Incidental Mutation 'IGL02092:Slc35a3'
| ID |
279451 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc35a3
|
| Ensembl Gene |
ENSMUSG00000027957 |
| Gene Name |
solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3 |
| Synonyms |
2310050P13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
IGL02092
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
116463118-116506366 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116474781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 204
(S204P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029569]
[ENSMUST00000120120]
[ENSMUST00000153108]
[ENSMUST00000196335]
|
| AlphaFold |
Q8R1T4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029569
AA Change: S204P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000029569
Gene: ENSMUSG00000027957
AA Change: S204P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nuc_sug_transp
|
1 |
314 |
2.3e-141 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120120
AA Change: S204P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112674
Gene: ENSMUSG00000027957
AA Change: S204P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UAA
|
13 |
320 |
1.4e-11 |
PFAM |
|
Pfam:EamA
|
29 |
156 |
2.1e-8 |
PFAM |
|
Pfam:TPT
|
38 |
154 |
1.2e-7 |
PFAM |
|
Pfam:Nuc_sug_transp
|
68 |
306 |
6.3e-105 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000140672
AA Change: S43P
|
| SMART Domains |
Protein: ENSMUSP00000114952
Gene: ENSMUSG00000105103
AA Change: S43P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nuc_sug_transp
|
2 |
129 |
2.4e-39 |
PFAM |
|
Pfam:MFS_1
|
104 |
235 |
1e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153108
AA Change: S204P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000123641
Gene: ENSMUSG00000027957
AA Change: S204P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UAA
|
10 |
209 |
1.6e-10 |
PFAM |
|
Pfam:EamA
|
27 |
156 |
6.2e-9 |
PFAM |
|
Pfam:TPT
|
37 |
154 |
3.2e-8 |
PFAM |
|
Pfam:Nuc_sug_transp
|
68 |
212 |
1.6e-65 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196331
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196335
|
| SMART Domains |
Protein: ENSMUSP00000142374
Gene: ENSMUSG00000027957
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:EamA
|
29 |
156 |
6.8e-7 |
PFAM |
|
Pfam:TPT
|
34 |
154 |
1.6e-6 |
PFAM |
|
Pfam:Nuc_sug_transp
|
68 |
167 |
5.9e-40 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a UDP-N-acetylglucosamine transporter found in the golgi apparatus membrane. In cattle, a missense mutation in this gene causes complex vertebral malformation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010H22Rik |
T |
A |
5: 98,714,627 (GRCm39) |
|
probably benign |
Het |
| Birc7 |
A |
T |
2: 180,574,979 (GRCm39) |
R238S |
probably benign |
Het |
| Cdc42bpg |
C |
A |
19: 6,366,856 (GRCm39) |
|
probably benign |
Het |
| Ces3a |
T |
C |
8: 105,776,962 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
T |
C |
6: 46,211,137 (GRCm39) |
F517S |
probably damaging |
Het |
| Cracr2b |
A |
G |
7: 141,044,869 (GRCm39) |
E201G |
probably damaging |
Het |
| Cyth3 |
T |
C |
5: 143,693,140 (GRCm39) |
|
probably benign |
Het |
| Exoc2 |
A |
T |
13: 31,059,260 (GRCm39) |
N611K |
probably benign |
Het |
| Fign |
A |
T |
2: 63,810,927 (GRCm39) |
N114K |
possibly damaging |
Het |
| Gabrb3 |
A |
G |
7: 57,415,334 (GRCm39) |
T135A |
probably damaging |
Het |
| Htra3 |
T |
C |
5: 35,828,416 (GRCm39) |
K155E |
probably damaging |
Het |
| Inpp5f |
T |
C |
7: 128,286,948 (GRCm39) |
L609S |
probably damaging |
Het |
| Kcp |
C |
A |
6: 29,489,031 (GRCm39) |
|
probably null |
Het |
| Map4k4 |
A |
G |
1: 40,025,943 (GRCm39) |
K311R |
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,063,508 (GRCm39) |
K1228E |
probably damaging |
Het |
| Muc20 |
G |
A |
16: 32,614,642 (GRCm39) |
S245F |
probably damaging |
Het |
| Or10ak8 |
A |
G |
4: 118,774,187 (GRCm39) |
L159S |
possibly damaging |
Het |
| Or7g33 |
T |
A |
9: 19,449,046 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or8b36 |
T |
G |
9: 37,937,917 (GRCm39) |
S272A |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,136,360 (GRCm39) |
M892T |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,784,637 (GRCm39) |
T234A |
probably damaging |
Het |
| Sema4g |
G |
A |
19: 44,981,078 (GRCm39) |
|
probably null |
Het |
| Speer4f2 |
C |
T |
5: 17,581,627 (GRCm39) |
Q190* |
probably null |
Het |
| Szt2 |
A |
G |
4: 118,220,529 (GRCm39) |
|
probably benign |
Het |
| Tacr1 |
T |
C |
6: 82,380,900 (GRCm39) |
Y104H |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,324,120 (GRCm39) |
E173G |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,749,695 (GRCm39) |
I8T |
possibly damaging |
Het |
| Trpv1 |
T |
A |
11: 73,136,905 (GRCm39) |
|
probably benign |
Het |
| Ufsp2 |
T |
C |
8: 46,448,701 (GRCm39) |
|
probably null |
Het |
| Wwc2 |
T |
C |
8: 48,317,570 (GRCm39) |
D669G |
unknown |
Het |
| Zfp940 |
T |
C |
7: 29,545,626 (GRCm39) |
T94A |
probably benign |
Het |
| Zfp947 |
T |
G |
17: 22,366,477 (GRCm39) |
D17A |
probably damaging |
Het |
|
| Other mutations in Slc35a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01285:Slc35a3
|
APN |
3 |
116,488,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02424:Slc35a3
|
APN |
3 |
116,488,267 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03304:Slc35a3
|
APN |
3 |
116,480,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Slc35a3
|
UTSW |
3 |
116,480,983 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1465:Slc35a3
|
UTSW |
3 |
116,480,983 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1753:Slc35a3
|
UTSW |
3 |
116,471,597 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2035:Slc35a3
|
UTSW |
3 |
116,480,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2265:Slc35a3
|
UTSW |
3 |
116,467,285 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2266:Slc35a3
|
UTSW |
3 |
116,467,285 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2267:Slc35a3
|
UTSW |
3 |
116,467,285 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2268:Slc35a3
|
UTSW |
3 |
116,467,285 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4073:Slc35a3
|
UTSW |
3 |
116,468,887 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5187:Slc35a3
|
UTSW |
3 |
116,474,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5490:Slc35a3
|
UTSW |
3 |
116,474,839 (GRCm39) |
nonsense |
probably null |
|
|
R6841:Slc35a3
|
UTSW |
3 |
116,506,417 (GRCm39) |
missense |
probably null |
|
|
R7270:Slc35a3
|
UTSW |
3 |
116,505,455 (GRCm39) |
intron |
probably benign |
|
|
R7964:Slc35a3
|
UTSW |
3 |
116,480,984 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8747:Slc35a3
|
UTSW |
3 |
116,488,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9556:Slc35a3
|
UTSW |
3 |
116,474,763 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Posted On |
2015-04-16 |
Incidental Mutation