Incidental Mutation 'R8028:Poglut1'
| ID |
628877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Poglut1
|
| Ensembl Gene |
ENSMUSG00000034064 |
| Gene Name |
protein O-glucosyltransferase 1 |
| Synonyms |
Ktelc1, wsnp, 9630046K23Rik, Rumi |
| MMRRC Submission |
067467-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8028 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
38345499-38370620 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38355095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 244
(S244P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036210]
|
| AlphaFold |
Q8BYB9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036210
AA Change: S244P
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000038166
Gene: ENSMUSG00000034064
AA Change: S244P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
CAP10
|
121 |
373 |
6.69e-102 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.0%
- 20x: 96.4%
|
| Validation Efficiency |
97% (35/36) |
| MGI Phenotype |
FUNCTION: This gene encodes a protein that can catalyze transfer of either UDP-glucose or UDP-xylose to epidermal growth factor (EGF) repeats, such as those found in Notch. Loss of this gene product results in embryonic lethality. Embryos have neural plate defects, heart defects, and truncations of their posterior axis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit complete embryonic lethality during organogenesis, embryonic growth retardation, caudal body truncation, and severe defects in neural tube development, somitogenesis, cardiogenesis, and vascular remodeling. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
G |
A |
17: 24,626,671 (GRCm39) |
R1500Q |
probably benign |
Het |
| Arhgap21 |
C |
T |
2: 20,885,216 (GRCm39) |
V664M |
probably benign |
Het |
| Arhgef11 |
T |
C |
3: 87,642,859 (GRCm39) |
V1464A |
probably benign |
Het |
| Ccdc121 |
G |
T |
5: 31,645,266 (GRCm39) |
V340F |
possibly damaging |
Het |
| Ccdc158 |
G |
T |
5: 92,782,110 (GRCm39) |
H836Q |
probably damaging |
Het |
| Clcn2 |
T |
A |
16: 20,527,512 (GRCm39) |
Y584F |
possibly damaging |
Het |
| Csn1s2b |
G |
T |
5: 87,966,951 (GRCm39) |
M84I |
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gimap4 |
A |
T |
6: 48,667,684 (GRCm39) |
R146S |
probably damaging |
Het |
| Gm20671 |
T |
C |
5: 32,952,958 (GRCm39) |
N184S |
possibly damaging |
Het |
| Gpr179 |
T |
C |
11: 97,228,627 (GRCm39) |
E1176G |
probably damaging |
Het |
| Hif1a |
T |
C |
12: 73,988,801 (GRCm39) |
S589P |
probably benign |
Het |
| Kcna7 |
T |
A |
7: 45,058,947 (GRCm39) |
C411* |
probably null |
Het |
| Kel |
C |
T |
6: 41,675,958 (GRCm39) |
S244N |
probably benign |
Het |
| Lama2 |
A |
T |
10: 27,204,145 (GRCm39) |
S498T |
probably benign |
Het |
| Map4 |
C |
T |
9: 109,897,812 (GRCm39) |
T846I |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,194,502 (GRCm39) |
V1571A |
possibly damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,269,472 (GRCm39) |
T47A |
probably benign |
Het |
| Parl |
T |
C |
16: 20,098,801 (GRCm39) |
K353E |
probably benign |
Het |
| Pcdhb17 |
G |
A |
18: 37,620,502 (GRCm39) |
S764N |
probably benign |
Het |
| Polq |
C |
T |
16: 36,881,678 (GRCm39) |
H1281Y |
possibly damaging |
Het |
| Rsf1 |
CG |
CGACCGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sardh |
C |
T |
2: 27,120,467 (GRCm39) |
M438I |
probably damaging |
Het |
| Slc14a1 |
T |
C |
18: 78,159,727 (GRCm39) |
I55M |
probably benign |
Het |
| Slc22a12 |
T |
A |
19: 6,588,469 (GRCm39) |
T350S |
probably benign |
Het |
| Srrt |
CACCTTCTCCCCAGAACCCCACACCTTACCTG |
C |
5: 137,300,760 (GRCm39) |
|
probably benign |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Stk38l |
T |
C |
6: 146,674,881 (GRCm39) |
F382S |
probably damaging |
Het |
| Swt1 |
G |
T |
1: 151,260,248 (GRCm39) |
T717K |
probably benign |
Het |
| Tmem230 |
A |
G |
2: 132,085,985 (GRCm39) |
L59P |
probably benign |
Het |
| Vmn2r98 |
A |
T |
17: 19,273,912 (GRCm39) |
Y53F |
probably benign |
Het |
| Zscan12 |
C |
T |
13: 21,553,022 (GRCm39) |
S282L |
probably benign |
Het |
|
| Other mutations in Poglut1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Poglut1
|
APN |
16 |
38,363,278 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0646:Poglut1
|
UTSW |
16 |
38,349,837 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0799:Poglut1
|
UTSW |
16 |
38,355,083 (GRCm39) |
splice site |
probably null |
|
|
R2025:Poglut1
|
UTSW |
16 |
38,358,267 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2054:Poglut1
|
UTSW |
16 |
38,355,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4514:Poglut1
|
UTSW |
16 |
38,369,778 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4770:Poglut1
|
UTSW |
16 |
38,355,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5649:Poglut1
|
UTSW |
16 |
38,352,173 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5893:Poglut1
|
UTSW |
16 |
38,349,957 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6796:Poglut1
|
UTSW |
16 |
38,349,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7404:Poglut1
|
UTSW |
16 |
38,358,284 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9227:Poglut1
|
UTSW |
16 |
38,355,168 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9368:Poglut1
|
UTSW |
16 |
38,349,850 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9378:Poglut1
|
UTSW |
16 |
38,347,133 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9408:Poglut1
|
UTSW |
16 |
38,347,137 (GRCm39) |
missense |
probably benign |
|
|
R9575:Poglut1
|
UTSW |
16 |
38,363,285 (GRCm39) |
missense |
probably benign |
0.40 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGGGAGACAGCGATTTAC -3'
(R):5'- CAAGATGCTGCACTACCCAG -3'
Sequencing Primer
(F):5'- CTGGGAGACAGCGATTTACACATAC -3'
(R):5'- CGGTGGAACTATCCCATCTGTG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation