Incidental Mutation 'R0968:Slc35e1'
ID |
83952 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc35e1
|
Ensembl Gene |
ENSMUSG00000019731 |
Gene Name |
solute carrier family 35, member E1 |
Synonyms |
|
MMRRC Submission |
039097-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R0968 (G1)
|
Quality Score |
130 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
73234485-73246458 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 73246415 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058697
(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 |
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 |
unknown
Transcript: ENSMUST00000152080
AA Change: T6A
|
SMART Domains |
Protein: ENSMUSP00000115754 Gene: ENSMUSG00000019731 AA Change: T6A
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 98.0%
- 20x: 96.7%
|
Validation Efficiency |
94% (34/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
G |
A |
3: 137,772,967 (GRCm39) |
V719M |
probably damaging |
Het |
Abca13 |
A |
G |
11: 9,248,016 (GRCm39) |
S2588G |
probably benign |
Het |
Acaca |
C |
T |
11: 84,129,859 (GRCm39) |
Q405* |
probably null |
Het |
Brms1l |
G |
A |
12: 55,912,798 (GRCm39) |
D264N |
possibly damaging |
Het |
Cabcoco1 |
T |
C |
10: 68,272,202 (GRCm39) |
M254V |
probably benign |
Het |
Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
Coro7 |
G |
C |
16: 4,487,919 (GRCm39) |
|
probably benign |
Het |
Cylc2 |
A |
G |
4: 51,216,706 (GRCm39) |
M1V |
probably null |
Het |
Cyp3a11 |
G |
A |
5: 145,799,324 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
C |
T |
5: 124,906,641 (GRCm39) |
T4224M |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,339,345 (GRCm39) |
E3054G |
possibly damaging |
Het |
Dnm3 |
A |
G |
1: 161,847,388 (GRCm39) |
|
probably benign |
Het |
Efcab5 |
G |
A |
11: 77,031,749 (GRCm39) |
R42W |
probably damaging |
Het |
Fgf12 |
T |
C |
16: 27,981,185 (GRCm39) |
N177S |
probably null |
Het |
Flt3 |
C |
T |
5: 147,278,037 (GRCm39) |
V846I |
possibly damaging |
Het |
Gm11569 |
A |
T |
11: 99,689,250 (GRCm39) |
|
probably benign |
Het |
Gm12695 |
A |
C |
4: 96,650,303 (GRCm39) |
V181G |
probably damaging |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Lars1 |
C |
A |
18: 42,351,648 (GRCm39) |
R852L |
probably benign |
Het |
Lca5 |
T |
C |
9: 83,305,222 (GRCm39) |
T195A |
probably benign |
Het |
Lrrc40 |
G |
A |
3: 157,742,426 (GRCm39) |
D14N |
probably damaging |
Het |
Map4k2 |
T |
C |
19: 6,395,487 (GRCm39) |
S327P |
probably damaging |
Het |
Mpp4 |
A |
G |
1: 59,169,249 (GRCm39) |
F397L |
probably damaging |
Het |
Mtus2 |
T |
C |
5: 148,014,994 (GRCm39) |
S596P |
probably benign |
Het |
Myo3a |
T |
A |
2: 22,448,301 (GRCm39) |
N25K |
probably damaging |
Het |
Nadsyn1 |
T |
C |
7: 143,359,770 (GRCm39) |
T401A |
probably benign |
Het |
Pde6a |
A |
T |
18: 61,386,809 (GRCm39) |
E395D |
probably damaging |
Het |
Plekhm2 |
A |
G |
4: 141,357,243 (GRCm39) |
V743A |
probably benign |
Het |
Pzp |
A |
T |
6: 128,502,108 (GRCm39) |
D80E |
probably benign |
Het |
Rp1 |
A |
T |
1: 4,415,575 (GRCm39) |
C1846S |
probably benign |
Het |
Shbg |
A |
G |
11: 69,508,014 (GRCm39) |
L117P |
probably damaging |
Het |
Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Supt20 |
A |
G |
3: 54,615,821 (GRCm39) |
|
probably benign |
Het |
Vcpip1 |
A |
T |
1: 9,816,604 (GRCm39) |
I593N |
probably 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 |
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 |
|
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 |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- ACGGGAAGGCGCTCAAAATCAC -3'
(R):5'- GGGAAATTGACACCTACCGCACAG -3'
Sequencing Primer
(F):5'- GCGCTCAAAATCACCTTGTTG -3'
(R):5'- GCGTAGTCCAGAGGATTTACC -3'
|
Posted On |
2013-11-08 |