Incidental Mutation 'R5799:Slc35e2'
ID |
447391 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc35e2
|
Ensembl Gene |
ENSMUSG00000042202 |
Gene Name |
solute carrier family 35, member E2 |
Synonyms |
A530082C11Rik |
MMRRC Submission |
043388-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5799 (G1)
|
Quality Score |
222 |
Status
|
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: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
89% (51/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA986860 |
C |
T |
1: 130,668,908 (GRCm39) |
Q92* |
probably null |
Het |
Accsl |
T |
C |
2: 93,694,748 (GRCm39) |
|
probably null |
Het |
Ahnak2 |
T |
C |
12: 112,745,365 (GRCm39) |
|
probably benign |
Het |
Alcam |
T |
C |
16: 52,130,212 (GRCm39) |
D46G |
probably benign |
Het |
Asap2 |
T |
C |
12: 21,218,247 (GRCm39) |
S57P |
probably damaging |
Het |
Atg14 |
A |
T |
14: 47,784,752 (GRCm39) |
V314D |
possibly damaging |
Het |
C230029F24Rik |
C |
T |
1: 49,377,307 (GRCm39) |
|
noncoding transcript |
Het |
Calcr |
A |
T |
6: 3,707,592 (GRCm39) |
I236N |
probably benign |
Het |
Cass4 |
G |
A |
2: 172,258,107 (GRCm39) |
G35E |
probably damaging |
Het |
Chmp6 |
T |
C |
11: 119,807,517 (GRCm39) |
I120T |
probably benign |
Het |
Col13a1 |
A |
G |
10: 61,684,919 (GRCm39) |
|
probably benign |
Het |
Cstdc4 |
T |
A |
16: 36,004,631 (GRCm39) |
M1K |
probably null |
Het |
Ddhd2 |
T |
A |
8: 26,238,629 (GRCm39) |
L328F |
probably damaging |
Het |
Defa40 |
T |
A |
8: 21,740,359 (GRCm39) |
|
probably null |
Het |
Dnmt3l |
A |
G |
10: 77,887,860 (GRCm39) |
D123G |
possibly damaging |
Het |
Eea1 |
T |
A |
10: 95,838,810 (GRCm39) |
V287E |
possibly damaging |
Het |
Efcc1 |
A |
G |
6: 87,708,164 (GRCm39) |
N97S |
probably benign |
Het |
Exd1 |
A |
G |
2: 119,369,262 (GRCm39) |
S118P |
probably benign |
Het |
Ext2 |
G |
T |
2: 93,642,317 (GRCm39) |
T184K |
probably benign |
Het |
Fam186a |
G |
A |
15: 99,864,705 (GRCm39) |
Q42* |
probably null |
Het |
Gbp2 |
A |
T |
3: 142,337,843 (GRCm39) |
I320L |
probably benign |
Het |
Gramd2a |
G |
A |
9: 59,615,299 (GRCm39) |
G13R |
probably benign |
Het |
H2-Q5 |
T |
C |
17: 35,613,115 (GRCm39) |
M5T |
unknown |
Het |
Jak3 |
C |
T |
8: 72,131,344 (GRCm39) |
L70F |
probably damaging |
Het |
Lhpp |
G |
A |
7: 132,307,364 (GRCm39) |
V254M |
probably damaging |
Het |
Lig1 |
T |
A |
7: 13,030,184 (GRCm39) |
V387E |
possibly damaging |
Het |
Lipo3 |
T |
C |
19: 33,755,093 (GRCm39) |
|
probably benign |
Het |
Lrrc8b |
C |
T |
5: 105,629,208 (GRCm39) |
S518L |
probably benign |
Het |
Narf |
T |
C |
11: 121,135,480 (GRCm39) |
Y111H |
probably damaging |
Het |
Ncf4 |
A |
G |
15: 78,135,177 (GRCm39) |
K78R |
probably benign |
Het |
Nrap |
A |
T |
19: 56,330,601 (GRCm39) |
C1118* |
probably null |
Het |
Nubp2 |
A |
G |
17: 25,104,772 (GRCm39) |
V23A |
probably damaging |
Het |
Or4l1 |
A |
T |
14: 50,166,497 (GRCm39) |
F168Y |
probably damaging |
Het |
Or6c219 |
A |
T |
10: 129,781,780 (GRCm39) |
D50E |
possibly damaging |
Het |
Or8g55 |
T |
C |
9: 39,785,392 (GRCm39) |
S274P |
possibly damaging |
Het |
Pdzd7 |
G |
A |
19: 45,025,428 (GRCm39) |
P356S |
probably benign |
Het |
Rttn |
T |
C |
18: 89,056,070 (GRCm39) |
V984A |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,516,925 (GRCm39) |
S3334P |
probably damaging |
Het |
Senp7 |
G |
A |
16: 55,959,468 (GRCm39) |
|
probably null |
Het |
Slc25a3 |
A |
C |
10: 90,957,903 (GRCm39) |
Y50D |
probably benign |
Het |
Slc38a2 |
A |
T |
15: 96,592,970 (GRCm39) |
S163T |
probably benign |
Het |
Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
Stam2 |
A |
T |
2: 52,610,922 (GRCm39) |
C4* |
probably null |
Het |
Taf1a |
A |
G |
1: 183,177,272 (GRCm39) |
D50G |
possibly damaging |
Het |
Taf6l |
A |
T |
19: 8,759,995 (GRCm39) |
Y106N |
possibly damaging |
Het |
Taf7l2 |
T |
C |
10: 115,948,674 (GRCm39) |
E284G |
probably damaging |
Het |
Tbx20 |
G |
A |
9: 24,636,816 (GRCm39) |
Q424* |
probably null |
Het |
Tex10 |
A |
G |
4: 48,433,295 (GRCm39) |
V829A |
possibly damaging |
Het |
Tgfbr3 |
T |
C |
5: 107,257,474 (GRCm39) |
|
probably benign |
Het |
Tnfsf10 |
G |
T |
3: 27,389,742 (GRCm39) |
V268F |
probably damaging |
Het |
Trrap |
A |
G |
5: 144,767,755 (GRCm39) |
T2571A |
probably benign |
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 |
|
R5711:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
R5714: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'- GCCTCCACATATGTCTGCAC -3'
(R):5'- CGACTCAATGACAGTGGTCTC -3'
Sequencing Primer
(F):5'- CAGGTGTCAAATGCATCTTACACAGG -3'
(R):5'- ACTCAATGACAGTGGTCTCTGTGATG -3'
|
Posted On |
2016-12-15 |