Incidental Mutation 'IGL02663:Slc35e1'
| ID |
302635 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc35e1
|
| Ensembl Gene |
ENSMUSG00000019731 |
| Gene Name |
solute carrier family 35, member E1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
IGL02663
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
73234485-73246458 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73242053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 223
(L223P)
|
| 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 damaging
Transcript: ENSMUST00000152080
AA Change: L223P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115754
Gene: ENSMUSG00000019731
AA Change: L223P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPT
|
28 |
333 |
8.3e-95 |
PFAM |
|
Pfam:EamA
|
188 |
334 |
7.1e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181452
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212699
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl9 |
A |
C |
3: 97,112,648 (GRCm39) |
F1269C |
probably damaging |
Het |
| Cdc20b |
T |
A |
13: 113,192,665 (GRCm39) |
|
probably null |
Het |
| Chrna1 |
A |
G |
2: 73,404,660 (GRCm39) |
|
probably benign |
Het |
| Creb5 |
A |
G |
6: 53,657,946 (GRCm39) |
H236R |
probably damaging |
Het |
| Cyp17a1 |
A |
G |
19: 46,661,005 (GRCm39) |
F93S |
probably damaging |
Het |
| Cyp4a32 |
T |
A |
4: 115,467,787 (GRCm39) |
L257H |
probably damaging |
Het |
| Dnai3 |
A |
T |
3: 145,760,312 (GRCm39) |
M692K |
possibly damaging |
Het |
| Fahd1 |
C |
T |
17: 25,068,478 (GRCm39) |
G200R |
probably damaging |
Het |
| Ifit1 |
A |
G |
19: 34,618,380 (GRCm39) |
|
probably benign |
Het |
| Mfhas1 |
G |
T |
8: 36,057,060 (GRCm39) |
V512L |
probably damaging |
Het |
| Myh13 |
C |
T |
11: 67,245,753 (GRCm39) |
Q1095* |
probably null |
Het |
| Nfia |
A |
G |
4: 97,929,856 (GRCm39) |
T339A |
probably benign |
Het |
| Npas3 |
T |
C |
12: 54,115,691 (GRCm39) |
L840P |
probably damaging |
Het |
| Nsf |
T |
C |
11: 103,821,641 (GRCm39) |
T2A |
probably benign |
Het |
| Or11g7 |
A |
G |
14: 50,691,309 (GRCm39) |
T267A |
probably benign |
Het |
| Or14j10 |
A |
T |
17: 37,934,935 (GRCm39) |
I197K |
probably benign |
Het |
| Or5b111 |
A |
G |
19: 13,290,743 (GRCm39) |
V302A |
probably benign |
Het |
| P2rx2 |
C |
T |
5: 110,488,115 (GRCm39) |
E480K |
possibly damaging |
Het |
| P2rx2 |
G |
T |
5: 110,488,052 (GRCm39) |
|
probably null |
Het |
| Ppp1r8 |
G |
A |
4: 132,560,419 (GRCm39) |
T94I |
probably damaging |
Het |
| S100a11 |
A |
T |
3: 93,431,464 (GRCm39) |
E33D |
probably damaging |
Het |
| Sec31b |
C |
A |
19: 44,522,717 (GRCm39) |
A92S |
probably damaging |
Het |
| Serpina3g |
C |
T |
12: 104,205,399 (GRCm39) |
T46I |
possibly damaging |
Het |
| Sgo2b |
A |
T |
8: 64,396,148 (GRCm39) |
I36N |
probably damaging |
Het |
| St14 |
T |
C |
9: 31,011,678 (GRCm39) |
|
probably null |
Het |
| Sult2a8 |
A |
G |
7: 14,159,368 (GRCm39) |
Y84H |
possibly damaging |
Het |
| Tas1r2 |
T |
C |
4: 139,387,593 (GRCm39) |
Y322H |
probably benign |
Het |
| Tmem59 |
T |
C |
4: 107,054,738 (GRCm39) |
L181P |
probably damaging |
Het |
| Trp73 |
A |
G |
4: 154,146,963 (GRCm39) |
|
probably null |
Het |
| Ube2h |
A |
G |
6: 30,241,412 (GRCm39) |
V86A |
probably damaging |
Het |
| Vmn2r22 |
A |
T |
6: 123,626,117 (GRCm39) |
H106Q |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,339,802 (GRCm39) |
V681A |
possibly damaging |
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 |
|
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 |
|
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 |
|
|
|
| Posted On |
2015-04-16 |
Incidental Mutation