Incidental Mutation 'IGL03151:Slc35b1'
| ID |
411112 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc35b1
|
| Ensembl Gene |
ENSMUSG00000020873 |
| Gene Name |
solute carrier family 35, member B1 |
| Synonyms |
Ugalt2 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
IGL03151
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
95275696-95282602 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 95281212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156161
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021243]
[ENSMUST00000021243]
[ENSMUST00000131193]
[ENSMUST00000146556]
[ENSMUST00000232252]
|
| AlphaFold |
P97858 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021243
|
| SMART Domains |
Protein: ENSMUSP00000021243
Gene: ENSMUSG00000020873
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPT
|
12 |
309 |
1.3e-14 |
PFAM |
|
Pfam:UAA
|
13 |
313 |
2.1e-58 |
PFAM |
|
Pfam:EamA
|
170 |
309 |
1.9e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000021243
|
| SMART Domains |
Protein: ENSMUSP00000021243
Gene: ENSMUSG00000020873
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPT
|
12 |
309 |
1.3e-14 |
PFAM |
|
Pfam:UAA
|
13 |
313 |
2.1e-58 |
PFAM |
|
Pfam:EamA
|
170 |
309 |
1.9e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131193
|
| SMART Domains |
Protein: ENSMUSP00000125307
Gene: ENSMUSG00000020873
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UAA
|
14 |
91 |
5.6e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143090
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146556
|
| SMART Domains |
Protein: ENSMUSP00000125597
Gene: ENSMUSG00000020873
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
23 |
N/A |
INTRINSIC |
|
Pfam:EmrE
|
38 |
149 |
3.9e-9 |
PFAM |
|
Pfam:UAA
|
46 |
153 |
4.5e-30 |
PFAM |
|
Pfam:EamA
|
63 |
146 |
1.4e-6 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232252
|
| 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 nucleotide sugar transporter which is a member of solute carrier family 35. The transporters in this family are highly conserved hydrophobic proteins with multiple transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot1 |
G |
A |
12: 84,061,326 (GRCm39) |
A211T |
probably damaging |
Het |
| Ampd1 |
T |
C |
3: 102,999,786 (GRCm39) |
|
probably null |
Het |
| Armc3 |
T |
G |
2: 19,243,509 (GRCm39) |
L75R |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,820,065 (GRCm39) |
D573G |
probably benign |
Het |
| Baz1a |
T |
A |
12: 54,955,934 (GRCm39) |
|
probably null |
Het |
| C1ra |
A |
T |
6: 124,496,730 (GRCm39) |
I389F |
probably benign |
Het |
| Ccdc87 |
T |
A |
19: 4,891,585 (GRCm39) |
N692K |
probably benign |
Het |
| Ccr9 |
A |
G |
9: 123,603,638 (GRCm39) |
|
probably benign |
Het |
| Ces4a |
G |
T |
8: 105,874,829 (GRCm39) |
|
probably null |
Het |
| Dazap1 |
G |
A |
10: 80,116,754 (GRCm39) |
|
probably benign |
Het |
| Dock5 |
A |
G |
14: 68,103,516 (GRCm39) |
Y45H |
probably damaging |
Het |
| Eloa |
A |
T |
4: 135,737,732 (GRCm39) |
Y409* |
probably null |
Het |
| Fam170a |
A |
G |
18: 50,414,708 (GRCm39) |
E118G |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Glra1 |
C |
T |
11: 55,418,206 (GRCm39) |
V180I |
probably damaging |
Het |
| Il17rb |
T |
C |
14: 29,728,810 (GRCm39) |
T28A |
probably benign |
Het |
| Ints9 |
T |
A |
14: 65,269,789 (GRCm39) |
V493E |
possibly damaging |
Het |
| Kcnq5 |
C |
T |
1: 21,605,293 (GRCm39) |
C204Y |
probably damaging |
Het |
| Npc1 |
A |
T |
18: 12,352,332 (GRCm39) |
N122K |
probably benign |
Het |
| Or2b4 |
G |
A |
17: 38,116,159 (GRCm39) |
G41D |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Prss21 |
A |
G |
17: 24,088,376 (GRCm39) |
T114A |
probably damaging |
Het |
| Prss59 |
A |
G |
6: 40,902,946 (GRCm39) |
F142S |
probably damaging |
Het |
| Rab10 |
G |
A |
12: 3,299,812 (GRCm39) |
T193M |
probably benign |
Het |
| Serpini1 |
T |
A |
3: 75,520,603 (GRCm39) |
S67T |
probably benign |
Het |
| Sorbs2 |
A |
T |
8: 46,252,750 (GRCm39) |
H388L |
probably benign |
Het |
| Tfap2c |
T |
A |
2: 172,399,110 (GRCm39) |
C427* |
probably null |
Het |
| Trappc14 |
A |
G |
5: 138,260,934 (GRCm39) |
L237S |
possibly damaging |
Het |
| Ttn |
G |
T |
2: 76,632,732 (GRCm39) |
F14107L |
probably damaging |
Het |
| Upf1 |
G |
T |
8: 70,788,037 (GRCm39) |
T774K |
probably damaging |
Het |
| Vmn1r170 |
G |
A |
7: 23,306,002 (GRCm39) |
V135M |
probably benign |
Het |
| Vmn2r14 |
C |
T |
5: 109,364,260 (GRCm39) |
C552Y |
probably damaging |
Het |
| Zfp367 |
A |
G |
13: 64,293,445 (GRCm39) |
I147T |
probably damaging |
Het |
| Zfp952 |
T |
C |
17: 33,221,982 (GRCm39) |
S116P |
probably benign |
Het |
|
| Other mutations in Slc35b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01616:Slc35b1
|
APN |
11 |
95,279,910 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0026:Slc35b1
|
UTSW |
11 |
95,281,468 (GRCm39) |
missense |
probably benign |
|
|
R0026:Slc35b1
|
UTSW |
11 |
95,281,468 (GRCm39) |
missense |
probably benign |
|
|
R0125:Slc35b1
|
UTSW |
11 |
95,277,353 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1331:Slc35b1
|
UTSW |
11 |
95,276,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2061:Slc35b1
|
UTSW |
11 |
95,276,718 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2192:Slc35b1
|
UTSW |
11 |
95,276,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5283:Slc35b1
|
UTSW |
11 |
95,275,814 (GRCm39) |
start gained |
probably benign |
|
|
R5484:Slc35b1
|
UTSW |
11 |
95,278,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7620:Slc35b1
|
UTSW |
11 |
95,278,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8678:Slc35b1
|
UTSW |
11 |
95,278,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation