Incidental Mutation 'R8277:Slc35f3'
| ID |
638032 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc35f3
|
| Ensembl Gene |
ENSMUSG00000057060 |
| Gene Name |
solute carrier family 35, member F3 |
| Synonyms |
B230375D17Rik |
| MMRRC Submission |
067700-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R8277 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
126865734-127122717 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 127115925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 284
(V284D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108759]
|
| AlphaFold |
Q1LZI2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108759
AA Change: V284D
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104390
Gene: ENSMUSG00000057060
AA Change: V284D
| 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 |
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
A |
19: 57,204,351 (GRCm39) |
L13F |
probably benign |
Het |
| Apoe |
C |
T |
7: 19,432,303 (GRCm39) |
|
probably benign |
Het |
| Arap2 |
A |
G |
5: 62,771,335 (GRCm39) |
|
probably null |
Het |
| Aspm |
T |
C |
1: 139,382,748 (GRCm39) |
S27P |
probably damaging |
Het |
| Atcay |
C |
A |
10: 81,050,646 (GRCm39) |
D90Y |
probably damaging |
Het |
| Cd46 |
A |
T |
1: 194,747,030 (GRCm39) |
D327E |
probably damaging |
Het |
| Cfh |
A |
G |
1: 140,029,347 (GRCm39) |
W1001R |
probably damaging |
Het |
| Chrm2 |
G |
A |
6: 36,500,211 (GRCm39) |
V23M |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,516,410 (GRCm39) |
G175R |
probably null |
Het |
| Ddx52 |
T |
C |
11: 83,845,940 (GRCm39) |
S422P |
probably damaging |
Het |
| Dync2i2 |
A |
G |
2: 29,923,886 (GRCm39) |
V213A |
probably benign |
Het |
| Entr1 |
G |
A |
2: 26,274,778 (GRCm39) |
A373V |
probably damaging |
Het |
| Gucy2d |
T |
A |
7: 98,092,682 (GRCm39) |
W20R |
probably benign |
Het |
| Hao2 |
A |
G |
3: 98,787,700 (GRCm39) |
I243T |
probably damaging |
Het |
| Hmcn2 |
A |
C |
2: 31,259,189 (GRCm39) |
T1010P |
probably benign |
Het |
| Iqcf1 |
T |
C |
9: 106,379,077 (GRCm39) |
S29P |
probably benign |
Het |
| Kat2b |
T |
A |
17: 53,948,281 (GRCm39) |
D350E |
probably benign |
Het |
| Lingo4 |
A |
G |
3: 94,309,931 (GRCm39) |
S290G |
possibly damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,954,220 (GRCm39) |
T834A |
probably benign |
Het |
| Mro |
A |
T |
18: 73,997,132 (GRCm39) |
|
probably benign |
Het |
| Mrps26 |
T |
A |
2: 130,406,347 (GRCm39) |
L160Q |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,183,735 (GRCm39) |
I788T |
probably benign |
Het |
| Nab2 |
G |
A |
10: 127,501,168 (GRCm39) |
|
probably benign |
Het |
| Nr2c2ap |
C |
T |
8: 70,585,131 (GRCm39) |
Q67* |
probably null |
Het |
| Or1p1b |
C |
T |
11: 74,130,842 (GRCm39) |
L151F |
probably benign |
Het |
| Pask |
C |
T |
1: 93,253,085 (GRCm39) |
|
probably null |
Het |
| Pcnx2 |
A |
T |
8: 126,592,755 (GRCm39) |
S736R |
probably damaging |
Het |
| Per2 |
G |
T |
1: 91,348,274 (GRCm39) |
D1109E |
probably benign |
Het |
| Plxna1 |
G |
A |
6: 89,334,162 (GRCm39) |
H156Y |
probably damaging |
Het |
| Polr2a |
G |
A |
11: 69,638,882 (GRCm39) |
R51C |
probably damaging |
Het |
| Rbpms2 |
T |
A |
9: 65,556,695 (GRCm39) |
F45Y |
probably damaging |
Het |
| Rmdn3 |
T |
C |
2: 118,976,905 (GRCm39) |
D276G |
probably damaging |
Het |
| Septin2 |
T |
A |
1: 93,427,030 (GRCm39) |
I171K |
probably benign |
Het |
| Serpinb3a |
C |
A |
1: 106,973,970 (GRCm39) |
G314C |
probably damaging |
Het |
| Snapc4 |
A |
G |
2: 26,255,722 (GRCm39) |
V934A |
probably benign |
Het |
| Tctn1 |
A |
G |
5: 122,402,431 (GRCm39) |
M1T |
probably null |
Het |
| Tgoln1 |
G |
A |
6: 72,593,838 (GRCm39) |
|
probably benign |
Het |
| Unc5c |
G |
A |
3: 141,474,373 (GRCm39) |
|
probably null |
Het |
| Vmn2r11 |
A |
T |
5: 109,202,833 (GRCm39) |
F81L |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,440,970 (GRCm39) |
V296E |
probably benign |
Het |
| Vmn2r15 |
C |
T |
5: 109,441,310 (GRCm39) |
D183N |
probably damaging |
Het |
| Zfp763 |
T |
C |
17: 33,252,294 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGATCTGGGTTTATCCTCACG -3'
(R):5'- TGTTCTTTTAAGAAGTCGCAAGGAC -3'
Sequencing Primer
(F):5'- GGGTTTATCCTCACGGCCTTC -3'
(R):5'- TCGCAAGGACTTTGAAAAAGAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation