Incidental Mutation 'R3031:Slc35e1'
ID |
264725 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc35e1
|
Ensembl Gene |
ENSMUSG00000019731 |
Gene Name |
solute carrier family 35, member E1 |
Synonyms |
|
MMRRC Submission |
040547-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R3031 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
73234485-73246458 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 73238735 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 258
(W258R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115754
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000152080]
|
AlphaFold |
Q8CD26 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141352
|
SMART Domains |
Protein: ENSMUSP00000122215 Gene: ENSMUSG00000019731
Domain | Start | End | E-Value | Type |
Pfam:EamA
|
5 |
58 |
1.5e-6 |
PFAM |
Pfam:UAA
|
6 |
214 |
4e-8 |
PFAM |
Pfam:TPT
|
67 |
211 |
1.7e-38 |
PFAM |
Pfam:EamA
|
76 |
211 |
1.4e-6 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152080
AA Change: W258R
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000115754 Gene: ENSMUSG00000019731 AA Change: W258R
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
C |
A |
16: 20,193,863 (GRCm39) |
V753L |
probably damaging |
Het |
Ap3b1 |
T |
C |
13: 94,702,151 (GRCm39) |
L1068P |
unknown |
Het |
Cacna1h |
C |
A |
17: 25,652,108 (GRCm39) |
R12L |
probably damaging |
Het |
Cbln4 |
A |
G |
2: 171,884,100 (GRCm39) |
V40A |
probably damaging |
Het |
Ccdc170 |
T |
C |
10: 4,468,931 (GRCm39) |
S160P |
probably damaging |
Het |
Cdc37 |
T |
C |
9: 21,054,487 (GRCm39) |
E46G |
possibly damaging |
Het |
Cltc |
T |
C |
11: 86,621,158 (GRCm39) |
H287R |
probably damaging |
Het |
Dsg1a |
A |
T |
18: 20,473,549 (GRCm39) |
D874V |
probably damaging |
Het |
Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,329,848 (GRCm39) |
R4861G |
possibly damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Lipe |
T |
C |
7: 25,084,320 (GRCm39) |
E588G |
possibly damaging |
Het |
Mael |
T |
C |
1: 166,032,375 (GRCm39) |
D328G |
probably damaging |
Het |
Mboat7 |
A |
G |
7: 3,681,687 (GRCm39) |
V398A |
probably benign |
Het |
Slc9a8 |
A |
G |
2: 167,293,201 (GRCm39) |
D183G |
probably damaging |
Het |
Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
Sult3a1 |
G |
A |
10: 33,753,345 (GRCm39) |
D214N |
possibly damaging |
Het |
Traf3ip1 |
T |
C |
1: 91,447,822 (GRCm39) |
V433A |
probably damaging |
Het |
Ubxn7 |
T |
A |
16: 32,194,125 (GRCm39) |
D232E |
probably benign |
Het |
Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,831,052 (GRCm39) |
S1561P |
probably benign |
Het |
Wdr48 |
T |
C |
9: 119,753,176 (GRCm39) |
V593A |
probably benign |
Het |
Zfp58 |
A |
G |
13: 67,640,231 (GRCm39) |
F87L |
probably benign |
Het |
Zfp663 |
A |
T |
2: 165,195,616 (GRCm39) |
L201* |
probably null |
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 |
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 |
R7309:Slc35e1
|
UTSW |
8 |
73,246,358 (GRCm39) |
missense |
unknown |
|
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'- ACATTGGTGCTGGTCACTGG -3'
(R):5'- TCGGGAGATAGTACTCAGCCAC -3'
Sequencing Primer
(F):5'- CTGGTCACTGGGTTGCGC -3'
(R):5'- CTGAGGGTAAAAATGCCTGTTGCC -3'
|
Posted On |
2015-02-05 |