Incidental Mutation 'R0969:Slc35e1'
| ID |
83985 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc35e1
|
| Ensembl Gene |
ENSMUSG00000019731 |
| Gene Name |
solute carrier family 35, member E1 |
| Synonyms |
|
| MMRRC Submission |
039098-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R0969 (G1)
|
| Quality Score |
92 |
|
Status
|
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: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
C |
T |
4: 106,617,277 (GRCm39) |
|
probably null |
Het |
| Afg1l |
T |
C |
10: 42,194,617 (GRCm39) |
T392A |
probably damaging |
Het |
| Ccdc66 |
A |
G |
14: 27,219,319 (GRCm39) |
S146P |
probably damaging |
Het |
| Ccl20 |
T |
A |
1: 83,095,638 (GRCm39) |
|
probably benign |
Het |
| Cd2 |
T |
A |
3: 101,183,371 (GRCm39) |
I313F |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,816,572 (GRCm39) |
D374E |
possibly damaging |
Het |
| Cep85l |
T |
C |
10: 53,157,592 (GRCm39) |
K602E |
probably benign |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dhx8 |
T |
C |
11: 101,630,526 (GRCm39) |
|
probably benign |
Het |
| Epha3 |
A |
T |
16: 63,386,999 (GRCm39) |
L878Q |
probably damaging |
Het |
| F2rl2 |
A |
T |
13: 95,837,461 (GRCm39) |
T169S |
probably damaging |
Het |
| Gpx3 |
T |
C |
11: 54,799,852 (GRCm39) |
|
probably benign |
Het |
| Ipo5 |
T |
A |
14: 121,181,937 (GRCm39) |
V1010D |
possibly damaging |
Het |
| Nipbl |
A |
T |
15: 8,321,712 (GRCm39) |
L2647Q |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or5d18 |
T |
C |
2: 87,864,592 (GRCm39) |
D297G |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,263,785 (GRCm39) |
E393G |
probably damaging |
Het |
| Pibf1 |
C |
A |
14: 99,433,822 (GRCm39) |
Q590K |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,886,898 (GRCm39) |
D367G |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,940,965 (GRCm39) |
Y1106H |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 13,060,116 (GRCm39) |
A202T |
probably damaging |
Het |
| Slco6c1 |
A |
C |
1: 97,047,685 (GRCm39) |
I206R |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Srek1 |
G |
A |
13: 103,889,011 (GRCm39) |
|
probably benign |
Het |
| St8sia6 |
T |
A |
2: 13,701,680 (GRCm39) |
R112S |
probably benign |
Het |
| Suclg1 |
T |
A |
6: 73,248,099 (GRCm39) |
H273Q |
probably benign |
Het |
| Taf2 |
T |
A |
15: 54,894,553 (GRCm39) |
|
probably null |
Het |
| Tctn1 |
A |
G |
5: 122,379,840 (GRCm39) |
V566A |
probably benign |
Het |
| Trpm4 |
A |
G |
7: 44,977,331 (GRCm39) |
|
probably benign |
Het |
| Trpv3 |
C |
T |
11: 73,169,764 (GRCm39) |
Q112* |
probably null |
Het |
| Ttll8 |
T |
C |
15: 88,818,138 (GRCm39) |
Y179C |
probably damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Upk1b |
A |
G |
16: 38,607,661 (GRCm39) |
|
probably benign |
Het |
| Zfp961 |
T |
G |
8: 72,722,139 (GRCm39) |
H217Q |
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 |
|
|
R0968: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 |
Incidental Mutation