Incidental Mutation 'R6497:Fut10'
| ID |
523068 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fut10
|
| Ensembl Gene |
ENSMUSG00000046152 |
| Gene Name |
fucosyltransferase 10 |
| Synonyms |
|
| MMRRC Submission |
044629-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R6497 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
31677359-31751766 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31726278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 344
(D344E)
|
| 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: D344E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000069816
Gene: ENSMUSG00000046152
AA Change: D344E
| 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: D344E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125265
Gene: ENSMUSG00000046152
AA Change: D344E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_10
|
7 |
412 |
4.1e-92 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161788
AA Change: D344E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124437
Gene: ENSMUSG00000046152
AA Change: D344E
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
A |
19: 43,793,544 (GRCm39) |
Y399N |
probably damaging |
Het |
| Acsm3 |
G |
A |
7: 119,379,972 (GRCm39) |
|
probably null |
Het |
| Aldh16a1 |
T |
A |
7: 44,794,361 (GRCm39) |
S556C |
possibly damaging |
Het |
| Armc7 |
T |
C |
11: 115,367,077 (GRCm39) |
I74T |
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,298,719 (GRCm39) |
D80G |
probably damaging |
Het |
| Bicral |
A |
T |
17: 47,136,499 (GRCm39) |
I237K |
probably damaging |
Het |
| Caskin1 |
T |
C |
17: 24,723,522 (GRCm39) |
V770A |
probably benign |
Het |
| Cd209c |
T |
C |
8: 3,994,122 (GRCm39) |
K113E |
possibly damaging |
Het |
| Cdh20 |
G |
A |
1: 109,993,528 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
A |
T |
3: 144,465,020 (GRCm39) |
V71D |
possibly damaging |
Het |
| Cntnap5a |
T |
C |
1: 116,505,627 (GRCm39) |
L1228P |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,025,584 (GRCm39) |
N85D |
possibly damaging |
Het |
| Coch |
G |
A |
12: 51,649,504 (GRCm39) |
V272M |
probably benign |
Het |
| Col22a1 |
T |
C |
15: 71,762,425 (GRCm39) |
E78G |
possibly damaging |
Het |
| Cyp2c66 |
T |
A |
19: 39,151,821 (GRCm39) |
C179S |
probably damaging |
Het |
| Dsg3 |
A |
G |
18: 20,670,305 (GRCm39) |
I681V |
probably benign |
Het |
| Egflam |
A |
T |
15: 7,280,784 (GRCm39) |
|
probably null |
Het |
| Gad2 |
C |
T |
2: 22,558,269 (GRCm39) |
P329L |
probably damaging |
Het |
| Gm14393 |
T |
C |
2: 174,903,427 (GRCm39) |
E160G |
possibly damaging |
Het |
| Gprc6a |
T |
C |
10: 51,491,797 (GRCm39) |
I476V |
probably benign |
Het |
| Limk2 |
A |
G |
11: 3,310,492 (GRCm39) |
F71L |
probably benign |
Het |
| Neb |
A |
T |
2: 52,148,301 (GRCm39) |
N2648K |
possibly damaging |
Het |
| Or51f5 |
T |
A |
7: 102,424,657 (GRCm39) |
F309I |
probably benign |
Het |
| Or52d1 |
T |
C |
7: 103,756,422 (GRCm39) |
|
probably benign |
Het |
| Or8d1b |
G |
A |
9: 38,887,490 (GRCm39) |
V173I |
probably benign |
Het |
| Pcdhgb7 |
T |
A |
18: 37,886,906 (GRCm39) |
V692E |
probably damaging |
Het |
| Pclo |
A |
C |
5: 14,843,869 (GRCm39) |
K4802Q |
unknown |
Het |
| Primpol |
A |
T |
8: 47,039,376 (GRCm39) |
|
probably null |
Het |
| Prr14 |
C |
T |
7: 127,073,750 (GRCm39) |
R205C |
probably benign |
Het |
| Rbm12b1 |
T |
C |
4: 12,146,431 (GRCm39) |
I801T |
probably benign |
Het |
| Ror2 |
A |
T |
13: 53,285,955 (GRCm39) |
N86K |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sh2d4b |
A |
G |
14: 40,596,139 (GRCm39) |
V81A |
probably benign |
Het |
| Skint6 |
A |
G |
4: 113,093,595 (GRCm39) |
Y183H |
probably damaging |
Het |
| Snapc3 |
G |
T |
4: 83,371,363 (GRCm39) |
E388* |
probably null |
Het |
| Srrm4 |
A |
T |
5: 116,605,550 (GRCm39) |
S236T |
unknown |
Het |
| Srrt |
G |
T |
5: 137,295,768 (GRCm39) |
P193H |
probably damaging |
Het |
| Sspo |
A |
T |
6: 48,472,142 (GRCm39) |
T810S |
possibly damaging |
Het |
| Stk36 |
A |
G |
1: 74,642,391 (GRCm39) |
H6R |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,557,102 (GRCm39) |
T1181A |
probably damaging |
Het |
| Tmem184a |
A |
G |
5: 139,798,755 (GRCm39) |
F65L |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,333,841 (GRCm39) |
I1330M |
probably benign |
Het |
| Zfp827 |
T |
A |
8: 79,906,757 (GRCm39) |
M923K |
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 |
|
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 |
|
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 |
|
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'- ATGCTTTCTACAGAGTCATTGCC -3'
(R):5'- AGCCTACTGTTTGCCCACAC -3'
Sequencing Primer
(F):5'- GCGGTCTGTGACGATTACATCAC -3'
(R):5'- GTTTGCCCACACCCTGCG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation