Incidental Mutation 'IGL02586:Slc35f5'
| ID |
299549 |
| 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 # |
IGL02586
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
125488332-125523557 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 125512273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 358
(L358V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027580]
|
| AlphaFold |
Q8R314 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027580
AA Change: L358V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027580
Gene: ENSMUSG00000026342
AA Change: L358V
| 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: L8V
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,243,983 (GRCm39) |
I1949V |
possibly damaging |
Het |
| Anapc2 |
T |
A |
2: 25,175,108 (GRCm39) |
M742K |
probably benign |
Het |
| Arhgef12 |
T |
A |
9: 42,917,200 (GRCm39) |
K380* |
probably null |
Het |
| Armc1 |
G |
T |
3: 19,188,192 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
G |
A |
3: 37,098,757 (GRCm39) |
W4626* |
probably null |
Het |
| Diaph3 |
A |
T |
14: 87,223,512 (GRCm39) |
L323* |
probably null |
Het |
| Fbxo11 |
C |
T |
17: 88,318,711 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
C |
T |
17: 23,974,676 (GRCm39) |
A655T |
probably benign |
Het |
| Frmpd1 |
A |
G |
4: 45,285,160 (GRCm39) |
D1327G |
probably damaging |
Het |
| Ggact |
G |
A |
14: 123,128,942 (GRCm39) |
T91I |
possibly damaging |
Het |
| Gm10250 |
T |
A |
15: 5,150,412 (GRCm39) |
|
probably benign |
Het |
| Gsdmc4 |
T |
C |
15: 63,765,641 (GRCm39) |
S303G |
probably damaging |
Het |
| Helt |
T |
C |
8: 46,746,276 (GRCm39) |
E15G |
probably damaging |
Het |
| Kcnf1 |
T |
A |
12: 17,226,144 (GRCm39) |
S26C |
probably benign |
Het |
| Lilra6 |
T |
C |
7: 3,911,819 (GRCm39) |
T280A |
probably benign |
Het |
| Lipo3 |
A |
T |
19: 33,559,539 (GRCm39) |
D110E |
possibly damaging |
Het |
| Mepe |
C |
A |
5: 104,485,316 (GRCm39) |
T152N |
probably benign |
Het |
| Nr2f1 |
C |
A |
13: 78,343,275 (GRCm39) |
|
probably benign |
Het |
| Or5ak24 |
T |
C |
2: 85,260,810 (GRCm39) |
D121G |
possibly damaging |
Het |
| Or6c214 |
A |
G |
10: 129,590,524 (GRCm39) |
I265T |
possibly damaging |
Het |
| Peg3 |
T |
C |
7: 6,713,068 (GRCm39) |
D718G |
probably benign |
Het |
| Phf2 |
A |
T |
13: 48,967,334 (GRCm39) |
|
probably benign |
Het |
| Pigc |
A |
T |
1: 161,798,503 (GRCm39) |
I162F |
probably benign |
Het |
| Raf1 |
A |
G |
6: 115,597,267 (GRCm39) |
L11P |
probably damaging |
Het |
| Rlf |
T |
C |
4: 121,007,261 (GRCm39) |
Y573C |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rnf149 |
T |
G |
1: 39,604,296 (GRCm39) |
Q189P |
probably benign |
Het |
| Slc11a1 |
T |
C |
1: 74,424,291 (GRCm39) |
|
probably benign |
Het |
| Slc22a12 |
C |
T |
19: 6,590,487 (GRCm39) |
M234I |
probably benign |
Het |
| Slc28a1 |
A |
T |
7: 80,814,167 (GRCm39) |
I455F |
probably benign |
Het |
| Slc47a1 |
A |
T |
11: 61,235,147 (GRCm39) |
V562D |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ushbp1 |
T |
C |
8: 71,841,394 (GRCm39) |
|
probably benign |
Het |
| Vmn1r88 |
T |
A |
7: 12,911,735 (GRCm39) |
Y30* |
probably null |
Het |
| Vmn2r27 |
A |
T |
6: 124,201,434 (GRCm39) |
Y174* |
probably null |
Het |
| Wwox |
T |
C |
8: 115,438,947 (GRCm39) |
Y338H |
possibly damaging |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zup1 |
A |
T |
10: 33,811,261 (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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation