Incidental Mutation 'R4449:Fut10'
| ID |
328884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fut10
|
| Ensembl Gene |
ENSMUSG00000046152 |
| Gene Name |
fucosyltransferase 10 |
| Synonyms |
|
| MMRRC Submission |
041710-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R4449 (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 31726285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 347
(Y347N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066173]
[ENSMUST00000110527]
[ENSMUST00000161502]
[ENSMUST00000161788]
|
| AlphaFold |
Q5F2L2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066173
AA Change: Y347N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069816
Gene: ENSMUSG00000046152
AA Change: Y347N
| 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: Y347N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125265
Gene: ENSMUSG00000046152
AA Change: Y347N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_10
|
7 |
412 |
4.1e-92 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161788
AA Change: Y347N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124437
Gene: ENSMUSG00000046152
AA Change: Y347N
| 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 |
0.9494 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgap3 |
A |
T |
15: 83,218,759 (GRCm39) |
Y105N |
probably damaging |
Het |
| Arid3b |
T |
A |
9: 57,705,404 (GRCm39) |
K266* |
probably null |
Het |
| Bend3 |
A |
G |
10: 43,388,079 (GRCm39) |
E824G |
possibly damaging |
Het |
| Bpifb6 |
A |
G |
2: 153,748,688 (GRCm39) |
E228G |
possibly damaging |
Het |
| Cadm1 |
T |
A |
9: 47,725,286 (GRCm39) |
|
probably benign |
Het |
| Cadm1 |
C |
T |
9: 47,441,735 (GRCm39) |
A22V |
possibly damaging |
Het |
| Cntrob |
C |
A |
11: 69,196,375 (GRCm39) |
D687Y |
probably benign |
Het |
| Dap3 |
A |
T |
3: 88,857,185 (GRCm39) |
|
probably benign |
Het |
| Ddc |
T |
C |
11: 11,785,802 (GRCm39) |
D295G |
probably damaging |
Het |
| Galnt2 |
A |
G |
8: 125,022,116 (GRCm39) |
D14G |
probably benign |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Helz |
T |
C |
11: 107,494,989 (GRCm39) |
V321A |
probably benign |
Het |
| Hnrnpul1 |
T |
C |
7: 25,421,709 (GRCm39) |
|
probably benign |
Het |
| Hsdl2 |
T |
A |
4: 59,617,692 (GRCm39) |
I353K |
possibly damaging |
Het |
| Igkv3-2 |
G |
A |
6: 70,675,825 (GRCm39) |
A45T |
probably benign |
Het |
| Kcnh6 |
A |
G |
11: 105,909,762 (GRCm39) |
Y429C |
probably damaging |
Het |
| Luzp1 |
T |
A |
4: 136,268,174 (GRCm39) |
N132K |
probably damaging |
Het |
| Mlycd |
T |
A |
8: 120,137,144 (GRCm39) |
Y455N |
probably damaging |
Het |
| Myl7 |
C |
T |
11: 5,847,354 (GRCm39) |
D115N |
probably damaging |
Het |
| Or52s1 |
A |
T |
7: 102,861,687 (GRCm39) |
I196F |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 57,877,827 (GRCm39) |
T461A |
probably damaging |
Het |
| Pi4kb |
C |
T |
3: 94,892,046 (GRCm39) |
S254L |
probably benign |
Het |
| Pitpnc1 |
A |
G |
11: 107,107,535 (GRCm39) |
V257A |
probably benign |
Het |
| Prpf40b |
A |
G |
15: 99,212,544 (GRCm39) |
D596G |
probably damaging |
Het |
| Rngtt |
T |
C |
4: 33,330,865 (GRCm39) |
F156S |
probably damaging |
Het |
| Sema3c |
A |
G |
5: 17,781,844 (GRCm39) |
|
probably benign |
Het |
| Shisa6 |
T |
C |
11: 66,416,244 (GRCm39) |
T183A |
probably benign |
Het |
| Skint3 |
T |
A |
4: 112,127,206 (GRCm39) |
V287E |
possibly damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Slc17a3 |
A |
T |
13: 24,040,715 (GRCm39) |
S392C |
probably damaging |
Het |
| Snx14 |
T |
C |
9: 88,305,052 (GRCm39) |
I81V |
probably benign |
Het |
| Tdrd6 |
C |
T |
17: 43,940,626 (GRCm39) |
G141S |
probably benign |
Het |
| Trappc12 |
A |
T |
12: 28,797,234 (GRCm39) |
D99E |
probably benign |
Het |
| Trim34b |
T |
C |
7: 103,984,935 (GRCm39) |
C318R |
probably benign |
Het |
| Ttc39a |
T |
C |
4: 109,299,500 (GRCm39) |
I449T |
possibly damaging |
Het |
| Twsg1 |
A |
C |
17: 66,233,305 (GRCm39) |
V215G |
possibly damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Ubr1 |
A |
G |
2: 120,776,862 (GRCm39) |
V293A |
possibly damaging |
Het |
| Unk |
G |
A |
11: 115,944,460 (GRCm39) |
G404S |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,498,828 (GRCm39) |
|
probably null |
Het |
| Vps13b |
T |
C |
15: 35,876,939 (GRCm39) |
V2864A |
possibly damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,818,040 (GRCm39) |
R1492W |
probably damaging |
Het |
| Zcchc3 |
G |
C |
2: 152,256,642 (GRCm39) |
P19R |
probably benign |
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 |
|
R3692:Fut10
|
UTSW |
8 |
31,726,048 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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'- TGAGAATGCGGTCTGTGACG -3'
(R):5'- GCTAGGAATAGAGCCCTGTG -3'
Sequencing Primer
(F):5'- GCGGTCTGTGACGATTACATCAC -3'
(R):5'- ATGCCAGCCCCCAGATTTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation