Incidental Mutation 'IGL01105:Slc35f3'
ID |
51773 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc35f3
|
Ensembl Gene |
ENSMUSG00000057060 |
Gene Name |
solute carrier family 35, member F3 |
Synonyms |
B230375D17Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.160)
|
Stock # |
IGL01105
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
126865734-127122717 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 127025553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 10
(P10Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104390
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108759]
|
AlphaFold |
Q1LZI2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108759
AA Change: P10Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104390 Gene: ENSMUSG00000057060 AA Change: P10Q
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
49 |
N/A |
INTRINSIC |
Pfam:EamA
|
67 |
223 |
3.2e-7 |
PFAM |
Pfam:SLC35F
|
145 |
374 |
3.2e-6 |
PFAM |
|
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 |
Ace |
T |
A |
11: 105,862,885 (GRCm39) |
V302E |
probably damaging |
Het |
Ahcy |
T |
C |
2: 154,909,281 (GRCm39) |
D86G |
probably benign |
Het |
Antxr2 |
G |
T |
5: 98,152,802 (GRCm39) |
|
probably benign |
Het |
Cadps2 |
A |
G |
6: 23,321,699 (GRCm39) |
|
probably benign |
Het |
Cdhr4 |
C |
T |
9: 107,873,060 (GRCm39) |
|
probably benign |
Het |
Cdkn2c |
C |
T |
4: 109,518,823 (GRCm39) |
V44I |
probably damaging |
Het |
Chodl |
T |
C |
16: 78,738,151 (GRCm39) |
Y40H |
probably damaging |
Het |
Heatr3 |
A |
G |
8: 88,888,521 (GRCm39) |
D391G |
probably benign |
Het |
Hephl1 |
T |
C |
9: 15,000,320 (GRCm39) |
T311A |
possibly damaging |
Het |
Itpr1 |
G |
A |
6: 108,358,294 (GRCm39) |
S620N |
probably benign |
Het |
Kank1 |
T |
A |
19: 25,401,680 (GRCm39) |
S1096T |
possibly damaging |
Het |
Kank3 |
G |
A |
17: 34,036,375 (GRCm39) |
G81E |
probably damaging |
Het |
Krtap9-5 |
A |
G |
11: 99,839,459 (GRCm39) |
I53M |
unknown |
Het |
Limk2 |
G |
A |
11: 3,305,475 (GRCm39) |
|
probably benign |
Het |
Lrig2 |
G |
A |
3: 104,371,484 (GRCm39) |
R382* |
probably null |
Het |
Mamdc2 |
T |
A |
19: 23,308,366 (GRCm39) |
D512V |
probably benign |
Het |
Marchf1 |
A |
T |
8: 66,871,529 (GRCm39) |
T353S |
possibly damaging |
Het |
Mrc2 |
A |
G |
11: 105,219,567 (GRCm39) |
D312G |
probably damaging |
Het |
Myh9 |
C |
T |
15: 77,665,678 (GRCm39) |
M627I |
probably benign |
Het |
Nipa2 |
A |
T |
7: 55,583,193 (GRCm39) |
I184N |
probably damaging |
Het |
Npy1r |
A |
G |
8: 67,157,428 (GRCm39) |
K246R |
probably benign |
Het |
Pank4 |
C |
T |
4: 155,056,922 (GRCm39) |
|
probably benign |
Het |
Pcdh12 |
T |
A |
18: 38,408,400 (GRCm39) |
E1035D |
probably damaging |
Het |
Pias2 |
T |
A |
18: 77,220,852 (GRCm39) |
D362E |
probably damaging |
Het |
Pkd1l3 |
G |
T |
8: 110,388,873 (GRCm39) |
V1872L |
possibly damaging |
Het |
Postn |
T |
G |
3: 54,270,131 (GRCm39) |
I70S |
probably damaging |
Het |
Ppef2 |
A |
G |
5: 92,397,055 (GRCm39) |
S107P |
possibly damaging |
Het |
Prl3c1 |
T |
C |
13: 27,386,408 (GRCm39) |
V131A |
probably benign |
Het |
Qsox2 |
A |
G |
2: 26,099,697 (GRCm39) |
V609A |
probably benign |
Het |
Rhebl1 |
C |
A |
15: 98,776,379 (GRCm39) |
E139D |
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,582,150 (GRCm39) |
S2848P |
probably damaging |
Het |
Scd2 |
T |
A |
19: 44,286,497 (GRCm39) |
I109N |
probably benign |
Het |
Sim1 |
A |
G |
10: 50,857,630 (GRCm39) |
H460R |
probably damaging |
Het |
Slf1 |
T |
C |
13: 77,249,031 (GRCm39) |
|
probably benign |
Het |
Stk10 |
G |
T |
11: 32,527,740 (GRCm39) |
V163L |
probably benign |
Het |
Tssk6 |
A |
G |
8: 70,355,462 (GRCm39) |
T169A |
probably benign |
Het |
Usp28 |
T |
A |
9: 48,921,550 (GRCm39) |
V256E |
probably damaging |
Het |
Vmn2r77 |
A |
T |
7: 86,460,872 (GRCm39) |
I733F |
probably damaging |
Het |
|
Other mutations in Slc35f3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00687:Slc35f3
|
APN |
8 |
127,108,903 (GRCm39) |
missense |
probably benign |
0.02 |
IGL00956:Slc35f3
|
APN |
8 |
127,108,963 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01710:Slc35f3
|
APN |
8 |
127,115,900 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01771:Slc35f3
|
APN |
8 |
127,115,951 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02254:Slc35f3
|
APN |
8 |
127,115,862 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02610:Slc35f3
|
APN |
8 |
127,047,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R1666:Slc35f3
|
UTSW |
8 |
127,115,960 (GRCm39) |
missense |
probably damaging |
0.98 |
R2510:Slc35f3
|
UTSW |
8 |
127,025,445 (GRCm39) |
start gained |
probably benign |
|
R2520:Slc35f3
|
UTSW |
8 |
127,121,312 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3807:Slc35f3
|
UTSW |
8 |
127,115,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R4644:Slc35f3
|
UTSW |
8 |
127,047,809 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4675:Slc35f3
|
UTSW |
8 |
127,047,935 (GRCm39) |
nonsense |
probably null |
|
R4976:Slc35f3
|
UTSW |
8 |
127,116,020 (GRCm39) |
splice site |
probably null |
|
R5037:Slc35f3
|
UTSW |
8 |
127,116,011 (GRCm39) |
missense |
probably damaging |
0.99 |
R5225:Slc35f3
|
UTSW |
8 |
127,117,846 (GRCm39) |
missense |
probably damaging |
0.98 |
R5259:Slc35f3
|
UTSW |
8 |
127,115,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R5856:Slc35f3
|
UTSW |
8 |
127,047,819 (GRCm39) |
missense |
probably benign |
0.07 |
R5925:Slc35f3
|
UTSW |
8 |
127,115,946 (GRCm39) |
missense |
probably benign |
0.24 |
R6254:Slc35f3
|
UTSW |
8 |
127,047,833 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6748:Slc35f3
|
UTSW |
8 |
127,121,377 (GRCm39) |
nonsense |
probably null |
|
R6785:Slc35f3
|
UTSW |
8 |
127,121,198 (GRCm39) |
missense |
probably benign |
0.02 |
R7002:Slc35f3
|
UTSW |
8 |
127,115,773 (GRCm39) |
critical splice acceptor site |
unknown |
|
R7291:Slc35f3
|
UTSW |
8 |
127,121,297 (GRCm39) |
missense |
probably benign |
0.02 |
R7411:Slc35f3
|
UTSW |
8 |
127,115,777 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R7456:Slc35f3
|
UTSW |
8 |
127,115,779 (GRCm39) |
critical splice acceptor site |
unknown |
|
R7790:Slc35f3
|
UTSW |
8 |
127,115,777 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R7852:Slc35f3
|
UTSW |
8 |
127,121,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R8000:Slc35f3
|
UTSW |
8 |
127,047,812 (GRCm39) |
missense |
probably benign |
|
R8277:Slc35f3
|
UTSW |
8 |
127,115,925 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8827:Slc35f3
|
UTSW |
8 |
127,115,780 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R8983:Slc35f3
|
UTSW |
8 |
127,115,775 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R9205:Slc35f3
|
UTSW |
8 |
127,115,928 (GRCm39) |
missense |
probably damaging |
0.96 |
R9355:Slc35f3
|
UTSW |
8 |
127,108,967 (GRCm39) |
missense |
probably damaging |
0.97 |
R9475:Slc35f3
|
UTSW |
8 |
127,108,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R9492:Slc35f3
|
UTSW |
8 |
127,048,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R9714:Slc35f3
|
UTSW |
8 |
127,115,781 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R9729:Slc35f3
|
UTSW |
8 |
127,115,777 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R9769:Slc35f3
|
UTSW |
8 |
127,121,336 (GRCm39) |
missense |
probably damaging |
0.99 |
X0067:Slc35f3
|
UTSW |
8 |
127,109,062 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-06-21 |