Incidental Mutation 'IGL02125:Slc13a4'
| ID |
280806 |
| 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: 0.870)
|
| Stock # |
IGL02125
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
35244888-35285061 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35255223 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 355
(E355G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031868
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031868]
|
| AlphaFold |
Q8BZ82 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031868
AA Change: E355G
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000031868
Gene: ENSMUSG00000029843
AA Change: E355G
| 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: 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
A |
T |
8: 56,324,974 (GRCm39) |
C493* |
probably null |
Het |
| Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,277,139 (GRCm39) |
|
probably benign |
Het |
| Anxa5 |
G |
A |
3: 36,506,413 (GRCm39) |
T213I |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,798,984 (GRCm39) |
L380S |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cacna2d2 |
C |
T |
9: 107,391,103 (GRCm39) |
Q411* |
probably null |
Het |
| Cdh19 |
A |
G |
1: 110,857,614 (GRCm39) |
V240A |
possibly damaging |
Het |
| Cltc |
A |
T |
11: 86,595,636 (GRCm39) |
|
probably benign |
Het |
| Dclk3 |
T |
A |
9: 111,298,175 (GRCm39) |
V573E |
probably damaging |
Het |
| Dhx29 |
T |
C |
13: 113,091,834 (GRCm39) |
|
probably benign |
Het |
| Dip2b |
T |
C |
15: 100,084,131 (GRCm39) |
L918P |
possibly damaging |
Het |
| Dzip3 |
A |
T |
16: 48,747,959 (GRCm39) |
N1150K |
probably damaging |
Het |
| Fgf5 |
T |
C |
5: 98,402,391 (GRCm39) |
S41P |
possibly damaging |
Het |
| Galc |
A |
T |
12: 98,197,768 (GRCm39) |
Y120N |
probably damaging |
Het |
| Gldc |
T |
C |
19: 30,124,641 (GRCm39) |
N219S |
probably benign |
Het |
| Gm11563 |
A |
T |
11: 99,549,631 (GRCm39) |
V41E |
unknown |
Het |
| Gpatch11 |
T |
A |
17: 79,147,538 (GRCm39) |
N106K |
probably benign |
Het |
| Gpx3 |
A |
G |
11: 54,798,068 (GRCm39) |
N68S |
probably damaging |
Het |
| Ibtk |
T |
C |
9: 85,617,123 (GRCm39) |
N150D |
probably damaging |
Het |
| Iglc2 |
G |
A |
16: 19,017,462 (GRCm39) |
P48S |
probably benign |
Het |
| Itih5 |
G |
A |
2: 10,245,798 (GRCm39) |
R629H |
probably benign |
Het |
| Kank1 |
T |
A |
19: 25,388,067 (GRCm39) |
V552E |
possibly damaging |
Het |
| Kmt2a |
T |
A |
9: 44,759,983 (GRCm39) |
H655L |
probably damaging |
Het |
| Mme |
A |
T |
3: 63,256,070 (GRCm39) |
N510I |
probably damaging |
Het |
| Mrtfb |
A |
G |
16: 13,218,047 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
G |
11: 58,913,188 (GRCm39) |
I6943T |
probably damaging |
Het |
| Obscn |
G |
T |
11: 58,984,152 (GRCm39) |
Q1768K |
possibly damaging |
Het |
| Or51k2 |
T |
A |
7: 103,596,279 (GRCm39) |
C169S |
probably damaging |
Het |
| Or5ac25 |
T |
C |
16: 59,181,879 (GRCm39) |
N234S |
probably benign |
Het |
| Otud3 |
A |
T |
4: 138,624,025 (GRCm39) |
|
probably null |
Het |
| Parp4 |
A |
G |
14: 56,827,959 (GRCm39) |
K237E |
probably benign |
Het |
| Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
| Pttg1ip2 |
T |
C |
5: 5,500,644 (GRCm39) |
*151W |
probably null |
Het |
| Rbbp6 |
T |
C |
7: 122,570,352 (GRCm39) |
|
probably null |
Het |
| Rdh16 |
G |
T |
10: 127,647,188 (GRCm39) |
|
probably benign |
Het |
| Ropn1 |
A |
G |
16: 34,487,147 (GRCm39) |
T28A |
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,152,607 (GRCm39) |
V873A |
probably damaging |
Het |
| Serpinb3b |
T |
A |
1: 107,082,474 (GRCm39) |
L263F |
probably damaging |
Het |
| Shq1 |
T |
C |
6: 100,607,967 (GRCm39) |
T315A |
probably benign |
Het |
| Slc26a9 |
T |
C |
1: 131,687,175 (GRCm39) |
S445P |
probably damaging |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,098,515 (GRCm39) |
M550L |
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,815,419 (GRCm39) |
N871S |
possibly damaging |
Het |
| Syt17 |
T |
C |
7: 118,009,197 (GRCm39) |
D341G |
probably benign |
Het |
| Tmem62 |
A |
G |
2: 120,826,993 (GRCm39) |
Y430C |
probably benign |
Het |
| Upp1 |
A |
G |
11: 9,075,650 (GRCm39) |
|
probably benign |
Het |
| Vmn1r91 |
T |
G |
7: 19,835,429 (GRCm39) |
V116G |
probably damaging |
Het |
| Vmn2r101 |
A |
T |
17: 19,809,963 (GRCm39) |
I250F |
possibly damaging |
Het |
| Vmn2r116 |
T |
G |
17: 23,616,601 (GRCm39) |
|
probably benign |
Het |
| Vmn2r72 |
C |
T |
7: 85,399,919 (GRCm39) |
V377I |
probably benign |
Het |
| Zfp592 |
G |
T |
7: 80,687,932 (GRCm39) |
A953S |
probably benign |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation