
probably damaging |
0.97 |
|
R7503:Pomgnt1
|
UTSW |
4 |
116152752 |
missense |
possibly damaging |
0.76 |
|
T0722:Pomgnt1
|
UTSW |
4 |
116137427 |
unclassified |
probably benign |
|
|
T0975:Pomgnt1
|
UTSW |
4 |
116137427 |
unclassified |
probably benign |
|
|
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| Predicted Primers |
PCR Primer
(F):5'- TGTCATAGTCCTCAACCAGGC -3'
(R):5'- ACTACTGGCTGAGCTGACTG -3'
Sequencing Primer
(F):5'- CAGGCCACGGTGAGCTTAAG -3'
(R):5'- ATTCAATGCTGCAGTACCTGG -3'
|
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| Posted On | 2015-07-21 |
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