Incidental Mutation 'R3692:Fut10'
ID |
268823 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fut10
|
Ensembl Gene |
ENSMUSG00000046152 |
Gene Name |
fucosyltransferase 10 |
Synonyms |
|
MMRRC Submission |
040687-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R3692 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
31677359-31751766 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 31726048 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 268
(Y268N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124437
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066173]
[ENSMUST00000110527]
[ENSMUST00000161502]
[ENSMUST00000161788]
|
AlphaFold |
Q5F2L2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066173
AA Change: Y268N
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000069816 Gene: ENSMUSG00000046152 AA Change: Y268N
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 |
possibly damaging
Transcript: ENSMUST00000161502
AA Change: Y268N
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000125265 Gene: ENSMUSG00000046152 AA Change: Y268N
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_10
|
7 |
412 |
4.1e-92 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161788
AA Change: Y268N
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124437 Gene: ENSMUSG00000046152 AA Change: Y268N
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_10
|
7 |
411 |
1.3e-92 |
PFAM |
low complexity region
|
418 |
429 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162162
|
Meta Mutation Damage Score |
0.2209 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
98% (42/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1a |
T |
C |
5: 121,657,385 (GRCm39) |
D636G |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,672,719 (GRCm39) |
V2218A |
possibly damaging |
Het |
Ano5 |
T |
A |
7: 51,240,327 (GRCm39) |
Y752N |
probably damaging |
Het |
Bltp2 |
A |
G |
11: 78,160,335 (GRCm39) |
D598G |
probably damaging |
Het |
Calca |
T |
C |
7: 114,233,796 (GRCm39) |
E45G |
probably damaging |
Het |
Cdk8 |
C |
T |
5: 146,220,478 (GRCm39) |
R166* |
probably null |
Het |
Chsy1 |
T |
A |
7: 65,821,001 (GRCm39) |
M412K |
probably damaging |
Het |
Cic |
T |
A |
7: 24,988,338 (GRCm39) |
Y1675* |
probably null |
Het |
Col1a2 |
T |
A |
6: 4,510,710 (GRCm39) |
D53E |
possibly damaging |
Het |
Dennd6b |
A |
G |
15: 89,071,030 (GRCm39) |
|
probably benign |
Het |
Glrx3 |
T |
C |
7: 137,060,846 (GRCm39) |
|
probably benign |
Het |
Gucy1b2 |
T |
A |
14: 62,642,076 (GRCm39) |
N697I |
probably damaging |
Het |
Ifi208 |
T |
C |
1: 173,510,438 (GRCm39) |
S198P |
possibly damaging |
Het |
Krt34 |
A |
G |
11: 99,929,857 (GRCm39) |
V213A |
probably damaging |
Het |
Lats2 |
T |
C |
14: 57,928,998 (GRCm39) |
N959S |
probably damaging |
Het |
Mat1a |
A |
G |
14: 40,843,338 (GRCm39) |
Y288C |
probably damaging |
Het |
Mtif2 |
A |
T |
11: 29,490,718 (GRCm39) |
H474L |
probably benign |
Het |
Myh8 |
A |
G |
11: 67,192,744 (GRCm39) |
I1512V |
probably damaging |
Het |
Nkx2-6 |
T |
C |
14: 69,409,476 (GRCm39) |
S76P |
probably benign |
Het |
Noxred1 |
G |
A |
12: 87,280,240 (GRCm39) |
R31W |
probably benign |
Het |
Or14c46 |
T |
A |
7: 85,918,703 (GRCm39) |
Q98L |
probably damaging |
Het |
Or4a69 |
T |
A |
2: 89,313,240 (GRCm39) |
M80L |
probably benign |
Het |
Pcdhb16 |
C |
A |
18: 37,611,340 (GRCm39) |
T100K |
probably benign |
Het |
Pcdhga10 |
T |
C |
18: 37,881,384 (GRCm39) |
C382R |
probably damaging |
Het |
Pdgfra |
A |
T |
5: 75,349,948 (GRCm39) |
Y944F |
possibly damaging |
Het |
Pkhd1 |
A |
G |
1: 20,625,353 (GRCm39) |
I741T |
possibly damaging |
Het |
Ppp1r10 |
A |
G |
17: 36,241,760 (GRCm39) |
D845G |
unknown |
Het |
Rfk |
C |
A |
19: 17,376,834 (GRCm39) |
|
probably null |
Het |
Rgs11 |
C |
T |
17: 26,423,302 (GRCm39) |
|
probably benign |
Het |
Spata31d1b |
T |
C |
13: 59,865,705 (GRCm39) |
V951A |
probably benign |
Het |
St3gal5 |
T |
C |
6: 72,126,013 (GRCm39) |
V286A |
probably benign |
Het |
St7l |
T |
C |
3: 104,798,870 (GRCm39) |
M320T |
probably benign |
Het |
Tnfrsf1b |
G |
T |
4: 144,954,092 (GRCm39) |
Q86K |
probably benign |
Het |
Tox |
T |
C |
4: 6,697,535 (GRCm39) |
I423V |
probably benign |
Het |
Tpbpa |
T |
A |
13: 61,087,827 (GRCm39) |
H88L |
probably benign |
Het |
Vmn1r236 |
A |
G |
17: 21,507,068 (GRCm39) |
Y62C |
probably benign |
Het |
Ythdc1 |
A |
G |
5: 86,970,526 (GRCm39) |
I399M |
probably damaging |
Het |
Zfp948 |
T |
G |
17: 21,807,838 (GRCm39) |
D343E |
probably benign |
Het |
Zswim6 |
A |
G |
13: 107,863,076 (GRCm39) |
|
noncoding transcript |
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 |
IGL03345:Fut10
|
APN |
8 |
31,750,069 (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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACGTCCTGAAGTCACTCAGATACC -3'
(R):5'- CAGAATGGCGCTTCGGTTAC -3'
Sequencing Primer
(F):5'- TGAAGTCACTCAGATACCTAGTTCC -3'
(R):5'- CGGTTACTTGGAAGCCAGTC -3'
|
Posted On |
2015-02-19 |