Incidental Mutation 'R7309:Slc35e1'
ID |
567447 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc35e1
|
Ensembl Gene |
ENSMUSG00000019731 |
Gene Name |
solute carrier family 35, member E1 |
Synonyms |
|
MMRRC Submission |
045408-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
R7309 (G1)
|
Quality Score |
113.008 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
73234485-73246458 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 73246358 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 25
(R25G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115754
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058534]
[ENSMUST00000152080]
|
AlphaFold |
Q8CD26 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058534
|
SMART Domains |
Protein: ENSMUSP00000058697 Gene: ENSMUSG00000045248
Domain | Start | End | E-Value | Type |
TFS2N
|
12 |
86 |
6.67e-21 |
SMART |
low complexity region
|
93 |
108 |
N/A |
INTRINSIC |
Pfam:Med26_M
|
177 |
405 |
3e-80 |
PFAM |
Pfam:Med26_C
|
407 |
586 |
5.1e-91 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000152080
AA Change: R25G
|
SMART Domains |
Protein: ENSMUSP00000115754 Gene: ENSMUSG00000019731 AA Change: R25G
Domain | Start | End | E-Value | Type |
Pfam:TPT
|
28 |
333 |
8.3e-95 |
PFAM |
Pfam:EamA
|
188 |
334 |
7.1e-10 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
94% (47/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
C |
5: 109,884,819 (GRCm39) |
H346Q |
probably damaging |
Het |
4932414N04Rik |
A |
T |
2: 68,546,530 (GRCm39) |
I71L |
probably benign |
Het |
Anapc1 |
A |
G |
2: 128,516,604 (GRCm39) |
S377P |
probably damaging |
Het |
Cldnd2 |
A |
G |
7: 43,091,133 (GRCm39) |
T22A |
possibly damaging |
Het |
Comp |
A |
T |
8: 70,826,328 (GRCm39) |
|
probably null |
Het |
Cop1 |
A |
G |
1: 159,134,195 (GRCm39) |
K446E |
probably damaging |
Het |
Cox18 |
T |
C |
5: 90,362,917 (GRCm39) |
T314A |
possibly damaging |
Het |
Csrp3 |
A |
G |
7: 48,485,317 (GRCm39) |
V60A |
probably benign |
Het |
Dnah8 |
A |
T |
17: 31,093,988 (GRCm39) |
Y4694F |
probably damaging |
Het |
Dnm1l |
A |
G |
16: 16,139,510 (GRCm39) |
Y493H |
probably damaging |
Het |
Esf1 |
A |
T |
2: 139,967,011 (GRCm39) |
|
probably null |
Het |
Fam187a |
T |
A |
11: 102,776,832 (GRCm39) |
V212E |
probably damaging |
Het |
Fign |
A |
T |
2: 63,810,301 (GRCm39) |
M323K |
possibly damaging |
Het |
Foxf2 |
A |
G |
13: 31,810,496 (GRCm39) |
K145R |
probably damaging |
Het |
Fxyd5 |
T |
C |
7: 30,734,829 (GRCm39) |
N133D |
probably benign |
Het |
Hnrnpdl |
A |
T |
5: 100,185,482 (GRCm39) |
L240* |
probably null |
Het |
Kcna7 |
T |
G |
7: 45,058,679 (GRCm39) |
F322C |
probably damaging |
Het |
Kcnj9 |
A |
G |
1: 172,153,825 (GRCm39) |
C100R |
probably damaging |
Het |
Lrrc14b |
C |
A |
13: 74,511,321 (GRCm39) |
C253F |
probably benign |
Het |
Map3k11 |
T |
C |
19: 5,740,486 (GRCm39) |
V71A |
probably damaging |
Het |
Med13 |
C |
A |
11: 86,181,888 (GRCm39) |
M1315I |
probably benign |
Het |
Mettl24 |
T |
C |
10: 40,686,496 (GRCm39) |
V291A |
probably benign |
Het |
Miox |
G |
T |
15: 89,220,252 (GRCm39) |
C148F |
probably damaging |
Het |
Mpdz |
A |
T |
4: 81,300,195 (GRCm39) |
|
probably null |
Het |
Mthfsd |
G |
A |
8: 121,835,070 (GRCm39) |
|
probably benign |
Het |
Myh15 |
G |
A |
16: 48,916,828 (GRCm39) |
A383T |
probably benign |
Het |
Nlrc5 |
A |
G |
8: 95,200,670 (GRCm39) |
H117R |
probably benign |
Het |
Ntrk1 |
A |
T |
3: 87,702,384 (GRCm39) |
M23K |
probably benign |
Het |
Or14c45 |
T |
A |
7: 86,176,349 (GRCm39) |
L128H |
probably damaging |
Het |
Or4c3d |
T |
A |
2: 89,881,801 (GRCm39) |
N289I |
probably damaging |
Het |
Or8g21 |
T |
A |
9: 38,906,576 (GRCm39) |
S52C |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,374,893 (GRCm39) |
|
probably null |
Het |
Plcz1 |
A |
T |
6: 139,968,882 (GRCm39) |
D185E |
probably damaging |
Het |
Plekhg5 |
C |
A |
4: 152,196,985 (GRCm39) |
Q757K |
possibly damaging |
Het |
Prr23a2 |
T |
A |
9: 98,739,027 (GRCm39) |
D128E |
probably benign |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
Sgsm1 |
A |
T |
5: 113,416,712 (GRCm39) |
|
probably null |
Het |
Sh3bp5 |
C |
T |
14: 31,100,246 (GRCm39) |
V221M |
probably benign |
Het |
Slc25a27 |
A |
T |
17: 43,975,083 (GRCm39) |
D59E |
probably benign |
Het |
Slc4a4 |
T |
C |
5: 89,318,610 (GRCm39) |
V626A |
probably benign |
Het |
Slfn5 |
T |
C |
11: 82,847,529 (GRCm39) |
L138P |
probably damaging |
Het |
Stat1 |
A |
G |
1: 52,165,780 (GRCm39) |
|
probably null |
Het |
Tnks2 |
G |
T |
19: 36,829,936 (GRCm39) |
A206S |
probably damaging |
Het |
Trav7-1 |
C |
A |
14: 52,892,521 (GRCm39) |
Q25K |
probably benign |
Het |
Ttn |
A |
G |
2: 76,728,670 (GRCm39) |
M5470T |
unknown |
Het |
Vps35 |
A |
T |
8: 86,001,596 (GRCm39) |
D407E |
probably benign |
Het |
Wdr90 |
T |
C |
17: 26,079,676 (GRCm39) |
D190G |
probably benign |
Het |
Wdr93 |
T |
A |
7: 79,423,103 (GRCm39) |
F456I |
possibly damaging |
Het |
Wdr95 |
A |
G |
5: 149,529,758 (GRCm39) |
E675G |
probably benign |
Het |
|
Other mutations in Slc35e1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01325:Slc35e1
|
APN |
8 |
73,237,602 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL01399:Slc35e1
|
APN |
8 |
73,238,534 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02663:Slc35e1
|
APN |
8 |
73,242,053 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03349:Slc35e1
|
APN |
8 |
73,237,696 (GRCm39) |
missense |
probably damaging |
0.99 |
flattened
|
UTSW |
8 |
73,241,973 (GRCm39) |
missense |
probably damaging |
1.00 |
wizened
|
UTSW |
8 |
73,246,030 (GRCm39) |
missense |
|
|
R0009:Slc35e1
|
UTSW |
8 |
73,238,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R0009:Slc35e1
|
UTSW |
8 |
73,238,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R0054:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
R0105:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
R0401:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
R0510:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
R0511:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
R0529:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
R0566:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
R0968:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
R0969:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
R1029:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
R1051:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
R1123:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
R1245:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
R1247:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
R1314:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
R1343:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
R1357:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
R1401:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
R1430:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
R1715:Slc35e1
|
UTSW |
8 |
73,237,821 (GRCm39) |
missense |
probably benign |
0.05 |
R3031:Slc35e1
|
UTSW |
8 |
73,238,735 (GRCm39) |
missense |
probably benign |
0.03 |
R3769:Slc35e1
|
UTSW |
8 |
73,245,714 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4745:Slc35e1
|
UTSW |
8 |
73,246,166 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6884:Slc35e1
|
UTSW |
8 |
73,238,726 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7848:Slc35e1
|
UTSW |
8 |
73,246,280 (GRCm39) |
missense |
probably benign |
0.08 |
R7913:Slc35e1
|
UTSW |
8 |
73,238,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R8080:Slc35e1
|
UTSW |
8 |
73,246,030 (GRCm39) |
missense |
|
|
R8806:Slc35e1
|
UTSW |
8 |
73,241,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R8921:Slc35e1
|
UTSW |
8 |
73,241,988 (GRCm39) |
missense |
probably benign |
|
R8948:Slc35e1
|
UTSW |
8 |
73,246,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R9108:Slc35e1
|
UTSW |
8 |
73,246,030 (GRCm39) |
missense |
|
|
R9111:Slc35e1
|
UTSW |
8 |
73,246,030 (GRCm39) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- TACGTAACGCGGATAGAAGC -3'
(R):5'- CTCCCGGAAAGCGTTTAAGTGAG -3'
Sequencing Primer
(F):5'- CGGATAGAAGCGCGGCG -3'
(R):5'- TCGCCGACGACGTGTAC -3'
|
Posted On |
2019-06-26 |