Incidental Mutation 'IGL03345:Fut10'
ID |
417425 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fut10
|
Ensembl Gene |
ENSMUSG00000046152 |
Gene Name |
fucosyltransferase 10 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
IGL03345
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
31677359-31751766 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 31750069 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 452
(S452P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125265
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066173]
[ENSMUST00000110527]
[ENSMUST00000161502]
|
AlphaFold |
Q5F2L2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066173
AA Change: S452P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000069816 Gene: ENSMUSG00000046152 AA Change: S452P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
Pfam:Glyco_tran_10_N
|
79 |
184 |
5e-13 |
PFAM |
Pfam:Glyco_transf_10
|
209 |
410 |
7.9e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110527
|
SMART Domains |
Protein: ENSMUSP00000106156 Gene: ENSMUSG00000046152
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_10
|
7 |
134 |
3e-9 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161502
AA Change: S452P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000125265 Gene: ENSMUSG00000046152 AA Change: S452P
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_10
|
7 |
412 |
4.1e-92 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
A |
G |
11: 94,250,163 (GRCm39) |
W987R |
probably damaging |
Het |
Adcy5 |
T |
C |
16: 35,069,184 (GRCm39) |
V384A |
probably benign |
Het |
Akap12 |
T |
C |
10: 4,306,697 (GRCm39) |
V1169A |
probably benign |
Het |
Atp8a2 |
T |
C |
14: 60,011,460 (GRCm39) |
T950A |
probably benign |
Het |
Avil |
T |
C |
10: 126,844,826 (GRCm39) |
|
probably benign |
Het |
Bccip |
A |
G |
7: 133,311,220 (GRCm39) |
D45G |
probably benign |
Het |
Bcl9 |
A |
G |
3: 97,116,508 (GRCm39) |
S729P |
probably benign |
Het |
C3 |
T |
A |
17: 57,526,585 (GRCm39) |
I799F |
probably damaging |
Het |
Cstf2 |
C |
T |
X: 132,961,794 (GRCm39) |
R80C |
probably damaging |
Het |
Degs1l |
A |
T |
1: 180,882,937 (GRCm39) |
H233L |
probably benign |
Het |
Dock7 |
A |
G |
4: 98,873,056 (GRCm39) |
F1130S |
possibly damaging |
Het |
Elapor1 |
A |
G |
3: 108,399,332 (GRCm39) |
V86A |
possibly damaging |
Het |
Fat2 |
C |
T |
11: 55,173,187 (GRCm39) |
D2509N |
probably damaging |
Het |
Gabrb1 |
T |
A |
5: 72,293,908 (GRCm39) |
M394K |
possibly damaging |
Het |
Gkn3 |
T |
A |
6: 87,365,798 (GRCm39) |
E7V |
probably null |
Het |
Gpld1 |
G |
A |
13: 25,171,007 (GRCm39) |
G803R |
probably damaging |
Het |
Hipk2 |
A |
G |
6: 38,724,937 (GRCm39) |
|
probably benign |
Het |
Kcnu1 |
A |
T |
8: 26,371,321 (GRCm39) |
|
probably benign |
Het |
Kidins220 |
A |
T |
12: 25,053,044 (GRCm39) |
S445C |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,373,154 (GRCm39) |
K266E |
probably damaging |
Het |
Myh4 |
A |
T |
11: 67,146,304 (GRCm39) |
D1454V |
probably damaging |
Het |
Nrf1 |
A |
C |
6: 30,089,947 (GRCm39) |
T9P |
probably damaging |
Het |
Nt5dc1 |
T |
C |
10: 34,200,458 (GRCm39) |
E187G |
probably benign |
Het |
Obscn |
T |
A |
11: 58,886,308 (GRCm39) |
|
probably benign |
Het |
Pkd2l2 |
T |
C |
18: 34,558,142 (GRCm39) |
Y274H |
probably damaging |
Het |
Rgs8 |
A |
G |
1: 153,568,556 (GRCm39) |
K149R |
probably benign |
Het |
Rinl |
