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 |
9630060C05Rik, SUT1, SUT-1 |
| MMRRC Submission |
042971-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.848)
|
| Stock # |
R5400 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
35267957-35308131 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 35301842 bp (GRCm38)
|
| 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 |
|---|
| 9330182L06Rik |
A |
T |
5: 9,479,247 (GRCm38) |
N1027Y |
probably damaging |
Het |
| Accsl |
T |
C |
2: 93,859,422 (GRCm38) |
D380G |
probably damaging |
Het |
| Afm |
T |
C |
5: 90,551,398 (GRCm38) |
L567P |
possibly damaging |
Het |
| AI481877 |
A |
G |
4: 59,082,432 (GRCm38) |
S399P |
possibly damaging |
Het |
| Anks1b |
A |
T |
10: 90,512,824 (GRCm38) |
I785L |
probably damaging |
Het |
| Arpc5l |
G |
A |
2: 39,013,735 (GRCm38) |
G79S |
probably benign |
Het |
| Arvcf |
G |
T |
16: 18,399,070 (GRCm38) |
R440L |
probably benign |
Het |
| Atm |
T |
C |
9: 53,503,018 (GRCm38) |
D924G |
probably damaging |
Het |
| Atp8b1 |
A |
T |
18: 64,545,989 (GRCm38) |
|
probably null |
Het |
| Cd19 |
C |
T |
7: 126,414,452 (GRCm38) |
G55D |
probably benign |
Het |
| Cd34 |
A |
G |
1: 194,938,958 (GRCm38) |
|
probably benign |
Het |
| Cd69 |
T |
A |
6: 129,269,991 (GRCm38) |
M88L |
probably benign |
Het |
| Ces2h |
A |
G |
8: 105,018,425 (GRCm38) |
E397G |
probably benign |
Het |
| Ddx60 |
T |
C |
8: 62,010,002 (GRCm38) |
F1306L |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 149,000,016 (GRCm38) |
E1124G |
probably damaging |
Het |
| Dio1 |
A |
T |
4: 107,306,988 (GRCm38) |
M44K |
probably damaging |
Het |
| En1 |
A |
G |
1: 120,603,595 (GRCm38) |
D188G |
probably damaging |
Het |
| Epha10 |
C |
T |
4: 124,914,121 (GRCm38) |
|
probably benign |
Het |
| Fam120b |
A |
T |
17: 15,403,126 (GRCm38) |
L455F |
possibly damaging |
Het |
| Flt4 |
AC |
ACC |
11: 49,651,034 (GRCm38) |
|
probably null |
Het |
| Gm38394 |
G |
A |
1: 133,658,141 (GRCm38) |
T486I |
probably damaging |
Het |
| Incenp |
A |
G |
19: 9,877,675 (GRCm38) |
|
probably null |
Het |
| Kansl3 |
A |
G |
1: 36,358,149 (GRCm38) |
V86A |
possibly damaging |
Het |
| Klhl7 |
C |
G |
5: 24,126,920 (GRCm38) |
F73L |
probably damaging |
Het |
| Med28 |
T |
A |
5: 45,525,199 (GRCm38) |
V69D |
probably damaging |
Het |
| Mknk1 |
C |
A |
4: 115,864,552 (GRCm38) |
L98M |
probably damaging |
Het |
| Mknk1 |
T |
A |
4: 115,864,553 (GRCm38) |
L98Q |
probably damaging |
Het |
| Myo3b |
T |
A |
2: 70,105,380 (GRCm38) |
C97S |
probably damaging |
Het |
| Neto1 |
A |
G |
18: 86,395,908 (GRCm38) |
H9R |
possibly damaging |
Het |
| Olfr1230 |
T |
C |
2: 89,296,913 (GRCm38) |
D119G |
probably damaging |
Het |
| Olfr317 |
T |
C |
11: 58,732,320 (GRCm38) |
T282A |
possibly damaging |
Het |
| Olfr354 |
A |
T |
2: 36,907,821 (GRCm38) |
I292F |
probably damaging |
Het |
| Olfr78 |
G |
A |
7: 102,742,430 (GRCm38) |
T191I |
probably benign |
Het |
| Omd |
A |
T |
13: 49,592,227 (GRCm38) |
E371V |
probably benign |
Het |
| Osbpl9 |
G |
T |
4: 109,062,300 (GRCm38) |
Y733* |
probably null |
Het |
| Pcdh12 |
A |
T |
18: 38,268,898 (GRCm38) |
S91R |
probably damaging |
Het |
| Pxk |
C |
A |
14: 8,136,911 (GRCm38) |
P144Q |
probably benign |
Het |
| Qser1 |
A |
G |
2: 104,789,874 (GRCm38) |
S198P |
probably damaging |
Het |
| Recql |
T |
G |
6: 142,362,347 (GRCm38) |
|
probably benign |
Het |
| Reln |
T |
C |
5: 21,979,714 (GRCm38) |
D1601G |
probably damaging |
Het |
| Scn10a |
T |
C |
9: 119,609,034 (GRCm38) |
D1922G |
probably damaging |
Het |
| Scn11a |
T |
A |
9: 119,769,908 (GRCm38) |
R1185S |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,377,495 (GRCm38) |
R265L |
probably benign |
Het |
| Slc22a30 |
G |
A |
19: 8,344,393 (GRCm38) |
Q436* |
probably null |
Het |
| Slc9a9 |
T |
A |
9: 94,712,901 (GRCm38) |
F155I |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,614,281 (GRCm38) |
K1193M |
probably damaging |
Het |
| Swt1 |
T |
C |
1: 151,412,834 (GRCm38) |
T80A |
probably benign |
Het |
| Tmc1 |
A |
G |
19: 20,804,602 (GRCm38) |
I584T |
probably damaging |
Het |
| Tsc22d1 |
C |
A |
14: 76,417,054 (GRCm38) |
F324L |
probably benign |
Het |
| Usp19 |
T |
C |
9: 108,500,193 (GRCm38) |
V1236A |
probably damaging |
Het |
| Vmn2r63 |
T |
C |
7: 42,928,211 (GRCm38) |
N301S |
probably benign |
Het |
| Wrn |
C |
T |
8: 33,294,917 (GRCm38) |
V476I |
probably benign |
Het |
| Zbtb25 |
C |
A |
12: 76,349,702 (GRCm38) |
E249* |
probably null |
Het |
| Zfp54 |
C |
A |
17: 21,433,700 (GRCm38) |
T152K |
probably benign |
Het |
|
| Other mutations in Slc13a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Slc13a4
|
APN |
6 |
35,289,824 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL00975:Slc13a4
|
APN |
6 |
35,274,975 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL01069:Slc13a4
|
APN |
6 |
35,268,882 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01319:Slc13a4
|
APN |
6 |
35,307,353 (GRCm38) |
splice site |
probably null |
|
|
IGL01560:Slc13a4
|
APN |
6 |
35,271,603 (GRCm38) |
splice site |
probably benign |
|
|
IGL02125:Slc13a4
|
APN |
6 |
35,278,288 (GRCm38) |
missense |
probably benign |
0.23 |
|
IGL02415:Slc13a4
|
APN |
6 |
35,283,237 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02888:Slc13a4
|
APN |
6 |
35,268,840 (GRCm38) |
missense |
probably benign |
0.10 |
|
R0047:Slc13a4
|
UTSW |
6 |
35,287,362 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R0047:Slc13a4
|
UTSW |
6 |
35,287,362 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R0532:Slc13a4
|
UTSW |
6 |
35,287,404 (GRCm38) |
splice site |
probably null |
|
|
R0747:Slc13a4
|
UTSW |
6 |
35,278,328 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1391:Slc13a4
|
UTSW |
6 |
35,271,662 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2106:Slc13a4
|
UTSW |
6 |
35,287,864 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2253:Slc13a4
|
UTSW |
6 |
35,280,483 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3195:Slc13a4
|
UTSW |
6 |
35,268,926 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3689:Slc13a4
|
UTSW |
6 |
35,268,910 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R3698:Slc13a4
|
UTSW |
6 |
35,274,957 (GRCm38) |
missense |
probably benign |
0.06 |
|
R3785:Slc13a4
|
UTSW |
6 |
35,287,892 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3856:Slc13a4
|
UTSW |
6 |
35,271,604 (GRCm38) |
splice site |
probably null |
|
|
R6142:Slc13a4
|
UTSW |
6 |
35,301,783 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6645:Slc13a4
|
UTSW |
6 |
35,268,839 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6851:Slc13a4
|
UTSW |
6 |
35,301,733 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7200:Slc13a4
|
UTSW |
6 |
35,287,350 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R7513:Slc13a4
|
UTSW |
6 |
35,283,337 (GRCm38) |
splice site |
probably null |
|
|
R7590:Slc13a4
|
UTSW |
6 |
35,279,463 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7673:Slc13a4
|
UTSW |
6 |
35,276,476 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7706:Slc13a4
|
UTSW |
6 |
35,270,355 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7971:Slc13a4
|
UTSW |
6 |
35,271,760 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8056:Slc13a4
|
UTSW |
6 |
35,268,952 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8428:Slc13a4
|
UTSW |
6 |
35,268,879 (GRCm38) |
missense |
probably benign |
0.21 |
|
R8486:Slc13a4
|
UTSW |
6 |
35,270,369 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8767:Slc13a4
|
UTSW |
6 |
35,268,848 (GRCm38) |
missense |
probably benign |
0.21 |
|
R8795:Slc13a4
|
UTSW |
6 |
35,283,295 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9145:Slc13a4
|
UTSW |
6 |
35,270,355 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9431:Slc13a4
|
UTSW |
6 |
35,301,807 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Slc13a4
|
UTSW |
6 |
35,278,292 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Z1177:Slc13a4
|
UTSW |
6 |
35,289,850 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Z1177:Slc13a4
|
UTSW |
6 |
35,289,849 (GRCm38) |
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 |
Incidental Mutation