Incidental Mutation 'R1051:Slc35e1'
| ID |
93963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc35e1
|
| Ensembl Gene |
ENSMUSG00000019731 |
| Gene Name |
solute carrier family 35, member E1 |
| Synonyms |
|
| MMRRC Submission |
039141-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R1051 (G1)
|
| Quality Score |
125 |
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
A |
G |
5: 121,764,143 (GRCm39) |
S929P |
probably damaging |
Het |
| Acot1 |
T |
C |
12: 84,056,378 (GRCm39) |
V32A |
probably damaging |
Het |
| Ank1 |
G |
A |
8: 23,583,956 (GRCm39) |
G353D |
probably damaging |
Het |
| Baiap2l1 |
T |
A |
5: 144,222,943 (GRCm39) |
H97L |
probably damaging |
Het |
| Casp8ap2 |
C |
A |
4: 32,640,790 (GRCm39) |
P615T |
probably benign |
Het |
| Chrng |
A |
T |
1: 87,136,785 (GRCm39) |
D218V |
possibly damaging |
Het |
| Col5a3 |
C |
A |
9: 20,686,531 (GRCm39) |
V1365L |
unknown |
Het |
| Ddx49 |
A |
G |
8: 70,747,335 (GRCm39) |
|
probably null |
Het |
| Dnaaf2 |
T |
C |
12: 69,244,569 (GRCm39) |
D164G |
probably damaging |
Het |
| Eefsec |
A |
T |
6: 88,274,829 (GRCm39) |
D378E |
probably benign |
Het |
| Farsb |
T |
C |
1: 78,420,287 (GRCm39) |
I535V |
possibly damaging |
Het |
| Fat1 |
T |
G |
8: 45,497,543 (GRCm39) |
S4343A |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,145,425 (GRCm39) |
Y2737C |
probably damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,306,821 (GRCm39) |
E10G |
probably damaging |
Het |
| Has1 |
T |
C |
17: 18,068,541 (GRCm39) |
D271G |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Il12rb2 |
A |
G |
6: 67,333,719 (GRCm39) |
F187L |
probably benign |
Het |
| Kdsr |
G |
A |
1: 106,675,310 (GRCm39) |
Q109* |
probably null |
Het |
| Klb |
G |
A |
5: 65,536,670 (GRCm39) |
A667T |
probably damaging |
Het |
| Krba1 |
C |
T |
6: 48,390,332 (GRCm39) |
R704C |
possibly damaging |
Het |
| Lenep |
A |
T |
3: 89,309,780 (GRCm39) |
I56N |
possibly damaging |
Het |
| Lipc |
T |
C |
9: 70,709,398 (GRCm39) |
I450V |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,186,984 (GRCm39) |
N1329S |
probably benign |
Het |
| Myo5c |
T |
A |
9: 75,198,165 (GRCm39) |
M1330K |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,808,466 (GRCm39) |
E1691G |
probably damaging |
Het |
| Ninl |
C |
G |
2: 150,812,046 (GRCm39) |
E240Q |
probably damaging |
Het |
| Nlgn1 |
T |
C |
3: 25,966,869 (GRCm39) |
S195G |
probably damaging |
Het |
| Nlrp4c |
A |
G |
7: 6,068,942 (GRCm39) |
E281G |
probably benign |
Het |
| Olfm2 |
T |
C |
9: 20,579,759 (GRCm39) |
T331A |
probably damaging |
Het |
| Or1o1 |
A |
T |
17: 37,717,341 (GRCm39) |
I301F |
possibly damaging |
Het |
| Or2d2 |
T |
A |
7: 106,728,123 (GRCm39) |
D159V |
possibly damaging |
Het |
| Or8b9 |
T |
C |
9: 37,766,657 (GRCm39) |
I181T |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,829,255 (GRCm39) |
|
probably null |
Het |
| Pramel4 |
A |
G |
4: 143,795,068 (GRCm39) |
E485G |
possibly damaging |
Het |
| Prss12 |
A |
G |
3: 123,279,174 (GRCm39) |
D417G |
probably null |
Het |
| Rhpn1 |
A |
T |
15: 75,584,241 (GRCm39) |
Y456F |
probably damaging |
Het |
| Rnpc3 |
C |
T |
3: 113,423,595 (GRCm39) |
E37K |
possibly damaging |
Het |
| Rp1l1 |
T |
G |
14: 64,269,984 (GRCm39) |
L1857V |
probably damaging |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sepsecs |
C |
T |
5: 52,822,698 (GRCm39) |
A18T |
probably damaging |
Het |
| Sgms1 |
T |
A |
19: 32,137,439 (GRCm39) |
L42F |
probably damaging |
Het |
| Sipa1l1 |
A |
T |
12: 82,496,119 (GRCm39) |
D1720V |
possibly damaging |
Het |
| Slc13a3 |
A |
T |
2: 165,250,740 (GRCm39) |
|
probably null |
Het |
| Slc25a40 |
A |
T |
5: 8,480,450 (GRCm39) |
M67L |
probably benign |
Het |
| Spesp1 |
T |
C |
9: 62,179,924 (GRCm39) |
D328G |
possibly damaging |
Het |
| Sspo |
T |
A |
6: 48,468,389 (GRCm39) |
C4363* |
probably null |
Het |
| Tbc1d8 |
C |
T |
1: 39,420,534 (GRCm39) |
W666* |
probably null |
Het |
| Tubgcp2 |
T |
C |
7: 139,578,809 (GRCm39) |
D721G |
probably benign |
Het |
| Vps54 |
CTTAAT |
CT |
11: 21,228,001 (GRCm39) |
|
probably null |
Het |
| Wsb1 |
T |
C |
11: 79,137,059 (GRCm39) |
S113G |
probably damaging |
Het |
| Zfp382 |
T |
C |
7: 29,833,435 (GRCm39) |
F362S |
probably damaging |
Het |
| Zfp553 |
G |
T |
7: 126,835,977 (GRCm39) |
G511* |
probably null |
Het |
| Zfp568 |
C |
T |
7: 29,721,954 (GRCm39) |
Q299* |
probably null |
Het |
| Zfp688 |
G |
A |
7: 127,018,397 (GRCm39) |
P243S |
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 |
|
|
R0969:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
|
R1029: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'- AGGGGAAATTGACACCTACCGCAC -3'
Sequencing Primer
(F):5'- GCGCTCAAAATCACCTTGTTG -3'
(R):5'- GCGTAGTCCAGAGGATTTACC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation