Incidental Mutation 'R6867:Slc35e2'
ID |
535968 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc35e2
|
Ensembl Gene |
ENSMUSG00000042202 |
Gene Name |
solute carrier family 35, member E2 |
Synonyms |
A530082C11Rik |
MMRRC Submission |
045028-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6867 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
155685873-155707797 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 155703157 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 390
(E390G)
|
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: E390G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000041449 Gene: ENSMUSG00000042202 AA Change: E390G
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: E390G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000101233 Gene: ENSMUSG00000042202 AA Change: E390G
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: E390G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000113189 Gene: ENSMUSG00000042202 AA Change: E390G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apold1 |
T |
C |
6: 134,961,019 (GRCm39) |
S158P |
possibly damaging |
Het |
Cep162 |
A |
T |
9: 87,099,134 (GRCm39) |
L788* |
probably null |
Het |
Cyp7b1 |
T |
C |
3: 18,151,394 (GRCm39) |
Y273C |
probably damaging |
Het |
Dlx1 |
C |
A |
2: 71,361,353 (GRCm39) |
N122K |
probably damaging |
Het |
Dock10 |
A |
T |
1: 80,508,976 (GRCm39) |
I1605K |
probably damaging |
Het |
Enox1 |
T |
C |
14: 77,936,739 (GRCm39) |
|
probably null |
Het |
F3 |
T |
C |
3: 121,523,020 (GRCm39) |
S77P |
possibly damaging |
Het |
Fam186a |
T |
A |
15: 99,843,731 (GRCm39) |
I838L |
unknown |
Het |
Flrt2 |
T |
C |
12: 95,746,156 (GRCm39) |
F165L |
probably damaging |
Het |
Gcgr |
T |
A |
11: 120,427,295 (GRCm39) |
V135E |
possibly damaging |
Het |
Gm6741 |
T |
C |
17: 91,544,339 (GRCm39) |
L34P |
probably benign |
Het |
Gna13 |
T |
C |
11: 109,286,948 (GRCm39) |
M257T |
possibly damaging |
Het |
Hsd11b2 |
G |
A |
8: 106,248,949 (GRCm39) |
R147H |
probably benign |
Het |
Hydin |
A |
G |
8: 111,266,434 (GRCm39) |
Y2865C |
probably benign |
Het |
Igdcc3 |
A |
G |
9: 65,090,320 (GRCm39) |
N610D |
probably damaging |
Het |
Ipp |
T |
A |
4: 116,367,606 (GRCm39) |
|
probably null |
Het |
Kdm5d |
A |
G |
Y: 927,425 (GRCm39) |
T682A |
probably benign |
Het |
Megf8 |
A |
G |
7: 25,030,460 (GRCm39) |
Y471C |
probably benign |
Het |
Mprip |
T |
C |
11: 59,640,456 (GRCm39) |
|
probably null |
Het |
Mtres1 |
ACTGCACCACCT |
ACT |
10: 43,408,721 (GRCm39) |
|
probably benign |
Het |
Myrfl |
T |
A |
10: 116,684,187 (GRCm39) |
R179* |
probably null |
Het |
Nek1 |
C |
A |
8: 61,525,364 (GRCm39) |
Q601K |
possibly damaging |
Het |
Neurod4 |
C |
G |
10: 130,106,583 (GRCm39) |
K230N |
probably damaging |
Het |
Or1ab2 |
C |
T |
8: 72,863,707 (GRCm39) |
T99I |
possibly damaging |
Het |
Or8u10 |
A |
G |
2: 85,916,082 (GRCm39) |
I13T |
possibly damaging |
Het |
Orc3 |
A |
G |
4: 34,605,539 (GRCm39) |
L114P |
probably damaging |
Het |
Rag1 |
T |
C |
2: 101,472,292 (GRCm39) |
D950G |
probably damaging |
Het |
Rasgrp2 |
G |
A |
19: 6,463,213 (GRCm39) |
S504N |
probably benign |
Het |
Rgl2 |
A |
G |
17: 34,151,661 (GRCm39) |
D235G |
probably benign |
Het |
Slc39a1 |
T |
A |
3: 90,156,759 (GRCm39) |
V105E |
probably damaging |
Het |
Tesk2 |
T |
A |
4: 116,658,995 (GRCm39) |
C291S |
probably damaging |
Het |
Tmco3 |
T |
A |
8: 13,363,927 (GRCm39) |
F83Y |
probably damaging |
Het |
Trim25 |
T |
C |
11: 88,901,713 (GRCm39) |
I336T |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,643,170 (GRCm39) |
I4177M |
probably damaging |
Het |
Veph1 |
T |
A |
3: 66,162,458 (GRCm39) |
T67S |
probably damaging |
Het |
Vmn2r43 |
A |
G |
7: 8,258,125 (GRCm39) |
F363L |
probably benign |
Het |
Vps28 |
A |
T |
15: 76,506,871 (GRCm39) |
I109N |
probably damaging |
Het |
Vps50 |
A |
G |
6: 3,517,835 (GRCm39) |
D91G |
probably benign |
Het |
Wdr20 |
T |
C |
12: 110,760,133 (GRCm39) |
F340L |
probably benign |
Het |
Wdr95 |
A |
G |
5: 149,504,388 (GRCm39) |
|
probably null |
Het |
Zfand6 |
A |
G |
7: 84,265,122 (GRCm39) |
V193A |
probably damaging |
Het |
Zfp703 |
C |
A |
8: 27,468,668 (GRCm39) |
P111T |
probably 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 |
|
R5711: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 |
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'- GCCTTGTCTATCTGGCTCAG -3'
(R):5'- AGACACTGGTTCACTTGCAG -3'
Sequencing Primer
(F):5'- GCTCAGCATCATCGTTTTTGGAAAC -3'
(R):5'- TTCACTTGCAGCCAGGGAAG -3'
|
Posted On |
2018-10-18 |