Incidental Mutation 'R3935:Slc35f1'
| ID |
307135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc35f1
|
| Ensembl Gene |
ENSMUSG00000038602 |
| Gene Name |
solute carrier family 35, member F1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3935 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
52566629-52987718 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 52984314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 358
(T358I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101113
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105473]
|
| AlphaFold |
Q8BGK5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105473
AA Change: T358I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101113
Gene: ENSMUSG00000038602
AA Change: T358I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
Pfam:SLC35F
|
56 |
355 |
1.4e-151 |
PFAM |
|
Pfam:CRT-like
|
66 |
315 |
2.3e-13 |
PFAM |
|
Pfam:EamA
|
217 |
355 |
1.7e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218783
|
| Meta Mutation Damage Score |
0.3129 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no detectable phenotypic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arx |
T |
A |
X: 92,340,975 (GRCm39) |
L554Q |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,743,105 (GRCm39) |
V1622A |
possibly damaging |
Het |
| Bbof1 |
A |
G |
12: 84,457,984 (GRCm39) |
D83G |
probably damaging |
Het |
| Ccdc47 |
T |
C |
11: 106,092,823 (GRCm39) |
|
probably benign |
Het |
| Clstn3 |
G |
A |
6: 124,434,901 (GRCm39) |
T338I |
probably damaging |
Het |
| Dsc1 |
T |
A |
18: 20,230,298 (GRCm39) |
T336S |
probably benign |
Het |
| Elk3 |
A |
G |
10: 93,101,035 (GRCm39) |
S239P |
possibly damaging |
Het |
| Fbll1 |
T |
A |
11: 35,688,475 (GRCm39) |
I263F |
probably damaging |
Het |
| Fbxw8 |
T |
G |
5: 118,233,783 (GRCm39) |
I283L |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,774,824 (GRCm39) |
F133L |
probably benign |
Het |
| Gpr176 |
A |
G |
2: 118,109,777 (GRCm39) |
V494A |
probably benign |
Het |
| Gpr85 |
A |
G |
6: 13,836,044 (GRCm39) |
F287L |
probably benign |
Het |
| Hoxd11 |
A |
G |
2: 74,514,376 (GRCm39) |
N302S |
probably benign |
Het |
| Iqgap1 |
T |
G |
7: 80,393,585 (GRCm39) |
Y664S |
possibly damaging |
Het |
| Kansl1 |
A |
T |
11: 104,234,369 (GRCm39) |
D712E |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,321,617 (GRCm39) |
N1101D |
probably benign |
Het |
| Kyat1 |
A |
G |
2: 30,075,761 (GRCm39) |
L376P |
probably damaging |
Het |
| Lztr1 |
T |
A |
16: 17,340,059 (GRCm39) |
Y93* |
probably null |
Het |
| Nrip1 |
A |
G |
16: 76,091,323 (GRCm39) |
M78T |
possibly damaging |
Het |
| P4hb |
A |
C |
11: 120,453,235 (GRCm39) |
H440Q |
probably benign |
Het |
| Pbsn |
T |
C |
X: 76,891,702 (GRCm39) |
T32A |
probably damaging |
Het |
| Prg4 |
A |
G |
1: 150,333,908 (GRCm39) |
I152T |
possibly damaging |
Het |
| Prss36 |
A |
G |
7: 127,533,780 (GRCm39) |
L8P |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,177,150 (GRCm39) |
V2930A |
probably damaging |
Het |
| Ptchd4 |
G |
C |
17: 42,814,380 (GRCm39) |
L760F |
possibly damaging |
Het |
| Rbms3 |
A |
G |
9: 116,465,459 (GRCm39) |
L163P |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,158,120 (GRCm39) |
I418V |
probably damaging |
Het |
| Sf3a1 |
T |
A |
11: 4,130,024 (GRCm39) |
|
probably null |
Het |
| Sirpb1b |
T |
A |
3: 15,613,843 (GRCm39) |
T80S |
probably benign |
Het |
| Slc16a7 |
C |
A |
10: 125,066,712 (GRCm39) |
R309L |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,180,570 (GRCm39) |
E411G |
probably benign |
Het |
| Ssu72 |
C |
T |
4: 155,789,876 (GRCm39) |
S13L |
probably benign |
Het |
| Sult2b1 |
C |
T |
7: 45,391,640 (GRCm39) |
V49M |
probably benign |
Het |
| Tmem80 |
T |
C |
7: 140,913,938 (GRCm39) |
Y30H |
probably damaging |
Het |
|
| Other mutations in Slc35f1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Slc35f1
|
APN |
10 |
52,938,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01073:Slc35f1
|
APN |
10 |
52,898,056 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01433:Slc35f1
|
APN |
10 |
52,949,542 (GRCm39) |
splice site |
probably benign |
|
|
IGL01566:Slc35f1
|
APN |
10 |
52,965,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02693:Slc35f1
|
APN |
10 |
52,809,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02870:Slc35f1
|
APN |
10 |
52,809,303 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03082:Slc35f1
|
APN |
10 |
52,809,234 (GRCm39) |
missense |
probably benign |
|
|
R0884:Slc35f1
|
UTSW |
10 |
52,965,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1340:Slc35f1
|
UTSW |
10 |
52,965,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1781:Slc35f1
|
UTSW |
10 |
52,938,532 (GRCm39) |
splice site |
probably null |
|
|
R1813:Slc35f1
|
UTSW |
10 |
52,809,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1908:Slc35f1
|
UTSW |
10 |
52,898,000 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2044:Slc35f1
|
UTSW |
10 |
52,965,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2518:Slc35f1
|
UTSW |
10 |
52,949,630 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3872:Slc35f1
|
UTSW |
10 |
52,898,006 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3934:Slc35f1
|
UTSW |
10 |
52,984,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3936:Slc35f1
|
UTSW |
10 |
52,984,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4118:Slc35f1
|
UTSW |
10 |
52,965,464 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4921:Slc35f1
|
UTSW |
10 |
52,938,698 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5116:Slc35f1
|
UTSW |
10 |
52,897,991 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5378:Slc35f1
|
UTSW |
10 |
52,567,157 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5387:Slc35f1
|
UTSW |
10 |
52,984,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5500:Slc35f1
|
UTSW |
10 |
52,809,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5590:Slc35f1
|
UTSW |
10 |
52,984,274 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5743:Slc35f1
|
UTSW |
10 |
52,965,546 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5916:Slc35f1
|
UTSW |
10 |
52,809,317 (GRCm39) |
nonsense |
probably null |
|
|
R6985:Slc35f1
|
UTSW |
10 |
52,898,007 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7068:Slc35f1
|
UTSW |
10 |
52,938,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7295:Slc35f1
|
UTSW |
10 |
52,938,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7427:Slc35f1
|
UTSW |
10 |
52,965,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7428:Slc35f1
|
UTSW |
10 |
52,965,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8334:Slc35f1
|
UTSW |
10 |
52,984,244 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTTTCCATCAAGAGTATCAGCTAC -3'
(R):5'- AACACATGGCCTCTGAGTTGTC -3'
Sequencing Primer
(F):5'- GAGTATCAGCTACCTCATCAAATTGC -3'
(R):5'- GAGTTGTCCTCAGTGGGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation