Incidental Mutation 'R0747:Slc13a4'
ID |
70181 |
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 |
038928-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.887)
|
Stock # |
R0747 (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 35255263 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 342
(T342A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031868
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031868]
|
AlphaFold |
Q8BZ82 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031868
AA Change: T342A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000031868 Gene: ENSMUSG00000029843 AA Change: T342A
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
|
Meta Mutation Damage Score |
0.1542 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 94.8%
|
Validation Efficiency |
100% (50/50) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam19 |
A |
T |
11: 46,009,322 (GRCm39) |
|
probably null |
Het |
Anks4b |
C |
T |
7: 119,781,386 (GRCm39) |
A139V |
probably damaging |
Het |
Arf1 |
G |
A |
11: 59,103,461 (GRCm39) |
R149C |
probably benign |
Het |
Axl |
A |
T |
7: 25,463,484 (GRCm39) |
C598S |
possibly damaging |
Het |
B3gnt2 |
T |
C |
11: 22,786,316 (GRCm39) |
I291V |
possibly damaging |
Het |
Ccdc158 |
T |
A |
5: 92,781,156 (GRCm39) |
H883L |
probably benign |
Het |
Cep15 |
T |
A |
14: 12,287,287 (GRCm38) |
M16K |
probably benign |
Het |
Col6a3 |
A |
G |
1: 90,730,375 (GRCm39) |
S1644P |
probably damaging |
Het |
Cspg4 |
T |
C |
9: 56,797,564 (GRCm39) |
S1343P |
probably damaging |
Het |
D430041D05Rik |
G |
T |
2: 104,060,651 (GRCm39) |
H1414Q |
probably damaging |
Het |
Dnah5 |
C |
G |
15: 28,444,332 (GRCm39) |
I4043M |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,444,333 (GRCm39) |
C4044S |
possibly damaging |
Het |
Dpep3 |
C |
T |
8: 106,704,018 (GRCm39) |
A267T |
probably benign |
Het |
Dync1h1 |
A |
C |
12: 110,578,845 (GRCm39) |
H106P |
probably benign |
Het |
Dync1h1 |
A |
C |
12: 110,595,718 (GRCm39) |
E1466A |
probably damaging |
Het |
Fggy |
T |
C |
4: 95,700,337 (GRCm39) |
|
probably benign |
Het |
Frmd6 |
A |
G |
12: 70,910,830 (GRCm39) |
T5A |
probably benign |
Het |
Gnb5 |
G |
A |
9: 75,218,752 (GRCm39) |
V26I |
probably benign |
Het |
Hephl1 |
A |
T |
9: 14,965,297 (GRCm39) |
|
probably benign |
Het |
Hmmr |
C |
T |
11: 40,612,572 (GRCm39) |
|
probably benign |
Het |
Hpn |
A |
T |
7: 30,798,971 (GRCm39) |
F356Y |
probably damaging |
Het |
Iqgap3 |
T |
C |
3: 88,014,810 (GRCm39) |
|
probably benign |
Het |
Ism2 |
A |
G |
12: 87,332,172 (GRCm39) |
|
probably benign |
Het |
Kansl1 |
T |
A |
11: 104,233,802 (GRCm39) |
M754L |
probably benign |
Het |
Kcnc4 |
A |
T |
3: 107,355,470 (GRCm39) |
I326N |
probably damaging |
Het |
Lcn6 |
G |
A |
2: 25,567,184 (GRCm39) |
V62M |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,760,353 (GRCm39) |
C2858S |
probably damaging |
Het |
Lyn |
G |
A |
4: 3,745,638 (GRCm39) |
|
probably benign |
Het |
Mov10 |
T |
A |
3: 104,709,812 (GRCm39) |
H358L |
probably benign |
Het |
Notch1 |
A |
G |
2: 26,362,152 (GRCm39) |
V60A |
unknown |
Het |
Or2t6 |
C |
T |
14: 14,175,429 (GRCm38) |
A218T |
probably benign |
Het |
Pgap2 |
C |
A |
7: 101,886,343 (GRCm39) |
Y176* |
probably null |
Het |
Pglyrp1 |
A |
G |
7: 18,624,200 (GRCm39) |
Q161R |
possibly damaging |
Het |
Plod3 |
A |
G |
5: 137,017,049 (GRCm39) |
N66S |
probably benign |
Het |
Psmc3 |
A |
G |
2: 90,884,645 (GRCm39) |
E18G |
probably benign |
Het |
Psme3 |
T |
G |
11: 101,207,872 (GRCm39) |
M9R |
probably benign |
Het |
Rapgef4 |
A |
G |
2: 72,053,417 (GRCm39) |
N428S |
possibly damaging |
Het |
Rbp3 |
A |
G |
14: 33,678,235 (GRCm39) |
I728V |
possibly damaging |
Het |
Sall4 |
A |
T |
2: 168,596,886 (GRCm39) |
H651Q |
probably damaging |
Het |
Skint3 |
T |
A |
4: 112,111,102 (GRCm39) |
Y76N |
probably damaging |
Het |
Slc25a1 |
G |
T |
16: 17,744,084 (GRCm39) |
T239K |
probably damaging |
Het |
Slc36a2 |
T |
A |
11: 55,060,685 (GRCm39) |
I242F |
probably benign |
Het |
Tekt2 |
G |
A |
4: 126,217,553 (GRCm39) |
Q171* |
probably null |
Het |
Tet2 |
T |
G |
3: 133,173,231 (GRCm39) |
H1677P |
possibly damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Trcg1 |
C |
T |
9: 57,149,204 (GRCm39) |
P259S |
probably benign |
Het |
Ttn |
A |
C |
2: 76,540,942 (GRCm39) |
S25688A |
probably damaging |
Het |
Vmn2r117 |
T |
A |
17: 23,694,477 (GRCm39) |
R457* |
probably null |
Het |
Zbbx |
C |
T |
3: 75,062,734 (GRCm39) |
V8I |
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCATGGCTCTGACATTAAACAGCAC -3'
(R):5'- TCCAAATGGATATGACCAAAGGCCC -3'
Sequencing Primer
(F):5'- AGCACCGTCTGAATGCTTAG -3'
(R):5'- AGACAGAAGCTGTGCAGACA -3'
|
Posted On |
2013-09-30 |