Incidental Mutation 'R3936:Slc35f1'
| ID |
307176 |
| 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 # |
R3936 (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: 97.4%
- 20x: 95.3%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
C |
T |
12: 53,187,227 (GRCm39) |
T1547M |
possibly damaging |
Het |
| Alk |
T |
A |
17: 72,512,949 (GRCm39) |
I337F |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,715,819 (GRCm39) |
K491* |
probably null |
Het |
| Arx |
T |
A |
X: 92,340,975 (GRCm39) |
L554Q |
probably damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,159,209 (GRCm39) |
N203S |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,743,105 (GRCm39) |
V1622A |
possibly damaging |
Het |
| Btnl6 |
T |
A |
17: 34,736,316 (GRCm39) |
H4L |
probably benign |
Het |
| Dync2h1 |
C |
A |
9: 7,001,482 (GRCm39) |
L3835F |
probably damaging |
Het |
| Fcgbp |
T |
C |
7: 27,774,824 (GRCm39) |
F133L |
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,371,065 (GRCm39) |
|
probably null |
Het |
| G6pc1 |
A |
G |
11: 101,265,429 (GRCm39) |
I154V |
probably benign |
Het |
| Golgb1 |
G |
T |
16: 36,734,418 (GRCm39) |
E1222* |
probably null |
Het |
| Gpr85 |
A |
G |
6: 13,836,044 (GRCm39) |
F287L |
probably benign |
Het |
| Gzmk |
A |
T |
13: 113,309,559 (GRCm39) |
S164T |
probably damaging |
Het |
| Il22ra2 |
T |
A |
10: 19,507,456 (GRCm39) |
S156R |
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,234,369 (GRCm39) |
D712E |
possibly damaging |
Het |
| Mc3r |
T |
A |
2: 172,091,216 (GRCm39) |
I146N |
probably damaging |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mitf |
C |
T |
6: 97,970,214 (GRCm39) |
P54S |
probably damaging |
Het |
| Or13c7b |
T |
A |
4: 43,821,359 (GRCm39) |
M1L |
probably benign |
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 |
| Rptn |
A |
C |
3: 93,302,883 (GRCm39) |
H72P |
possibly 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 |
| Slc9c1 |
A |
G |
16: 45,427,193 (GRCm39) |
|
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,701,943 (GRCm39) |
V608D |
probably damaging |
Het |
| Sult2b1 |
C |
T |
7: 45,391,640 (GRCm39) |
V49M |
probably benign |
Het |
| Tlr11 |
A |
G |
14: 50,600,192 (GRCm39) |
E726G |
possibly damaging |
Het |
| Treh |
C |
T |
9: 44,595,840 (GRCm39) |
R342W |
probably benign |
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 |
|
R3935: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