Incidental Mutation 'R9769:Slc35f3'
| ID |
733397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc35f3
|
| Ensembl Gene |
ENSMUSG00000057060 |
| Gene Name |
solute carrier family 35, member F3 |
| Synonyms |
B230375D17Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R9769 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
126865734-127122717 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127121336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 399
(E399G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108759]
|
| AlphaFold |
Q1LZI2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108759
AA Change: E399G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104390
Gene: ENSMUSG00000057060
AA Change: E399G
| 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 |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
A |
T |
15: 94,251,459 (GRCm39) |
C443S |
probably damaging |
Het |
| Anpep |
A |
G |
7: 79,488,478 (GRCm39) |
S451P |
probably damaging |
Het |
| Atp13a5 |
T |
A |
16: 29,167,513 (GRCm39) |
K146* |
probably null |
Het |
| Atxn2l |
A |
T |
7: 126,095,692 (GRCm39) |
I481N |
probably benign |
Het |
| Cacna1i |
A |
T |
15: 80,253,793 (GRCm39) |
I677F |
probably damaging |
Het |
| Ccnb1 |
T |
C |
13: 100,917,393 (GRCm39) |
Y322C |
probably damaging |
Het |
| Cenpk |
C |
T |
13: 104,381,810 (GRCm39) |
Q245* |
probably null |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Kel |
C |
T |
6: 41,678,990 (GRCm39) |
G158R |
probably damaging |
Het |
| Klhl28 |
A |
G |
12: 64,998,330 (GRCm39) |
V388A |
probably benign |
Het |
| Macc1 |
A |
G |
12: 119,407,241 (GRCm39) |
K33E |
probably benign |
Het |
| Mup15 |
T |
A |
4: 61,356,528 (GRCm39) |
D79V |
possibly damaging |
Het |
| Nbeal2 |
C |
A |
9: 110,455,347 (GRCm39) |
V2549L |
probably benign |
Het |
| Ogfod3 |
T |
C |
11: 121,074,357 (GRCm39) |
T231A |
probably damaging |
Het |
| Or2t35 |
C |
T |
14: 14,407,929 (GRCm38) |
R234W |
probably damaging |
Het |
| Or56b35 |
A |
G |
7: 104,963,933 (GRCm39) |
K241E |
probably damaging |
Het |
| Pramel1 |
T |
C |
4: 143,125,110 (GRCm39) |
S345P |
possibly damaging |
Het |
| Sdr16c6 |
T |
A |
4: 4,076,893 (GRCm39) |
N2I |
probably benign |
Het |
| Slc10a4 |
A |
G |
5: 73,164,423 (GRCm39) |
D5G |
unknown |
Het |
| Trim43b |
G |
A |
9: 88,967,458 (GRCm39) |
H393Y |
possibly damaging |
Het |
| Vmn1r88 |
A |
G |
7: 12,912,280 (GRCm39) |
H212R |
probably damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,005,443 (GRCm39) |
Y360C |
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 |
|
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 |
|
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 |
|
|
X0067:Slc35f3
|
UTSW |
8 |
127,109,062 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCACAGTGGTCGATCACTAC -3'
(R):5'- GCAAGCAAATTGGACATGCC -3'
Sequencing Primer
(F):5'- GTGGTCGATCACTACACCAGTCAG -3'
(R):5'- TACCGTAGAACTTACTGCAGTTACC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation