Incidental Mutation 'IGL00814:Pomk'
| ID |
8463 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pomk
|
| Ensembl Gene |
ENSMUSG00000037251 |
| Gene Name |
protein-O-mannose kinase |
| Synonyms |
4930444A02Rik, Sgk196 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.250)
|
| Stock # |
IGL00814
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
26470632-26484149 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26473624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 110
(T110A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061850]
|
| AlphaFold |
Q3TUA9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061850
AA Change: T110A
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000053802
Gene: ENSMUSG00000037251
AA Change: T110A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
80 |
207 |
2e-6 |
PFAM |
|
Pfam:Pkinase_Tyr
|
80 |
215 |
5.9e-11 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a gene trap insertion show hydrocephaly and cerebellar dysplasia. Mice also show learning defects, impaired motor strength and decreased sensitivity to pain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cops6 |
G |
T |
5: 138,161,640 (GRCm39) |
R58L |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,470,894 (GRCm39) |
M262K |
probably damaging |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Gria4 |
A |
T |
9: 4,472,202 (GRCm39) |
M429K |
probably damaging |
Het |
| Hipk2 |
G |
A |
6: 38,795,484 (GRCm39) |
R262W |
probably damaging |
Het |
| Kif23 |
A |
T |
9: 61,844,389 (GRCm39) |
I143K |
possibly damaging |
Het |
| Mbtd1 |
T |
A |
11: 93,834,666 (GRCm39) |
S615T |
possibly damaging |
Het |
| Nlrp9c |
C |
T |
7: 26,084,175 (GRCm39) |
S468N |
probably benign |
Het |
| Nt5c2 |
A |
T |
19: 46,886,087 (GRCm39) |
D212E |
probably benign |
Het |
| Or52e19 |
A |
T |
7: 102,959,014 (GRCm39) |
I29L |
probably benign |
Het |
| Pck2 |
T |
C |
14: 55,785,756 (GRCm39) |
|
probably benign |
Het |
| Pdcd6ip |
T |
C |
9: 113,516,721 (GRCm39) |
Q230R |
probably damaging |
Het |
| Psg23 |
C |
T |
7: 18,348,608 (GRCm39) |
W66* |
probably null |
Het |
| Rnf144b |
T |
C |
13: 47,373,964 (GRCm39) |
|
probably benign |
Het |
| Sppl2c |
G |
A |
11: 104,077,805 (GRCm39) |
G202S |
possibly damaging |
Het |
| Thnsl2 |
A |
C |
6: 71,116,867 (GRCm39) |
L95R |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,637,511 (GRCm39) |
V12248A |
probably benign |
Het |
|
| Other mutations in Pomk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02678:Pomk
|
APN |
8 |
26,473,135 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03090:Pomk
|
APN |
8 |
26,473,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1302:Pomk
|
UTSW |
8 |
26,473,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3105:Pomk
|
UTSW |
8 |
26,472,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Pomk
|
UTSW |
8 |
26,473,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5106:Pomk
|
UTSW |
8 |
26,476,404 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5343:Pomk
|
UTSW |
8 |
26,473,044 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5572:Pomk
|
UTSW |
8 |
26,473,218 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5953:Pomk
|
UTSW |
8 |
26,473,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6150:Pomk
|
UTSW |
8 |
26,473,284 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6295:Pomk
|
UTSW |
8 |
26,472,955 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8719:Pomk
|
UTSW |
8 |
26,473,503 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8841:Pomk
|
UTSW |
8 |
26,476,407 (GRCm39) |
missense |
probably benign |
|
|
R8900:Pomk
|
UTSW |
8 |
26,473,384 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9495:Pomk
|
UTSW |
8 |
26,473,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9572:Pomk
|
UTSW |
8 |
26,472,936 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9756:Pomk
|
UTSW |
8 |
26,472,918 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2012-12-06 |
Incidental Mutation