Incidental Mutation 'IGL01844:Slc35f5'
| ID |
178134 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01844
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
125488332-125523557 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 125517612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 470
(T470I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027580]
|
| AlphaFold |
Q8R314 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027580
AA Change: T470I
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000027580
Gene: ENSMUSG00000026342
AA Change: T470I
| 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 |
possibly damaging
Transcript: ENSMUST00000189443
AA Change: L111F
PolyPhen 2
Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
A |
G |
17: 84,989,453 (GRCm39) |
I85T |
probably damaging |
Het |
| Amer2 |
A |
G |
14: 60,617,356 (GRCm39) |
D391G |
possibly damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,180,781 (GRCm39) |
C83S |
probably benign |
Het |
| Bdh2 |
A |
T |
3: 134,994,080 (GRCm39) |
Q54L |
probably benign |
Het |
| Cep128 |
A |
G |
12: 90,975,628 (GRCm39) |
S1051P |
probably benign |
Het |
| Dop1a |
A |
G |
9: 86,396,138 (GRCm39) |
T865A |
probably damaging |
Het |
| Epha8 |
C |
A |
4: 136,658,360 (GRCm39) |
*1005L |
probably null |
Het |
| Etl4 |
T |
C |
2: 20,811,493 (GRCm39) |
V1509A |
probably benign |
Het |
| Gucy1b1 |
T |
C |
3: 81,953,833 (GRCm39) |
E161G |
possibly damaging |
Het |
| Hepacam |
T |
A |
9: 37,291,912 (GRCm39) |
V80E |
probably damaging |
Het |
| Ireb2 |
A |
G |
9: 54,772,641 (GRCm39) |
K24E |
probably benign |
Het |
| Itch |
T |
A |
2: 155,014,467 (GRCm39) |
D101E |
possibly damaging |
Het |
| Itch |
T |
A |
2: 155,014,406 (GRCm39) |
F81Y |
possibly damaging |
Het |
| Kctd16 |
A |
G |
18: 40,390,373 (GRCm39) |
I115M |
probably damaging |
Het |
| Klf7 |
C |
A |
1: 64,117,933 (GRCm39) |
Q221H |
probably benign |
Het |
| Kptn |
A |
G |
7: 15,857,897 (GRCm39) |
T242A |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,334,485 (GRCm39) |
F4420S |
probably benign |
Het |
| Mthfd2 |
A |
G |
6: 83,288,792 (GRCm39) |
|
probably null |
Het |
| Mtrf1l |
A |
C |
10: 5,764,112 (GRCm39) |
L284V |
probably null |
Het |
| Neb |
C |
T |
2: 52,060,561 (GRCm39) |
V2259I |
probably benign |
Het |
| Or4c111 |
A |
T |
2: 88,843,814 (GRCm39) |
V198E |
possibly damaging |
Het |
| Or9i14 |
A |
T |
19: 13,792,180 (GRCm39) |
M258K |
possibly damaging |
Het |
| Padi1 |
A |
T |
4: 140,556,746 (GRCm39) |
C154S |
probably damaging |
Het |
| Paxip1 |
T |
C |
5: 27,956,036 (GRCm39) |
T903A |
probably benign |
Het |
| Phactr2 |
T |
A |
10: 13,129,181 (GRCm39) |
L292F |
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,362,796 (GRCm39) |
|
probably benign |
Het |
| Pnpla7 |
T |
C |
2: 24,940,985 (GRCm39) |
|
probably null |
Het |
| Rif1 |
T |
A |
2: 52,002,555 (GRCm39) |
I2003K |
probably benign |
Het |
| Rxfp3 |
A |
T |
15: 11,037,132 (GRCm39) |
V80E |
probably damaging |
Het |
| Sart3 |
T |
A |
5: 113,883,709 (GRCm39) |
K768* |
probably null |
Het |
| Smg8 |
A |
T |
11: 86,971,102 (GRCm39) |
Y890N |
probably damaging |
Het |
| Spata31 |
T |
C |
13: 65,068,968 (GRCm39) |
V372A |
possibly damaging |
Het |
| Tbc1d30 |
A |
T |
10: 121,103,084 (GRCm39) |
D649E |
probably benign |
Het |
| Tctn3 |
G |
A |
19: 40,600,581 (GRCm39) |
T3I |
probably damaging |
Het |
| Tns3 |
G |
A |
11: 8,387,177 (GRCm39) |
P1337S |
possibly damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,434,135 (GRCm39) |
*856C |
probably null |
Het |
| Vmn2r61 |
A |
T |
7: 41,909,639 (GRCm39) |
I55F |
probably benign |
Het |
| Zbtb41 |
C |
T |
1: 139,375,065 (GRCm39) |
P842S |
probably benign |
Het |
| Zc3h13 |
A |
G |
14: 75,581,209 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation