Incidental Mutation 'R3934:Slc35f1'
| ID |
306945 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc35f1
|
| Ensembl Gene |
ENSMUSG00000038602 |
| Gene Name |
solute carrier family 35, member F1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3934 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
52690533-53111622 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 53108218 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 358
(T358I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101113
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105473]
|
| AlphaFold |
Q8BGK5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105473
AA Change: T358I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101113
Gene: ENSMUSG00000038602
AA Change: T358I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
Pfam:SLC35F
|
56 |
355 |
1.4e-151 |
PFAM |
|
Pfam:CRT-like
|
66 |
315 |
2.3e-13 |
PFAM |
|
Pfam:EamA
|
217 |
355 |
1.7e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218783
|
| Meta Mutation Damage Score |
0.3129 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no detectable phenotypic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
T |
A |
12: 18,534,081 (GRCm38) |
Y381N |
possibly damaging |
Het |
| Adgrf3 |
T |
C |
5: 30,200,434 (GRCm38) |
|
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,475,047 (GRCm38) |
F3819S |
probably benign |
Het |
| Aig1 |
T |
C |
10: 13,801,912 (GRCm38) |
D112G |
probably damaging |
Het |
| Akap6 |
C |
T |
12: 53,140,444 (GRCm38) |
T1547M |
possibly damaging |
Het |
| Alk |
T |
A |
17: 72,205,954 (GRCm38) |
I337F |
probably damaging |
Het |
| C2cd5 |
C |
T |
6: 143,041,380 (GRCm38) |
V499I |
possibly damaging |
Het |
| Capn11 |
A |
T |
17: 45,634,287 (GRCm38) |
|
probably benign |
Het |
| Clstn3 |
G |
A |
6: 124,457,942 (GRCm38) |
T338I |
probably damaging |
Het |
| Cmbl |
A |
G |
15: 31,589,787 (GRCm38) |
D221G |
possibly damaging |
Het |
| Enpp2 |
A |
G |
15: 54,845,921 (GRCm38) |
V766A |
probably benign |
Het |
| Fastk |
G |
T |
5: 24,442,259 (GRCm38) |
S317* |
probably null |
Het |
| Fgfr1op2 |
T |
A |
6: 146,595,171 (GRCm38) |
|
probably benign |
Het |
| Gpr85 |
A |
G |
6: 13,836,045 (GRCm38) |
F287L |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,320,101 (GRCm38) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,380,484 (GRCm38) |
|
probably null |
Het |
| Hspbp1 |
A |
T |
7: 4,664,595 (GRCm38) |
M271K |
probably benign |
Het |
| Itgb6 |
G |
A |
2: 60,611,411 (GRCm38) |
T685M |
possibly damaging |
Het |
| Itih5 |
G |
A |
2: 10,245,544 (GRCm38) |
V685I |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,310,531 (GRCm38) |
S421G |
probably benign |
Het |
| Mcm2 |
G |
A |
6: 88,893,008 (GRCm38) |
R60C |
probably damaging |
Het |
| Mitf |
C |
T |
6: 97,993,253 (GRCm38) |
P54S |
probably damaging |
Het |
| Perm1 |
A |
G |
4: 156,219,170 (GRCm38) |
T724A |
probably benign |
Het |
| Pex5l |
T |
C |
3: 33,007,172 (GRCm38) |
E176G |
probably damaging |
Het |
| Polk |
A |
T |
13: 96,501,635 (GRCm38) |
M192K |
possibly damaging |
Het |
| Polr3a |
T |
C |
14: 24,476,101 (GRCm38) |
I401V |
probably benign |
Het |
| Prpf38b |
T |
C |
3: 108,904,425 (GRCm38) |
|
probably benign |
Het |
| Sema3c |
T |
C |
5: 17,681,940 (GRCm38) |
S330P |
probably damaging |
Het |
| Slc16a7 |
C |
A |
10: 125,230,843 (GRCm38) |
R309L |
probably damaging |
Het |
| Slc39a12 |
T |
A |
2: 14,434,363 (GRCm38) |
|
probably benign |
Het |
| Sod3 |
T |
C |
5: 52,368,645 (GRCm38) |
S229P |
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,713,504 (GRCm38) |
V608D |
probably damaging |
Het |
| Spink5 |
G |
T |
18: 44,016,427 (GRCm38) |
K958N |
probably damaging |
Het |
| Ttc7 |
A |
C |
17: 87,370,738 (GRCm38) |
|
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,263,511 (GRCm38) |
|
probably null |
Het |
| Vmn2r19 |
T |
A |
6: 123,315,669 (GRCm38) |
D223E |
probably damaging |
Het |
| Vwf |
T |
A |
6: 125,555,499 (GRCm38) |
S87T |
probably damaging |
Het |
| Wdr35 |
G |
T |
12: 9,008,014 (GRCm38) |
G513C |
probably damaging |
Het |
|
| Other mutations in Slc35f1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Slc35f1
|
APN |
10 |
53,062,452 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01073:Slc35f1
|
APN |
10 |
53,021,960 (GRCm38) |
missense |
probably benign |
0.16 |
|
IGL01433:Slc35f1
|
APN |
10 |
53,073,446 (GRCm38) |
splice site |
probably benign |
|
|
IGL01566:Slc35f1
|
APN |
10 |
53,089,455 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02693:Slc35f1
|
APN |
10 |
52,933,128 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02870:Slc35f1
|
APN |
10 |
52,933,207 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL03082:Slc35f1
|
APN |
10 |
52,933,138 (GRCm38) |
missense |
probably benign |
|
|
R0884:Slc35f1
|
UTSW |
10 |
53,089,347 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1340:Slc35f1
|
UTSW |
10 |
53,089,454 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1781:Slc35f1
|
UTSW |
10 |
53,062,436 (GRCm38) |
splice site |
probably null |
|
|
R1813:Slc35f1
|
UTSW |
10 |
52,933,195 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1908:Slc35f1
|
UTSW |
10 |
53,021,904 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R2044:Slc35f1
|
UTSW |
10 |
53,089,347 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2518:Slc35f1
|
UTSW |
10 |
53,073,534 (GRCm38) |
missense |
probably benign |
0.07 |
|
R3872:Slc35f1
|
UTSW |
10 |
53,021,910 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R3935:Slc35f1
|
UTSW |
10 |
53,108,218 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3936:Slc35f1
|
UTSW |
10 |
53,108,218 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4118:Slc35f1
|
UTSW |
10 |
53,089,368 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4921:Slc35f1
|
UTSW |
10 |
53,062,602 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5116:Slc35f1
|
UTSW |
10 |
53,021,895 (GRCm38) |
missense |
probably benign |
0.39 |
|
R5378:Slc35f1
|
UTSW |
10 |
52,691,061 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R5387:Slc35f1
|
UTSW |
10 |
53,108,164 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5500:Slc35f1
|
UTSW |
10 |
52,933,222 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5590:Slc35f1
|
UTSW |
10 |
53,108,178 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R5743:Slc35f1
|
UTSW |
10 |
53,089,450 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5916:Slc35f1
|
UTSW |
10 |
52,933,221 (GRCm38) |
nonsense |
probably null |
|
|
R6985:Slc35f1
|
UTSW |
10 |
53,021,911 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7068:Slc35f1
|
UTSW |
10 |
53,062,500 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7295:Slc35f1
|
UTSW |
10 |
53,062,541 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7427:Slc35f1
|
UTSW |
10 |
53,089,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7428:Slc35f1
|
UTSW |
10 |
53,089,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8334:Slc35f1
|
UTSW |
10 |
53,108,148 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACTTTCCATCAAGAGTATCAGC -3'
(R):5'- ACACATGGCCTCTGAGTTGTC -3'
Sequencing Primer
(F):5'- GAGTATCAGCTACCTCATCAAATTGC -3'
(R):5'- GAGTTGTCCTCAGTGGGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation