Incidental Mutation 'IGL01680:Pofut2'
| ID |
103754 |
| 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 # |
IGL01680
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
77095052-77105409 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 77099127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 186
(R186W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020493]
[ENSMUST00000219376]
|
| AlphaFold |
Q8VHI3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020493
AA Change: R186W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020493
Gene: ENSMUSG00000020260
AA Change: R186W
| 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 |
unknown
Transcript: ENSMUST00000218064
AA Change: R55W
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218117
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218672
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219376
AA Change: R55W
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
T |
C |
17: 57,709,620 (GRCm39) |
W121R |
unknown |
Het |
| Adprh |
C |
T |
16: 38,270,578 (GRCm39) |
G76S |
possibly damaging |
Het |
| Arhgap31 |
T |
C |
16: 38,423,976 (GRCm39) |
T697A |
probably benign |
Het |
| Ces2f |
T |
C |
8: 105,680,705 (GRCm39) |
M489T |
probably benign |
Het |
| Clec5a |
A |
G |
6: 40,561,314 (GRCm39) |
Y44H |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,833,426 (GRCm39) |
H950R |
probably damaging |
Het |
| Dennd10 |
A |
G |
19: 60,805,972 (GRCm39) |
T86A |
possibly damaging |
Het |
| Dgkz |
G |
T |
2: 91,766,210 (GRCm39) |
P784T |
probably benign |
Het |
| Dok1 |
T |
C |
6: 83,008,293 (GRCm39) |
D463G |
possibly damaging |
Het |
| Eif4a2 |
C |
A |
16: 22,927,941 (GRCm39) |
Q94K |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,055,956 (GRCm39) |
L1710P |
probably damaging |
Het |
| Fign |
A |
G |
2: 63,808,988 (GRCm39) |
|
probably benign |
Het |
| Gbp10 |
T |
C |
5: 105,372,137 (GRCm39) |
|
probably null |
Het |
| Gga2 |
G |
T |
7: 121,597,299 (GRCm39) |
D363E |
probably benign |
Het |
| Glis2 |
T |
A |
16: 4,429,195 (GRCm39) |
F133I |
possibly damaging |
Het |
| Isg20 |
A |
G |
7: 78,566,333 (GRCm39) |
D94G |
probably damaging |
Het |
| Kif23 |
T |
C |
9: 61,839,096 (GRCm39) |
D319G |
probably benign |
Het |
| Lbr |
C |
A |
1: 181,663,759 (GRCm39) |
R87L |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,771,513 (GRCm39) |
T715A |
probably benign |
Het |
| Mapk14 |
T |
C |
17: 28,944,820 (GRCm39) |
|
probably null |
Het |
| Mpp4 |
A |
C |
1: 59,169,226 (GRCm39) |
C341W |
probably benign |
Het |
| Mroh9 |
C |
T |
1: 162,875,551 (GRCm39) |
|
probably null |
Het |
| Myo16 |
T |
C |
8: 10,322,630 (GRCm39) |
V20A |
probably damaging |
Het |
| Or12e8 |
T |
C |
2: 87,188,249 (GRCm39) |
S154P |
probably damaging |
Het |
| Or52p2 |
A |
T |
7: 102,237,436 (GRCm39) |
C171* |
probably null |
Het |
| Or7c19 |
A |
T |
8: 85,957,308 (GRCm39) |
L61F |
probably benign |
Het |
| Ppp1r1b |
T |
A |
11: 98,241,392 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
A |
G |
5: 53,218,218 (GRCm39) |
I166V |
probably damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,637,928 (GRCm39) |
T375A |
probably benign |
Het |
| Slitrk5 |
C |
A |
14: 111,916,432 (GRCm39) |
H19N |
probably benign |
Het |
| Sptb |
T |
A |
12: 76,677,456 (GRCm39) |
Q126L |
probably damaging |
Het |
| Stoml1 |
T |
C |
9: 58,163,996 (GRCm39) |
V105A |
probably damaging |
Het |
| Stt3b |
C |
A |
9: 115,075,329 (GRCm39) |
|
probably benign |
Het |
| Thbs4 |
T |
C |
13: 92,913,488 (GRCm39) |
E144G |
probably benign |
Het |
| Tns3 |
A |
G |
11: 8,498,937 (GRCm39) |
Y49H |
probably damaging |
Het |
| Vmn2r87 |
C |
T |
10: 130,315,586 (GRCm39) |
W160* |
probably null |
Het |
| Zfp647 |
T |
A |
15: 76,801,968 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pofut2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01892:Pofut2
|
APN |
10 |
77,101,717 (GRCm39) |
missense |
probably benign |
0.35 |
|
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 |
2014-01-21 |
Incidental Mutation