Incidental Mutation 'R5400:Slc13a4'
ID |
429931 |
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 |
042971-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.887)
|
Stock # |
R5400 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
35244888-35285061 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 35278777 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 37
(C37*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031868
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031868]
|
AlphaFold |
Q8BZ82 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031868
AA Change: C37*
|
SMART Domains |
Protein: ENSMUSP00000031868 Gene: ENSMUSG00000029843 AA Change: C37*
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: ENSMUST00000122829
|
Meta Mutation Damage Score |
0.9714 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
98% (64/65) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Accsl |
T |
C |
2: 93,689,767 (GRCm39) |
D380G |
probably damaging |
Het |
Afm |
T |
C |
5: 90,699,257 (GRCm39) |
L567P |
possibly damaging |
Het |
Anks1b |
A |
T |
10: 90,348,686 (GRCm39) |
I785L |
probably damaging |
Het |
Arpc5l |
G |
A |
2: 38,903,747 (GRCm39) |
G79S |
probably benign |
Het |
Arvcf |
G |
T |
16: 18,217,820 (GRCm39) |
R440L |
probably benign |
Het |
Atm |
T |
C |
9: 53,414,318 (GRCm39) |
D924G |
probably damaging |
Het |
Atp8b1 |
A |
T |
18: 64,679,060 (GRCm39) |
|
probably null |
Het |
Cd19 |
C |
T |
7: 126,013,624 (GRCm39) |
G55D |
probably benign |
Het |
Cd34 |
A |
G |
1: 194,621,266 (GRCm39) |
|
probably benign |
Het |
Cd69 |
T |
A |
6: 129,246,954 (GRCm39) |
M88L |
probably benign |
Het |
Ces2h |
A |
G |
8: 105,745,057 (GRCm39) |
E397G |
probably benign |
Het |
Ddx60 |
T |
C |
8: 62,463,036 (GRCm39) |
F1306L |
possibly damaging |
Het |
Dennd5b |
T |
C |
6: 148,901,514 (GRCm39) |
E1124G |
probably damaging |
Het |
Dio1 |
A |
T |
4: 107,164,185 (GRCm39) |
M44K |
probably damaging |
Het |
Elapor2 |
A |
T |
5: 9,529,247 (GRCm39) |
N1027Y |
probably damaging |
Het |
En1 |
A |
G |
1: 120,531,324 (GRCm39) |
D188G |
probably damaging |
Het |
Epha10 |
C |
T |
4: 124,807,914 (GRCm39) |
|
probably benign |
Het |
Fam120b |
A |
T |
17: 15,623,388 (GRCm39) |
L455F |
possibly damaging |
Het |
Flt4 |
AC |
ACC |
11: 49,541,861 (GRCm39) |
|
probably null |
Het |
Incenp |
A |
G |
19: 9,855,039 (GRCm39) |
|
probably null |
Het |
Kansl3 |
A |
G |
1: 36,397,230 (GRCm39) |
V86A |
possibly damaging |
Het |
Klhl7 |
C |
G |
5: 24,331,918 (GRCm39) |
F73L |
probably damaging |
Het |
Med28 |
T |
A |
5: 45,682,541 (GRCm39) |
V69D |
probably damaging |
Het |
Mknk1 |
C |
A |
4: 115,721,749 (GRCm39) |
L98M |
probably damaging |
Het |
Mknk1 |
T |
A |
4: 115,721,750 (GRCm39) |
L98Q |
probably damaging |
Het |
Myo3b |
T |
A |
2: 69,935,724 (GRCm39) |
C97S |
probably damaging |
Het |
Neto1 |
A |
G |
18: 86,414,033 (GRCm39) |
H9R |
possibly damaging |
Het |
Omd |
A |
T |
13: 49,745,703 (GRCm39) |
E371V |
probably benign |
Het |
Or1n2 |
A |
T |
2: 36,797,833 (GRCm39) |
I292F |
probably damaging |
Het |
Or2w3b |
T |
C |
11: 58,623,146 (GRCm39) |
T282A |
possibly damaging |
Het |
Or4c123 |
T |
C |
2: 89,127,257 (GRCm39) |
D119G |
probably damaging |
Het |
Or51e2 |
G |
A |
7: 102,391,637 (GRCm39) |
T191I |
probably benign |
Het |
Osbpl9 |
G |
T |
4: 108,919,497 (GRCm39) |
Y733* |
probably null |
Het |
Pcdh12 |
A |
T |
18: 38,401,951 (GRCm39) |
S91R |
probably damaging |
Het |
Pxk |
C |
A |
14: 8,136,911 (GRCm38) |
P144Q |
probably benign |
Het |
Qser1 |
A |
G |
2: 104,620,219 (GRCm39) |
S198P |
probably damaging |
Het |
Recql |
T |
G |
6: 142,308,073 (GRCm39) |
|
probably benign |
Het |
Reln |
T |
C |
5: 22,184,712 (GRCm39) |
D1601G |
probably damaging |
Het |
Scn10a |
T |
C |
9: 119,438,100 (GRCm39) |
D1922G |
probably damaging |
Het |
Scn11a |
T |
A |
9: 119,598,974 (GRCm39) |
R1185S |
probably damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Shoc1 |
A |
G |
4: 59,082,432 (GRCm39) |
S399P |
possibly damaging |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Slc9a9 |
T |
A |
9: 94,594,954 (GRCm39) |
F155I |
probably damaging |
Het |
Spef2 |
T |
A |
15: 9,614,367 (GRCm39) |
K1193M |
probably damaging |
Het |
Swt1 |
T |
C |
1: 151,288,585 (GRCm39) |
T80A |
probably benign |
Het |
Tmc1 |
A |
G |
19: 20,781,966 (GRCm39) |
I584T |
probably damaging |
Het |
Tsc22d1 |
C |
A |
14: 76,654,494 (GRCm39) |
F324L |
probably benign |
Het |
Usp19 |
T |
C |
9: 108,377,392 (GRCm39) |
V1236A |
probably damaging |
Het |
Vmn2r63 |
T |
C |
7: 42,577,635 (GRCm39) |
N301S |
probably benign |
Het |
Wrn |
C |
T |
8: 33,784,945 (GRCm39) |
V476I |
probably benign |
Het |
Zbed6 |
G |
A |
1: 133,585,879 (GRCm39) |
T486I |
probably damaging |
Het |
Zbtb25 |
C |
A |
12: 76,396,476 (GRCm39) |
E249* |
probably null |
Het |
Zfp54 |
C |
A |
17: 21,653,962 (GRCm39) |
T152K |
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 |
|
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'- CCCGTCGCTTGCTTATGAAC -3'
(R):5'- CTTTCACCCACAAAGGATGGCTAC -3'
Sequencing Primer
(F):5'- ATGAACCTCCTGTCCTCTGG -3'
(R):5'- AAGGATGGCTACTATCCTCATTGGC -3'
|
Posted On |
2016-09-06 |