Incidental Mutation 'IGL01892:Pofut2'
| ID |
179269 |
| 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 # |
IGL01892
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
77095052-77105409 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 77101717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 251
(D251E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020493]
[ENSMUST00000219376]
|
| AlphaFold |
Q8VHI3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020493
AA Change: D251E
PolyPhen 2
Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000020493
Gene: ENSMUSG00000020260
AA Change: D251E
| 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: ENSMUST00000217993
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000218064
AA Change: D120E
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218117
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cplane1 |
A |
T |
15: 8,271,749 (GRCm39) |
|
probably benign |
Het |
| Cyp2c68 |
T |
A |
19: 39,722,788 (GRCm39) |
E253D |
probably benign |
Het |
| Gbp2b |
A |
G |
3: 142,309,381 (GRCm39) |
D164G |
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Lct |
G |
T |
1: 128,235,342 (GRCm39) |
T555N |
probably damaging |
Het |
| Ncam2 |
T |
A |
16: 81,386,587 (GRCm39) |
H655Q |
possibly damaging |
Het |
| Or52a24 |
A |
T |
7: 103,381,687 (GRCm39) |
M185L |
possibly damaging |
Het |
| Or8b57 |
C |
A |
9: 40,004,114 (GRCm39) |
L45F |
probably damaging |
Het |
| Pglyrp4 |
A |
G |
3: 90,646,348 (GRCm39) |
N293S |
probably benign |
Het |
| Prdm2 |
T |
C |
4: 142,860,974 (GRCm39) |
E772G |
probably damaging |
Het |
| Prkd3 |
A |
T |
17: 79,279,930 (GRCm39) |
D254E |
probably benign |
Het |
| Prr36 |
G |
A |
8: 4,265,243 (GRCm39) |
P169L |
probably damaging |
Het |
| Pwp2 |
T |
C |
10: 78,014,841 (GRCm39) |
Y381C |
probably damaging |
Het |
| Rasgrp1 |
G |
A |
2: 117,124,323 (GRCm39) |
T293M |
probably damaging |
Het |
| Snd1 |
G |
A |
6: 28,888,123 (GRCm39) |
|
probably null |
Het |
| Suclg2 |
A |
T |
6: 95,556,169 (GRCm39) |
D237E |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,729,431 (GRCm39) |
N1509S |
probably benign |
Het |
| Thbd |
A |
T |
2: 148,248,988 (GRCm39) |
H293Q |
possibly damaging |
Het |
| Tie1 |
T |
A |
4: 118,333,115 (GRCm39) |
Y871F |
probably benign |
Het |
| Vmn1r38 |
A |
T |
6: 66,753,360 (GRCm39) |
V252D |
probably benign |
Het |
| Vmn1r60 |
C |
A |
7: 5,547,309 (GRCm39) |
V264F |
probably benign |
Het |
| Vmn1r68 |
T |
C |
7: 10,261,334 (GRCm39) |
T255A |
possibly damaging |
Het |
| Vmn2r49 |
A |
T |
7: 9,718,690 (GRCm39) |
V458E |
probably benign |
Het |
| Vmn2r9 |
A |
T |
5: 108,995,700 (GRCm39) |
V316D |
probably damaging |
Het |
| Wfdc15b |
A |
T |
2: 164,057,388 (GRCm39) |
M1K |
probably null |
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 |
|
IGL01995:Pofut2
|
APN |
10 |
77,096,515 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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