Incidental Mutation 'R7971:Slc13a4'
ID |
650605 |
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 |
046014-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.887)
|
Stock # |
R7971 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
35244888-35285061 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35248695 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 484
(L484P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031868
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031868]
|
AlphaFold |
Q8BZ82 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031868
AA Change: L484P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031868 Gene: ENSMUSG00000029843 AA Change: L484P
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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (46/47) |
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 |
5530401A14Rik |
G |
A |
11: 81,754,526 (GRCm39) |
A16T |
unknown |
Het |
Abcc1 |
T |
A |
16: 14,266,443 (GRCm39) |
D880E |
probably benign |
Het |
Adamts2 |
G |
A |
11: 50,647,523 (GRCm39) |
V299I |
probably damaging |
Het |
Akap6 |
T |
C |
12: 53,186,578 (GRCm39) |
S1331P |
probably damaging |
Het |
Alms1 |
T |
C |
6: 85,605,661 (GRCm39) |
L1968S |
probably benign |
Het |
Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
Cacnb2 |
A |
T |
2: 14,976,409 (GRCm39) |
M277L |
possibly damaging |
Het |
Cd80 |
T |
A |
16: 38,294,391 (GRCm39) |
Y91* |
probably null |
Het |
Cfap46 |
A |
G |
7: 139,215,043 (GRCm39) |
S1561P |
unknown |
Het |
Clasp1 |
C |
T |
1: 118,449,559 (GRCm39) |
R647W |
probably damaging |
Het |
Creld1 |
T |
C |
6: 113,468,933 (GRCm39) |
V299A |
probably benign |
Het |
Csk |
C |
A |
9: 57,535,970 (GRCm39) |
G260V |
probably benign |
Het |
Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
Dgkg |
G |
A |
16: 22,388,966 (GRCm39) |
Q403* |
probably null |
Het |
Dnaaf2 |
T |
C |
12: 69,244,119 (GRCm39) |
D314G |
probably damaging |
Het |
Dsp |
T |
A |
13: 38,376,499 (GRCm39) |
L1428Q |
probably damaging |
Het |
Fastkd1 |
A |
G |
2: 69,537,703 (GRCm39) |
V293A |
probably benign |
Het |
Gm4353 |
C |
A |
7: 115,682,747 (GRCm39) |
S278I |
possibly damaging |
Het |
Hmgb2 |
A |
G |
8: 57,966,168 (GRCm39) |
M75V |
possibly damaging |
Het |
Hoxa4 |
G |
A |
6: 52,168,711 (GRCm39) |
|
probably benign |
Het |
Ifi206 |
A |
T |
1: 173,298,976 (GRCm39) |
W877R |
unknown |
Het |
Ifi44 |
T |
A |
3: 151,454,857 (GRCm39) |
I123F |
possibly damaging |
Het |
Kcnh6 |
A |
G |
11: 105,908,353 (GRCm39) |
Y323C |
probably damaging |
Het |
Lars1 |
T |
C |
18: 42,351,631 (GRCm39) |
T858A |
probably benign |
Het |
Mest |
T |
A |
6: 30,740,734 (GRCm39) |
I38N |
|
Het |
Npy2r |
A |
T |
3: 82,448,175 (GRCm39) |
I200N |
probably damaging |
Het |
Olfm4 |
T |
A |
14: 80,259,240 (GRCm39) |
M496K |
probably damaging |
Het |
Olfml2a |
A |
T |
2: 38,831,794 (GRCm39) |
|
probably null |
Het |
Omd |
A |
T |
13: 49,743,730 (GRCm39) |
H260L |
probably benign |
Het |
Or8c16 |
G |
T |
9: 38,130,843 (GRCm39) |
L238F |
probably benign |
Het |
Pigk |
C |
A |
3: 152,450,176 (GRCm39) |
Q274K |
probably benign |
Het |
Pmpca |
G |
A |
2: 26,283,164 (GRCm39) |
G352R |
probably damaging |
Het |
Prex1 |
C |
T |
2: 166,423,859 (GRCm39) |
S1181N |
probably damaging |
Het |
Prkg2 |
A |
T |
5: 99,079,873 (GRCm39) |
F762Y |
probably damaging |
Het |
Rcc1l |
A |
G |
5: 134,194,208 (GRCm39) |
S250P |
probably damaging |
Het |
Rufy1 |
A |
T |
11: 50,312,498 (GRCm39) |
F152Y |
probably damaging |
Het |
Scaf1 |
T |
A |
7: 44,652,965 (GRCm39) |
T1179S |
unknown |
Het |
Sh3d19 |
A |
G |
3: 86,022,103 (GRCm39) |
D511G |
probably benign |
Het |
Shroom3 |
C |
T |
5: 93,098,933 (GRCm39) |
S1471L |
probably damaging |
Het |
Slc12a4 |
G |
A |
8: 106,678,237 (GRCm39) |
R319W |
possibly damaging |
Het |
Slc35a1 |
T |
C |
4: 34,664,161 (GRCm39) |
D319G |
probably benign |
Het |
Synm |
T |
C |
7: 67,384,983 (GRCm39) |
E893G |
possibly damaging |
Het |
Tatdn2 |
A |
G |
6: 113,687,235 (GRCm39) |
|
probably null |
Het |
Thada |
T |
A |
17: 84,580,197 (GRCm39) |
D1419V |
possibly damaging |
Het |
Tmem87b |
A |
G |
2: 128,692,250 (GRCm39) |
D535G |
probably null |
Het |
Tnfrsf25 |
A |
C |
4: 152,204,193 (GRCm39) |
Q378P |
probably damaging |
Het |
Trim34a |
T |
C |
7: 103,897,025 (GRCm39) |
C30R |
probably damaging |
Het |
Triml2 |
T |
C |
8: 43,643,313 (GRCm39) |
S212P |
probably damaging |
Het |
Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
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 |
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'- GTCTTATCCACTCACCAGGG -3'
(R):5'- AATGTCCCATGAGCAGGAAAC -3'
Sequencing Primer
(F):5'- TTATCCACTCACCAGGGTACAAAGG -3'
(R):5'- GTACAATCTTGAGACATTTCTGCGC -3'
|
Posted On |
2020-09-15 |