Incidental Mutation 'R2329:Slc35c1'
| ID |
245786 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc35c1
|
| Ensembl Gene |
ENSMUSG00000049922 |
| Gene Name |
solute carrier family 35, member C1 |
| Synonyms |
E430007K15Rik, FUCT1 |
| MMRRC Submission |
040320-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.356)
|
| Stock # |
R2329 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
92283109-92290863 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 92289040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 155
(Y155*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137748
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067631]
[ENSMUST00000125276]
[ENSMUST00000136718]
|
| AlphaFold |
Q8BLX4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000067631
AA Change: Y168*
|
| SMART Domains |
Protein: ENSMUSP00000063461
Gene: ENSMUSG00000049922
AA Change: Y168*
| 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 null
Transcript: ENSMUST00000125276
AA Change: Y155*
|
| SMART Domains |
Protein: ENSMUSP00000119271
Gene: ENSMUSG00000049922
AA Change: Y155*
| 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 null
Transcript: ENSMUST00000136718
AA Change: Y155*
|
| SMART Domains |
Protein: ENSMUSP00000137748
Gene: ENSMUSG00000049922
AA Change: Y155*
| 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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.8%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
C |
13: 77,451,444 (GRCm39) |
S843R |
probably benign |
Het |
| Adamts15 |
G |
T |
9: 30,813,781 (GRCm39) |
R795S |
probably damaging |
Het |
| Adora2a |
T |
A |
10: 75,162,017 (GRCm39) |
V52E |
probably damaging |
Het |
| Amph |
T |
A |
13: 19,323,520 (GRCm39) |
L594Q |
probably benign |
Het |
| Batf3 |
A |
T |
1: 190,840,646 (GRCm39) |
|
probably null |
Het |
| Ccdc146 |
C |
T |
5: 21,513,610 (GRCm39) |
|
probably null |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Csn3 |
A |
G |
5: 88,077,862 (GRCm39) |
T123A |
possibly damaging |
Het |
| Cspg4 |
A |
G |
9: 56,795,834 (GRCm39) |
T1190A |
probably benign |
Het |
| Dab2 |
C |
A |
15: 6,459,044 (GRCm39) |
Q298K |
possibly damaging |
Het |
| Dpp6 |
T |
C |
5: 27,656,286 (GRCm39) |
|
probably null |
Het |
| Efcab6 |
C |
T |
15: 83,834,249 (GRCm39) |
R453Q |
possibly damaging |
Het |
| Ern2 |
C |
T |
7: 121,772,710 (GRCm39) |
M610I |
possibly damaging |
Het |
| Fnip1 |
A |
G |
11: 54,356,933 (GRCm39) |
D38G |
probably damaging |
Het |
| Fosb |
T |
C |
7: 19,041,110 (GRCm39) |
T128A |
probably benign |
Het |
| Gad2 |
G |
A |
2: 22,558,301 (GRCm39) |
V340M |
probably damaging |
Het |
| Gm19684 |
T |
A |
17: 36,439,345 (GRCm39) |
|
probably benign |
Het |
| Gstk1 |
T |
A |
6: 42,223,848 (GRCm39) |
D86E |
possibly damaging |
Het |
| Hus1 |
A |
G |
11: 8,957,492 (GRCm39) |
|
probably null |
Het |
| Kbtbd8 |
T |
C |
6: 95,103,761 (GRCm39) |
I547T |
probably benign |
Het |
| Mrpl38 |
T |
A |
11: 116,022,845 (GRCm39) |
H373L |
possibly damaging |
Het |
| Nostrin |
A |
T |
2: 68,991,438 (GRCm39) |
T144S |
probably damaging |
Het |
| Prl8a6 |
T |
C |
13: 27,621,050 (GRCm39) |
H60R |
probably benign |
Het |
| Ros1 |
A |
G |
10: 52,038,983 (GRCm39) |
I329T |
probably damaging |
Het |
| Scd2 |
T |
A |
19: 44,286,492 (GRCm39) |
Y107* |
probably null |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc34a3 |
T |
C |
2: 25,119,422 (GRCm39) |
T483A |
possibly damaging |
Het |
| Susd1 |
T |
C |
4: 59,379,715 (GRCm39) |
D304G |
possibly damaging |
Het |
| Taf5 |
C |
T |
19: 47,063,563 (GRCm39) |
S371L |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,545,069 (GRCm39) |
T2362A |
probably benign |
Het |
| Tsg101 |
A |
T |
7: 46,540,868 (GRCm39) |
D158E |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,599,786 (GRCm39) |
P19102S |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,608,412 (GRCm39) |
V17837A |
probably damaging |
Het |
| Uhrf1 |
C |
A |
17: 56,617,671 (GRCm39) |
|
probably null |
Het |
| Ulk4 |
C |
T |
9: 121,101,953 (GRCm39) |
E42K |
probably damaging |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,387 (GRCm39) |
L44F |
probably damaging |
Het |
| Zfp932 |
A |
T |
5: 110,157,406 (GRCm39) |
H368L |
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 |
|
IGL00931:Slc35c1
|
APN |
2 |
92,289,239 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGCTGGATCCCTAACTTAC -3'
(R):5'- TGACCTCACTGCTGTGCAAG -3'
Sequencing Primer
(F):5'- GGCTGGATCCCTAACTTACTGAGTC -3'
(R):5'- GCATGGTAGACTTCCCCAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation