Incidental Mutation 'IGL01995:Pofut2'
| ID |
183650 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pofut2
|
| Ensembl Gene |
ENSMUSG00000020260 |
| Gene Name |
protein O-fucosyltransferase 2 |
| Synonyms |
2310011G23Rik, FUT13 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01995
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
77095052-77105409 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77096515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 80
(V80A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020493]
[ENSMUST00000219376]
|
| AlphaFold |
Q8VHI3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020493
AA Change: V80A
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020493
Gene: ENSMUSG00000020260
AA Change: V80A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:O-FucT
|
46 |
411 |
6.6e-88 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000105408
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217993
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218064
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218672
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219376
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fucose is typically found as a terminal modification of branched chain glycoconjugates, but it also exists in direct O-linkage to serine or threonine residues within cystine knot motifs in epidermal growth factor (EGF; MIM 131530)-like repeats or thrombospondin (THBS; see MIM 188060) type-1 repeats. POFUT2 is an O-fucosyltransferase that use THBS type-1 repeats as substrates (Luo et al., 2006 [PubMed 16464857]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutation of this gene results in lethality before weaning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
T |
C |
14: 44,401,302 (GRCm39) |
|
probably benign |
Het |
| AI661453 |
C |
A |
17: 47,779,442 (GRCm39) |
|
probably benign |
Het |
| Arhgap29 |
G |
A |
3: 121,807,977 (GRCm39) |
V1052I |
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,577,862 (GRCm39) |
S1029P |
probably benign |
Het |
| Arpc5l |
T |
C |
2: 38,898,226 (GRCm39) |
S7P |
probably damaging |
Het |
| Asf1b |
A |
G |
8: 84,682,533 (GRCm39) |
I26V |
probably benign |
Het |
| Cep95 |
T |
C |
11: 106,697,197 (GRCm39) |
L240P |
probably damaging |
Het |
| Cnmd |
A |
G |
14: 79,879,508 (GRCm39) |
|
probably benign |
Het |
| Cntn3 |
T |
A |
6: 102,180,846 (GRCm39) |
N783I |
probably damaging |
Het |
| Col6a2 |
C |
A |
10: 76,440,676 (GRCm39) |
|
probably benign |
Het |
| Col9a2 |
T |
C |
4: 120,907,607 (GRCm39) |
|
probably null |
Het |
| Cry2 |
T |
C |
2: 92,254,977 (GRCm39) |
E126G |
probably benign |
Het |
| Cxcl15 |
T |
C |
5: 90,942,467 (GRCm39) |
V13A |
possibly damaging |
Het |
| Dbr1 |
A |
G |
9: 99,465,952 (GRCm39) |
D510G |
probably benign |
Het |
| Dct |
A |
G |
14: 118,271,655 (GRCm39) |
F392L |
probably damaging |
Het |
| Dgkz |
A |
G |
2: 91,764,395 (GRCm39) |
|
probably benign |
Het |
| Dhrs7b |
A |
G |
11: 60,721,541 (GRCm39) |
I2V |
probably benign |
Het |
| Efnb3 |
A |
T |
11: 69,447,730 (GRCm39) |
|
probably null |
Het |
| Fbf1 |
T |
A |
11: 116,041,846 (GRCm39) |
R565S |
probably null |
Het |
| Gimap5 |
T |
C |
6: 48,729,727 (GRCm39) |
I99T |
probably damaging |
Het |
| Gm9912 |
A |
G |
3: 148,891,085 (GRCm39) |
L16P |
unknown |
Het |
| Gpr17 |
A |
G |
18: 32,080,187 (GRCm39) |
L292P |
probably damaging |
Het |
| Hdac10 |
C |
T |
15: 89,011,801 (GRCm39) |
V129M |
probably damaging |
Het |
| Mfap3l |
A |
G |
8: 61,124,498 (GRCm39) |
I247V |
possibly damaging |
Het |
| Mtus1 |
A |
T |
8: 41,537,457 (GRCm39) |
S86R |
probably damaging |
Het |
| Mylk3 |
A |
G |
8: 86,085,890 (GRCm39) |
S55P |
possibly damaging |
Het |
| Nol6 |
A |
T |
4: 41,118,567 (GRCm39) |
C745S |
probably damaging |
Het |
| Nudt13 |
A |
T |
14: 20,356,385 (GRCm39) |
E103D |
probably damaging |
Het |
| Or10ag59 |
A |
G |
2: 87,405,806 (GRCm39) |
Y126C |
probably damaging |
Het |
| Or1e35 |
A |
G |
11: 73,798,261 (GRCm39) |
I19T |
possibly damaging |
Het |
| Pdzk1 |
G |
T |
3: 96,764,687 (GRCm39) |
A324S |
probably benign |
Het |
| Rasip1 |
A |
G |
7: 45,286,240 (GRCm39) |
D821G |
probably damaging |
Het |
| Rnf10 |
T |
A |
5: 115,389,161 (GRCm39) |
K273* |
probably null |
Het |
| Slc4a9 |
A |
G |
18: 36,672,828 (GRCm39) |
M811V |
possibly damaging |
Het |
| Smchd1 |
T |
C |
17: 71,751,015 (GRCm39) |
D301G |
probably damaging |
Het |
| Tm9sf2 |
A |
T |
14: 122,380,883 (GRCm39) |
T159S |
probably benign |
Het |
| Tom1l1 |
G |
A |
11: 90,540,687 (GRCm39) |
P327S |
probably damaging |
Het |
| Trim3 |
A |
G |
7: 105,267,689 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
A |
C |
19: 18,807,691 (GRCm39) |
|
probably benign |
Het |
| Ttc13 |
A |
C |
8: 125,415,621 (GRCm39) |
L245R |
probably damaging |
Het |
| Txnrd1 |
T |
A |
10: 82,713,118 (GRCm39) |
V60E |
probably damaging |
Het |
| Ung |
T |
A |
5: 114,274,447 (GRCm39) |
D173E |
probably benign |
Het |
| Zbtb5 |
A |
G |
4: 44,995,294 (GRCm39) |
V30A |
probably damaging |
Het |
|
| Other mutations in Pofut2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01680:Pofut2
|
APN |
10 |
77,099,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01892:Pofut2
|
APN |
10 |
77,101,717 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL03123:Pofut2
|
APN |
10 |
77,102,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1436:Pofut2
|
UTSW |
10 |
77,104,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1928:Pofut2
|
UTSW |
10 |
77,096,642 (GRCm39) |
nonsense |
probably null |
|
|
R2046:Pofut2
|
UTSW |
10 |
77,096,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2184:Pofut2
|
UTSW |
10 |
77,103,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3806:Pofut2
|
UTSW |
10 |
77,096,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4153:Pofut2
|
UTSW |
10 |
77,104,500 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5122:Pofut2
|
UTSW |
10 |
77,104,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6189:Pofut2
|
UTSW |
10 |
77,104,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7072:Pofut2
|
UTSW |
10 |
77,095,263 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7143:Pofut2
|
UTSW |
10 |
77,095,260 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7423:Pofut2
|
UTSW |
10 |
77,098,273 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7747:Pofut2
|
UTSW |
10 |
77,098,304 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8389:Pofut2
|
UTSW |
10 |
77,101,785 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9345:Pofut2
|
UTSW |
10 |
77,103,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9484:Pofut2
|
UTSW |
10 |
77,095,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9601:Pofut2
|
UTSW |
10 |
77,095,220 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9612:Pofut2
|
UTSW |
10 |
77,101,763 (GRCm39) |
missense |
probably benign |
|
|
R9722:Pofut2
|
UTSW |
10 |
77,102,759 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0004:Pofut2
|
UTSW |
10 |
77,100,858 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Pofut2
|
UTSW |
10 |
77,099,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation