Incidental Mutation 'IGL02610:Slc35f3'
| ID |
300435 |
| 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 # |
IGL02610
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
126865734-127122717 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 127047956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 99
(T99S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108759]
|
| AlphaFold |
Q1LZI2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108759
AA Change: T99S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104390
Gene: ENSMUSG00000057060
AA Change: T99S
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Ccdc93 |
T |
G |
1: 121,420,700 (GRCm39) |
V527G |
probably benign |
Het |
| Ctcfl |
C |
A |
2: 172,947,819 (GRCm39) |
|
probably benign |
Het |
| Dmd |
T |
C |
X: 82,707,762 (GRCm39) |
S359P |
probably damaging |
Het |
| Drc3 |
T |
C |
11: 60,261,419 (GRCm39) |
F190S |
probably benign |
Het |
| Dync1h1 |
A |
T |
12: 110,625,666 (GRCm39) |
K3943* |
probably null |
Het |
| Dzip3 |
A |
G |
16: 48,772,016 (GRCm39) |
V551A |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,485,723 (GRCm39) |
L237M |
unknown |
Het |
| Gab1 |
A |
G |
8: 81,526,728 (GRCm39) |
|
probably null |
Het |
| Gm6430 |
G |
A |
1: 96,952,560 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv16-1 |
A |
T |
12: 114,032,733 (GRCm39) |
V23E |
probably damaging |
Het |
| Ikbkb |
T |
A |
8: 23,165,088 (GRCm39) |
|
probably null |
Het |
| Ncr1 |
A |
T |
7: 4,341,132 (GRCm39) |
N41I |
probably benign |
Het |
| Nfkbib |
T |
C |
7: 28,459,274 (GRCm39) |
D319G |
probably damaging |
Het |
| Nkain3 |
T |
C |
4: 20,469,459 (GRCm39) |
E85G |
probably damaging |
Het |
| Or51h1 |
G |
A |
7: 102,308,774 (GRCm39) |
V249M |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Ppp2r2b |
A |
G |
18: 42,781,840 (GRCm39) |
|
probably benign |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Rhod |
A |
G |
19: 4,476,203 (GRCm39) |
F183L |
probably damaging |
Het |
| Spata31e4 |
T |
C |
13: 50,855,748 (GRCm39) |
V462A |
possibly damaging |
Het |
| Spock3 |
A |
G |
8: 63,798,771 (GRCm39) |
Y264C |
probably damaging |
Het |
| Trnt1 |
T |
C |
6: 106,755,779 (GRCm39) |
F278S |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,176,663 (GRCm39) |
Y1276N |
probably damaging |
Het |
| Veph1 |
A |
G |
3: 66,079,588 (GRCm39) |
L309P |
probably damaging |
Het |
| Vmn1r7 |
G |
T |
6: 57,002,037 (GRCm39) |
F74L |
probably benign |
Het |
| Vsnl1 |
C |
T |
12: 11,382,072 (GRCm39) |
W103* |
probably null |
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 |
|
IGL01105:Slc35f3
|
APN |
8 |
127,025,553 (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 |
|
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 |
2015-04-16 |
Incidental Mutation