Incidental Mutation 'R5711:Slc35e2'
ID |
452208 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc35e2
|
Ensembl Gene |
ENSMUSG00000042202 |
Gene Name |
solute carrier family 35, member E2 |
Synonyms |
A530082C11Rik |
MMRRC Submission |
043185-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5711 (G1)
|
Quality Score |
197 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
155685873-155707797 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 155694483 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 10
(P10L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113189
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043829]
[ENSMUST00000105608]
[ENSMUST00000115821]
[ENSMUST00000118607]
|
AlphaFold |
Q8C811 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043829
AA Change: P10L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000041449 Gene: ENSMUSG00000042202 AA Change: P10L
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
low complexity region
|
50 |
66 |
N/A |
INTRINSIC |
Pfam:TPT
|
73 |
368 |
7.9e-93 |
PFAM |
Pfam:UAA
|
74 |
371 |
1e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105608
AA Change: P10L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101233 Gene: ENSMUSG00000042202 AA Change: P10L
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
low complexity region
|
50 |
66 |
N/A |
INTRINSIC |
Pfam:UAA
|
75 |
375 |
6.9e-10 |
PFAM |
Pfam:EamA
|
84 |
215 |
5.8e-8 |
PFAM |
Pfam:TPT
|
224 |
369 |
3.8e-34 |
PFAM |
Pfam:EamA
|
237 |
369 |
3.4e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115821
|
SMART Domains |
Protein: ENSMUSP00000111488 Gene: ENSMUSG00000073682
Domain | Start | End | E-Value | Type |
SCOP:d1l9ha_
|
17 |
52 |
2e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118607
AA Change: P10L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113189 Gene: ENSMUSG00000042202 AA Change: P10L
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
low complexity region
|
50 |
66 |
N/A |
INTRINSIC |
Pfam:UAA
|
75 |
375 |
6.9e-10 |
PFAM |
Pfam:EamA
|
84 |
215 |
5.8e-8 |
PFAM |
Pfam:TPT
|
224 |
369 |
3.8e-34 |
PFAM |
Pfam:EamA
|
237 |
369 |
3.4e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137752
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151425
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak6 |
A |
T |
13: 100,790,722 (GRCm39) |
T18S |
probably damaging |
Het |
Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
Arhgap19 |
A |
G |
19: 41,773,227 (GRCm39) |
V275A |
possibly damaging |
Het |
Cebpz |
T |
A |
17: 79,242,040 (GRCm39) |
Q538L |
probably damaging |
Het |
Chgb |
A |
T |
2: 132,634,618 (GRCm39) |
I187F |
probably benign |
Het |
Cldn1 |
C |
A |
16: 26,190,167 (GRCm39) |
L70F |
probably damaging |
Het |
Crybg2 |
A |
T |
4: 133,809,938 (GRCm39) |
D1230V |
probably damaging |
Het |
Csmd1 |
C |
T |
8: 16,003,703 (GRCm39) |
C2617Y |
probably damaging |
Het |
D7Ertd443e |
T |
A |
7: 133,951,110 (GRCm39) |
N188Y |
probably benign |
Het |
Ddx51 |
A |
G |
5: 110,802,790 (GRCm39) |
I214M |
probably benign |
Het |
Dlg5 |
A |
G |
14: 24,200,716 (GRCm39) |
V1328A |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,326,216 (GRCm39) |
C3639Y |
probably damaging |
Het |
Dync1i2 |
C |
T |
2: 71,081,326 (GRCm39) |
T511I |
probably benign |
Het |
Fam220a |
A |
T |
5: 143,549,212 (GRCm39) |
E208V |
probably damaging |
Het |
Gm4846 |
T |
C |
1: 166,311,594 (GRCm39) |
S422G |
probably benign |
Het |
Grin2c |
C |
T |
11: 115,141,115 (GRCm39) |
R1001Q |
probably benign |
Het |
H2-T3 |
T |
C |
17: 36,498,301 (GRCm39) |
E248G |
probably damaging |
Het |
Idi2 |
T |
C |
13: 9,008,518 (GRCm39) |
V92A |
probably benign |
Het |
Iqcd |
C |
T |
5: 120,740,571 (GRCm39) |
Q301* |
probably null |
Het |
Klhl26 |
T |
C |
8: 70,904,974 (GRCm39) |
D278G |
probably damaging |
Het |
Mok |
G |
T |
12: 110,774,503 (GRCm39) |
T228K |
probably damaging |
Het |
Or1e22 |
A |
G |
11: 73,377,008 (GRCm39) |
I214T |
probably damaging |
Het |
Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
Pabpc1 |
T |
C |
15: 36,606,074 (GRCm39) |
I101V |
probably benign |
Het |
Ppargc1a |
G |
T |
5: 51,631,562 (GRCm39) |
Q356K |
probably damaging |
Het |
Ptprt |
T |
A |
2: 161,652,524 (GRCm39) |
D608V |
probably damaging |
Het |
Rxfp1 |
C |
T |
3: 79,586,054 (GRCm39) |
C96Y |
probably damaging |
Het |
Scn11a |
A |
C |
9: 119,618,990 (GRCm39) |
V784G |
probably damaging |
Het |
Septin4 |
T |
C |
11: 87,458,723 (GRCm39) |
S366P |
probably benign |
Het |
Slc12a8 |
A |
G |
16: 33,410,679 (GRCm39) |
Y226C |
probably damaging |
Het |
Slc25a33 |
A |
G |
4: 149,846,914 (GRCm39) |
V49A |
possibly damaging |
Het |
Slc25a45 |
T |
C |
19: 5,934,451 (GRCm39) |
S140P |
probably benign |
Het |
Spty2d1 |
G |
T |
7: 46,647,845 (GRCm39) |
N361K |
possibly damaging |
Het |
Stk4 |
G |
A |
2: 163,941,674 (GRCm39) |
A297T |
probably benign |
Het |
Thsd7b |
T |
A |
1: 129,688,139 (GRCm39) |
N683K |
probably damaging |
Het |
Tln2 |
T |
C |
9: 67,299,829 (GRCm39) |
E141G |
probably benign |
Het |
Tmem125 |
A |
T |
4: 118,399,216 (GRCm39) |
C72S |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,572,437 (GRCm39) |
T26152K |
probably damaging |
Het |
Uhrf1 |
G |
A |
17: 56,627,259 (GRCm39) |
G643D |
possibly damaging |
Het |
Vmn2r50 |
C |
T |
7: 9,774,299 (GRCm39) |
M532I |
possibly damaging |
Het |
|
Other mutations in Slc35e2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01919:Slc35e2
|
APN |
4 |
155,697,187 (GRCm39) |
missense |
probably benign |
|
IGL02244:Slc35e2
|
APN |
4 |
155,703,019 (GRCm39) |
missense |
probably damaging |
0.97 |
R1774:Slc35e2
|
UTSW |
4 |
155,694,621 (GRCm39) |
missense |
possibly damaging |
0.51 |
R1856:Slc35e2
|
UTSW |
4 |
155,696,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R4600:Slc35e2
|
UTSW |
4 |
155,702,106 (GRCm39) |
missense |
probably benign |
0.04 |
R4601:Slc35e2
|
UTSW |
4 |
155,702,106 (GRCm39) |
missense |
probably benign |
0.04 |
R4603:Slc35e2
|
UTSW |
4 |
155,702,106 (GRCm39) |
missense |
probably benign |
0.04 |
R4610:Slc35e2
|
UTSW |
4 |
155,702,106 (GRCm39) |
missense |
probably benign |
0.04 |
R4917:Slc35e2
|
UTSW |
4 |
155,700,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R4918:Slc35e2
|
UTSW |
4 |
155,700,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R5440:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
R5468:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
R5469:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
R5470:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
R5512:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
R5513:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
R5514:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
R5689:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
R5692:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
R5714:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
R5799:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
R5872:Slc35e2
|
UTSW |
4 |
155,697,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R5925:Slc35e2
|
UTSW |
4 |
155,696,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R5947:Slc35e2
|
UTSW |
4 |
155,696,171 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6044:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
R6063:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
R6065:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
R6066:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
R6188:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
R6243:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
R6273:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
R6484:Slc35e2
|
UTSW |
4 |
155,697,104 (GRCm39) |
missense |
probably damaging |
0.99 |
R6867:Slc35e2
|
UTSW |
4 |
155,703,157 (GRCm39) |
missense |
probably benign |
0.00 |
R7143:Slc35e2
|
UTSW |
4 |
155,703,051 (GRCm39) |
missense |
probably benign |
0.01 |
R7384:Slc35e2
|
UTSW |
4 |
155,695,089 (GRCm39) |
missense |
probably benign |
0.01 |
R8463:Slc35e2
|
UTSW |
4 |
155,694,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R8737:Slc35e2
|
UTSW |
4 |
155,695,042 (GRCm39) |
missense |
probably benign |
0.01 |
R8940:Slc35e2
|
UTSW |
4 |
155,694,542 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCCTCCACATATGTCTGC -3'
(R):5'- GACTCAATGACAGTGGTCTCTG -3'
Sequencing Primer
(F):5'- CAGGTGTCAAATGCATCTTACACAGG -3'
(R):5'- ACTCAATGACAGTGGTCTCTGTGATG -3'
|
Posted On |
2017-01-03 |