Incidental Mutation 'IGL00662:Slc35f5'
ID |
14089 |
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 # |
IGL00662
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
125488332-125523557 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 125515161 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 438
(L438H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027580
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027580]
|
AlphaFold |
Q8R314 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027580
AA Change: L438H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027580 Gene: ENSMUSG00000026342 AA Change: L438H
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 |
unknown
Transcript: ENSMUST00000189443
AA Change: L88H
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg16l2 |
T |
C |
7: 100,939,103 (GRCm39) |
N587S |
probably benign |
Het |
Bcar3 |
C |
T |
3: 122,306,585 (GRCm39) |
A186V |
probably benign |
Het |
Bcr |
A |
T |
10: 75,003,932 (GRCm39) |
|
probably benign |
Het |
Cd207 |
A |
G |
6: 83,652,908 (GRCm39) |
I74T |
possibly damaging |
Het |
Cenpn |
T |
C |
8: 117,655,326 (GRCm39) |
|
probably null |
Het |
Chuk |
A |
T |
19: 44,085,649 (GRCm39) |
F228I |
possibly damaging |
Het |
Cmss1 |
T |
C |
16: 57,124,092 (GRCm39) |
D233G |
probably damaging |
Het |
Copg1 |
C |
T |
6: 87,879,352 (GRCm39) |
T466I |
possibly damaging |
Het |
Ctsll3 |
A |
G |
13: 60,946,756 (GRCm39) |
S288P |
probably benign |
Het |
Fat3 |
T |
A |
9: 15,907,723 (GRCm39) |
I2760F |
possibly damaging |
Het |
Gpi1 |
A |
G |
7: 33,915,375 (GRCm39) |
|
probably benign |
Het |
Il18rap |
C |
T |
1: 40,581,081 (GRCm39) |
R318C |
probably benign |
Het |
Kcnk9 |
A |
G |
15: 72,417,924 (GRCm39) |
S69P |
probably benign |
Het |
Kctd18 |
T |
C |
1: 57,995,897 (GRCm39) |
T127A |
probably damaging |
Het |
Khk |
T |
C |
5: 31,087,019 (GRCm39) |
|
probably benign |
Het |
Ncapg |
T |
A |
5: 45,850,502 (GRCm39) |
S703T |
possibly damaging |
Het |
Nup98 |
T |
A |
7: 101,844,194 (GRCm39) |
N47I |
probably damaging |
Het |
Rad1 |
A |
G |
15: 10,490,495 (GRCm39) |
N154S |
probably benign |
Het |
Rigi |
A |
G |
4: 40,220,389 (GRCm39) |
|
probably benign |
Het |
Slc7a2 |
A |
G |
8: 41,358,659 (GRCm39) |
Y334C |
possibly damaging |
Het |
Spata17 |
T |
C |
1: 186,849,536 (GRCm39) |
N124S |
probably benign |
Het |
Tfap2c |
T |
C |
2: 172,393,438 (GRCm39) |
Y118H |
probably damaging |
Het |
Tnpo3 |
A |
T |
6: 29,565,845 (GRCm39) |
L503* |
probably null |
Het |
Utrn |
C |
T |
10: 12,540,705 (GRCm39) |
E1907K |
probably damaging |
Het |
Vav3 |
T |
A |
3: 109,435,708 (GRCm39) |
|
probably benign |
Het |
Vps13a |
T |
A |
19: 16,681,904 (GRCm39) |
K1033I |
probably damaging |
Het |
Zfp202 |
A |
G |
9: 40,122,339 (GRCm39) |
N367S |
probably benign |
Het |
|
Other mutations in Slc35f5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-12-06 |