Incidental Mutation 'IGL02415:Slc13a4'
ID |
292428 |
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 # |
IGL02415
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
35244888-35285061 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 35260172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031868
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031868]
[ENSMUST00000031868]
|
AlphaFold |
Q8BZ82 |
Predicted Effect |
probably null
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 |
|
Predicted Effect |
probably null
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122829
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155366
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110059G10Rik |
T |
C |
9: 122,777,056 (GRCm39) |
D124G |
probably benign |
Het |
Adamts13 |
T |
A |
2: 26,879,295 (GRCm39) |
I616N |
possibly damaging |
Het |
Adamts3 |
T |
C |
5: 89,854,506 (GRCm39) |
|
probably null |
Het |
Amy1 |
T |
C |
3: 113,357,234 (GRCm39) |
I202V |
probably benign |
Het |
Bdp1 |
G |
A |
13: 100,225,916 (GRCm39) |
T322I |
probably damaging |
Het |
Cep295 |
A |
G |
9: 15,264,316 (GRCm39) |
L110S |
probably damaging |
Het |
Cep72 |
T |
C |
13: 74,198,273 (GRCm39) |
D369G |
probably benign |
Het |
Chd3 |
A |
T |
11: 69,239,739 (GRCm39) |
|
probably benign |
Het |
Ckmt2 |
G |
A |
13: 92,011,459 (GRCm39) |
|
probably benign |
Het |
Cyp2s1 |
T |
C |
7: 25,507,562 (GRCm39) |
T296A |
probably damaging |
Het |
E2f5 |
T |
A |
3: 14,668,957 (GRCm39) |
V283E |
probably benign |
Het |
Eeig2 |
A |
G |
3: 108,887,608 (GRCm39) |
Y219H |
probably damaging |
Het |
F5 |
A |
G |
1: 164,019,498 (GRCm39) |
T658A |
probably damaging |
Het |
Gml |
A |
T |
15: 74,688,289 (GRCm39) |
Y59* |
probably null |
Het |
Kmo |
A |
T |
1: 175,476,889 (GRCm39) |
|
probably benign |
Het |
Krt25 |
A |
T |
11: 99,213,398 (GRCm39) |
I107N |
probably damaging |
Het |
Llgl2 |
A |
G |
11: 115,744,111 (GRCm39) |
M773V |
probably damaging |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Med12 |
T |
C |
X: 100,325,396 (GRCm39) |
V761A |
probably damaging |
Het |
Mrpl19 |
T |
C |
6: 81,940,942 (GRCm39) |
T150A |
probably benign |
Het |
Muc2 |
G |
T |
7: 141,305,609 (GRCm39) |
E646* |
probably null |
Het |
Muc20 |
T |
A |
16: 32,615,051 (GRCm39) |
T109S |
unknown |
Het |
Nr2f6 |
T |
C |
8: 71,827,156 (GRCm39) |
T382A |
probably benign |
Het |
Nrap |
A |
G |
19: 56,370,741 (GRCm39) |
I172T |
probably damaging |
Het |
Or5an1 |
A |
G |
19: 12,260,862 (GRCm39) |
Y150C |
probably benign |
Het |
Or8b47 |
T |
C |
9: 38,435,408 (GRCm39) |
C127R |
probably benign |
Het |
P3h1 |
A |
T |
4: 119,105,152 (GRCm39) |
Q710L |
probably benign |
Het |
Parvb |
A |
G |
15: 84,177,016 (GRCm39) |
H185R |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,484,645 (GRCm39) |
I1970T |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,592,983 (GRCm39) |
Y1710C |
probably damaging |
Het |
Plxna2 |
C |
A |
1: 194,326,272 (GRCm39) |
R69S |
probably damaging |
Het |
Rad51ap2 |
A |
G |
12: 11,506,930 (GRCm39) |
N284S |
possibly damaging |
Het |
Reln |
T |
A |
5: 22,176,949 (GRCm39) |
S1906C |
possibly damaging |
Het |
Rln1 |
T |
C |
19: 29,311,798 (GRCm39) |
R67G |
probably damaging |
Het |
Shcbp1 |
C |
T |
8: 4,804,239 (GRCm39) |
V224I |
possibly damaging |
Het |
Stx6 |
A |
G |
1: 155,069,059 (GRCm39) |
E195G |
possibly damaging |
Het |
Sult2b1 |
G |
T |
7: 45,391,509 (GRCm39) |
D90E |
possibly damaging |
Het |
Taok1 |
A |
G |
11: 77,431,066 (GRCm39) |
|
probably benign |
Het |
Tbx15 |
A |
T |
3: 99,259,826 (GRCm39) |
M566L |
probably benign |
Het |
Tcaf1 |
C |
T |
6: 42,663,584 (GRCm39) |
A99T |
probably benign |
Het |
Tcf20 |
T |
A |
15: 82,737,660 (GRCm39) |
M1264L |
probably benign |
Het |
Tenm4 |
G |
A |
7: 96,523,281 (GRCm39) |
V1571M |
probably damaging |
Het |
Ttc39a |
A |
G |
4: 109,288,726 (GRCm39) |
|
probably benign |
Het |
Ubr1 |
C |
A |
2: 120,801,084 (GRCm39) |
|
probably benign |
Het |
Ulk1 |
T |
C |
5: 110,935,487 (GRCm39) |
D926G |
probably damaging |
Het |
Vmn2r110 |
T |
C |
17: 20,804,033 (GRCm39) |
I181V |
probably benign |
Het |
Vmn2r66 |
G |
A |
7: 84,656,020 (GRCm39) |
T332I |
probably damaging |
Het |
Wdr1 |
C |
A |
5: 38,688,453 (GRCm39) |
D161Y |
probably damaging |
Het |
Wnt7a |
T |
C |
6: 91,371,539 (GRCm39) |
Y141C |
probably damaging |
Het |
Xrra1 |
G |
A |
7: 99,565,150 (GRCm39) |
E573K |
probably benign |
Het |
Zfp334 |
G |
T |
2: 165,223,771 (GRCm39) |
Q91K |
possibly 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 |
|
IGL01560:Slc13a4
|
APN |
6 |
35,248,538 (GRCm39) |
splice site |
probably benign |
|
IGL02125:Slc13a4
|
APN |
6 |
35,255,223 (GRCm39) |
missense |
probably benign |
0.23 |
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 |
2015-04-16 |