Incidental Mutation 'IGL01942:Slc35f4'
ID |
180901 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc35f4
|
Ensembl Gene |
ENSMUSG00000021852 |
Gene Name |
solute carrier family 35, member F4 |
Synonyms |
4930550L21Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.178)
|
Stock # |
IGL01942
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
49535976-49763354 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 49762962 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154089
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074368]
[ENSMUST00000123534]
[ENSMUST00000138884]
[ENSMUST00000146164]
|
AlphaFold |
Q8BZK4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074368
|
SMART Domains |
Protein: ENSMUSP00000073972 Gene: ENSMUSG00000021852
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
30 |
N/A |
INTRINSIC |
transmembrane domain
|
123 |
145 |
N/A |
INTRINSIC |
transmembrane domain
|
160 |
182 |
N/A |
INTRINSIC |
Pfam:SLC35F
|
216 |
435 |
7.6e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123534
|
SMART Domains |
Protein: ENSMUSP00000122405 Gene: ENSMUSG00000021852
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
30 |
N/A |
INTRINSIC |
transmembrane domain
|
123 |
145 |
N/A |
INTRINSIC |
transmembrane domain
|
160 |
182 |
N/A |
INTRINSIC |
transmembrane domain
|
217 |
234 |
N/A |
INTRINSIC |
transmembrane domain
|
239 |
261 |
N/A |
INTRINSIC |
transmembrane domain
|
274 |
296 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138884
|
SMART Domains |
Protein: ENSMUSP00000119007 Gene: ENSMUSG00000021852
Domain | Start | End | E-Value | Type |
Pfam:EmrE
|
18 |
143 |
1e-12 |
PFAM |
Pfam:EamA
|
57 |
135 |
8.4e-9 |
PFAM |
Pfam:DUF914
|
68 |
314 |
4.8e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146164
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
G |
A |
7: 45,635,997 (GRCm39) |
R1017W |
possibly damaging |
Het |
Arhgef26 |
A |
G |
3: 62,247,515 (GRCm39) |
R200G |
probably benign |
Het |
Arid4b |
A |
T |
13: 14,310,749 (GRCm39) |
|
probably benign |
Het |
Atp1a2 |
A |
C |
1: 172,113,876 (GRCm39) |
S369A |
probably benign |
Het |
Bag3 |
T |
A |
7: 128,148,024 (GRCm39) |
D546E |
probably benign |
Het |
Bcl6b |
T |
A |
11: 70,117,569 (GRCm39) |
Y379F |
probably damaging |
Het |
Cbln2 |
T |
C |
18: 86,734,450 (GRCm39) |
V136A |
probably benign |
Het |
Ccnf |
A |
T |
17: 24,461,294 (GRCm39) |
D120E |
probably benign |
Het |
Cd14 |
T |
A |
18: 36,858,693 (GRCm39) |
H254L |
possibly damaging |
Het |
Chd3 |
A |
G |
11: 69,240,931 (GRCm39) |
|
probably null |
Het |
Csf2rb |
G |
A |
15: 78,224,692 (GRCm39) |
R150H |
probably benign |
Het |
Dhx35 |
T |
C |
2: 158,673,784 (GRCm39) |
L405P |
probably damaging |
Het |
Dpf1 |
G |
A |
7: 29,015,927 (GRCm39) |
C383Y |
probably damaging |
Het |
Dse |
T |
A |
10: 34,031,989 (GRCm39) |
Q345L |
probably benign |
Het |
Gnaz |
A |
G |
10: 74,850,706 (GRCm39) |
M244V |
probably damaging |
Het |
Gpr65 |
A |
T |
12: 98,241,974 (GRCm39) |
Y209F |
possibly damaging |
Het |
Inpp5f |
T |
C |
7: 128,269,493 (GRCm39) |
I281T |
probably damaging |
Het |
Kntc1 |
T |
C |
5: 123,916,330 (GRCm39) |
F721S |
probably damaging |
Het |
Mapk8ip2 |
G |
A |
15: 89,341,220 (GRCm39) |
|
probably null |
Het |
Med24 |
G |
A |
11: 98,600,508 (GRCm39) |
R646W |
probably damaging |
Het |
Nup98 |
A |
T |
7: 101,843,918 (GRCm39) |
F102Y |
probably damaging |
Het |
Or1n2 |
A |
G |
2: 36,797,869 (GRCm39) |
M304V |
probably benign |
Het |
Or4c35 |
G |
T |
2: 89,808,322 (GRCm39) |
V67L |
probably benign |
Het |
Or8g50 |
A |
T |
9: 39,648,962 (GRCm39) |
M284L |
possibly damaging |
Het |
Pgap3 |
T |
C |
11: 98,288,780 (GRCm39) |
Y125C |
probably damaging |
Het |
Rasl12 |
T |
C |
9: 65,315,644 (GRCm39) |
V96A |
probably damaging |
Het |
Rbm20 |
G |
A |
19: 53,801,874 (GRCm39) |
M127I |
probably damaging |
Het |
Rnf114 |
T |
A |
2: 167,354,546 (GRCm39) |
|
probably null |
Het |
Serpinb1b |
C |
T |
13: 33,269,294 (GRCm39) |
T9I |
possibly damaging |
Het |
Setd1b |
T |
A |
5: 123,301,489 (GRCm39) |
F16I |
possibly damaging |
Het |
Slc25a28 |
A |
G |
19: 43,652,947 (GRCm39) |
F238S |
probably damaging |
Het |
Slc2a2 |
T |
C |
3: 28,759,952 (GRCm39) |
V30A |
probably damaging |
Het |
Socs4 |
T |
A |
14: 47,528,107 (GRCm39) |
C347* |
probably null |
Het |
Spock1 |
C |
T |
13: 57,578,141 (GRCm39) |
E367K |
probably damaging |
Het |
Ubap2 |
C |
T |
4: 41,251,608 (GRCm39) |
R8H |
probably benign |
Het |
Vmn1r44 |
T |
A |
6: 89,870,806 (GRCm39) |
M41K |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Zfp575 |
T |
C |
7: 24,285,240 (GRCm39) |
T134A |
possibly damaging |
Het |
|
Other mutations in Slc35f4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01511:Slc35f4
|
APN |
14 |
49,536,334 (GRCm39) |
missense |
probably benign |
0.15 |
IGL01640:Slc35f4
|
APN |
14 |
49,556,225 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01990:Slc35f4
|
APN |
14 |
49,541,626 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02097:Slc35f4
|
APN |
14 |
49,543,703 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02803:Slc35f4
|
APN |
14 |
49,541,714 (GRCm39) |
missense |
probably benign |
0.00 |
R0005:Slc35f4
|
UTSW |
14 |
49,559,943 (GRCm39) |
splice site |
probably benign |
|
R0238:Slc35f4
|
UTSW |
14 |
49,541,713 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0238:Slc35f4
|
UTSW |
14 |
49,541,713 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0239:Slc35f4
|
UTSW |
14 |
49,541,713 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0239:Slc35f4
|
UTSW |
14 |
49,541,713 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0764:Slc35f4
|
UTSW |
14 |
49,543,796 (GRCm39) |
splice site |
probably benign |
|
R1884:Slc35f4
|
UTSW |
14 |
49,551,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R1916:Slc35f4
|
UTSW |
14 |
49,541,380 (GRCm39) |
intron |
probably benign |
|
R2047:Slc35f4
|
UTSW |
14 |
49,541,029 (GRCm39) |
intron |
probably benign |
|
R2239:Slc35f4
|
UTSW |
14 |
49,543,660 (GRCm39) |
critical splice donor site |
probably null |
|
R2380:Slc35f4
|
UTSW |
14 |
49,543,660 (GRCm39) |
critical splice donor site |
probably null |
|
R4273:Slc35f4
|
UTSW |
14 |
49,541,758 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4420:Slc35f4
|
UTSW |
14 |
49,551,034 (GRCm39) |
unclassified |
probably benign |
|
R4425:Slc35f4
|
UTSW |
14 |
49,556,307 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5261:Slc35f4
|
UTSW |
14 |
49,540,946 (GRCm39) |
intron |
probably benign |
|
R5398:Slc35f4
|
UTSW |
14 |
49,536,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R5402:Slc35f4
|
UTSW |
14 |
49,556,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R6310:Slc35f4
|
UTSW |
14 |
49,559,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R6596:Slc35f4
|
UTSW |
14 |
49,763,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R6729:Slc35f4
|
UTSW |
14 |
49,556,417 (GRCm39) |
missense |
probably benign |
0.16 |
R6864:Slc35f4
|
UTSW |
14 |
49,556,310 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7427:Slc35f4
|
UTSW |
14 |
49,536,355 (GRCm39) |
missense |
probably damaging |
0.99 |
R7428:Slc35f4
|
UTSW |
14 |
49,536,355 (GRCm39) |
missense |
probably damaging |
0.99 |
R7559:Slc35f4
|
UTSW |
14 |
49,541,732 (GRCm39) |
missense |
probably benign |
0.03 |
R7596:Slc35f4
|
UTSW |
14 |
49,543,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R7722:Slc35f4
|
UTSW |
14 |
49,543,731 (GRCm39) |
missense |
probably benign |
0.22 |
R8263:Slc35f4
|
UTSW |
14 |
49,551,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R8525:Slc35f4
|
UTSW |
14 |
49,541,681 (GRCm39) |
missense |
possibly damaging |
0.56 |
R9198:Slc35f4
|
UTSW |
14 |
49,556,377 (GRCm39) |
missense |
unknown |
|
R9615:Slc35f4
|
UTSW |
14 |
49,556,306 (GRCm39) |
missense |
probably benign |
0.00 |
R9751:Slc35f4
|
UTSW |
14 |
49,536,291 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9772:Slc35f4
|
UTSW |
14 |
49,551,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |