Incidental Mutation 'IGL02244:Slc35e2'
ID |
286115 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc35e2
|
Ensembl Gene |
ENSMUSG00000042202 |
Gene Name |
solute carrier family 35, member E2 |
Synonyms |
A530082C11Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02244
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
155685873-155707797 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 155703019 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 344
(V344D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113189
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043829]
[ENSMUST00000105608]
[ENSMUST00000115821]
[ENSMUST00000118607]
|
AlphaFold |
Q8C811 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043829
AA Change: V344D
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000041449 Gene: ENSMUSG00000042202 AA Change: V344D
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 damaging
Transcript: ENSMUST00000105608
AA Change: V344D
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101233 Gene: ENSMUSG00000042202 AA Change: V344D
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 damaging
Transcript: ENSMUST00000118607
AA Change: V344D
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113189 Gene: ENSMUSG00000042202 AA Change: V344D
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: ENSMUST00000128841
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137752
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154931
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151425
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932438H23Rik |
G |
T |
16: 90,853,085 (GRCm39) |
T17K |
probably benign |
Het |
Agbl1 |
T |
C |
7: 76,416,120 (GRCm39) |
S714P |
probably damaging |
Het |
Araf |
A |
G |
X: 20,719,835 (GRCm39) |
|
probably benign |
Het |
Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
Armc8 |
A |
T |
9: 99,365,227 (GRCm39) |
D638E |
probably benign |
Het |
Bpifb5 |
C |
T |
2: 154,067,068 (GRCm39) |
T107I |
possibly damaging |
Het |
Ces1e |
A |
C |
8: 93,938,977 (GRCm39) |
|
probably null |
Het |
Col4a3 |
C |
A |
1: 82,647,492 (GRCm39) |
|
probably benign |
Het |
Col4a5 |
A |
G |
X: 140,382,669 (GRCm39) |
|
probably benign |
Het |
Crocc |
T |
C |
4: 140,765,231 (GRCm39) |
H477R |
probably benign |
Het |
Dgkd |
C |
A |
1: 87,842,863 (GRCm39) |
N130K |
probably benign |
Het |
Dock1 |
C |
T |
7: 134,379,174 (GRCm39) |
Q634* |
probably null |
Het |
Dzip3 |
C |
T |
16: 48,801,351 (GRCm39) |
V58I |
probably benign |
Het |
Fndc3a |
A |
G |
14: 72,793,807 (GRCm39) |
|
probably benign |
Het |
Glp2r |
C |
T |
11: 67,612,817 (GRCm39) |
R379H |
probably damaging |
Het |
Kctd12b |
T |
A |
X: 152,472,330 (GRCm39) |
M120L |
probably benign |
Het |
Krt33b |
A |
G |
11: 99,916,189 (GRCm39) |
V258A |
probably benign |
Het |
Lpin1 |
T |
A |
12: 16,591,770 (GRCm39) |
N819I |
probably damaging |
Het |
Lurap1l |
T |
C |
4: 80,871,866 (GRCm39) |
S120P |
probably damaging |
Het |
Lysmd4 |
T |
C |
7: 66,875,672 (GRCm39) |
S112P |
probably damaging |
Het |
Myo1e |
A |
G |
9: 70,274,971 (GRCm39) |
K708R |
probably benign |
Het |
Nr3c1 |
T |
A |
18: 39,554,610 (GRCm39) |
|
probably benign |
Het |
Nup62cl |
G |
T |
X: 138,922,780 (GRCm39) |
N239K |
probably benign |
Het |
Nwd1 |
A |
T |
8: 73,434,210 (GRCm39) |
E1269V |
probably damaging |
Het |
Or52e7 |
C |
T |
7: 104,685,152 (GRCm39) |
T249M |
probably damaging |
Het |
Pcdh9 |
A |
C |
14: 93,564,204 (GRCm39) |
L1084R |
probably damaging |
Het |
Plxnd1 |
A |
G |
6: 115,955,218 (GRCm39) |
M543T |
probably benign |
Het |
Prss53 |
T |
A |
7: 127,487,964 (GRCm39) |
T173S |
possibly damaging |
Het |
Reep2 |
C |
A |
18: 34,973,807 (GRCm39) |
|
probably benign |
Het |
Rp1 |
T |
C |
1: 4,419,003 (GRCm39) |
D703G |
probably benign |
Het |
Sbf2 |
T |
G |
7: 110,159,502 (GRCm39) |
D36A |
probably damaging |
Het |
Sh3kbp1 |
C |
T |
X: 158,586,724 (GRCm39) |
R99W |
probably damaging |
Het |
Sis |
T |
A |
3: 72,863,523 (GRCm39) |
R238S |
probably benign |
Het |
Specc1 |
G |
A |
11: 62,019,194 (GRCm39) |
V678I |
probably benign |
Het |
Supt6 |
T |
C |
11: 78,123,623 (GRCm39) |
D49G |
possibly damaging |
Het |
Tecpr1 |
G |
A |
5: 144,146,821 (GRCm39) |
A515V |
probably benign |
Het |
Tlr4 |
G |
A |
4: 66,752,298 (GRCm39) |
|
probably null |
Het |
Tmco5b |
A |
G |
2: 113,118,619 (GRCm39) |
E114G |
probably damaging |
Het |
Tspear |
A |
T |
10: 77,688,690 (GRCm39) |
|
probably benign |
Het |
Txlnb |
T |
A |
10: 17,719,116 (GRCm39) |
V649E |
probably benign |
Het |
Utp20 |
A |
G |
10: 88,651,818 (GRCm39) |
|
probably benign |
Het |
Virma |
G |
A |
4: 11,546,031 (GRCm39) |
R1673Q |
probably damaging |
Het |
Vmn2r70 |
T |
A |
7: 85,214,211 (GRCm39) |
T314S |
probably benign |
Het |
Zfp938 |
G |
T |
10: 82,061,906 (GRCm39) |
T238K |
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 |
|
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 |
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 |
|
Posted On |
2015-04-16 |