Incidental Mutation 'IGL02984:Slc35f5'
ID |
453253 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc35f5
|
Ensembl Gene |
ENSMUSG00000026342 |
Gene Name |
solute carrier family 35, member F5 |
Synonyms |
1300003P13Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.177)
|
Stock # |
IGL02984 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
125488332-125523557 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 125490250 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 71
(Y71N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139639
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027580]
[ENSMUST00000190037]
|
AlphaFold |
Q8R314 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027580
AA Change: Y49N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000027580 Gene: ENSMUSG00000026342 AA Change: Y49N
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
AA Change: Y71N
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000139639 Gene: ENSMUSG00000026342 AA Change: Y71N
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
T |
A |
5: 88,120,662 (GRCm39) |
I473N |
probably damaging |
Het |
4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
A530064D06Rik |
T |
C |
17: 48,470,448 (GRCm39) |
I178V |
probably benign |
Het |
Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
Aldh1l2 |
G |
A |
10: 83,363,199 (GRCm39) |
P55S |
probably damaging |
Het |
Bglap3 |
T |
C |
3: 88,276,098 (GRCm39) |
T85A |
possibly damaging |
Het |
Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
Csrnp3 |
A |
G |
2: 65,852,553 (GRCm39) |
D315G |
probably benign |
Het |
Dclk3 |
T |
C |
9: 111,317,643 (GRCm39) |
Y760H |
probably damaging |
Het |
Eef1akmt2 |
A |
G |
7: 132,438,935 (GRCm39) |
*52R |
probably null |
Het |
Epc2 |
A |
G |
2: 49,418,866 (GRCm39) |
K225E |
probably damaging |
Het |
Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
Foxi2 |
C |
T |
7: 135,012,127 (GRCm39) |
T5M |
possibly damaging |
Het |
Frmd4b |
T |
A |
6: 97,273,221 (GRCm39) |
T670S |
probably damaging |
Het |
Gm14137 |
G |
T |
2: 119,005,961 (GRCm39) |
E173D |
probably damaging |
Het |
Kif12 |
GGGGC |
GGGGCCTCCACCCGGCGGGC |
4: 63,089,660 (GRCm39) |
|
probably benign |
Het |
Mfsd4b3-ps |
G |
A |
10: 39,823,184 (GRCm39) |
|
probably benign |
Het |
Mlst8 |
A |
G |
17: 24,695,127 (GRCm39) |
F252S |
probably damaging |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Mogs |
A |
G |
6: 83,094,296 (GRCm39) |
K371R |
probably benign |
Het |
Nsun2 |
T |
C |
13: 69,691,727 (GRCm39) |
|
probably benign |
Het |
Otog |
T |
A |
7: 45,954,932 (GRCm39) |
C2702S |
probably damaging |
Het |
Plekhg4 |
A |
G |
8: 106,107,020 (GRCm39) |
E905G |
probably damaging |
Het |
Rtn4rl1 |
T |
C |
11: 75,156,087 (GRCm39) |
V173A |
probably benign |
Het |
Sall3 |
T |
C |
18: 81,016,665 (GRCm39) |
E421G |
probably benign |
Het |
Setd6 |
G |
A |
8: 96,442,903 (GRCm39) |
|
probably null |
Het |
Sh3tc1 |
T |
C |
5: 35,871,403 (GRCm39) |
|
probably null |
Het |
Snx1 |
A |
G |
9: 65,996,390 (GRCm39) |
|
probably benign |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Sspo |
T |
C |
6: 48,472,089 (GRCm39) |
V792A |
probably benign |
Het |
Sufu |
C |
A |
19: 46,462,038 (GRCm39) |
D350E |
probably benign |
Het |
Trav18 |
C |
A |
14: 54,069,026 (GRCm39) |
Q23K |
probably damaging |
Het |
Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
Usp17le |
T |
A |
7: 104,418,311 (GRCm39) |
H277L |
probably benign |
Het |
Wdsub1 |
A |
G |
2: 59,707,173 (GRCm39) |
S20P |
probably damaging |
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 |
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 |
R3024:Slc35f5
|
UTSW |
1 |
125,496,335 (GRCm39) |
missense |
probably benign |
0.00 |
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'- TACCTCCATTTGGACTGGGC -3'
(R):5'- GGTCCATGTTAATTCTATCACAGTGC -3'
Sequencing Primer
(F):5'- CATTTGAGGATCTCAGAGAAGCCC -3'
(R):5'- TCACAGTGCAACATCATTGGTGG -3'
|
Posted On |
2017-02-01 |