Incidental Mutation 'R3689:Slc13a4'
ID |
269665 |
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 |
040684-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.887)
|
Stock # |
R3689 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
35244888-35285061 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35245845 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 600
(N600S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031868
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031868]
|
AlphaFold |
Q8BZ82 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031868
AA Change: N600S
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000031868 Gene: ENSMUSG00000029843 AA Change: N600S
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 |
|
Meta Mutation Damage Score |
0.0991 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (53/53) |
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 |
Adcy2 |
A |
T |
13: 68,779,088 (GRCm39) |
L984Q |
probably damaging |
Het |
Atg16l1 |
T |
C |
1: 87,713,626 (GRCm39) |
V427A |
probably damaging |
Het |
Bclaf1 |
C |
T |
10: 20,201,143 (GRCm39) |
T423I |
possibly damaging |
Het |
Blm |
G |
C |
7: 80,162,827 (GRCm39) |
P175A |
possibly damaging |
Het |
Bpifb1 |
A |
G |
2: 154,051,819 (GRCm39) |
D208G |
probably benign |
Het |
Cdc42ep1 |
T |
C |
15: 78,731,629 (GRCm39) |
S25P |
probably benign |
Het |
Cep162 |
G |
A |
9: 87,107,747 (GRCm39) |
Q548* |
probably null |
Het |
Chchd10 |
T |
C |
10: 75,771,835 (GRCm39) |
|
probably benign |
Het |
Cog3 |
T |
C |
14: 75,991,878 (GRCm39) |
M1V |
probably null |
Het |
Dcx |
T |
C |
X: 142,660,240 (GRCm39) |
E268G |
possibly damaging |
Het |
Erich2 |
T |
C |
2: 70,371,097 (GRCm39) |
V419A |
unknown |
Het |
Fam53c |
A |
G |
18: 34,903,886 (GRCm39) |
D386G |
probably damaging |
Het |
Fgd2 |
A |
G |
17: 29,597,924 (GRCm39) |
T620A |
probably benign |
Het |
G930045G22Rik |
A |
T |
6: 50,823,535 (GRCm39) |
|
noncoding transcript |
Het |
Grpel1 |
G |
A |
5: 36,626,769 (GRCm39) |
|
probably null |
Het |
Map3k15 |
T |
A |
X: 158,905,568 (GRCm39) |
N1295K |
possibly damaging |
Het |
Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
Mrpl44 |
T |
A |
1: 79,757,366 (GRCm39) |
Y270* |
probably null |
Het |
Mtss1 |
A |
G |
15: 58,825,385 (GRCm39) |
S272P |
probably damaging |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
N4bp1 |
C |
T |
8: 87,587,184 (GRCm39) |
D585N |
probably damaging |
Het |
Napb |
T |
C |
2: 148,544,977 (GRCm39) |
|
probably null |
Het |
Nexmif |
A |
T |
X: 103,131,213 (GRCm39) |
Y235N |
probably damaging |
Het |
Niban1 |
A |
G |
1: 151,579,447 (GRCm39) |
|
probably null |
Het |
Nms |
T |
C |
1: 38,986,075 (GRCm39) |
|
probably benign |
Het |
Nsun2 |
A |
G |
13: 69,760,456 (GRCm39) |
N45D |
probably damaging |
Het |
Or4c116 |
T |
A |
2: 88,942,386 (GRCm39) |
I157L |
possibly damaging |
Het |
Pak6 |
C |
T |
2: 118,523,921 (GRCm39) |
Q359* |
probably null |
Het |
Pcdhb12 |
C |
T |
18: 37,569,127 (GRCm39) |
A91V |
probably benign |
Het |
Pde11a |
T |
A |
2: 76,121,510 (GRCm39) |
K357I |
probably damaging |
Het |
Piwil4 |
T |
C |
9: 14,637,259 (GRCm39) |
T352A |
probably damaging |
Het |
Plscr1l1 |
A |
C |
9: 92,234,673 (GRCm39) |
N60T |
probably damaging |
Het |
Sec31a |
T |
A |
5: 100,530,766 (GRCm39) |
D239V |
probably damaging |
Het |
Smc1b |
T |
A |
15: 85,001,464 (GRCm39) |
|
probably benign |
Het |
Spatc1 |
A |
T |
15: 76,152,495 (GRCm39) |
K42* |
probably null |
Het |
Sprr2j-ps |
A |
G |
3: 92,326,290 (GRCm39) |
H55R |
probably benign |
Het |
Srsf9 |
A |
G |
5: 115,465,387 (GRCm39) |
D7G |
probably benign |
Het |
Stt3a |
T |
C |
9: 36,670,618 (GRCm39) |
Y51C |
probably damaging |
Het |
Taf5 |
A |
G |
19: 47,067,224 (GRCm39) |
K519E |
probably damaging |
Het |
Taf7l |
A |
T |
X: 133,365,074 (GRCm39) |
I449K |
probably damaging |
Het |
Tnk1 |
C |
A |
11: 69,746,425 (GRCm39) |
D263Y |
probably damaging |
Het |
Ttc21b |
T |
A |
2: 66,054,488 (GRCm39) |
I714F |
probably benign |
Het |
Ttn |
C |
G |
2: 76,629,588 (GRCm39) |
W14284C |
probably damaging |
Het |
Txn1 |
T |
C |
4: 57,950,846 (GRCm39) |
D61G |
probably benign |
Het |
Ugcg |
T |
C |
4: 59,211,883 (GRCm39) |
V83A |
probably benign |
Het |
Ulk3 |
T |
C |
9: 57,501,077 (GRCm39) |
V348A |
probably benign |
Het |
Wdr93 |
A |
G |
7: 79,421,333 (GRCm39) |
T409A |
possibly damaging |
Het |
Wfikkn1 |
A |
G |
17: 26,097,692 (GRCm39) |
C211R |
probably damaging |
Het |
Zap70 |
T |
C |
1: 36,820,493 (GRCm39) |
C563R |
probably damaging |
Het |
Zc3h12c |
C |
T |
9: 52,027,256 (GRCm39) |
R721H |
probably benign |
Het |
Zfp169 |
A |
G |
13: 48,660,377 (GRCm39) |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AATAGCCTCCATGTGGGTCTG -3'
(R):5'- CCATGGGTATGACTTGATGAGG -3'
Sequencing Primer
(F):5'- CTCCATGTGGGTCTGGGGTTTATG -3'
(R):5'- TGAGACAGTCTGGATGCT -3'
|
Posted On |
2015-02-19 |