Incidental Mutation 'R3024:Slc35f5'
ID |
265764 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc35f5
|
Ensembl Gene |
ENSMUSG00000026342 |
Gene Name |
solute carrier family 35, member F5 |
Synonyms |
1300003P13Rik |
MMRRC Submission |
040540-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.177)
|
Stock # |
R3024 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
125488332-125523557 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 125496335 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 157
(S157G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027580
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027580]
[ENSMUST00000190037]
|
AlphaFold |
Q8R314 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027580
AA Change: S157G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000027580 Gene: ENSMUSG00000026342 AA Change: S157G
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
27 |
N/A |
INTRINSIC |
transmembrane domain
|
69 |
86 |
N/A |
INTRINSIC |
transmembrane domain
|
101 |
120 |
N/A |
INTRINSIC |
Pfam:EamA
|
226 |
317 |
2.1e-8 |
PFAM |
transmembrane domain
|
329 |
348 |
N/A |
INTRINSIC |
transmembrane domain
|
360 |
382 |
N/A |
INTRINSIC |
transmembrane domain
|
397 |
419 |
N/A |
INTRINSIC |
transmembrane domain
|
421 |
443 |
N/A |
INTRINSIC |
transmembrane domain
|
453 |
475 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190037
|
SMART Domains |
Protein: ENSMUSP00000139639 Gene: ENSMUSG00000026342
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
48 |
N/A |
INTRINSIC |
transmembrane domain
|
91 |
108 |
N/A |
INTRINSIC |
transmembrane domain
|
123 |
142 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef37 |
T |
C |
18: 61,634,959 (GRCm39) |
E461G |
probably damaging |
Het |
Bfsp1 |
A |
T |
2: 143,687,879 (GRCm39) |
V182D |
probably benign |
Het |
Birc6 |
T |
C |
17: 74,915,214 (GRCm39) |
S1635P |
possibly damaging |
Het |
Chil6 |
T |
C |
3: 106,296,086 (GRCm39) |
D383G |
probably damaging |
Het |
Itpr2 |
G |
A |
6: 146,081,808 (GRCm39) |
A175V |
probably benign |
Het |
Kcnh7 |
G |
T |
2: 62,595,007 (GRCm39) |
R688S |
probably damaging |
Het |
Krt6a |
A |
T |
15: 101,599,724 (GRCm39) |
C463S |
probably benign |
Het |
Ksr2 |
T |
A |
5: 117,693,125 (GRCm39) |
I191N |
possibly damaging |
Het |
Lyst |
T |
C |
13: 13,833,272 (GRCm39) |
V1698A |
probably benign |
Het |
Or12d13 |
A |
T |
17: 37,647,918 (GRCm39) |
D68E |
probably damaging |
Het |
Or4c127 |
A |
T |
2: 89,833,584 (GRCm39) |
N278I |
probably damaging |
Het |
Pappa2 |
C |
T |
1: 158,763,795 (GRCm39) |
R572Q |
probably benign |
Het |
Pes1 |
CGGAGGAGGAGGAGGAGGAGGAGG |
CGGAGGAGGAGGAGGAGGAGG |
11: 3,927,719 (GRCm39) |
|
probably benign |
Het |
Phf20 |
A |
G |
2: 156,129,787 (GRCm39) |
H453R |
probably damaging |
Het |
Prex1 |
G |
T |
2: 166,430,956 (GRCm39) |
H615Q |
probably benign |
Het |
Slc25a54 |
T |
A |
3: 108,987,982 (GRCm39) |
I41N |
probably damaging |
Het |
Sstr3 |
G |
A |
15: 78,424,187 (GRCm39) |
R187W |
probably damaging |
Het |
Trim41 |
T |
C |
11: 48,698,985 (GRCm39) |
K420E |
possibly damaging |
Het |
Tsnaxip1 |
A |
G |
8: 106,568,375 (GRCm39) |
Y353C |
probably damaging |
Het |
Vmn1r238 |
T |
C |
18: 3,123,305 (GRCm39) |
I36M |
probably benign |
Het |
Xylt1 |
T |
A |
7: 117,147,883 (GRCm39) |
V149D |
