Incidental Mutation 'IGL00931:Slc35c1'
| ID |
26907 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc35c1
|
| Ensembl Gene |
ENSMUSG00000049922 |
| Gene Name |
solute carrier family 35, member C1 |
| Synonyms |
E430007K15Rik, FUCT1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.400)
|
| Stock # |
IGL00931
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
92283109-92290863 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92289239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 89
(D89G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137748
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067631]
[ENSMUST00000125276]
[ENSMUST00000136718]
|
| AlphaFold |
Q8BLX4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067631
AA Change: D102G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000063461
Gene: ENSMUSG00000049922
AA Change: D102G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
28 |
N/A |
INTRINSIC |
|
Pfam:TPT
|
38 |
336 |
5.1e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125276
AA Change: D89G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119271
Gene: ENSMUSG00000049922
AA Change: D89G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
15 |
N/A |
INTRINSIC |
|
Pfam:UAA
|
27 |
330 |
2e-11 |
PFAM |
|
Pfam:TPT
|
184 |
325 |
3.8e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136718
AA Change: D89G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000137748
Gene: ENSMUSG00000049922
AA Change: D89G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
15 |
N/A |
INTRINSIC |
|
Pfam:UAA
|
27 |
158 |
4.5e-7 |
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 GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit partial perinatal and postnatal lethality, growth retardation, reduced fertility, leukocytosis, defective lung and primary lymph node development and altered lymphocyte rolling and adhesion. Mortality is increased on an inbred background. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a2 |
G |
A |
9: 71,123,251 (GRCm39) |
|
probably benign |
Het |
| Col24a1 |
A |
G |
3: 145,167,225 (GRCm39) |
M1101V |
probably benign |
Het |
| Cyp4a12a |
G |
A |
4: 115,159,153 (GRCm39) |
R141Q |
possibly damaging |
Het |
| Ddx60 |
C |
T |
8: 62,422,617 (GRCm39) |
S618L |
probably benign |
Het |
| Dnmt3b |
T |
A |
2: 153,528,170 (GRCm39) |
|
probably benign |
Het |
| Dzip3 |
A |
T |
16: 48,755,860 (GRCm39) |
|
probably null |
Het |
| Fads2 |
A |
T |
19: 10,043,649 (GRCm39) |
D348E |
probably benign |
Het |
| Gpcpd1 |
G |
T |
2: 132,380,038 (GRCm39) |
F434L |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Hoxa7 |
T |
C |
6: 52,194,286 (GRCm39) |
N34D |
possibly damaging |
Het |
| Ifitm1 |
A |
T |
7: 140,548,169 (GRCm39) |
M1L |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 26,882,772 (GRCm39) |
S605L |
possibly damaging |
Het |
| Myh7b |
A |
G |
2: 155,472,212 (GRCm39) |
D1261G |
probably damaging |
Het |
| Ndufs3 |
A |
G |
2: 90,732,846 (GRCm39) |
|
probably null |
Het |
| Nedd4l |
T |
C |
18: 65,305,470 (GRCm39) |
I297T |
possibly damaging |
Het |
| Nfe2l2 |
A |
G |
2: 75,506,342 (GRCm39) |
V586A |
probably damaging |
Het |
| Slc1a2 |
T |
A |
2: 102,586,457 (GRCm39) |
W354R |
probably damaging |
Het |
| Tcaf3 |
T |
C |
6: 42,574,162 (GRCm39) |
T17A |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,398,854 (GRCm39) |
M500L |
probably benign |
Het |
|
| Other mutations in Slc35c1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00466:Slc35c1
|
APN |
2 |
92,284,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0350:Slc35c1
|
UTSW |
2 |
92,289,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0458:Slc35c1
|
UTSW |
2 |
92,284,858 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0589:Slc35c1
|
UTSW |
2 |
92,284,859 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1878:Slc35c1
|
UTSW |
2 |
92,289,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1997:Slc35c1
|
UTSW |
2 |
92,284,984 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2329:Slc35c1
|
UTSW |
2 |
92,289,040 (GRCm39) |
nonsense |
probably null |
|
|
R2473:Slc35c1
|
UTSW |
2 |
92,285,098 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2568:Slc35c1
|
UTSW |
2 |
92,289,225 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4583:Slc35c1
|
UTSW |
2 |
92,289,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4761:Slc35c1
|
UTSW |
2 |
92,289,168 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5021:Slc35c1
|
UTSW |
2 |
92,289,366 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7296:Slc35c1
|
UTSW |
2 |
92,289,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7877:Slc35c1
|
UTSW |
2 |
92,289,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8446:Slc35c1
|
UTSW |
2 |
92,284,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8519:Slc35c1
|
UTSW |
2 |
92,285,052 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1176:Slc35c1
|
UTSW |
2 |
92,289,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation