Incidental Mutation 'R8486:Slc13a4'
ID |
657734 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc13a4
|
Ensembl Gene |
ENSMUSG00000029843 |
Gene Name |
solute carrier family 13 (sodium/sulfate symporters), member 4 |
Synonyms |
SUT-1, SUT1, 9630060C05Rik |
MMRRC Submission |
067929-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.887)
|
Stock # |
R8486 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
35244888-35285061 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35247304 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 572
(Y572C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031868
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031868]
|
AlphaFold |
Q8BZ82 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031868
AA Change: Y572C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031868 Gene: ENSMUSG00000029843 AA Change: Y572C
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (51/51) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,225,092 (GRCm39) |
S524G |
probably benign |
Het |
Abca8b |
A |
T |
11: 109,857,937 (GRCm39) |
I546N |
possibly damaging |
Het |
Abcd4 |
C |
T |
12: 84,650,752 (GRCm39) |
R532H |
probably damaging |
Het |
Acsf2 |
A |
T |
11: 94,460,786 (GRCm39) |
D373E |
probably damaging |
Het |
Acsm1 |
A |
G |
7: 119,259,880 (GRCm39) |
T510A |
probably damaging |
Het |
Adam21 |
C |
T |
12: 81,607,550 (GRCm39) |
V71I |
probably benign |
Het |
Adgra3 |
T |
C |
5: 50,147,621 (GRCm39) |
D473G |
probably damaging |
Het |
Agbl2 |
G |
A |
2: 90,631,499 (GRCm39) |
V286I |
possibly damaging |
Het |
Alkbh8 |
A |
G |
9: 3,344,642 (GRCm39) |
E141G |
probably null |
Het |
Arhgap21 |
T |
C |
2: 20,865,236 (GRCm39) |
D952G |
probably damaging |
Het |
Asb4 |
A |
T |
6: 5,390,653 (GRCm39) |
K15N |
possibly damaging |
Het |
Cert1 |
T |
C |
13: 96,770,690 (GRCm39) |
V533A |
probably damaging |
Het |
Clip1 |
G |
T |
5: 123,752,770 (GRCm39) |
|
probably benign |
Het |
Clip4 |
T |
C |
17: 72,170,839 (GRCm39) |
|
probably benign |
Het |
Cyp2b10 |
T |
C |
7: 25,614,306 (GRCm39) |
V260A |
probably benign |
Het |
Dnm1 |
C |
T |
2: 32,224,739 (GRCm39) |
M430I |
probably benign |
Het |
Dpp7 |
T |
C |
2: 25,242,561 (GRCm39) |
D464G |
probably damaging |
Het |
Dspp |
A |
G |
5: 104,321,883 (GRCm39) |
|
probably benign |
Het |
Ephb1 |
A |
C |
9: 101,841,164 (GRCm39) |
D730E |
probably benign |
Het |
Fancf |
A |
G |
7: 51,511,632 (GRCm39) |
V124A |
probably benign |
Het |
Fgfr2 |
G |
A |
7: 129,765,745 (GRCm39) |
P692S |
possibly damaging |
Het |
Fkbp15 |
G |
A |
4: 62,230,521 (GRCm39) |
R731* |
probably null |
Het |
Fos |
T |
C |
12: 85,522,805 (GRCm39) |
F239S |
probably benign |
Het |
Fuz |
T |
C |
7: 44,548,092 (GRCm39) |
Y107H |
probably damaging |
Het |
Gm3159 |
A |
C |
14: 4,400,520 (GRCm38) |
N193T |
probably damaging |
Het |
Helz2 |
T |
A |
2: 180,871,124 (GRCm39) |
D2771V |
probably damaging |
Het |
Ighv1-18 |
T |
A |
12: 114,646,325 (GRCm39) |
K92M |
probably damaging |
Het |
Kcnh3 |
A |
G |
15: 99,136,091 (GRCm39) |
Y696C |
probably damaging |
Het |
Klf15 |
T |
A |
6: 90,444,160 (GRCm39) |
V245D |
probably damaging |
Het |
L1td1 |
C |
T |
4: 98,625,911 (GRCm39) |
A702V |
probably damaging |
Het |
Lamc2 |
A |
G |
1: 153,034,637 (GRCm39) |
M122T |
probably benign |
Het |
Lrp1b |
A |
G |
2: 41,618,702 (GRCm39) |
L124P |
probably damaging |
Het |
Mcrs1 |
G |
T |
15: 99,146,349 (GRCm39) |
Y85* |
probably null |
Het |
Mgst1 |
A |
T |
6: 138,120,026 (GRCm39) |
I29L |
probably benign |
Het |
Miga1 |
C |
T |
3: 151,982,390 (GRCm39) |
R562H |
probably damaging |
Het |
Mybpc3 |
T |
C |
2: 90,959,117 (GRCm39) |
W687R |
probably damaging |
Het |
Myh11 |
G |
T |
16: 14,022,532 (GRCm39) |
A1682D |
possibly damaging |
Het |
Nes |
T |
C |
3: 87,887,320 (GRCm39) |
S1816P |
probably damaging |
Het |
Or52p1 |
T |
C |
7: 104,267,069 (GRCm39) |
V69A |
possibly damaging |
Het |
Or5c1 |
T |
G |
2: 37,222,662 (GRCm39) |
V301G |
probably damaging |
Het |
Pkhd1l1 |
T |
G |
15: 44,410,812 (GRCm39) |
F2773C |
probably damaging |
Het |
Pkp1 |
C |
G |
1: 135,846,714 (GRCm39) |
E13Q |
probably damaging |
Het |
Ppp2r2b |
T |
C |
18: 43,031,869 (GRCm39) |
D4G |
probably benign |
Het |
Ppp6r3 |
G |
A |
19: 3,537,072 (GRCm39) |
H455Y |
probably benign |
Het |
R3hdm1 |
A |
G |
1: 128,106,657 (GRCm39) |
R202G |
probably benign |
Het |
Sgcz |
T |
G |
8: 38,190,207 (GRCm39) |
K106N |
probably benign |
Het |
Syne2 |
C |
T |
12: 76,088,881 (GRCm39) |
Q5080* |
probably null |
Het |
Tpst2 |
C |
T |
5: 112,456,171 (GRCm39) |
Q5* |
probably null |
Het |
Ttn |
T |
A |
2: 76,561,877 (GRCm39) |
T28908S |
possibly damaging |
Het |
Vmn1r120 |
C |
T |
7: 20,787,027 (GRCm39) |
R228H |
probably benign |
Het |
Vmn2r3 |
T |
C |
3: 64,186,370 (GRCm39) |
N105S |
probably damaging |
Het |
Zfp521 |
T |
C |
18: 13,979,829 (GRCm39) |
T195A |
probably damaging |
Het |
Zfp616 |
T |
A |
11: 73,974,909 (GRCm39) |
S484T |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTCCCGATGAGAGTTAGGGAG -3'
(R):5'- CATTCACGCACAGGAAATGC -3'
Sequencing Primer
(F):5'- GCCCATTGCTGTTCCTGGAG -3'
(R):5'- AATGCCCACCTAGTCTCAGTTAATG -3'
|
Posted On |
2021-01-18 |