probably damaging |
Het |
Zfpm2 |
G |
A |
15: 40,966,355 (GRCm39) |
E815K |
probably benign |
Het |
|
Other mutations in Slc35f5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00662:Slc35f5
|
APN |
1 |
125,515,161 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01844:Slc35f5
|
APN |
1 |
125,517,612 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02218:Slc35f5
|
APN |
1 |
125,512,292 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02586:Slc35f5
|
APN |
1 |
125,512,273 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03000:Slc35f5
|
APN |
1 |
125,502,479 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03160:Slc35f5
|
APN |
1 |
125,502,472 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03181:Slc35f5
|
APN |
1 |
125,512,922 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02984:Slc35f5
|
UTSW |
1 |
125,490,250 (GRCm39) |
missense |
probably benign |
0.28 |
R0127:Slc35f5
|
UTSW |
1 |
125,503,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R0390:Slc35f5
|
UTSW |
1 |
125,512,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R0513:Slc35f5
|
UTSW |
1 |
125,503,906 (GRCm39) |
splice site |
probably benign |
|
R1701:Slc35f5
|
UTSW |
1 |
125,498,330 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1716:Slc35f5
|
UTSW |
1 |
125,512,269 (GRCm39) |
missense |
possibly damaging |
0.65 |
R2211:Slc35f5
|
UTSW |
1 |
125,507,001 (GRCm39) |
missense |
possibly damaging |
0.74 |
R3870:Slc35f5
|
UTSW |
1 |
125,490,098 (GRCm39) |
missense |
probably benign |
0.00 |
R4239:Slc35f5
|
UTSW |
1 |
125,500,211 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4547:Slc35f5
|
UTSW |
1 |
125,500,119 (GRCm39) |
missense |
probably benign |
0.00 |
R5622:Slc35f5
|
UTSW |
1 |
125,517,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R5688:Slc35f5
|
UTSW |
1 |
125,518,775 (GRCm39) |
missense |
probably benign |
0.23 |
R5876:Slc35f5
|
UTSW |
1 |
125,515,100 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6701:Slc35f5
|
UTSW |
1 |
125,490,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R7292:Slc35f5
|
UTSW |
1 |
125,500,222 (GRCm39) |
missense |
probably damaging |
0.99 |
R7368:Slc35f5
|
UTSW |
1 |
125,512,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R7530:Slc35f5
|
UTSW |
1 |
125,512,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R7807:Slc35f5
|
UTSW |
1 |
125,512,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R8004:Slc35f5
|
UTSW |
1 |
125,517,624 (GRCm39) |
missense |
probably damaging |
0.98 |
R8289:Slc35f5
|
UTSW |
1 |
125,490,252 (GRCm39) |
nonsense |
probably null |
|
R8435:Slc35f5
|
UTSW |
1 |
125,488,994 (GRCm39) |
nonsense |
probably null |
|
R9011:Slc35f5
|
UTSW |
1 |
125,490,050 (GRCm39) |
missense |
probably benign |
0.03 |
R9339:Slc35f5
|
UTSW |
1 |
125,517,628 (GRCm39) |
missense |
probably benign |
0.34 |
R9365:Slc35f5
|
UTSW |
1 |
125,496,333 (GRCm39) |
missense |
probably benign |
0.08 |
Z1177:Slc35f5
|
UTSW |
1 |
125,512,971 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Slc35f5
|
UTSW |
1 |
125,488,442 (GRCm39) |
start gained |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATCCAGGCTCGGCTACTTTG -3'
(R):5'- GGCTCAGCAAGTAATGACGAC -3'
Sequencing Primer
(F):5'- GGCTACTTTGATGAAATAGCCAGCC -3'
(R):5'- CGTAAGTTTCATCCTCAGTCTCC -3'
|
Posted On |
2015-02-05 |