Incidental Mutation 'IGL01560:Slc13a4'
| ID |
90833 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc13a4
|
| Ensembl Gene |
ENSMUSG00000029843 |
| Gene Name |
solute carrier family 13 (sodium/sulfate symporters), member 4 |
| Synonyms |
SUT-1, SUT1, 9630060C05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.887)
|
| Stock # |
IGL01560
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
35244888-35285061 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 35248538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031868
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031868]
|
| AlphaFold |
Q8BZ82 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031868
|
| SMART Domains |
Protein: ENSMUSP00000031868
Gene: ENSMUSG00000029843
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_sulph_symp
|
5 |
609 |
3.2e-105 |
PFAM |
|
Pfam:CitMHS
|
45 |
166 |
1.1e-15 |
PFAM |
|
Pfam:CitMHS
|
251 |
531 |
8.9e-18 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele display lethality before birth, impaired placental sulfate transport, failure of bone ossification, impaired vascular development, hemorrhaging, and cleft palate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap28 |
A |
T |
17: 68,203,066 (GRCm39) |
I129N |
probably damaging |
Het |
| Arsb |
A |
G |
13: 93,944,106 (GRCm39) |
I266V |
probably benign |
Het |
| Atp6v1b1 |
A |
G |
6: 83,726,897 (GRCm39) |
|
probably benign |
Het |
| Cacna1d |
C |
T |
14: 29,821,163 (GRCm39) |
V1118I |
probably benign |
Het |
| Cadps |
A |
T |
14: 12,491,792 (GRCm38) |
V791D |
probably damaging |
Het |
| Cdh2 |
T |
C |
18: 16,783,495 (GRCm39) |
D78G |
probably benign |
Het |
| Fem1al |
A |
T |
11: 29,774,643 (GRCm39) |
Y271* |
probably null |
Het |
| Flnb |
T |
G |
14: 7,893,829 (GRCm38) |
I714S |
probably benign |
Het |
| Fzd1 |
A |
G |
5: 4,806,037 (GRCm39) |
M515T |
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,015,547 (GRCm39) |
F1288Y |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,659,191 (GRCm39) |
I1868V |
probably benign |
Het |
| Mmel1 |
A |
G |
4: 154,976,967 (GRCm39) |
D561G |
probably null |
Het |
| Mypn |
A |
T |
10: 62,970,743 (GRCm39) |
V887E |
probably benign |
Het |
| Or4c118 |
C |
T |
2: 88,974,947 (GRCm39) |
C140Y |
probably damaging |
Het |
| Or6p1 |
A |
T |
1: 174,258,467 (GRCm39) |
M158L |
probably benign |
Het |
| Or7g28 |
T |
C |
9: 19,271,842 (GRCm39) |
T270A |
probably benign |
Het |
| Osbpl5 |
C |
A |
7: 143,269,430 (GRCm39) |
E49* |
probably null |
Het |
| Prpf8 |
A |
G |
11: 75,381,232 (GRCm39) |
Q189R |
possibly damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Six6 |
T |
A |
12: 72,986,831 (GRCm39) |
M1K |
probably null |
Het |
| Slc17a1 |
T |
A |
13: 24,058,612 (GRCm39) |
I22N |
probably damaging |
Het |
| Thsd7b |
C |
T |
1: 130,145,918 (GRCm39) |
|
probably benign |
Het |
| Thumpd3 |
A |
G |
6: 113,040,120 (GRCm39) |
I335V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,602,016 (GRCm39) |
T18549A |
possibly damaging |
Het |
| Ugt2b37 |
G |
T |
5: 87,399,698 (GRCm39) |
P270Q |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,105,352 (GRCm39) |
Y158* |
probably null |
Het |
| Zfp282 |
A |
T |
6: 47,857,211 (GRCm39) |
E148V |
probably damaging |
Het |
|
| Other mutations in Slc13a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Slc13a4
|
APN |
6 |
35,266,759 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00975:Slc13a4
|
APN |
6 |
35,251,910 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01069:Slc13a4
|
APN |
6 |
35,245,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01319:Slc13a4
|
APN |
6 |
35,284,288 (GRCm39) |
splice site |
probably null |
|
|
IGL02125:Slc13a4
|
APN |
6 |
35,255,223 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02415:Slc13a4
|
APN |
6 |
35,260,172 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02888:Slc13a4
|
APN |
6 |
35,245,775 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0047:Slc13a4
|
UTSW |
6 |
35,264,297 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0047:Slc13a4
|
UTSW |
6 |
35,264,297 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0532:Slc13a4
|
UTSW |
6 |
35,264,339 (GRCm39) |
splice site |
probably null |
|
|
R0747:Slc13a4
|
UTSW |
6 |
35,255,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1391:Slc13a4
|
UTSW |
6 |
35,248,597 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2106:Slc13a4
|
UTSW |
6 |
35,264,799 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2253:Slc13a4
|
UTSW |
6 |
35,257,418 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3195:Slc13a4
|
UTSW |
6 |
35,245,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3689:Slc13a4
|
UTSW |
6 |
35,245,845 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3698:Slc13a4
|
UTSW |
6 |
35,251,892 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3785:Slc13a4
|
UTSW |
6 |
35,264,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3856:Slc13a4
|
UTSW |
6 |
35,248,539 (GRCm39) |
splice site |
probably null |
|
|
R5400:Slc13a4
|
UTSW |
6 |
35,278,777 (GRCm39) |
nonsense |
probably null |
|
|
R6142:Slc13a4
|
UTSW |
6 |
35,278,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6645:Slc13a4
|
UTSW |
6 |
35,245,774 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6851:Slc13a4
|
UTSW |
6 |
35,278,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7200:Slc13a4
|
UTSW |
6 |
35,264,285 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7513:Slc13a4
|
UTSW |
6 |
35,260,272 (GRCm39) |
splice site |
probably null |
|
|
R7590:Slc13a4
|
UTSW |
6 |
35,256,398 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7673:Slc13a4
|
UTSW |
6 |
35,253,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7706:Slc13a4
|
UTSW |
6 |
35,247,290 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7971:Slc13a4
|
UTSW |
6 |
35,248,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8056:Slc13a4
|
UTSW |
6 |
35,245,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8428:Slc13a4
|
UTSW |
6 |
35,245,814 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8486:Slc13a4
|
UTSW |
6 |
35,247,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8767:Slc13a4
|
UTSW |
6 |
35,245,783 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8795:Slc13a4
|
UTSW |
6 |
35,260,230 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9145:Slc13a4
|
UTSW |
6 |
35,247,290 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9431:Slc13a4
|
UTSW |
6 |
35,278,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Slc13a4
|
UTSW |
6 |
35,255,227 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Slc13a4
|
UTSW |
6 |
35,266,785 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Slc13a4
|
UTSW |
6 |
35,266,784 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
| Posted On |
2013-12-09 |
Incidental Mutation