Incidental Mutation 'IGL02693:Slc35f1'
ID |
303818 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02693
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
52566629-52987718 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 52809224 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 70
(L70F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101113
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105473]
|
AlphaFold |
Q8BGK5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105473
AA Change: L70F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101113 Gene: ENSMUSG00000038602 AA Change: L70F
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
A |
G |
1: 11,666,506 (GRCm39) |
D271G |
probably damaging |
Het |
Agl |
A |
T |
3: 116,540,077 (GRCm39) |
V1478E |
possibly damaging |
Het |
Ckap5 |
C |
T |
2: 91,400,556 (GRCm39) |
P636L |
probably damaging |
Het |
Cnot1 |
A |
G |
8: 96,500,113 (GRCm39) |
V127A |
probably damaging |
Het |
Cs |
A |
G |
10: 128,185,678 (GRCm39) |
|
probably benign |
Het |
Fbln1 |
G |
A |
15: 85,113,775 (GRCm39) |
E170K |
probably benign |
Het |
Gm5866 |
A |
T |
5: 52,740,558 (GRCm39) |
|
noncoding transcript |
Het |
Lpin3 |
T |
C |
2: 160,746,975 (GRCm39) |
V794A |
probably damaging |
Het |
Ly86 |
T |
G |
13: 37,559,005 (GRCm39) |
I68S |
probably damaging |
Het |
Mrps34 |
A |
G |
17: 25,114,172 (GRCm39) |
I11V |
probably benign |
Het |
Nsmce4a |
A |
G |
7: 130,144,538 (GRCm39) |
S122P |
probably damaging |
Het |
Olfm1 |
A |
G |
2: 28,102,662 (GRCm39) |
E112G |
probably damaging |
Het |
Or5w20 |
T |
G |
2: 87,726,877 (GRCm39) |
C111W |
probably damaging |
Het |
Parp9 |
A |
G |
16: 35,777,340 (GRCm39) |
E428G |
probably benign |
Het |
Phkb |
T |
G |
8: 86,668,863 (GRCm39) |
F297V |
probably damaging |
Het |
Pianp |
T |
G |
6: 124,978,598 (GRCm39) |
F268V |
possibly damaging |
Het |
Polr1a |
T |
C |
6: 71,940,830 (GRCm39) |
|
probably benign |
Het |
Prune2 |
G |
A |
19: 17,101,855 (GRCm39) |
G2453E |
probably benign |
Het |
Ptpn4 |
T |
C |
1: 119,643,699 (GRCm39) |
N350D |
probably damaging |
Het |
Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
Rfc4 |
A |
G |
16: 22,932,960 (GRCm39) |
S326P |
probably damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Slc5a7 |
T |
C |
17: 54,583,947 (GRCm39) |
T448A |
probably benign |
Het |
Spata31h1 |
T |
C |
10: 82,121,092 (GRCm39) |
I3973V |
probably benign |
Het |
Spmip9 |
C |
A |
6: 70,890,488 (GRCm39) |
R101S |
possibly damaging |
Het |
Stoml1 |
T |
A |
9: 58,164,359 (GRCm39) |
I149N |
probably damaging |
Het |
Sytl1 |
A |
T |
4: 132,985,057 (GRCm39) |
C180S |
probably benign |
Het |
Traf6 |
T |
C |
2: 101,518,850 (GRCm39) |
L113P |
possibly damaging |
Het |
Trappc9 |
A |
G |
15: 72,835,542 (GRCm39) |
|
probably benign |
Het |
Tubg2 |
T |
C |
11: 101,051,725 (GRCm39) |
Y317H |
probably damaging |
Het |
Zfp334 |
T |
C |
2: 165,222,433 (GRCm39) |
T537A |
possibly damaging |
Het |
|
Other mutations in Slc35f1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00434:Slc35f1
|
APN |
10 |
52,938,548 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01073:Slc35f1
|
APN |
10 |
52,898,056 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01433:Slc35f1
|
APN |
10 |
52,949,542 (GRCm39) |
splice site |
probably benign |
|
IGL01566:Slc35f1
|
APN |
10 |
52,965,551 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02870:Slc35f1
|
APN |
10 |
52,809,303 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL03082:Slc35f1
|
APN |
10 |
52,809,234 (GRCm39) |
missense |
probably benign |
|
R0884:Slc35f1
|
UTSW |
10 |
52,965,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R1340:Slc35f1
|
UTSW |
10 |
52,965,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R1781:Slc35f1
|
UTSW |
10 |
52,938,532 (GRCm39) |
splice site |
probably null |
|
R1813:Slc35f1
|
UTSW |
10 |
52,809,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1908:Slc35f1
|
UTSW |
10 |
52,898,000 (GRCm39) |
missense |
possibly damaging |
0.84 |
R2044:Slc35f1
|
UTSW |
10 |
52,965,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R2518:Slc35f1
|
UTSW |
10 |
52,949,630 (GRCm39) |
missense |
probably benign |
0.07 |
R3872:Slc35f1
|
UTSW |
10 |
52,898,006 (GRCm39) |
missense |
possibly damaging |
0.87 |
R3934:Slc35f1
|
UTSW |
10 |
52,984,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R3935:Slc35f1
|
UTSW |
10 |
52,984,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R3936:Slc35f1
|
UTSW |
10 |
52,984,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R4118:Slc35f1
|
UTSW |
10 |
52,965,464 (GRCm39) |
missense |
probably damaging |
0.98 |
R4921:Slc35f1
|
UTSW |
10 |
52,938,698 (GRCm39) |
missense |
probably damaging |
0.99 |
R5116:Slc35f1
|
UTSW |
10 |
52,897,991 (GRCm39) |
missense |
probably benign |
0.39 |
R5378:Slc35f1
|
UTSW |
10 |
52,567,157 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5387:Slc35f1
|
UTSW |
10 |
52,984,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R5500:Slc35f1
|
UTSW |
10 |
52,809,318 (GRCm39) |
missense |
probably damaging |
0.99 |
R5590:Slc35f1
|
UTSW |
10 |
52,984,274 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5743:Slc35f1
|
UTSW |
10 |
52,965,546 (GRCm39) |
missense |
probably benign |
0.06 |
R5916:Slc35f1
|
UTSW |
10 |
52,809,317 (GRCm39) |
nonsense |
probably null |
|
R6985:Slc35f1
|
UTSW |
10 |
52,898,007 (GRCm39) |
missense |
probably benign |
0.02 |
R7068:Slc35f1
|
UTSW |
10 |
52,938,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R7295:Slc35f1
|
UTSW |
10 |
52,938,637 (GRCm39) |
missense |
probably benign |
0.00 |
R7427:Slc35f1
|
UTSW |
10 |
52,965,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R7428:Slc35f1
|
UTSW |
10 |
52,965,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R8334:Slc35f1
|
UTSW |
10 |
52,984,244 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Posted On |
2015-04-16 |