A |
G |
7: 28,496,222 (GRCm39) |
E401G |
possibly damaging |
Het |
Rsbn1 |
A |
G |
3: 103,822,466 (GRCm39) |
R234G |
possibly damaging |
Het |
Slc6a3 |
A |
G |
13: 73,719,633 (GRCm39) |
D554G |
probably benign |
Het |
Slc7a2 |
A |
G |
8: 41,369,530 (GRCm39) |
S646G |
probably benign |
Het |
Syt5 |
A |
G |
7: 4,545,206 (GRCm39) |
V231A |
probably benign |
Het |
Timeless |
T |
G |
10: 128,083,455 (GRCm39) |
S695A |
probably benign |
Het |
Tmem131l |
G |
A |
3: 83,868,896 (GRCm39) |
P160S |
probably damaging |
Het |
Tspear |
C |
A |
10: 77,710,716 (GRCm39) |
|
probably null |
Het |
Ubn1 |
T |
A |
16: 4,899,828 (GRCm39) |
H1113Q |
probably damaging |
Het |
Vmn2r49 |
T |
G |
7: 9,718,621 (GRCm39) |
K481T |
probably damaging |
Het |
Xdh |
T |
C |
17: 74,213,027 (GRCm39) |
N872S |
probably damaging |
Het |
|
Other mutations in Fut10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00336:Fut10
|
APN |
8 |
31,685,319 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00566:Fut10
|
APN |
8 |
31,725,712 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00858:Fut10
|
APN |
8 |
31,725,733 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL00861:Fut10
|
APN |
8 |
31,725,733 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL00862:Fut10
|
APN |
8 |
31,725,733 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01916:Fut10
|
APN |
8 |
31,725,734 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02030:Fut10
|
APN |
8 |
31,726,006 (GRCm39) |
nonsense |
probably null |
|
IGL02318:Fut10
|
APN |
8 |
31,726,286 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02354:Fut10
|
APN |
8 |
31,691,398 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02361:Fut10
|
APN |
8 |
31,691,398 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02932:Fut10
|
APN |
8 |
31,749,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R0234:Fut10
|
UTSW |
8 |
31,726,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R0234:Fut10
|
UTSW |
8 |
31,726,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R1728:Fut10
|
UTSW |
8 |
31,691,418 (GRCm39) |
missense |
probably benign |
0.00 |
R1729:Fut10
|
UTSW |
8 |
31,691,418 (GRCm39) |
missense |
probably benign |
0.00 |
R1845:Fut10
|
UTSW |
8 |
31,726,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R2173:Fut10
|
UTSW |
8 |
31,726,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R2518:Fut10
|
UTSW |
8 |
31,726,495 (GRCm39) |
missense |
probably benign |
0.19 |
R3692:Fut10
|
UTSW |
8 |
31,726,048 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4449:Fut10
|
UTSW |
8 |
31,726,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R5015:Fut10
|
UTSW |
8 |
31,726,148 (GRCm39) |
missense |
probably damaging |
0.96 |
R5942:Fut10
|
UTSW |
8 |
31,691,485 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6497:Fut10
|
UTSW |
8 |
31,726,278 (GRCm39) |
missense |
probably damaging |
0.99 |
R7566:Fut10
|
UTSW |
8 |
31,749,950 (GRCm39) |
missense |
probably benign |
0.00 |
R7645:Fut10
|
UTSW |
8 |
31,726,232 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8127:Fut10
|
UTSW |
8 |
31,684,999 (GRCm39) |
start gained |
probably benign |
|
R8241:Fut10
|
UTSW |
8 |
31,750,034 (GRCm39) |
nonsense |
probably null |
|
R8899:Fut10
|
UTSW |
8 |
31,726,514 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9314:Fut10
|
UTSW |
8 |
31,691,504 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2016-08-02 |