Incidental Mutation 'R6884:Slc35e1'
ID |
536845 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc35e1
|
Ensembl Gene |
ENSMUSG00000019731 |
Gene Name |
solute carrier family 35, member E1 |
Synonyms |
|
MMRRC Submission |
044979-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R6884 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
73234485-73246458 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 73238726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 261
(T261A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115754
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000152080]
|
AlphaFold |
Q8CD26 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152080
AA Change: T261A
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000115754 Gene: ENSMUSG00000019731 AA Change: T261A
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: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aamp |
A |
G |
1: 74,323,407 (GRCm39) |
|
probably benign |
Het |
Abca5 |
C |
T |
11: 110,220,043 (GRCm39) |
V8M |
probably damaging |
Het |
Ahnak2 |
A |
T |
12: 112,741,863 (GRCm39) |
D736E |
possibly damaging |
Het |
Brpf3 |
A |
G |
17: 29,050,324 (GRCm39) |
D1072G |
probably benign |
Het |
Cacna1i |
C |
T |
15: 80,259,010 (GRCm39) |
R1240C |
probably damaging |
Het |
Ccdc40 |
A |
T |
11: 119,133,565 (GRCm39) |
E568D |
possibly damaging |
Het |
Col12a1 |
C |
T |
9: 79,547,091 (GRCm39) |
G2247E |
possibly damaging |
Het |
Dapk3 |
T |
A |
10: 81,027,588 (GRCm39) |
|
probably null |
Het |
Dcaf13 |
T |
C |
15: 38,986,635 (GRCm39) |
W136R |
probably damaging |
Het |
Dip2a |
C |
A |
10: 76,108,366 (GRCm39) |
|
probably null |
Het |
Eif3c |
T |
C |
7: 126,156,051 (GRCm39) |
D473G |
probably benign |
Het |
Erich2 |
G |
A |
2: 70,339,505 (GRCm39) |
R20H |
possibly damaging |
Het |
Gcnt7 |
T |
C |
2: 172,296,125 (GRCm39) |
N233S |
probably damaging |
Het |
Gdpd4 |
G |
T |
7: 97,621,382 (GRCm39) |
L208F |
probably damaging |
Het |
Gm10269 |
T |
A |
18: 20,815,932 (GRCm39) |
Q30L |
possibly damaging |
Het |
Gm7298 |
A |
T |
6: 121,737,480 (GRCm39) |
I295F |
possibly damaging |
Het |
Htr7 |
A |
G |
19: 35,941,779 (GRCm39) |
|
probably null |
Het |
Ing1 |
A |
G |
8: 11,611,916 (GRCm39) |
Y118C |
probably damaging |
Het |
Krtap16-1 |
C |
T |
11: 99,877,284 (GRCm39) |
W40* |
probably null |
Het |
Krtap26-1 |
A |
T |
16: 88,444,467 (GRCm39) |
D51E |
probably damaging |
Het |
Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
Lrp1 |
T |
A |
10: 127,394,986 (GRCm39) |
Q2513L |
probably benign |
Het |
Morf4l1 |
A |
T |
9: 89,976,532 (GRCm39) |
N265K |
probably damaging |
Het |
Mpp2 |
T |
C |
11: 101,952,904 (GRCm39) |
D299G |
probably benign |
Het |
Mtcl1 |
C |
T |
17: 66,745,197 (GRCm39) |
G55R |
probably damaging |
Het |
Myb |
T |
A |
10: 21,028,431 (GRCm39) |
K144I |
probably damaging |
Het |
Myo18a |
T |
C |
11: 77,709,875 (GRCm39) |
I587T |
possibly damaging |
Het |
Nr2c2 |
A |
G |
6: 92,135,374 (GRCm39) |
S288G |
probably benign |
Het |
Obscn |
A |
G |
11: 58,969,128 (GRCm39) |
Y2700H |
probably damaging |
Het |
Or2z9 |
T |
C |
8: 72,854,345 (GRCm39) |
V247A |
probably benign |
Het |
Or6c3 |
T |
A |
10: 129,309,023 (GRCm39) |
F154Y |
probably damaging |
Het |
Pde6b |
A |
G |
5: 108,536,574 (GRCm39) |
D90G |
probably damaging |
Het |
Pigo |
A |
G |
4: 43,022,627 (GRCm39) |
F315L |
possibly damaging |
Het |
Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
Ret |
T |
C |
6: 118,132,362 (GRCm39) |
D1026G |
probably damaging |
Het |
Rptn |
A |
T |
3: 93,303,096 (GRCm39) |
Q143L |
probably benign |
Het |
Rubcnl |
A |
G |
14: 75,272,910 (GRCm39) |
E210G |
probably benign |
Het |
Serpina1b |
T |
A |
12: 103,698,712 (GRCm39) |
T46S |
probably benign |
Het |
Serpinb9e |
A |
T |
13: 33,435,609 (GRCm39) |
H14L |
probably benign |
Het |
Shoc1 |
A |
G |
4: 59,059,652 (GRCm39) |
S1003P |
possibly damaging |
Het |
Slc25a25 |
A |
C |
2: 32,310,674 (GRCm39) |
V168G |
probably benign |
Het |
Spocd1 |
T |
C |
4: 129,849,197 (GRCm39) |
|
probably benign |
Het |
Tmem222 |
A |
T |
4: 132,995,514 (GRCm39) |
Y178N |
probably damaging |
Het |
Top1mt |
C |
T |
15: 75,535,893 (GRCm39) |
E470K |
probably benign |
Het |
Traj42 |
T |
C |
14: 54,413,290 (GRCm39) |
|
probably benign |
Het |
Tshr |
T |
C |
12: 91,504,876 (GRCm39) |
Y13H |
probably damaging |
Het |
Uvssa |
A |
G |
5: 33,566,461 (GRCm39) |
|
probably null |
Het |
Vmn1r28 |
G |
A |
6: 58,242,633 (GRCm39) |
V159I |
probably benign |
Het |
Vmn2r73 |
T |
A |
7: 85,507,213 (GRCm39) |
T700S |
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 |
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'- GGTTAGAGGTCATGTGTATAAAGC -3'
Sequencing Primer
(F):5'- CTGGTCACTGGGTTGCGC -3'
(R):5'- CTGAGGGTAAAAATGCCTGTTGCC -3'
|
Posted On |
2018-10-18 |